FHC0001 commonName g. 5256G>A FHC0001 protEffect E258K FHC0001 funChange phosphorylation site disrupted or titin and myosin binding sites may be lost FHC0002 commonName g. 5254A>C FHC0002 protEffect H257P FHC0002 funChange net charge substitution +1 to 0 FHC0003 commonName g. 5824 g>t FHC0003 funChange phosphorylation site truncated; loss of titin and myosin binding sites FHC0004 commonName g. 5166G>A FHC0004 protEffect D228N FHC0004 funChange net charge substitution -1 to 0; muscle contractile regulation region possibly related to the myosin regulatory light chain FHC0005 commonName g. 5824g>a FHC0005 funChange phosphorylation site truncated; loss of titin and myosin binding sites FHC0006 commonName g. 5828g>a FHC0006 funChange loss of phosphorylation site, titin and myosin binding sites FHC0007 commonName g. 6011G>A FHC0007 protEffect G278E FHC0007 funChange net charge substitution 0 to -1 FHC0008 commonName g. 6014G>C FHC0008 protEffect G279A FHC0008 funChange neutral charge substitution FHC0010 commonName g. 7308a>g FHC0010 funChange phosphorylation site truncated; loss of titin and myosin binding sites FHC0012 commonName g. 7360G>A FHC0012 protEffect R326Q FHC0012 funChange net charge substitution +1 to 0 FHC0015 commonName g. 7438T>C FHC0015 protEffect L352P FHC0015 funChange neutral charge substitution FHC0016 commonName g. 10385a>g FHC0016 funChange loss of function FHC0017 commonName g. 10512-10513del FHC0017 funChange loss of function FHC0018 commonName g. 10587delT FHC0018 funChange loss of function FHC0019 commonName g. 10618delC FHC0019 funChange loss of function FHC0020 commonName g. 10628G>C FHC0020 protEffect E451Q FHC0020 funChange loss of titin and myosin binding sites FHC0022 commonName g. 10732 C>T FHC0022 protEffect T457M FHC0022 funChange neutral charge substitution FHC0025 commonName g. 10931G>A FHC0025 protEffect R495Q FHC0025 funChange protein phosphorylation may be affected FHC0026 commonName g. 10951C>T FHC0026 protEffect R502W FHC0026 funChange net charge substitution +1 to 0 FHC0027 commonName g. 10952G>A FHC0027 protEffect R502Q FHC0027 funChange protein phosphorylation may be affected FHC0028 commonName g. 10957-10959del FHC0028 protEffect K504del FHC0028 funChange unknown FHC0029 commonName g. 11071G>C FHC0029 protEffect E542Q FHC0029 funChange loss of titin and myosin binding sites FHC0030 commonName g. 11047-11048del FHC0030 funChange loss of function FHC0032 commonName g. 11073t>c FHC0032 funChange loss of function FHC0035 commonName g. 11645delT FHC0035 protEffect delta593S FHC0035 funChange loss of titin and myosin binding sites FHC0038 commonName g. 12413delA FHC0038 funChange loss of function FHC0040 commonName g. 13858a>g FHC0040 funChange loss of titin and myosin binding sites FHC0045 commonName g. 13893G>A FHC0045 protEffect R654H FHC0045 funChange may disrupt the binding of Ca2+/calmodulin kinase to myosin binding protein C FHC0048 commonName g. 13980G>A FHC0048 protEffect W683X FHC0048 funChange loss of function FHC0050 commonName g. 14271delC FHC0050 protEffect delta698C FHC0050 funChange loss of titin and myosin binding sites FHC0053 commonName g. 15042-15063dupl FHC0053 funChange loss of function FHC0055 commonName g. 15087C>A FHC0055 protEffect N755K FHC0055 funChange conformation of C5 domain disrupted FHC0060 commonName g. 15829a>g FHC0060 funChange loss of titin and myosin binding sites (870aa) or C6 domain truncated (1239aa) FHC0061 commonName g. 15131g>t FHC0061 funChange loss of titin and myosin binding sites FHC0062 commonName g. 15131g>a FHC0062 funChange loss of titin and myosin binding sites FHC0063 commonName g. 15088delC FHC0063 protEffect delta756C FHC0063 funChange loss of titin and myosin binding sites FHC0065 commonName g. 15919insG FHC0065 funChange loss of titin and myosin binding sites FHC0066 commonName g. 16085 G>A FHC0066 protEffect R810H FHC0066 funChange neutral charge substitution; located in the fibronectin type-3 domain (C6) FHC0067 commonName g. 16088A>G FHC0067 protEffect K811R FHC0067 funChange neutral charge substitution FHC0068 commonName g. 16154C>T FHC0068 protEffect A833V FHC0068 funChange neutral charge substitution FHC0069 commonName g. 16189-16193del FHC0069 funChange loss of function FHC0070 commonName g. 16190-16194del FHC0070 funChange loss of titin and myosin binding sites FHC0071 commonName g. 16234-16247dupl FHC0071 funChange loss of titin and myosin binding sites FHC0072 commonName g. 16212delC FHC0072 funChange loss of function FHC0073 commonName g. 17721G>A FHC0073 protEffect V896M FHC0073 funChange neutral charge substitution FHC0074 commonName g. 17773-17774delgt FHC0074 funChange loss of function FHC0075 commonName g. 17721G>A FHC0075 protEffect V896M FHC0075 funChange neutral charge substitution FHC0076 commonName g. 18566-18567del FHC0076 funChange loss of titin and myosin binding sites FHC0077 commonName g. 18607C>T FHC0077 protEffect Q969X FHC0077 funChange loss of titin and myosin binding sites FHC0078 commonName g. 18608g>a FHC0078 funChange may result in additional residues and loss of wild-type residues FHC0079 commonName g. 18535-18536del FHC0079 funChange loss of titin and myosin binding sites FHC0080 commonName g. 20025^20026ins FHC0080 funChange loss of titin and myosin binding sites FHC0081 commonName g. 19935 C>T FHC0081 protEffect Q1012X FHC0081 funChange loss of titin and myosin binding sites FHC0082 commonName g. 20082 C>T FHC0082 protEffect Q1061X FHC0082 funChange loss of titin and myosin binding sites FHC0083 commonName g. 20096 g>a FHC0083 funChange loss of titin and myosin binding sites FHC0084 commonName g. 20410G>T FHC0084 protEffect E1096X FHC0084 funChange loss of function FHC0085 commonName g. 20459g>c FHC0085 funChange loss of titin and myosin binding sites FHC0086 commonName g. 20456 t>g FHC0086 funChange loss of titin and myosin binding sites FHC0090 commonName g. 20835g>a FHC0090 funChange loss of titin and myosin binding sites; truncated protein undetected by Western blotting FHC0091 commonName g. 21034G>A FHC0091 protEffect A1194T FHC0091 funChange neutral charge substitution FHC0092 commonName g. 21059delG FHC0092 funChange loss of function FHC0093 commonName g. 21524G>A FHC0093 protEffect A1255T FHC0093 funChange neutral charge substitution FHC0094 commonName g. 21082g>a FHC0094 funChange loss of myosin-binding site FHC0095 commonName g. [21420^21421ins21404-21415; 21420-21423del] FHC0095 funChange partial loss of myosin binding site FHC0096 commonName g. 21458 C>T FHC0096 protEffect Q1233X FHC0096 funChange loss of titin and myosin binding sites FHC0097 commonName g. 21520^21521ins21503-21520 FHC0097 protEffect 1253^1254insGGIYVC FHC0097 funChange conformation of myosin binding site disrupted FHC0098 commonName g. 4421-4423del FHC0098 protEffect Gdel10 FHC0098 funChange unknown FHC0099 commonName g. 4470C>T FHC0099 protEffect A26V FHC0099 funChange neutral charge substitution; located in the globular head domain FHC0101 commonName g. 4568G>A FHC0101 protEffect V59I FHC0101 funChange neutral charge substitution FHC0102 commonName g. 5353C>T FHC0102 protEffect T124I FHC0102 funChange neutral charge substitution; located in the ATP-binding site FHC0103 commonName g. 5410G>A FHC0103 protEffect R143Q FHC0103 funChange net charge substitution +1 to 0; located in the ATP-binding site FHC0104 commonName g. 5467A>G FHC0104 protEffect Y162C FHC0104 funChange neutral charge substitution; located at the end of the ATP-binding site FHC0105 commonName g. 6283G>C FHC0105 protEffect R190T FHC0105 funChange net charge substitution in the F-helix in close proximity to the phosphate binding P-loop; located in the ATP-binding region of the myosin head; FHC0106 commonName g. 6275C>G FHC0106 protEffect N187K FHC0106 funChange net charge substitution 0 to +1; located in the ATP-binding site FHC0107 commonName g. 6277C>A FHC0107 protEffect T188N FHC0107 funChange neutral charge substitution; regulatory light chain and ATP binding domains FHC0108 commonName g. 6491A>G FHC0108 protEffect N232S FHC0108 funChange neutral charge substitution; located in the ATP-binding site; ATPase activity affected FHC0109 commonName g. 6460C>A FHC0109 protEffect Q222K FHC0109 funChange net charge substitution 0 to +1; located in the distal end of the ATP-binding site FHC0111 commonName g. 6643G>A FHC0111 protEffect R249Q FHC0111 funChange net charge substitution +1 to 0; may alter globular head conformation FHC0112 commonName g. 6664G>A FHC0112 protEffect G256E FHC0112 funChange net charge substitution -1 to 0; located in outer end of the ATP-binding site; contractile properties indistinguishable from normal myofibres FHC0113 commonName g. 6633A>C FHC0113 protEffect K246Q FHC0113 funChange net charge substitution +1 to 0 FHC0114 commonName g. 6685T>C FHC0114 protEffect I263T FHC0114 funChange unknown; located in the ATP-binding site FHC0115 commonName g. 7543G>C FHC0115 protEffect A326P FHC0115 funChange neutral charge substitution FHC0116 commonName g. [8808C>G;8810G>T] FHC0116 protEffect L390V FHC0116 funChange neutral charge substitution FHC0117 commonName g. 8848G>A FHC0117 protEffect R403Q FHC0117 funChange net charge substitution +1 to 0; located in the actin-binding site; may affect actin-myosin interaction;[mouse model] hyperdynamic contraction, increased end-systolic chamber stiffness FHC0118 commonName g. 8847C>T FHC0118 protEffect R403W FHC0118 funChange net charge substitution +1 to 0; located in the actin-binding site; may alter globular head conformation; may reduce contractile output by affecting actin-myosin interaction FHC0119 commonName g. 8848G>T FHC0119 protEffect R403L FHC0119 funChange net charge substitution +1 to 0; located in the actin-binding site; may alter globular head conformation; may reduce contractile output by affecting actin-myosin interaction FHC0120 commonName g. 8789G>T FHC0120 protEffect K383N FHC0120 funChange net charge substitution +1 to 0 FHC0121 commonName g. 9123C>T FHC0121 protEffect R453C FHC0121 funChange net charge substitution +1 to 0; located in outer end of the ATP-binding site FHC0123 commonName g. 9585T>G FHC0123 protEffect F513C FHC0123 funChange neutral charge substitution; located in the head-rod junction FHC0124 commonName g. 10391G>C FHC0124 protEffect G584R FHC0124 funChange net charge substitution 0 to +1; located in the head-rod junction; may alter; may affect the contractile property of the protein FHC0125 commonName g. 10401A>T FHC0125 protEffect D587V FHC0125 funChange net charge substitution -1 to 0 FHC0126 commonName g. 10446A>G FHC0126 protEffect N602S FHC0126 funChange neutral charge substitution FHC0127 commonName g. 10442C>G FHC0127 protEffect L601V FHC0127 funChange neutral charge substitution FHC0130 commonName V606L FHC0130 protEffect p.V606L FHC0130 funChange rod region FHC0131 commonName g. 9542G>A FHC0131 protEffect E499K FHC0131 funChange net charge substitution 0 to +1 FHC0132 commonName g. 10457G>A FHC0132 protEffect V606M FHC0132 funChange neutral charge subsititution; located in the actin-binding site FHC0134 commonName g. 10486G>C FHC0134 protEffect K615N FHC0134 funChange net charge substitution +1 to 0; located in the actin-binding domain FHC0135 commonName g. 11271G>A FHC0135 protEffect M659I FHC0135 funChange neutral charge substitution FHC0136 commonName g. 11281C>T FHC0136 protEffect R663C FHC0136 funChange net charge substitution +1 to 0; located in the actin-binding site FHC0137 commonName g. 11282G>A FHC0137 protEffect R663H FHC0137 funChange neutral charge substitution; located in the actin-binding site FHC0138 commonName g. 11281C>A FHC0138 protEffect R663S FHC0138 funChange net charge substitution +1 to 0 FHC0139 commonName g. 11306G>T FHC0139 protEffect R671C FHC0139 funChange net charge substitution +1 to 0 FHC0140 commonName g. 12072C>T FHC0140 protEffect R694C FHC0140 funChange reactive cysteines FHC0141 commonName g. 12079A>G FHC0141 protEffect N696S FHC0141 funChange neutral charge substitution; located within the region containing actin- and ATP-binding sites FHC0143 commonName g. 12127G>T FHC0143 protEffect R712L FHC0143 funChange unknown FHC0144 commonName g. 12138G>A FHC0144 protEffect G716R FHC0144 funChange net charge subsitution 0 to +1; located in the light chain-binding site FHC0146 commonName g. 12147C>T FHC0146 protEffect R719W FHC0146 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0147 commonName g. 12148G>A FHC0147 protEffect R719Q FHC0147 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0150 commonName g. 12307C>T FHC0150 protEffect R723C FHC0150 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0151 commonName g. 12307C>G FHC0151 protEffect R723G FHC0151 funChange net charge substitution +1 to 0; located in the light chain-binding site FHC0153 commonName g. 12332C>T FHC0153 protEffect P731L FHC0153 funChange neutral charge substitution; located in the light chain-binding site FHC0154 commonName g. 12338G>A FHC0154 protEffect G733E FHC0154 funChange net charge substitution 0 to -1 FHC0155 commonName g. 12348T>G FHC0155 protEffect I736M FHC0155 funChange neutral charge substitution; located in the light chain-binding site FHC0156 commonName g. 12340 C>G FHC0156 protEffect Q734E FHC0156 funChange net charge substitution 0 to -1; located close to MYL3 interface; may affect mechano-chemical coupling during contraction FHC0157 commonName g. 12361G>C FHC0157 protEffect G741R FHC0157 funChange net charge substitution 0 to +1; located in the light chain-binding site FHC0158 commonName g. 12361G>T FHC0158 protEffect G741W FHC0158 funChange neutral charge substitution; located in the light chain-binding site FHC0159 commonName g. 12361G>A FHC0159 protEffect G741R FHC0159 funChange net charge substitution 0 to +1; located in the light chain-binding site FHC0160 commonName g. 12362G>C FHC0160 protEffect G741A FHC0160 funChange neutral charge substitution; located in the light chain-binding site FHC0161 commonName g. 12707G>A FHC0161 protEffect G768R FHC0161 funChange net charge substitution 0 to +1 FHC0163 commonName g. 19227G>A FHC0163 protEffect A1379T FHC0163 funChange altering interaction of the light meromyosin with other sarcomeric proteins FHC0164 commonName g. 22240A>G FHC0164 protEffect S1775G FHC0164 funChange disrupting the coiled-coil structure of the light meromyosin FHC0165 commonName g. 13198G>A FHC0165 protEffect E846K FHC0165 funChange net charge substitution -1 to +1 FHC0167 commonName g. 12738A>G FHC0167 protEffect D778G FHC0167 funChange net charge substitution -1 to 0; located in the light chain-binding site; may affect actin-binding FHC0168 commonName g. 12739C>G FHC0168 protEffect D778E FHC0168 funChange neutral charge substitution; light chain binding region FHC0169 commonName g. 12750G>A FHC0169 protEffect S782N FHC0169 funChange neutral charge substitution; located in the light chain-binding site; may affect actin-binding FHC0170 commonName g. 12765G>A FHC0170 protEffect R787H FHC0170 funChange neutral charge substitution FHC0171 commonName g. 12794G>A FHC0171 protEffect A797T FHC0171 funChange neutral charge substitution; located in the light chain-binding domain FHC0173 commonName g. 13198G>C FHC0173 protEffect E846Q FHC0173 funChange rod region FHC0174 commonName g. 13267C>T FHC0174 protEffect R869C FHC0174 funChange net charge substitution +1 to 0; located in the rod FHC0175 commonName g. 13271G>A FHC0175 protEffect R870H FHC0175 funChange neutral charge substitution; located in the rod FHC0176 commonName g. 13270C>T FHC0176 protEffect R870C FHC0176 funChange net charge substitution +1 to 0; located in the rod FHC0177 commonName g. 13217T>C FHC0177 protEffect M852T FHC0177 funChange neutral charge substitution FHC0178 commonName g. 13267C>G FHC0178 protEffect R869G FHC0178 funChange net charge substitution +1 to 0 FHC0179 commonName g. 13292T>A FHC0179 protEffect M877K FHC0179 funChange net charge substitution 0 to +1; located in the rod FHC0180 commonName g. 13309-13311del FHC0180 protEffect Edel883 FHC0180 funChange S2 domain FHC0181 commonName g. 13968 A>G FHC0181 protEffect E894G FHC0181 funChange net charge substitution -1 to 0 FHC0182 commonName g. 14009C>G FHC0182 protEffect L908V FHC0182 funChange neutral charge substitution; located in the rod; may affect actin-binding FHC0183 commonName g. 14057G>A FHC0183 protEffect E924K FHC0183 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0184 commonName g. 14066 G>A FHC0184 protEffect E927K FHC0184 funChange net charge substitution -1 to +1 FHC0185 commonName g. 14075-14077del FHC0185 protEffect Edel930 FHC0185 funChange unknown; located in the rod FHC0186 commonName g. 14075G>A FHC0186 protEffect E930K FHC0186 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0188 commonName g. 14090G>A FHC0188 protEffect E935K FHC0188 funChange net charge substitution -1 to +1; located in the head-rod junction; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0190 commonName g. 14132G>A FHC0190 protEffect E949K FHC0190 funChange net charge substitution -1 to +1; located in the rod; may alter the conformation of the head-rod junction; may disrupt the assembly of thick filaments FHC0191 commonName g. 14169T>G FHC0191 protEffect L961R FHC0191 funChange net charge substitution 0 to +1; located in the rod FHC0192 commonName g. 23793-26171del FHC0192 funChange unknown FHC0194 commonName g. 8856G>A FHC0194 protEffect V406M FHC0194 funChange neutral charge substitution; located in the actin-binding site FHC0196 commonName g. 9124G>A FHC0196 protEffect R453H FHC0196 funChange neutral charge substitution; located in outer end of the ATP-binding site FHC0197 commonName g. 9124G>T FHC0197 protEffect R453L FHC0197 funChange net charge substitution +1 to 0; located in outer end of the ATP-binding site FHC0198 commonName g. 9049C>T FHC0198 protEffect A428V FHC0198 funChange neutral charge substitution; actin binding domain FHC0199 commonName g. 9094T>C FHC0199 protEffect I443T FHC0199 funChange neutral charge substitution; actin binding domain FHC0201 commonName c. 67G>A FHC0201 protEffect A13T FHC0201 funChange may disrupt the phosphorylation site FHC0202 commonName c. 82T>C FHC0202 protEffect F18L FHC0202 funChange may disrupt the phosphorylation site FHC0203 commonName c. 94G>A FHC0203 protEffect E22K FHC0203 funChange may disrupt the phosphorylation site FHC0206 commonName c. 171C>A FHC0206 protEffect N47K FHC0211 commonName c. 203G>A FHC0211 protEffect R58Q FHC0211 funChange Mg2+ binding site disrupted FHC0214 commonName c. 314C>G FHC0214 protEffect P95R FHC0214 funChange may disrupt the phosphorylation site FHC0230 commonName c. 527A>T FHC0230 protEffect D166V FHC0230 funChange net charge substitution -1 to 0 FHC0320 commonName c. 217A>G FHC0320 protEffect E56G FHC0320 funChange net charge substitution -1 to 0 FHC0330 commonName c. 495A>G FHC0330 protEffect M149V FHC0330 funChange increased actin translocation FHC0335 commonName c. 511G>A FHC0335 protEffect R154H FHC0335 funChange increased actin translocation FHC0392 commonName g. 4745 G>A FHC0392 protEffect R162Q FHC0392 funChange net charge subsitution +1 to 0; located in the troponin C binding site FHC0393 commonName g. 4757 C>T FHC0393 protEffect S166F FHC0393 funChange neutral charge substitution; located in the troponin C binding site FHC0394 commonName g. 4792 A>G FHC0394 protEffect K178E FHC0394 funChange net charge substitution +1 to -1 FHC0395 commonName g. 4807 A>G FHC0395 protEffect K183E FHC0395 funChange net charge substitution +1 to -1 FHC0400 commonName g. 2530G>T FHC0400 protEffect K58N FHC0400 funChange no change FHC0402 commonName g. 2600 C>T FHC0402 protEffect P82S FHC0402 funChange neutral charge substitution FHC0404 commonName g. 4683G>A FHC0404 protEffect R141Q FHC0404 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C FHC0405 commonName g. 4693 C>T FHC0405 protEffect R145W FHC0405 funChange net charge substitution +1 to 0 FHC0406 commonName g. 4730C>T FHC0406 protEffect A157V FHC0406 funChange neutral charge substitution; First binding site to cardiac troponin C FHC0407 commonName g. 4693C>G FHC0407 protEffect R145G FHC0407 funChange unknown FHC0408 commonName g. 4694G>A FHC0408 protEffect R145Q FHC0408 funChange unknown FHC0409 commonName g. 4744C>T FHC0409 protEffect R162W FHC0409 funChange unknown FHC0410 commonName g. 4807-4809del FHC0410 protEffect Kdel183 FHC0410 funChange unknown FHC0411 commonName g. 4745G>C FHC0411 protEffect R162P FHC0411 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C FHC0412 commonName g. 4789-4791del FHC0412 protEffect K177del FHC0412 funChange located in the first binding site to cardiac troponin C FHC0413 commonName g. 6449G>A FHC0413 protEffect R186Q FHC0413 funChange net charge substitution +1 to 0; first binding site to cardiac troponin C FHC0414 commonName g. 6461 A>G FHC0414 protEffect D190G FHC0414 funChange net charge substitution -1 to 0 FHC0415 commonName g. 6467 G>A FHC0415 protEffect R192H FHC0415 funChange neutral charge substitution FHC0416 commonName g. 6498G>A FHC0416 protEffect D196N FHC0416 funChange net charge substitution -1 to 0; first binding site to cardiac troponin C FHC0418 commonName S199N FHC0418 protEffect p.S199N FHC0421 commonName g. 6499 G>C FHC0421 protEffect G203R FHC0421 funChange net charge subsitution 0 to +1 FHC0422 commonName g. 6499G>A FHC0422 protEffect G203S FHC0422 funChange unknown FHC0423 commonName g. 6508A>C FHC0423 protEffect K206Q FHC0423 funChange unknown FHC0546 commonName g.200T>C FHC0546 protEffect F70L FHC0546 funChange neutral charge substitution FHC0547 commonName g. 239 G>A FHC0547 protEffect E83K FHC0547 funChange net charge substitution -1 to +1 FHC0548 commonName g. 249 A>C FHC0548 protEffect D86A FHC0548 funChange net charge substitution -1 to 0; located in the TPM1-binding region FHC0549 commonName g. 228T>A FHC0549 protEffect I79N FHC0549 funChange net charge subsitution 0 to +1; [rabbit model] increased Ca2+ sensitivity of myofibril ATPase activity, no significant change in maximum ATPase activity, impaired inhibition of TNNT2 by TNNI3 FHC0550 commonName g. 119C>T FHC0550 protEffect R92W FHC0554 commonName g. 125 C>T FHC0554 protEffect R94C FHC0554 funChange net charge substitution +1 to 0 FHC0555 commonName g. 156C>T FHC0555 protEffect A104V FHC0565 commonName g. 161-163del FHC0565 protEffect Edel160 FHC0565 funChange net charge loss -1 FHC0567 commonName g. 170-172del FHC0567 protEffect E163del FHC0571 commonName g. 113 A>G FHC0571 protEffect K247R FHC0571 funChange neutral charge substitution FHC0573 commonName g.192A>T FHC0573 protEffect N271I FHC0573 funChange neutral charge substitution FHC0581 commonName g. 81G>C FHC0581 protEffect R278P FHC0581 funChange not specified; mutation affects conserved residue FHC0609 commonName c. 240 G>C FHC0609 protEffect E62Q FHC0609 funChange net charge subsitution -1 to 0; occurs at the f-position of the TPM1 heptad repeat FHC0610 commonName c. 244C>T FHC0610 protEffect A63V FHC0610 funChange neutral charge substitution FHC0611 commonName c. 265A>C FHC0611 protEffect K70T FHC0611 funChange net charge substitution +1 to 0 FHC0616 commonName c. 340T>C FHC0616 protEffect V95A FHC0616 funChange neutral charge substitution; increased calcium affinity FHC0621 commonName c. 571 T>C FHC0621 protEffect I172T FHC0621 funChange neutral charge substitution FHC0622 commonName c. 579G>A FHC0622 protEffect D175N FHC0622 funChange net charge substitution -1 to 0; may affect the Ca2+ dependent binding to troponin T; in vitro assay showed increased Ca2+ sensitivity FHC0623 commonName c. 595A>G FHC0623 protEffect E180G FHC0623 funChange net charge substitution -1 to 0 FHC0624 commonName c. 595A>T FHC0624 protEffect E180V FHC0624 funChange net charge substitution -1 to 0; Ca2+ dependent troponin T binding domain FHC0625 commonName c. 610T>G FHC0625 protEffect L185R FHC0625 funChange net charge substitution 0 to +1; near troponin T binding domain FHC0670 commonName c. 898 T>C FHC0670 protEffect M281T FHC0670 funChange neutral charge substitution; affect residues at the TPM1 dimer interface FHC0690 commonName g. 281G>A FHC0690 protEffect E101K(=E99K in the reference) FHC0690 funChange net charge substitution -1 to +1; close opposition to the myosin head and forming an electrostatic 'weak' actomyosin binding site FHC0695 commonName g.1146C>G FHC0695 protEffect P166A(=P164A in the reference) FHC0695 funChange neutral charge substitution; adjacent to an interaction region between actin monomers in the double helical actin filament FHC0800 commonName c. 2221G>T FHC0800 protEffect R740L FHC0800 funChange located within the alpha-actinin binding site; [yeast model] increased affinity to alpha-actinin FHC0904 commonName g. 2376-2382del FHC0904 funChange loss of function FHC0905 commonName g. 2377C>T FHC0905 protEffect Q76X FHC0905 funChange loss of function FHC0955 commonName g. 16115 G>A FHC0955 protEffect R820Q FHC0955 funChange net charge substitution +1 to 0 FHC0960 commonName g. 17653 C>A FHC0960 protEffect P873H FHC0960 funChange net charge subsitution 0 to +1; located in the fibronectin type-3 domain (C7) required for integration of MYBPC3 into the thick filament FHC0970 commonName g. 18509 C>T FHC0970 protEffect T936M FHC0970 funChange neutral charge substitution FHC1010 commonName g.4508G>A FHC1010 protEffect V39M FHC1010 funChange neutral charge substitution; regulatory light chain and ATP binding domains FHC1019 commonName g. 6300 G>A FHC1019 protEffect A196T FHC1019 funChange neutral charge substitution; located in the ATP-binding site FHC1020 commonName g. 6325G>A FHC1020 protEffect R204H FHC1020 funChange neutral charge substitution; regulatory light chain and ATP binding domains FHC1021 commonName g. 6346 C>T FHC1021 protEffect P211L FHC1021 funChange neutral charge substitution; located in the ATP-binding site FHC1024 commonName g. 6475 C>G FHC1024 protEffect L227V FHC1024 funChange neutral charge substitution FHC1025 commonName g. 7525 G>A FHC1025 protEffect V320M FHC1025 funChange neutral charge substitution FHC1026 commonName g. 7550 A>G FHC1026 protEffect E328G FHC1026 funChange net charge substitution -1 to 0 FHC1028 commonName g. 8266 A>G FHC1028 protEffect K351E FHC1028 funChange net charge substitution +1 to -1 FHC1030 commonName g. 8278G>A FHC1030 protEffect A355T FHC1030 funChange neutral charge substitution FHC1032 commonName g. 8850 G>T FHC1032 protEffect V404L FHC1032 funChange neutral charge substitution; located in the actin-binding site FHC1034 commonName g. 8871 G>A FHC1034 protEffect V411I FHC1034 funChange neutral charge substitution; located in the ATP-binding site FHC1036 commonName g. 9070 T>C FHC1036 protEffect M435T FHC1036 funChange neutral charge substitution FHC1040 commonName g. 9483A>G FHC1040 protEffect N479S FHC1040 funChange neutral charge substitution; reactive thiols FHC1042 commonName g. 9494G>A FHC1042 protEffect E483K FHC1042 funChange net charge substitution -1 to +1 FHC1044 commonName g. 9596 C>A FHC1044 protEffect L517M FHC1044 funChange neutral charge substitution; located close to reactive cysteine residues; may affect ATPase activity FHC1050 commonName g. 13126 A>G FHC1050 protEffect M822V FHC1050 funChange neutral charge substitution FHC1055 commonName g. 12726 A>T FHC1055 protEffect E774V FHC1055 funChange net charge subsitution -1 to 0; may affect interaction with actin FHC1056 commonName g. 12740 G>T FHC1056 protEffect E779X FHC1056 funChange loss of function FHC1060 commonName g. 17905T>G FHC1060 protEffect L1135R FHC1060 funChange net charge substitution 0 to +1; rod domain FHC1062 commonName g. 18153G>C FHC1062 protEffect E1218Q FHC1062 funChange net charge substitution -1 to 0; rod domain FHC1070 commonName g. 19222C>T FHC1070 protEffect T1377M FHC1070 funChange net charge substitution -1 to 0; rod domain FHC1072 commonName g. 19227G>A FHC1072 protEffect A1379T FHC1072 funChange neutral charge substitution; rod domain FHC1073 commonName g. 19236C>T FHC1073 protEffect R1382W FHC1073 funChange net charge substitution +1 to 0; rod domain FHC1080 commonName g. 21752G>A FHC1080 protEffect V1690M FHC1080 funChange neutral charge substitution; rod domain FHC1090 commonName g. 22243G>A FHC1090 protEffect A1776T FHC1090 funChange neutral charge substitution; rod domain CFMDB_1185 commonName - 816delCTC CFMDB_0 commonName - 816C- >T CFMDB_1053 commonName - 363C/T CFMDB_1517 commonName 40G/C CFMDB_1109 commonName 48C/G CFMDB_1107 commonName 99C/T CFMDB_902 commonName 125G/C CFMDB_955 commonName 129G/C CFMDB_1365 commonName 124del23bp CFMDB_3 commonName - 33G- >A CFMDB_815 commonName - 94G- >T CFMDB_901 commonName - 329A/G CFMDB_1410 commonName - 461A- >G CFMDB_5 protEffect p.Met1Val CFMDB_5 commonName M1V CFMDB_1694 protEffect p.Met1Leu CFMDB_1694 commonName M1L CFMDB_1551 commonName 107 G/A CFMDB_2 commonName - 471delAGG CFMDB_712 commonName - 102T- >A CFMDB_1675 commonName - 589G/A CFMDB_833 commonName - 790T9/8 CFMDB_1 commonName - 741T- >G CFMDB_720 commonName - 834T/G CFMDB_6 protEffect p.Met1Lys CFMDB_6 commonName M1K CFMDB_1186 protEffect p.Met1Thr CFMDB_1186 commonName M1T CFMDB_1910 protEffect p.Met1Arg CFMDB_1328 commonName 135del120ins300 CFMDB_7 protEffect p.Met1Ile CFMDB_7 commonName M1I(ATA) CFMDB_8 protEffect p.Met1Ile CFMDB_8 commonName M1I(ATT) CFMDB_9 protEffect p.Gln2X CFMDB_9 commonName Q2X (together with R3W) CFMDB_10 protEffect p.Ser4X CFMDB_10 commonName S4X CFMDB_11 protEffect p.Pro5Leu CFMDB_11 commonName P5L CFMDB_1280 protEffect p.Glu7X CFMDB_1280 commonName E7X CFMDB_876 commonName 156G/A CFMDB_872 protEffect p.Ser10Arg CFMDB_872 commonName S10R CFMDB_733 protEffect p.Val11Ile CFMDB_733 commonName 163G/A CFMDB_1800 protEffect p.Ser13IlefsX14 CFMDB_640 protEffect p.Ser13Phe CFMDB_640 commonName S13F CFMDB_12 protEffect p.Lys14X CFMDB_12 commonName K14X CFMDB_630 protEffect p.Lys14AsnfsX11 CFMDB_630 commonName 174delA CFMDB_13 protEffect p.Leu15PhefsX10 CFMDB_13 commonName 175delC CFMDB_14 protEffect p.Ser18GlnfsX27 CFMDB_14 commonName 175insT CFMDB_1442 protEffect p.Leu15Pro CFMDB_1442 commonName L15P CFMDB_1705 protEffect p.Trp19AlafsX7 CFMDB_15 protEffect p.Phe17SerfsX8 CFMDB_15 commonName 182delT CFMDB_1512 protEffect p.Ser18Gly CFMDB_1512 commonName S18G CFMDB_893 commonName 185+ 1G- >T CFMDB_16 commonName 185+ 4A- >T CFMDB_1032 commonName 185+ 45A- >G CFMDB_1636 commonName CFTR- dele2 CFMDB_17 commonName 186- 13C- >G CFMDB_18 protEffect p.Trp19Cys CFMDB_18 commonName W19C CFMDB_702 protEffect p.Trp19X CFMDB_702 commonName W19X CFMDB_1402 protEffect p.Leu24Phe CFMDB_1402 commonName L24F CFMDB_1894 protEffect p.Lys26Glu CFMDB_1463 protEffect p.Gly27Arg CFMDB_1463 commonName G27R(211G to C) CFMDB_1419 protEffect p.Gly27Arg CFMDB_1419 commonName G27R CFMDB_20 protEffect p.Gly27X CFMDB_20 commonName G27X CFMDB_19 protEffect p.Gly27AspfsX64 CFMDB_19 commonName 211delG CFMDB_21 protEffect p.Gly27Glu CFMDB_21 commonName G27E CFMDB_22 protEffect p.Gln30X CFMDB_22 commonName Q30X CFMDB_1001 protEffect p.Arg31Cys CFMDB_1001 commonName 223C/T CFMDB_860 protEffect p.Arg31Cys CFMDB_860 commonName R31C CFMDB_23 protEffect p.Arg31Leu CFMDB_23 commonName R31L CFMDB_1740 protEffect p.Leu32Pro CFMDB_587 protEffect p.Leu34_Gln39del CFMDB_587 commonName 232del18 CFMDB_24 protEffect p.Asp36ArgfsX9 CFMDB_24 commonName 237insA CFMDB_1348 protEffect p.Asp36Asn CFMDB_1348 commonName D36N CFMDB_1778 protEffect p.Ile37Val CFMDB_25 protEffect p.Tyr38ProfsX6 CFMDB_25 commonName 241delAT CFMDB_703 protEffect p.Tyr38ProfsX6 CFMDB_703 commonName 244delTA CFMDB_1875 protEffect p.Tyr38X CFMDB_1875 commonName Y38X CFMDB_26 protEffect p.Gln39X CFMDB_26 commonName Q39X CFMDB_27 protEffect p.Ser42Phe CFMDB_27 commonName S42F CFMDB_1002 protEffect p.Asp44Val CFMDB_1002 commonName 263A/T CFMDB_28 protEffect p.Asp44Gly CFMDB_28 commonName D44G CFMDB_29 protEffect p.Ala46Asp CFMDB_29 commonName A46D CFMDB_1840 protEffect p.Ala46Val CFMDB_1840 commonName A46V CFMDB_699 commonName 279A/G CFMDB_874 protEffect p.Ser50Pro CFMDB_874 commonName S50P CFMDB_31 protEffect p.Ser50Tyr CFMDB_31 commonName S50Y CFMDB_32 protEffect p.Lys52AsnfsX39 CFMDB_32 commonName 284delA CFMDB_690 protEffect p.Arg55AsnfsX39 CFMDB_690 commonName 295ins8 CFMDB_33 commonName 296+ 1G- >C CFMDB_34 commonName 296+ 2T- >C CFMDB_35 commonName 296+ 12T- >C CFMDB_907 commonName 296+ 128G/C CFMDB_1331 commonName 296+ 1G- >A CFMDB_1494 protEffect p.Arg55Lys CFMDB_1494 commonName R55K CFMDB_1368 commonName 296+ 28A- >G CFMDB_1336 commonName 296+ 2T- >A CFMDB_1401 commonName 296+ 2T- >G CFMDB_1130 commonName 296+ 1G- >T CFMDB_647 commonName 296+ 9A- >T CFMDB_971 commonName 296+ 3insT CFMDB_1979 protEffect p.Tyr89ArgfsX4 CFMDB_904 commonName 297- 67A/C CFMDB_1343 commonName 297- 55C/T CFMDB_38 commonName 297- 3C- >T CFMDB_850 commonName 297- 3C- >A CFMDB_1555 commonName 297- 73 A/G CFMDB_36 commonName 297- 28insA CFMDB_1187 commonName 297- 12insA CFMDB_1626 commonName 297- 45 A- >G CFMDB_1052 commonName 297- 10T- >G CFMDB_37 commonName 297- 2A- >G CFMDB_892 commonName 297- 50A/G CFMDB_1553 commonName 297- 57 G/T CFMDB_624 protEffect p.Glu56Lys CFMDB_624 commonName E56K CFMDB_39 protEffect p.Glu56AspfsX35 CFMDB_39 commonName 300delA CFMDB_731 protEffect p.Trp57Arg CFMDB_731 commonName W57R CFMDB_40 protEffect p.Trp57Gly CFMDB_40 commonName W57G CFMDB_41 protEffect p.Trp57X CFMDB_41 commonName W57X(TAG) CFMDB_1143 protEffect p.Trp57X CFMDB_1143 commonName W57X(TGA) CFMDB_625 protEffect p.Asp58Asn CFMDB_625 commonName D58N CFMDB_1119 protEffect p.Asp58Gly CFMDB_1119 commonName D58G CFMDB_43 protEffect p.Arg59LysfsX10 CFMDB_43 commonName 306insA CFMDB_42 protEffect p.Asp58GlufsX32 CFMDB_42 commonName 306delTAGA CFMDB_1123 protEffect p.Glu60Lys CFMDB_1123 commonName E60K CFMDB_44 protEffect p.Glu60X CFMDB_44 commonName E60X CFMDB_1465 protEffect p.Leu61Pro CFMDB_1465 commonName L61P CFMDB_1355 protEffect p.Lys64Glu CFMDB_1355 commonName K64E CFMDB_45 protEffect p.Asn66Ser CFMDB_45 commonName N66S CFMDB_46 protEffect p.Pro67Leu CFMDB_46 commonName P67L CFMDB_810 protEffect p.Lys68Glu CFMDB_810 commonName K68E CFMDB_47 protEffect p.Lys68Asn CFMDB_47 commonName K68N CFMDB_1717 protEffect p.Leu69Arg CFMDB_1003 commonName 345T/C CFMDB_1045 protEffect p.Ala72Thr CFMDB_1045 commonName A72T CFMDB_48 protEffect p.Leu73PhefsX18 CFMDB_48 commonName 347delC CFMDB_648 protEffect p.Ala72Asp CFMDB_648 commonName A72D CFMDB_49 protEffect p.Arg74Trp CFMDB_49 commonName R74W CFMDB_1082 protEffect p.Arg74Gln CFMDB_1082 commonName R74Q CFMDB_50 protEffect p.Arg75X CFMDB_50 commonName R75X CFMDB_1004 protEffect p.Arg75Gln CFMDB_1004 commonName R75Q CFMDB_51 protEffect p.Arg75Leu CFMDB_51 commonName R75L CFMDB_52 protEffect p.Trp79LeufsX32 CFMDB_52 commonName 359insT CFMDB_1715 protEffect p.Cys76Trp CFMDB_1439 protEffect p.Trp79LeufsX32 CFMDB_1439 commonName 365- 366insT (W79fs) CFMDB_805 protEffect p.Phe78SerfsX13 CFMDB_805 commonName 360delT CFMDB_1334 protEffect p.Trp79LeufsX32 CFMDB_1334 commonName 360- 365insT CFMDB_1781 protEffect p.Trp79GlyfsX12 CFMDB_53 protEffect p.Trp79Arg CFMDB_53 commonName W79R CFMDB_54 protEffect p.Trp79X CFMDB_54 commonName W79X CFMDB_1548 protEffect p.Met82Val CFMDB_1548 commonName M82V CFMDB_1335 protEffect p.Tyr84LeufsX27 CFMDB_1335 commonName 379- 381insT CFMDB_1583 protEffect p.Tyr84His CFMDB_1583 commonName Y84H CFMDB_56 protEffect p.Gly85Val CFMDB_56 commonName G85V CFMDB_55 protEffect p.Gly85Glu CFMDB_55 commonName G85E CFMDB_58 protEffect p.Phe87Leu CFMDB_58 commonName F87L CFMDB_1728 protEffect p.Phe87Ile CFMDB_1848 protEffect p.Phe87Ser CFMDB_1848 commonName F87S CFMDB_57 protEffect p.Leu88IlefsX22 CFMDB_57 commonName 394delTT CFMDB_59 protEffect p.Leu88Ser CFMDB_59 commonName L88S CFMDB_61 protEffect p.Leu88X CFMDB_61 commonName L88X(T- >G) CFMDB_60 protEffect p.Leu88X CFMDB_60 commonName L88X(T- >A) CFMDB_1988 protEffect p.Leu88PhefsX21 CFMDB_1092 protEffect p.Tyr89Cys CFMDB_1092 commonName Y89C CFMDB_1133 protEffect p.Leu90Ser CFMDB_1133 commonName L90S CFMDB_62 protEffect p.Gly91Arg CFMDB_62 commonName G91R CFMDB_64 commonName 405+ 3A- >C CFMDB_1826 commonName 405+ 10247C>T CFMDB_1827 commonName 405+ 10255delC CFMDB_63 commonName 405+ 1G- >A CFMDB_840 commonName 405+ 42A/G CFMDB_65 commonName 405+ 4A- >G CFMDB_905 commonName 405+ 46G/T CFMDB_1203 commonName 406- 13T/C CFMDB_66 commonName 406- 10C- >G CFMDB_67 commonName 406- 6T- >C CFMDB_848 commonName 406- 3T- >C CFMDB_68 commonName 406- 2A- >C CFMDB_69 commonName 406- 1G- >C CFMDB_70 commonName 406- 1G- >T CFMDB_906 commonName 406- 112T/A CFMDB_631 commonName 406- 2A- >G CFMDB_1671 commonName 406- 82T/A CFMDB_71 protEffect p.Glu92Lys CFMDB_71 commonName E92K CFMDB_72 protEffect p.Glu92X CFMDB_72 commonName E92X CFMDB_885 commonName 406- 1G- >A CFMDB_1403 commonName 406- 5T- >G CFMDB_1065 commonName 406- 83A/G CFMDB_1422 protEffect p.Glu92Asp CFMDB_1422 commonName E92D CFMDB_1815 protEffect p.Val93Asp CFMDB_636 protEffect p.Thr94GlnfsX11 CFMDB_636 commonName 412del7- >TA CFMDB_1134 protEffect p.Ala96Glu CFMDB_1134 commonName A96E CFMDB_73 protEffect p.Gln98X CFMDB_73 commonName Q98X CFMDB_74 protEffect p.Gln98Arg CFMDB_74 commonName Q98R CFMDB_1214 protEffect p.Gln98Pro CFMDB_1214 commonName Q98P CFMDB_75 protEffect p.Pro99Leu CFMDB_75 commonName P99L CFMDB_1352 protEffect p.Leu101Ser CFMDB_1352 commonName L101S CFMDB_593 protEffect p.Leu101X CFMDB_593 commonName L101X CFMDB_76 protEffect p.Leu102ThrfsX9 CFMDB_76 commonName 435insA CFMDB_1485 protEffect p.Leu102Arg CFMDB_1485 commonName L102R CFMDB_1254 protEffect p.Leu102Pro CFMDB_1254 commonName L102P CFMDB_77 protEffect p.Gly103X CFMDB_77 commonName G103X CFMDB_78 protEffect p.Arg104GlufsX3 CFMDB_78 commonName 441delA CFMDB_79 protEffect p.Ile105SerfsX2 CFMDB_79 commonName 444delA CFMDB_1108 protEffect p.Ile105Asn CFMDB_1108 commonName I105N CFMDB_735 protEffect p.Ala107X CFMDB_735 commonName 451del8 CFMDB_1629 protEffect p.Ala107Gly CFMDB_1629 commonName A107G CFMDB_80 protEffect p.Ser108Phe CFMDB_80 commonName S108F CFMDB_891 protEffect p.Tyr109Asn CFMDB_891 commonName Y109N CFMDB_81 protEffect p.Tyr109GlyfsX4 CFMDB_81 commonName 457TAT- >G CFMDB_1811 protEffect p.Tyr109His CFMDB_82 protEffect p.Tyr109Cys CFMDB_82 commonName Y109C CFMDB_863 protEffect p.Tyr109X CFMDB_863 commonName 458delAT CFMDB_1342 protEffect p.Tyr109X CFMDB_1342 commonName Y109X CFMDB_1290 protEffect p.Asp110Asn CFMDB_1290 commonName D110N CFMDB_84 protEffect p.Asp110His CFMDB_84 commonName D110H CFMDB_1124 protEffect p.Asp110Tyr CFMDB_1124 commonName D110Y CFMDB_83 protEffect p.Asp110ThrfsX14 CFMDB_83 commonName 460delG CFMDB_1097 protEffect p.Asp110Glu CFMDB_1097 commonName D110E CFMDB_696 protEffect p.Pro111Ala CFMDB_696 commonName P111A CFMDB_85 protEffect p.Pro111Leu CFMDB_85 commonName P111L CFMDB_1062 commonName 465G/A CFMDB_1630 protEffect p.Asn113Ile CFMDB_1630 commonName N113I CFMDB_1416 protEffect p.Lys114X CFMDB_1416 commonName K114X CFMDB_86 protEffect p.Glu115del CFMDB_86 commonName [delta]E115 CFMDB_1116 protEffect p.Glu116Gln CFMDB_1116 commonName E116Q CFMDB_87 protEffect p.Glu116Lys CFMDB_87 commonName E116K CFMDB_88 protEffect p.Arg117Cys CFMDB_88 commonName R117C CFMDB_1464 protEffect p.Arg117Gly CFMDB_1464 commonName R117G CFMDB_89 protEffect p.Arg117His CFMDB_89 commonName R117H CFMDB_90 protEffect p.Arg117Pro CFMDB_90 commonName R117P CFMDB_91 protEffect p.Arg117Leu CFMDB_91 commonName R117L CFMDB_1231 protEffect p.Ile119Val CFMDB_1231 commonName I119V CFMDB_1423 protEffect p.Ile119MetfsX5 CFMDB_1423 commonName 489delC CFMDB_1552 commonName 489 C/T CFMDB_92 protEffect p.Ala120Thr CFMDB_92 commonName A120T CFMDB_1278 protEffect p.Ala120Val CFMDB_1278 commonName A120V CFMDB_1005 commonName 492G/A CFMDB_1495 protEffect p.Tyr122His CFMDB_1495 commonName Y122H CFMDB_1624 protEffect p.Tyr122Cys CFMDB_1624 commonName Y122C CFMDB_93 protEffect p.Tyr122X CFMDB_93 commonName Y122X CFMDB_1850 protEffect p.Gly124Arg CFMDB_1850 commonName G124R CFMDB_882 protEffect p.Ile125Thr CFMDB_882 commonName I125T CFMDB_1729 protEffect p.Gly126Ser CFMDB_94 protEffect p.Gly126Asp CFMDB_94 commonName G126D CFMDB_1864 protEffect p.Leu127dup CFMDB_1864 commonName L127dup CFMDB_95 protEffect p.Leu127X CFMDB_95 commonName L127X CFMDB_1805 protEffect p.Cys128Arg CFMDB_1447 protEffect p.Leu130SerfsX? CFMDB_1447 commonName 519delT CFMDB_1693 protEffect p.Leu130Val CFMDB_1693 commonName L130V CFMDB_857 protEffect p.Phe131LeufsX3 CFMDB_857 commonName 525delT CFMDB_739 protEffect p.Ile132Met CFMDB_739 commonName I132M CFMDB_1877 protEffect p.Leu136HisfsX18 CFMDB_96 protEffect p.Leu137SerfsX16 CFMDB_96 commonName 541delC CFMDB_97 protEffect p.Leu137TyrfsX15 CFMDB_97 commonName 541del4 CFMDB_649 protEffect p.Leu137Pro CFMDB_649 commonName L137P CFMDB_611 protEffect p.Leu137His CFMDB_611 commonName L137H CFMDB_732 protEffect p.Leu137Arg CFMDB_732 commonName L137R CFMDB_626 protEffect p.Leu137_Leu138insThr CFMDB_626 commonName L138ins CFMDB_1006 protEffect p.Leu138Pro CFMDB_1006 commonName 545T/C CFMDB_1118 protEffect p.Leu139X CFMDB_1118 commonName 546insCTA CFMDB_650 protEffect p.His139LeufsX15 CFMDB_650 commonName 547insTA CFMDB_1589 protEffect p.His139ArgfsX15 CFMDB_1589 commonName 547insGA CFMDB_1217 protEffect p.His139Leu CFMDB_1217 commonName H139L CFMDB_98 protEffect p.His139Arg CFMDB_98 commonName H139R CFMDB_711 commonName 549C/T CFMDB_99 protEffect p.Pro140Ser CFMDB_99 commonName P140S CFMDB_802 protEffect p.Pro140Leu CFMDB_802 commonName P140L CFMDB_100 protEffect p.Ala141SerfsX18 CFMDB_100 commonName 552insA CFMDB_101 protEffect p.Ala141Asp CFMDB_101 commonName A141D CFMDB_102 protEffect p.Ile142PhefsX11 CFMDB_102 commonName 556delA CFMDB_103 protEffect p.Phe143LeufsX10 CFMDB_103 commonName 557delT CFMDB_600 protEffect p.Leu145PhefsX8 CFMDB_600 commonName 565delC CFMDB_1473 protEffect p.Leu145His CFMDB_1473 commonName L145H CFMDB_651 protEffect p.His146Arg CFMDB_651 commonName H146R CFMDB_1774 protEffect p.Ile148Phe CFMDB_104 protEffect p.Ile148LeufsX5 CFMDB_104 commonName 574delA CFMDB_601 protEffect p.Ile148Asn CFMDB_601 commonName I148N CFMDB_105 protEffect p.Ile148Thr CFMDB_105 commonName I148T CFMDB_1295 protEffect p.Leu149ins CFMDB_1295 commonName 576insCTA CFMDB_106 protEffect p.Gly149Arg CFMDB_106 commonName G149R CFMDB_1806 protEffect p.Gly149X CFMDB_1521 protEffect p.Gly149Val CFMDB_1521 commonName G149V CFMDB_1424 protEffect p.Gln151Lys CFMDB_1424 commonName Q151K CFMDB_107 protEffect p.Gln151X CFMDB_107 commonName Q151X CFMDB_108 protEffect p.Met152Val CFMDB_108 commonName M152V CFMDB_1524 protEffect p.Met152Leu CFMDB_1524 commonName M152L CFMDB_979 protEffect p.Met152Arg CFMDB_979 commonName M152R CFMDB_109 protEffect p.Ala155_Ile160del CFMDB_109 commonName 591del18 CFMDB_843 protEffect p.Ala155Pro CFMDB_843 commonName A155P CFMDB_1731 protEffect p.Phe157Tyr CFMDB_1188 protEffect p.Ser158Arg CFMDB_1188 commonName S158R CFMDB_1989 protEffect p.Ser158LysfsX5 CFMDB_1644 protEffect p.Ser158Asn CFMDB_1644 commonName S158N CFMDB_1613 protEffect p.Ser158Thr CFMDB_1613 commonName S158T CFMDB_1723 protEffect p.Ser158Asn CFMDB_110 protEffect p.Leu159PhefsX4 CFMDB_110 commonName 605insT CFMDB_1132 protEffect p.Leu159X CFMDB_1132 commonName L159X CFMDB_1271 protEffect p.Leu159Ser CFMDB_1271 commonName L159S CFMDB_1064 protEffect No Changes CFMDB_1064 commonName 612T/A CFMDB_1178 protEffect p.Tyr161Asn CFMDB_1178 commonName Y161N CFMDB_996 protEffect p.Tyr161Asp CFMDB_996 commonName Y161D CFMDB_1063 protEffect p.Tyr161Ser CFMDB_1063 commonName Y161S CFMDB_798 protEffect p.Lys162Glu CFMDB_798 commonName K162E CFMDB_1860 protEffect p.Lys163Thr CFMDB_1860 commonName K163T CFMDB_113 commonName 621+ 2T- >C CFMDB_1061 commonName 621+ 31C/G CFMDB_111 commonName 621G- >A CFMDB_112 commonName 621+ 1G- >T CFMDB_114 commonName 621+ 2T- >G CFMDB_836 commonName 621+ 3A- >G CFMDB_988 commonName 622- 152G/C CFMDB_1572 commonName 622- 16 T/C CFMDB_115 commonName 622- 2A- >C CFMDB_116 commonName 622- 1G- >A CFMDB_822 commonName 622- 103A/G CFMDB_1420 commonName 622- 2A- >G CFMDB_986 commonName 622- 116A/G CFMDB_1874 protEffect p.Thr164Ala CFMDB_1874 commonName T164A CFMDB_117 protEffect p.Leu165X CFMDB_117 commonName 624delT CFMDB_118 protEffect p.Leu165Ser CFMDB_118 commonName L165S CFMDB_119 protEffect p.Lys166Glu CFMDB_119 commonName K166Q CFMDB_1735 protEffect p.Leu167Arg CFMDB_120 protEffect p.Arg170Cys CFMDB_120 commonName R170C CFMDB_868 protEffect p.Arg170Gly CFMDB_868 commonName R170G CFMDB_1183 protEffect p.Arg170His CFMDB_1183 commonName R170H CFMDB_1679 protEffect p.Ile175TyrfsX6 CFMDB_1679 commonName 650delATAAA CFMDB_121 protEffect p.Ile175Val CFMDB_121 commonName I175V CFMDB_122 protEffect p.Ser176ValfsX13 CFMDB_122 commonName 657delA CFMDB_652 protEffect p.Ile177Thr CFMDB_652 commonName I177T CFMDB_888 protEffect p.Ile177MetfsX12 CFMDB_888 commonName 663delT CFMDB_1856 protEffect p.Ile177Met CFMDB_1856 commonName I177M CFMDB_123 protEffect p.Gly178Arg CFMDB_123 commonName G178R CFMDB_1441 protEffect p.Gly178Glu CFMDB_1441 commonName G178E CFMDB_1079 protEffect p.Gln179Lys CFMDB_1079 commonName Q179K CFMDB_823 protEffect p.Leu183PhefsX5 CFMDB_823 commonName 675del4 CFMDB_1008 protEffect p.Ser182Gly CFMDB_1008 commonName 676A/G CFMDB_1466 protEffect p.Leu183Ile CFMDB_1466 commonName L183I CFMDB_124 protEffect p.Leu184PhefsX5 CFMDB_124 commonName 681delC CFMDB_878 protEffect p.Asn186Lys CFMDB_878 commonName N186K CFMDB_987 protEffect p.Asn187Lys CFMDB_987 commonName N187K CFMDB_1525 protEffect p.Asn189Ser CFMDB_1525 commonName N189S CFMDB_1482 protEffect p.Asn189Lys CFMDB_1482 commonName N189K CFMDB_127 protEffect p.Asp192del CFMDB_127 commonName [delta]D192 CFMDB_125 protEffect p.Asp192Asn CFMDB_125 commonName D192N CFMDB_126 protEffect p.Asp192Gly CFMDB_126 commonName D192G CFMDB_128 protEffect p.Glu193Lys CFMDB_128 commonName E193K CFMDB_129 protEffect p.Glu193X CFMDB_129 commonName E193X CFMDB_1690 protEffect p.Glu193ValfsX20 CFMDB_1690 commonName 710_711+ 5del7 CFMDB_131 commonName 711+ 3A- >C CFMDB_130 commonName 711+ 1G- >T CFMDB_653 commonName 711+ 34A- >G CFMDB_132 commonName 711+ 3A- >G CFMDB_133 commonName 711+ 3A- >T CFMDB_134 commonName 711+ 5G- >A CFMDB_135 commonName 712- 1G- >T CFMDB_691 commonName 712- 92T/A CFMDB_1487 protEffect p.Gly194Arg CFMDB_1487 commonName G194R CFMDB_1135 protEffect p.Gly194Val CFMDB_1135 commonName G194V CFMDB_1068 protEffect p.Ala198Pro CFMDB_1068 commonName A198P CFMDB_1841 protEffect p.Ala198Thr CFMDB_1841 commonName A198T CFMDB_136 protEffect p.His199Tyr CFMDB_136 commonName H199Y CFMDB_1296 protEffect p.His199Arg CFMDB_1296 commonName H199R CFMDB_137 protEffect p.His199Gln CFMDB_137 commonName H199Q CFMDB_1224 protEffect p.Phe200Ile CFMDB_1224 commonName F200I CFMDB_1136 protEffect p.Val201Met CFMDB_1136 commonName V201M CFMDB_1647 protEffect p.Val201CysfsX14 CFMDB_1647 commonName 733delG CFMDB_1277 protEffect p.Trp202X CFMDB_1277 commonName W202X CFMDB_1009 commonName 741C/T CFMDB_1438 protEffect p.Ile203Met CFMDB_1438 commonName I203M CFMDB_138 protEffect p.Pro205Ser CFMDB_138 commonName P205S CFMDB_1297 protEffect p.Pro205Arg CFMDB_1297 commonName P205R CFMDB_1895 protEffect p.Pro205Leu CFMDB_139 protEffect p.Leu206Trp CFMDB_139 commonName L206W CFMDB_725 protEffect p.Leu206Phe CFMDB_725 commonName L206F CFMDB_140 protEffect p.Gln207X CFMDB_140 commonName Q207X CFMDB_942 protEffect p.Ala209Ser CFMDB_942 commonName A209S CFMDB_974 commonName 759A/G (A209A)) CFMDB_1347 protEffect p.Leu210Pro CFMDB_1347 commonName L210P CFMDB_1298 commonName G213V CFMDB_997 protEffect p.Trp216X CFMDB_997 commonName W216X CFMDB_1684 protEffect p.Trp216Cys CFMDB_1684 commonName W216C CFMDB_844 protEffect p.Glu217Gly CFMDB_844 commonName E217G CFMDB_1794 protEffect p.Glu217GlyfsX11 CFMDB_585 protEffect p.Leu218X CFMDB_585 commonName L218X CFMDB_141 protEffect p.Gln220X CFMDB_141 commonName Q220X CFMDB_894 protEffect p.Gln220Arg CFMDB_894 commonName Q220R CFMDB_1449 commonName 795G/A CFMDB_142 protEffect p.Cys225Arg CFMDB_142 commonName C225R CFMDB_646 protEffect p.Cys225X CFMDB_646 commonName C225X CFMDB_143 protEffect p.Leu227Arg CFMDB_143 commonName L227R CFMDB_144 protEffect p.Val232Asp CFMDB_144 commonName V232D CFMDB_1865 protEffect p.Leu233Phe CFMDB_1865 commonName L233F CFMDB_1701 protEffect p.Ala234Asp CFMDB_1789 protEffect p.Gln237ArgfsX4 CFMDB_145 protEffect p.Gln237Glu CFMDB_145 commonName Q237E CFMDB_1869 protEffect p.Gln237His CFMDB_1869 commonName Q237H CFMDB_1537 protEffect p.Ala238Val CFMDB_1537 commonName A238V CFMDB_1801 protEffect p.Leu240X CFMDB_146 protEffect p.Gly239Arg CFMDB_146 commonName G239R CFMDB_2014 protEffect p.Leu240X CFMDB_147 protEffect p.Gly241GlufsX13 CFMDB_147 commonName 852del22 CFMDB_635 protEffect p.Gly241Arg CFMDB_635 commonName G241R CFMDB_1013 protEffect p.Met243Leu CFMDB_1013 commonName M243L CFMDB_1946 protEffect p.Met243Val CFMDB_148 protEffect p.Met244Lys CFMDB_148 commonName M244K CFMDB_1010 commonName 873C/T CFMDB_149 protEffect p.Tyr247X CFMDB_149 commonName Y247X CFMDB_1503 protEffect p.Arg248IlefsX? CFMDB_1503 commonName 874Ins TACA CFMDB_151 commonName 875+ 1G- >C CFMDB_820 protEffect p.Arg248Thr CFMDB_820 commonName R248T CFMDB_150 commonName 875+ 1G- >A CFMDB_909 commonName 875+ 40A/G CFMDB_1828 commonName 875+ 4G>T CFMDB_1571 commonName 876- 8 A- >C CFMDB_1036 commonName 876- 3C- >T CFMDB_152 commonName 876- 14del12 CFMDB_153 commonName 876- 10del8 CFMDB_910 commonName TTGA repeats CFMDB_1845 protEffect p.Glu257Lys CFMDB_1845 commonName E257K CFMDB_154 protEffect p.Arg258Gly CFMDB_154 commonName R258G CFMDB_155 protEffect p.Arg258AsnfsX3 CFMDB_155 commonName 905delG CFMDB_1748 protEffect p.Leu259SerfsX7 CFMDB_156 protEffect p.Met265Arg CFMDB_156 commonName M265R CFMDB_968 protEffect p.Asn268IlefsX17 CFMDB_968 commonName 935delA CFMDB_157 protEffect p.Ile269ProfsX4 CFMDB_157 commonName 936delTA CFMDB_1779 protEffect p.Tyr275X CFMDB_158 protEffect p.Cys276X CFMDB_158 commonName C276X CFMDB_1418 protEffect p.Trp277Arg CFMDB_1418 commonName W277R CFMDB_762 protEffect p.Glu279del CFMDB_762 commonName E278del CFMDB_1687 protEffect p.Glu279Asp CFMDB_1687 commonName E279D CFMDB_1539 protEffect p.Glu279Asp CFMDB_1539 commonName E279D CFMDB_1272 protEffect p.Met281Thr CFMDB_1272 commonName M281T CFMDB_159 protEffect p.Met284AsnfsX3 CFMDB_159 commonName 977insA CFMDB_1846 protEffect p.Glu282Asp CFMDB_1846 commonName E282D CFMDB_1506 protEffect p.Ile285Phe CFMDB_1506 commonName I285F CFMDB_1281 protEffect p.Asn287LysfsX21 CFMDB_1281 commonName 989- 992insA CFMDB_591 protEffect p.Asn287Tyr CFMDB_591 commonName N287Y CFMDB_654 protEffect p.Asn287LysfsX19 CFMDB_654 commonName 991del5 CFMDB_1788 protEffect p.Asn287Lys CFMDB_856 protEffect p.Leu288fsX? CFMDB_856 commonName 994del9 CFMDB_160 protEffect p.Gln290X CFMDB_160 commonName Q290X CFMDB_1329 protEffect p.Asn287LysfsX21 CFMDB_1329 commonName 1001+ 4A- >C+ 993delCTTAA CFMDB_911 commonName 1001+ 11C/T CFMDB_912 commonName 1001+ 12C/T CFMDB_1386 commonName 1001+ 3A>T CFMDB_913 commonName 1002- 56C/G CFMDB_1387 commonName 1002- 7delTTT CFMDB_1663 commonName 1002- 2A>G CFMDB_161 commonName 1002- 3T- >G CFMDB_655 protEffect p.Glu292Lys CFMDB_655 commonName E292K CFMDB_1299 protEffect p.Leu293Met CFMDB_1299 commonName L293M CFMDB_162 protEffect p.Lys294ThrfsX13 CFMDB_162 commonName 1013delAA CFMDB_749 protEffect p.Arg297Trp CFMDB_749 commonName R297W CFMDB_163 protEffect p.Arg297Gln CFMDB_163 commonName R297Q CFMDB_1144 protEffect p.Ala299Thr CFMDB_1144 commonName A299T CFMDB_164 protEffect p.Tyr301Cys CFMDB_164 commonName Y301C CFMDB_165 protEffect p.Tyr304X CFMDB_165 commonName Y304X CFMDB_1516 protEffect p.Phe305Val CFMDB_1516 commonName F305V CFMDB_1011 commonName 1047C/T CFMDB_832 protEffect p.Ser307Asn CFMDB_832 commonName S307N CFMDB_1300 protEffect p.Ala309Thr CFMDB_1300 commonName A309T CFMDB_167 protEffect p.Phe310SerfsX18 CFMDB_167 commonName 1058delC CFMDB_1301 protEffect p.Ala309Val CFMDB_1301 commonName A309V CFMDB_656 protEffect p.Ala309Gly CFMDB_656 commonName A309G CFMDB_166 protEffect p.Ala309Asp CFMDB_166 commonName A309D CFMDB_859 commonName A309A (1059C/G) CFMDB_168 protEffect p.Phe312del CFMDB_168 commonName [delta]F311 CFMDB_169 protEffect p.Phe311Leu CFMDB_169 commonName F311L CFMDB_1483 protEffect p.Ser313X CFMDB_1483 commonName S313X CFMDB_170 protEffect p.Gly314Arg CFMDB_170 commonName G314R CFMDB_737 protEffect p.Gly314Val CFMDB_737 commonName G314V CFMDB_171 protEffect p.Gly314Glu CFMDB_171 commonName G314E CFMDB_1163 protEffect p.Phe316Leu CFMDB_1163 commonName F316L CFMDB_172 protEffect p.Phe316LeufsX12 CFMDB_172 commonName 1078delT CFMDB_173 protEffect p.Val317Ala CFMDB_173 commonName V317A CFMDB_1367 commonName 1086G/A CFMDB_1886 protEffect p.Phe319Val CFMDB_174 protEffect p.Leu320Val CFMDB_174 commonName L320V CFMDB_1228 protEffect p.Leu320X CFMDB_1228 commonName L320X CFMDB_1173 commonName 1092A/G CFMDB_175 protEffect p.Leu320Phe CFMDB_175 commonName L320F CFMDB_1405 protEffect p.Ser321Pro CFMDB_1405 commonName S321P CFMDB_870 protEffect p.Val322Met CFMDB_870 commonName V322M (1096(G/A)) CFMDB_176 protEffect p.Val322Ala CFMDB_176 commonName V322A CFMDB_746 commonName 1098G/A CFMDB_1698 protEffect p.Pro324Leu CFMDB_1698 commonName P324L CFMDB_871 commonName 1104(C/G) CFMDB_1873 protEffect p.Tyr325Cys CFMDB_1873 commonName Y325C CFMDB_1786 protEffect p.Tyr325Cys CFMDB_177 protEffect p.Leu327Arg CFMDB_177 commonName L327R CFMDB_825 protEffect p.Leu327GlnfsX42 CFMDB_825 commonName 1112delT CFMDB_178 protEffect p.Gly330GlufsX39 CFMDB_178 commonName 1119delA CFMDB_179 protEffect p.Gly330X CFMDB_179 commonName G330X CFMDB_1692 protEffect p.Ile331Asn CFMDB_1692 commonName I331N CFMDB_1866 protEffect p.Leu333Phe CFMDB_1866 commonName L333F CFMDB_180 protEffect p.Arg334Trp CFMDB_180 commonName R334W CFMDB_632 protEffect p.Arg334Leu CFMDB_632 commonName R334L CFMDB_181 protEffect p.Arg334Gln CFMDB_181 commonName R334Q CFMDB_182 protEffect p.Ile336SerfsX28 CFMDB_182 commonName 1138insG CFMDB_1911 protEffect p.Ile336Leu CFMDB_183 protEffect p.Ile336Lys CFMDB_183 commonName I336K CFMDB_1496 protEffect p.Thr338Ala CFMDB_1496 commonName T338A CFMDB_184 protEffect p.Thr338Ile CFMDB_184 commonName T338I CFMDB_1587 protEffect p.Thr339del CFMDB_1587 commonName [delta]T339 CFMDB_1681 protEffect p.Phe342HisfsX28 CFMDB_1681 commonName 1150insTC CFMDB_185 protEffect p.Ile340SerfsX29 CFMDB_185 commonName 1150delA CFMDB_1302 protEffect p.Ile340Asn CFMDB_1302 commonName I340N CFMDB_1371 protEffect p.Phe337_Ile340dup CFMDB_1371 commonName 1151ins12 CFMDB_1477 protEffect p.Ser341Pro CFMDB_1477 commonName S341P CFMDB_186 protEffect p.Phe342HisfsX28 CFMDB_186 commonName 1154insTC CFMDB_187 protEffect p.Cys343X CFMDB_187 commonName 1161delC CFMDB_188 protEffect p.Ile344AspfsX20 CFMDB_188 commonName 1161insG CFMDB_1554 commonName 1164 T/A CFMDB_1887 protEffect p.Leu346Leu CFMDB_189 protEffect p.Leu346Pro CFMDB_189 commonName L346P CFMDB_190 protEffect p.Arg347Cys CFMDB_190 commonName R347C CFMDB_191 protEffect p.Arg347His CFMDB_191 commonName R347H CFMDB_192 protEffect p.Arg347Leu CFMDB_192 commonName R347L CFMDB_193 protEffect p.Arg347Pro CFMDB_193 commonName R347P CFMDB_1467 protEffect p.Met348Val CFMDB_1467 commonName M348V CFMDB_194 protEffect p.Met348Lys CFMDB_194 commonName M348K CFMDB_1545 protEffect p.Met348Thr CFMDB_1545 commonName M348T CFMDB_195 protEffect p.Ala349Val CFMDB_195 commonName A349V CFMDB_864 protEffect p.Thr351Ser CFMDB_864 commonName T351S CFMDB_1699 protEffect p.Thr351Ile CFMDB_1699 commonName T351I CFMDB_1395 protEffect p.Arg352AlafsX11 CFMDB_1395 commonName 1185delTC CFMDB_1346 protEffect p.Arg352Gly CFMDB_1346 commonName R352G CFMDB_605 protEffect p.Arg352Trp CFMDB_605 commonName R352W CFMDB_196 protEffect p.Arg352Gln CFMDB_196 commonName R352Q CFMDB_1099 protEffect p.Gln353X CFMDB_1099 commonName Q353X CFMDB_865 protEffect p.Gln353His CFMDB_865 commonName Q353H CFMDB_1535 protEffect p.Pro355Ser CFMDB_1535 commonName P355S CFMDB_1408 protEffect p.Trp356Ser CFMDB_1408 commonName W356S CFMDB_657 protEffect p.Ala357LeufsX12 CFMDB_657 commonName 1199delG CFMDB_803 protEffect p.Trp356X CFMDB_803 commonName W356X CFMDB_197 protEffect p.[Gln359Lys;Thr360Lys] CFMDB_197 commonName Q359K/T360K CFMDB_1146 protEffect p.Gln359Arg CFMDB_1146 commonName Q359R CFMDB_704 protEffect p.Thr360Arg CFMDB_704 commonName T360R CFMDB_199 protEffect p.Trp361Arg CFMDB_199 commonName W361R(T- >C) CFMDB_1042 protEffect p.Trp361Arg CFMDB_1042 commonName W361R(T- >A) CFMDB_198 protEffect p.Trp361GlyfsX8 CFMDB_198 commonName 1213delT CFMDB_200 protEffect p.Trp361CysfsX8 CFMDB_200 commonName 1215delG CFMDB_1754 protEffect p.Tyr362X CFMDB_1792 protEffect p.Tyr362X CFMDB_201 protEffect p.Leu365TrpfsX16 CFMDB_201 commonName 1221delCT CFMDB_1893 protEffect p.Asp363_Ser364delinsGluIle CFMDB_202 protEffect p.Ser364Pro CFMDB_202 commonName S364P CFMDB_1125 protEffect p.Leu365Pro CFMDB_1125 commonName L365P CFMDB_1667 commonName 1233A/T CFMDB_203 protEffect p.Lys370_Ile371insThrLys CFMDB_203 commonName 1243ins6 CFMDB_1969 protEffect p.Gln372X CFMDB_1303 commonName 1248+ 1G- >C CFMDB_914 commonName 1248+ 17C- >T CFMDB_1570 commonName 1248+ 31 A/C CFMDB_592 commonName 1248+ 52T/C CFMDB_204 commonName 1248+ 1G- >A CFMDB_915 commonName 1249- 82C/T CFMDB_205 commonName 1249- 5A- >G CFMDB_1611 commonName 1249- 31A- >G CFMDB_883 commonName 1249- 27delTA CFMDB_586 commonName 1249- 30delAT CFMDB_1576 protEffect p.Asp373Glu CFMDB_1576 commonName D373E CFMDB_206 protEffect p.Leu375Phe CFMDB_206 commonName L375F CFMDB_588 protEffect p.Gln378AlafsX4 CFMDB_588 commonName 1259insA CFMDB_1261 protEffect p.Gln378Arg CFMDB_1261 commonName Q378R CFMDB_1225 protEffect p.Glu379Lys CFMDB_1225 commonName E379K CFMDB_1129 protEffect p.Glu379X CFMDB_1129 commonName E379X CFMDB_710 protEffect p.Leu383Ser CFMDB_710 commonName L383S CFMDB_1147 commonName L383L (1281G/A) CFMDB_207 protEffect p.Glu384AspfsX4 CFMDB_207 commonName 1283delA CFMDB_1362 protEffect p.Asn386IlefsX3 CFMDB_1362 commonName 1288insTA CFMDB_1683 protEffect p.Leu387ThrfsX2 CFMDB_1683 commonName 1289insTA CFMDB_1269 protEffect p.Leu387AsnfsX23 CFMDB_1269 commonName 1291delTT CFMDB_695 protEffect p.Thr388GlnfsX3 CFMDB_695 commonName 1294del7 CFMDB_208 protEffect p.Thr388X CFMDB_208 commonName T388X CFMDB_658 protEffect p.Thr388Met CFMDB_658 commonName T388M CFMDB_209 commonName 1296G/T CFMDB_659 protEffect p.Val392Ala CFMDB_659 commonName V392A CFMDB_816 protEffect p.Val392Gly CFMDB_816 commonName V392G CFMDB_604 protEffect p.Val393X CFMDB_604 commonName 1309delG CFMDB_1137 protEffect p.Met394Arg CFMDB_1137 commonName M394R CFMDB_1680 protEffect p.Asn396Tyr CFMDB_1680 commonName N369Y CFMDB_1000 protEffect p.Thr398AsnfsX13 CFMDB_1000 commonName 1323insA CFMDB_1685 protEffect p.Ala399Val CFMDB_1685 commonName I1328T CFMDB_1273 protEffect p.Ala399Asp CFMDB_1273 commonName A399D CFMDB_1083 protEffect p.Ala399Val CFMDB_1083 commonName A399V CFMDB_718 protEffect p.Trp401X CFMDB_718 commonName W401X(TAG) CFMDB_211 protEffect p.Trp401X CFMDB_211 commonName W401X(TGA) CFMDB_212 commonName 1341+ 18A- >C CFMDB_980 commonName 1341+ 28C/T CFMDB_1569 commonName 1341+ 79 C/T CFMDB_1148 protEffect p.Glu403Asp CFMDB_1148 commonName E403D CFMDB_618 commonName 1341+ 1G- >A CFMDB_1509 commonName 1341+ 80G>A CFMDB_1041 commonName 1341G- >A CFMDB_1639 commonName 1341+ 6 A- >G CFMDB_1361 commonName poly- T tract variations CFMDB_214 commonName 1342- 2A- >C CFMDB_873 commonName 1342- 1G- >C CFMDB_215 commonName 1342- 2delAG CFMDB_1678 commonName 1342- 1delG CFMDB_919 commonName 1342- 13G/T CFMDB_213 commonName 1342- 11TTT- >G CFMDB_957 commonName 1342- 265(GT)n CFMDB_918 commonName 1342- 12(GT)n CFMDB_994 protEffect p.Glu407Val CFMDB_994 commonName E407V CFMDB_1716 protEffect p.Glu407AlafsX4 CFMDB_1703 protEffect p.Phe409LeufsX33 CFMDB_752 protEffect p.Ala412GlnfsX30 CFMDB_752 commonName 1366delG CFMDB_1149 protEffect p.Ala412GlufsX30 CFMDB_1149 commonName 1367delC CFMDB_985 protEffect p.Asn415X CFMDB_985 commonName 1367del5 CFMDB_216 protEffect p.Gln414X CFMDB_216 commonName Q414X CFMDB_1538 protEffect p.Asn416Ser CFMDB_1538 commonName N416S CFMDB_217 protEffect p.Asn418Ser CFMDB_217 commonName N418S CFMDB_1795 protEffect p.Thr421Ala CFMDB_1087 protEffect p.Gly424Ser CFMDB_1087 commonName G424S CFMDB_1546 protEffect p.Ser431Gly CFMDB_1546 commonName S431G CFMDB_813 protEffect p.Ser434X CFMDB_813 commonName S434X CFMDB_1766 protEffect p.Gly437Val CFMDB_1924 protEffect p.Thr438Ala CFMDB_1501 protEffect p.Pro439Ser CFMDB_1501 commonName P439S CFMDB_1760 protEffect p.Leu441Pro CFMDB_1750 protEffect p.Lys442X CFMDB_218 protEffect p.Asp443Tyr CFMDB_218 commonName D443Y CFMDB_219 protEffect p.Ile444X CFMDB_219 commonName 1460delAT CFMDB_1568 commonName 1461 T/C CFMDB_220 protEffect p.Ile444ArgfsX3 CFMDB_220 commonName 1461ins4 CFMDB_1638 protEffect p.Ile444Thr CFMDB_1638 commonName I444T CFMDB_995 protEffect p.Ile444Ser CFMDB_995 commonName I444S CFMDB_1031 protEffect p.Lys447ArgfsX2 CFMDB_1031 commonName 1471delA CFMDB_1896 protEffect p.Ile448Arg CFMDB_1797 protEffect p.Gln452SerfsX30 CFMDB_841 protEffect p.Gln452Pro CFMDB_841 commonName Q452P CFMDB_221 protEffect p.Leu454del CFMDB_221 commonName [delta]L453 CFMDB_222 protEffect p.Ala455Glu CFMDB_222 commonName A455E CFMDB_1266 protEffect p.Val456CysfsX25 CFMDB_1266 commonName 1497delGG CFMDB_223 protEffect p.Val456Phe CFMDB_223 commonName V456F CFMDB_1184 protEffect p.Val456Ala CFMDB_1184 commonName V456A CFMDB_224 protEffect p.Gly458AspfsX11 CFMDB_224 commonName 1504delG CFMDB_225 protEffect p.Gly458Val CFMDB_225 commonName G458V CFMDB_1739 protEffect p.Gly463Val CFMDB_1851 protEffect p.Gly463Val CFMDB_1851 commonName G463V CFMDB_226 commonName 1524+ 6insC CFMDB_1373 protEffect p.Lys464Asn CFMDB_1373 commonName K464N CFMDB_1565 commonName 1524+ 68 G/A CFMDB_1211 commonName 1524+ 1G- >A CFMDB_1566 commonName 1524+ 60 insA CFMDB_227 commonName 1525- 1G- >A CFMDB_830 commonName 1525- 18G/A CFMDB_920 commonName 1525- 61A/G CFMDB_1656 commonName 1525- 47T- >G CFMDB_1510 commonName 1525- 42G>A CFMDB_921 commonName 1525- 60G/A CFMDB_1304 commonName 1525- 2A- >G CFMDB_229 protEffect p.Ser466X CFMDB_229 commonName S466X(TAG) CFMDB_228 protEffect p.Ser466Leu CFMDB_228 commonName S466L CFMDB_230 protEffect p.Ser466X CFMDB_230 commonName S466X(TAA) CFMDB_751 protEffect p.Leu467Phe CFMDB_751 commonName 1531C/T (L467F) CFMDB_1682 protEffect p.Leu468Pro CFMDB_1682 commonName L468P CFMDB_1349 protEffect p.Met469Val CFMDB_1349 commonName M469V CFMDB_1019 protEffect p.Met470Val CFMDB_1019 commonName M470V CFMDB_978 protEffect p.Met470GlufsX54 CFMDB_978 commonName 1540del10 CFMDB_1968 protEffect p.Ile471Val CFMDB_692 protEffect p.Gly473GlufsX54 CFMDB_692 commonName 1548delG CFMDB_1189 protEffect p.Glu474Lys CFMDB_1189 commonName E474K CFMDB_1785 protEffect p.Pro477Ser CFMDB_1574 protEffect p.Ser478X CFMDB_1574 commonName 1565 del CA CFMDB_1633 protEffect p.Glu479X CFMDB_1633 commonName E479X CFMDB_1983 protEffect p.Glu479Asp CFMDB_231 protEffect p.Gly480Cys CFMDB_231 commonName G480C CFMDB_1210 protEffect p.Gly480Ser CFMDB_1210 commonName G480S CFMDB_232 protEffect p.Gly480Asp CFMDB_232 commonName G480D CFMDB_233 protEffect p.Gly480ValfsX47 CFMDB_233 commonName 1571delG CFMDB_1020 commonName 1572T/C CFMDB_1164 protEffect p.Lys483X CFMDB_1164 commonName 1576insT CFMDB_723 protEffect p.His484Tyr CFMDB_723 commonName H484Y CFMDB_966 protEffect p.His484Arg CFMDB_966 commonName H484R CFMDB_1047 protEffect p.Ser485Cys CFMDB_1047 commonName S485C CFMDB_1871 protEffect p.Ser485Thr CFMDB_1871 commonName S485T CFMDB_234 protEffect p.Gly486X CFMDB_234 commonName G486X CFMDB_235 protEffect p.Ser489X CFMDB_235 commonName S489X CFMDB_660 protEffect p.Phe490LeufsX13 CFMDB_660 commonName 1601delTC CFMDB_1926 protEffect p.Phe490Serfs*37 CFMDB_722 protEffect p.Cys491Arg CFMDB_722 commonName C491R CFMDB_1909 protEffect p.Cys491Ser CFMDB_2006 protEffect p.Cys491Phe CFMDB_236 protEffect p.Ser492Phe CFMDB_236 commonName S492F CFMDB_238 protEffect p.Gln493ValfsX10 CFMDB_238 commonName 1609delCA CFMDB_237 protEffect p.Gln493X CFMDB_237 commonName Q493X CFMDB_1256 protEffect p.Gln493Pro CFMDB_1256 commonName Q493P CFMDB_239 protEffect p.Gln493Arg CFMDB_239 commonName Q493R CFMDB_240 protEffect p.Ser495LeufsX8 CFMDB_240 commonName 1612delTT CFMDB_1912 protEffect p.Ser495Tyr CFMDB_241 protEffect p.Trp496X CFMDB_241 commonName W496X CFMDB_1326 protEffect p.Ile497Val CFMDB_1326 commonName I497V CFMDB_1486 protEffect p.Met498Ile CFMDB_1486 commonName M498I CFMDB_661 protEffect p.Pro499Ala CFMDB_661 commonName P499A CFMDB_982 protEffect p.Thr501Ala CFMDB_982 commonName T501A CFMDB_726 protEffect p.Ile502Thr CFMDB_726 commonName I502T CFMDB_1223 protEffect p.Ile502Asn CFMDB_1223 commonName I502N CFMDB_724 protEffect p.Glu504X CFMDB_724 commonName E504X CFMDB_242 protEffect p.Glu504Gln CFMDB_242 commonName E504Q CFMDB_245 protEffect p.Ile507del CFMDB_245 commonName [delta]I507 CFMDB_1021 protEffect p.Ile506Val CFMDB_1021 commonName I506V (1648A/G) CFMDB_851 protEffect p.Ile506Leu CFMDB_851 commonName I506L CFMDB_243 protEffect p.Ile506Ser CFMDB_243 commonName I506S CFMDB_244 protEffect p.Ile506Thr CFMDB_244 commonName I506T CFMDB_869 protEffect p.Ile506Met CFMDB_869 commonName 1650C/G CFMDB_1023 protEffect p.Ile507Val CFMDB_1023 commonName 1651A/G CFMDB_1919 protEffect p.Ile507Met CFMDB_246 protEffect p.Phe508del CFMDB_246 commonName [delta]F508 CFMDB_1024 protEffect p.Phe508Cys CFMDB_1024 commonName F508C CFMDB_1138 protEffect p.Phe508Ser CFMDB_1138 commonName F508S CFMDB_1610 protEffect p.Val510PhefsX17 CFMDB_1610 commonName 1660delG CFMDB_1888 protEffect p.Ser511Cys CFMDB_818 protEffect p.Asp513Gly CFMDB_818 commonName D513G CFMDB_1258 protEffect p.Tyr515His CFMDB_1258 commonName Y515H CFMDB_247 protEffect p.Tyr515X CFMDB_247 commonName 1677delTA CFMDB_1268 protEffect p.Arg516Gly CFMDB_1268 commonName R516G CFMDB_760 protEffect p.Tyr517Cys CFMDB_760 commonName Y517C CFMDB_1226 protEffect p.Ser519Gly CFMDB_1226 commonName S519G CFMDB_249 protEffect p.Val520Ile CFMDB_249 commonName V520I CFMDB_248 protEffect p.Val520Phe CFMDB_248 commonName V520F CFMDB_1206 protEffect p.Ile521Leu CFMDB_1206 commonName 1693A- >C CFMDB_1907 protEffect p.Ile521Phe CFMDB_1810 protEffect p.Ala523Ser CFMDB_250 protEffect p.Cys524X CFMDB_250 commonName C524X CFMDB_251 protEffect p.Gln525X CFMDB_251 commonName Q525X CFMDB_252 protEffect p.Gln525LeufsX37 CFMDB_252 commonName 1706del17 CFMDB_817 protEffect p.Glu527Gln CFMDB_817 commonName E527Q CFMDB_964 protEffect p.Glu527Gly CFMDB_964 commonName E527G CFMDB_1025 commonName 1713A/G CFMDB_1653 protEffect p.Glu528Lys CFMDB_1653 commonName E528K CFMDB_662 commonName 1716+ 2T- >C CFMDB_922 commonName 1716+ 12T/C CFMDB_748 commonName 1716+ 64A/C CFMDB_598 commonName 1716+ 85C/T CFMDB_1026 commonName 1716G/A CFMDB_1190 protEffect p.Glu528Asp CFMDB_1190 commonName E528D CFMDB_923 commonName 1716+ 13G/T CFMDB_613 commonName 1716+ 77A/G CFMDB_1590 commonName 1716+ 1G- >T CFMDB_1591 commonName 1716+ 4 A- >T CFMDB_641 commonName 1716+ 1G- >A CFMDB_924 commonName dup1716+ 51- >61 CFMDB_896 commonName 1716+ 63ins11nt CFMDB_925 commonName 1717- 19T/C CFMDB_1139 protEffect p.Asp529His CFMDB_1139 commonName D529H CFMDB_255 commonName 1717- 1G- >A CFMDB_253 commonName 1717- 8G- >A CFMDB_254 commonName 1717- 2A- >G CFMDB_663 commonName 1717- 3T- >G CFMDB_1022 commonName 1717- 9T- >A CFMDB_1642 protEffect p.Asp529Gly CFMDB_1642 commonName D529G CFMDB_1724 protEffect p.Ile530Leu CFMDB_1993 protEffect p.Phe533Leu CFMDB_2007 protEffect p.Phe533Val CFMDB_256 protEffect p.Ala534Glu CFMDB_256 commonName A534E CFMDB_1497 protEffect p.Lys536X CFMDB_1497 commonName K536X CFMDB_1861 protEffect p.Lys536Glu CFMDB_1861 commonName K536E CFMDB_831 protEffect p.Asp537GlufsX30 CFMDB_831 commonName 1742delAC CFMDB_1291 protEffect p.Asp537Glu CFMDB_1291 commonName D537E CFMDB_257 protEffect p.Ile539Thr CFMDB_257 commonName I539T CFMDB_1128 protEffect p.Val540X CFMDB_1128 commonName 1749insTA CFMDB_1880 protEffect p.Leu541Pro CFMDB_258 protEffect p.Gly542X CFMDB_258 commonName G542X CFMDB_1852 protEffect p.Gly542Glu CFMDB_1852 commonName G542E CFMDB_259 protEffect p.Gly544Ser CFMDB_259 commonName G544S CFMDB_603 protEffect p.Gly544Val CFMDB_603 commonName G544V CFMDB_1150 commonName 1764T/G CFMDB_1284 protEffect p.Ile546_Thr547del CFMDB_1284 commonName 1767del6 CFMDB_1027 commonName 1773A/T CFMDB_260 protEffect p.Leu548GlufsX19 CFMDB_260 commonName 1774delCT CFMDB_1375 protEffect p.Leu548Gln CFMDB_1375 commonName L548Q CFMDB_261 protEffect p.Ser549Arg CFMDB_261 commonName S549R(A- >C) CFMDB_1780 protEffect p.Ser549GlufsX9 CFMDB_262 protEffect p.Ser549Asn CFMDB_262 commonName S549N CFMDB_263 protEffect p.Ser549Ile CFMDB_263 commonName S549I CFMDB_264 protEffect p.Ser549Arg CFMDB_264 commonName S549R(T- >G) CFMDB_265 protEffect p.Gly550Arg CFMDB_265 commonName G550R CFMDB_266 protEffect p.Gly550X CFMDB_266 commonName G550X CFMDB_267 protEffect p.Gly551ValfsX8 CFMDB_267 commonName 1782delA CFMDB_268 protEffect p.Gly551Ser CFMDB_268 commonName G551S CFMDB_269 protEffect p.Gly551Asp CFMDB_269 commonName G551D CFMDB_270 protEffect p.Gly551ValfsX8 CFMDB_270 commonName 1784delG CFMDB_596 protEffect p.Gln552Lys CFMDB_596 commonName Q552K CFMDB_271 protEffect p.Gln552X CFMDB_271 commonName Q552X CFMDB_1043 protEffect p.Gln552HisfsX7 CFMDB_1043 commonName 1787delA CFMDB_272 protEffect p.Arg553Gly CFMDB_272 commonName R553G CFMDB_273 protEffect p.Arg553X CFMDB_273 commonName R553X CFMDB_274 protEffect p.Arg553Gln CFMDB_274 commonName R553Q CFMDB_1726 protEffect p.Ala554AspfsX14 CFMDB_991 protEffect p.Arg555Gly CFMDB_991 commonName R555G CFMDB_275 protEffect p.Ile556Val CFMDB_275 commonName I556V CFMDB_664 protEffect p.Ser557PhefsX2 CFMDB_664 commonName 1802delC CFMDB_1829 commonName 1811+ 1643G>T CFMDB_276 protEffect p.Leu558Ser CFMDB_276 commonName L558S CFMDB_277 protEffect p.Ala559GlnfsX13 CFMDB_277 commonName 1806delA CFMDB_278 protEffect p.Ala559Thr CFMDB_278 commonName A559T CFMDB_1191 protEffect p.Ala559Glu CFMDB_1191 commonName A559E CFMDB_1592 protEffect p.Ala559Val CFMDB_1592 commonName A559V CFMDB_1274 protEffect p.Arg560Gly CFMDB_1274 commonName R560G CFMDB_281 commonName 1811+ 1G- >C CFMDB_1519 commonName 1811+ 16T- >C CFMDB_280 protEffect p.Arg560Thr CFMDB_280 commonName R560T CFMDB_279 protEffect p.Arg560Lys CFMDB_279 commonName R560K CFMDB_282 commonName 1811+ 18G- >A CFMDB_1505 commonName 1811 + 1 G>A CFMDB_1660 commonName 1811+ 24G- >A CFMDB_1388 commonName 1811+ 34 G>A CFMDB_1532 commonName 1811 + 1650 T>A CFMDB_1608 commonName 1811+ 5A- >G CFMDB_1287 commonName 1811+ 11A- >G CFMDB_639 commonName 1812- 136T/C CFMDB_926 commonName 1812- 108T/C CFMDB_1646 commonName 1812- 99 T- >C CFMDB_1363 commonName 1812- 26T- >C CFMDB_284 commonName 1812- 1G- >A CFMDB_1575 commonName 1812- 5 T- >A CFMDB_1088 commonName 1812- 59T/G CFMDB_285 protEffect p.Arg560Ser CFMDB_285 commonName R560S CFMDB_730 protEffect p.Val562SerfsX6 CFMDB_730 commonName 1813insC CFMDB_286 protEffect p.Ala561Glu CFMDB_286 commonName A561E CFMDB_288 protEffect p.Val562Leu CFMDB_288 commonName V562L CFMDB_287 protEffect p.Val562Ile CFMDB_287 commonName V562I CFMDB_289 protEffect p.Tyr563Asp CFMDB_289 commonName Y563D CFMDB_290 protEffect p.Tyr563Asn CFMDB_290 commonName Y563N CFMDB_1933 protEffect p.Tyr563His CFMDB_291 protEffect p.Tyr563Cys CFMDB_291 commonName Y563C CFMDB_1813 protEffect p.Lys564Glu CFMDB_1831 protEffect p.Asp565MetfsX7 CFMDB_1831 commonName 1824delA CFMDB_1267 protEffect p.Asp565Gly CFMDB_1267 commonName D565G CFMDB_1338 protEffect p.Ala566Thr CFMDB_1338 commonName A566T CFMDB_1899 protEffect p.Asp567Gly CFMDB_292 protEffect p.Leu568CysfsX4 CFMDB_292 commonName 1833delT CFMDB_293 protEffect p.Leu568X CFMDB_293 commonName L568X CFMDB_627 protEffect p.Leu568Phe CFMDB_627 commonName L568F CFMDB_295 protEffect p.Tyr569His CFMDB_295 commonName Y569H CFMDB_294 protEffect p.Tyr569Asp CFMDB_294 commonName Y569D CFMDB_296 protEffect p.Tyr569Cys CFMDB_296 commonName Y569C CFMDB_297 protEffect p.Tyr569X CFMDB_297 commonName Y569X CFMDB_298 protEffect p.Leu571Ser CFMDB_298 commonName L571S CFMDB_1096 protEffect p.Asp572LeufsX16 CFMDB_1096 commonName 1845delAG/1846delGA CFMDB_299 protEffect p.Asp572Asn CFMDB_299 commonName D572N CFMDB_1721 protEffect p.Asp572His CFMDB_1499 protEffect p.Ser573Cys CFMDB_1499 commonName S573C CFMDB_1492 protEffect p.Pro574Ser CFMDB_1492 commonName P574S CFMDB_300 protEffect p.Pro574His CFMDB_300 commonName P574H CFMDB_301 protEffect p.Gly576X CFMDB_301 commonName G576X CFMDB_590 protEffect p.Gly576Ala CFMDB_590 commonName G576A CFMDB_302 protEffect p.Tyr577Phe CFMDB_302 commonName Y577F CFMDB_755 commonName Y577Y (1863C/T) CFMDB_1804 protEffect p.Tyr577X CFMDB_303 protEffect p.Asp579Tyr CFMDB_303 commonName D579Y CFMDB_304 protEffect p.Asp579Gly CFMDB_304 commonName D579G CFMDB_210 protEffect p.Asp579Ala CFMDB_210 commonName D579A CFMDB_1175 protEffect p.Val580PhefsX2 CFMDB_1175 commonName 1870delG CFMDB_305 protEffect p.Leu581PhefsX8 CFMDB_305 commonName 1874insT CFMDB_1292 protEffect p.Thr582Ser CFMDB_1292 commonName T582S CFMDB_306 protEffect p.Thr582Ile CFMDB_306 commonName T582I CFMDB_307 protEffect p.Thr582Arg CFMDB_307 commonName T582R CFMDB_308 protEffect p.Glu585X CFMDB_308 commonName E585X CFMDB_1578 protEffect p.Ile586Val CFMDB_1578 commonName I586V CFMDB_1394 protEffect p.Phe587Ile CFMDB_1394 commonName F587I CFMDB_1471 protEffect p.Glu588Val CFMDB_1471 commonName E588V CFMDB_311 commonName 1898+ 1G- >C CFMDB_312 commonName 1898+ 3A- >C CFMDB_740 commonName 1898+ 5G- >A CFMDB_665 protEffect p.Ser589Asn CFMDB_665 commonName S589N CFMDB_1059 protEffect p.Ser589Ile CFMDB_1059 commonName S589I CFMDB_927 commonName 1898+ 152T/A CFMDB_309 commonName 1898+ 1G- >A CFMDB_310 commonName 1898+ 1G- >T CFMDB_1046 commonName 1898+ 30G/A CFMDB_313 commonName 1898+ 3A- >G CFMDB_314 commonName 1898+ 5G- >T CFMDB_315 commonName 1898+ 73T- >G CFMDB_1643 protEffect p.Leu594Pro CFMDB_1643 commonName L594P CFMDB_1905 protEffect p.Met595Val CFMDB_1493 protEffect p.Met595Thr CFMDB_1493 commonName M595T CFMDB_1632 protEffect p.Met595Ile CFMDB_1632 commonName M595I CFMDB_316 protEffect p.Ala596X CFMDB_316 commonName 1918delGC CFMDB_1618 protEffect p.Lys598X CFMDB_1618 commonName K598X CFMDB_317 protEffect p.Lys598GlyfsX11 CFMDB_317 commonName 1924del7 CFMDB_1151 commonName T599T (1929T/A) CFMDB_753 protEffect p.Arg600Gly CFMDB_753 commonName R600G CFMDB_1593 protEffect p.Ile601PhefsX10 CFMDB_1593 commonName 1932delG CFMDB_666 protEffect p.Ile601Phe CFMDB_666 commonName I601F CFMDB_1949 protEffect p.Ile601Val CFMDB_852 protEffect p.Val603Phe CFMDB_852 commonName V603F CFMDB_1192 protEffect p.Thr604Ile CFMDB_1192 commonName T604I CFMDB_1502 protEffect p.Thr604Ser CFMDB_1502 commonName T604S CFMDB_1830 commonName 1812- 13A>G CFMDB_1257 protEffect p.Glu608Gly CFMDB_1257 commonName E608G CFMDB_1536 protEffect p.His609Leu CFMDB_1536 commonName H609L CFMDB_754 protEffect p.His609Arg CFMDB_754 commonName H609R CFMDB_319 protEffect p.Leu610Ser CFMDB_319 commonName L610S CFMDB_667 protEffect p.Ala613Thr CFMDB_667 commonName A613T CFMDB_1193 protEffect p.Asp614Tyr CFMDB_1193 commonName D614Y CFMDB_320 protEffect p.Asp614Gly CFMDB_320 commonName D614G CFMDB_321 protEffect p.Ile618Thr CFMDB_321 commonName I618T CFMDB_322 protEffect p.Leu619Ser CFMDB_322 commonName L619S CFMDB_323 protEffect p.His620Pro CFMDB_323 commonName H620P CFMDB_668 protEffect p.His620Gln CFMDB_668 commonName H620Q CFMDB_669 protEffect p.Gly622Asp CFMDB_669 commonName G622D CFMDB_1689 protEffect p.Ser624IlefsX15 CFMDB_1689 commonName 2003del8 CFMDB_325 protEffect p.Gly628Arg CFMDB_325 commonName G628R(G- >C) CFMDB_324 protEffect p.Gly628Arg CFMDB_324 commonName G628R(G- >A) CFMDB_1520 protEffect p.Leu633Ile CFMDB_1520 commonName L633I CFMDB_326 protEffect p.Leu633Pro CFMDB_326 commonName L633P CFMDB_637 protEffect p.Gln634X CFMDB_637 commonName Q634X CFMDB_962 protEffect p.Leu636Pro CFMDB_962 commonName L636P CFMDB_1044 protEffect p.Gln637X CFMDB_1044 commonName Q637X CFMDB_327 protEffect p.Gln637HisfsX26 CFMDB_327 commonName 2043delG CFMDB_1270 protEffect p.Asp639Tyr CFMDB_1270 commonName D639Y CFMDB_969 protEffect p.Phe640X CFMDB_969 commonName 2051delTT CFMDB_1737 protEffect p.Phe640Phe CFMDB_1889 protEffect p.Ser641IlefsX23 CFMDB_328 protEffect p.Ser641ArgfsX5 CFMDB_328 commonName 2055del9- >A CFMDB_824 commonName 2064C/G CFMDB_981 commonName 2082C/T CFMDB_1259 protEffect p.Asp651His CFMDB_1259 commonName D651H CFMDB_961 protEffect p.Asp651Asn CFMDB_961 commonName D651N CFMDB_1030 protEffect p.Ser654Gly CFMDB_1030 commonName 2092A/G CFMDB_761 protEffect p.Glu656X CFMDB_761 commonName E656X CFMDB_1194 protEffect p.Arg658LysfsX7 CFMDB_1194 commonName 2104insA+ 2109- 2118del10 CFMDB_1283 protEffect p.Arg658LysfsX4 CFMDB_1283 commonName 2105- 2117del13insAGAAA CFMDB_1056 protEffect p.Asn659IlefsX4 CFMDB_1056 commonName 2108delA CFMDB_1544 protEffect p.Ser660Thr CFMDB_1544 commonName S660T CFMDB_330 protEffect p.Ile661SerfsX2 CFMDB_330 commonName 2113delA CFMDB_1093 protEffect p.Thr663ArgfsX8 CFMDB_1093 commonName 2116delCTAA CFMDB_331 protEffect p.Thr663ArgfsX8 CFMDB_331 commonName 2118del4 CFMDB_332 protEffect p.Glu664X CFMDB_332 commonName E664X CFMDB_333 protEffect p.Thr665Ser CFMDB_333 commonName T665S CFMDB_764 protEffect p.Arg668Cys CFMDB_764 commonName R668C CFMDB_334 protEffect p.Leu671IlefsX18 CFMDB_334 commonName 2141insA CFMDB_335 protEffect p.Leu671X CFMDB_335 commonName 2143delT CFMDB_714 protEffect p.Glu672del CFMDB_714 commonName E672del CFMDB_336 protEffect p.Gly673X CFMDB_336 commonName G673X CFMDB_1534 protEffect p.Asp674Val CFMDB_1534 commonName D674V CFMDB_1066 protEffect p.Trp679X CFMDB_1066 commonName W679X CFMDB_337 protEffect p.Gln685ThrfsX4 CFMDB_337 commonName 2176insC CFMDB_1718 protEffect p.Thr682GlnfsX40 CFMDB_1102 protEffect p.Lys683Arg CFMDB_1102 commonName K683R CFMDB_758 protEffect p.Lys684ThrfsX4 CFMDB_758 commonName 2183delAA CFMDB_338 protEffect p.Lys684SerfsX38 CFMDB_338 commonName 2183AA- >G CFMDB_1437 commonName 2184A/G CFMDB_340 protEffect p.Gln685ThrfsX4 CFMDB_340 commonName 2184insA CFMDB_339 protEffect p.Lys684AsnfsX38 CFMDB_339 commonName 2184delA CFMDB_1060 protEffect p.Gln685ProfsX4 CFMDB_1060 commonName 2185insC CFMDB_341 protEffect p.Gln685X CFMDB_341 commonName Q685X CFMDB_1526 protEffect p.Ser686Tyr CFMDB_1526 commonName S686Y CFMDB_1396 protEffect p.Lys688PhefsX? CFMDB_1396 commonName 2193ins4 CFMDB_1609 protEffect p.Lys688X CFMDB_1609 commonName K688X CFMDB_1339 protEffect p.Gln689X CFMDB_1339 commonName Q689X CFMDB_342 protEffect p.Glu692X CFMDB_342 commonName E692X CFMDB_343 protEffect p.Phe693Leu CFMDB_343 commonName F693L(CTT) CFMDB_1209 protEffect p.Phe693Leu CFMDB_1209 commonName F693L(TTG) CFMDB_1180 protEffect p.Glu695GlyfsX35 CFMDB_1180 commonName 2215insG CFMDB_1733 protEffect p.Lys696Arg CFMDB_1594 protEffect p.Arg697LysfsX33 CFMDB_1594 commonName 2221insA CFMDB_766 commonName 2238C/G CFMDB_344 protEffect p.Arg709X CFMDB_344 commonName R709X CFMDB_1285 protEffect p.Arg709Gln CFMDB_1285 commonName R709Q CFMDB_345 protEffect p.Lys710X CFMDB_345 commonName K710X CFMDB_1305 protEffect p.Ser712Cys CFMDB_1305 commonName S712C CFMDB_1661 protEffect p.Gln715X CFMDB_1661 commonName Q715X CFMDB_346 protEffect p.Lys716X CFMDB_346 commonName K716X CFMDB_347 protEffect p.Leu719X CFMDB_347 commonName L719X CFMDB_1333 protEffect p.Gln720MetfsX11 CFMDB_1333 commonName 2289- 2295del7bpinsGT CFMDB_1048 protEffect p.Gln720X CFMDB_1048 commonName Q720X CFMDB_1306 protEffect p.Gly723Val CFMDB_1306 commonName G723V CFMDB_799 protEffect p.Glu725Lys CFMDB_799 commonName E725K CFMDB_348 protEffect p.Glu726ArgfsX4 CFMDB_348 commonName 2307insA CFMDB_349 protEffect p.Glu730X CFMDB_349 commonName E730X CFMDB_350 protEffect p.Leu732X CFMDB_350 commonName L732X CFMDB_1153 protEffect p.Arg735GlyfsX4 CFMDB_1153 commonName 2335delA CFMDB_1222 protEffect p.Arg735Lys CFMDB_1222 commonName R735K CFMDB_1391 protEffect p.Ser737Phe CFMDB_1391 commonName S737F CFMDB_1393 protEffect p.Ser737Phe CFMDB_1393 commonName S737F CFMDB_351 protEffect p.Val739TyrfsX16 CFMDB_351 commonName 2347delG CFMDB_1461 protEffect p.Gly745X CFMDB_1461 commonName G745X(Gly745X) CFMDB_352 protEffect p.Ile748SerfsX28 CFMDB_352 commonName 2372del8 CFMDB_715 commonName 2377C/T CFMDB_1648 protEffect p.Pro750GlnfsX26 CFMDB_1648 commonName 2380_2387del CFMDB_1103 protEffect p.Pro750Leu CFMDB_1103 commonName P750L CFMDB_1870 protEffect p.Arg751Cys CFMDB_1870 commonName R751C CFMDB_1307 protEffect p.Arg751Pro CFMDB_1307 commonName R751P CFMDB_1987 protEffect p.Arg751Leu CFMDB_1425 protEffect p.Ile752Ser CFMDB_1425 commonName I752S CFMDB_1649 protEffect No Changes CFMDB_1649 commonName 2391 C/T CFMDB_1657 protEffect p.Ser753Arg CFMDB_1657 commonName S753R CFMDB_1755 protEffect p.Ser753Arg CFMDB_610 protEffect p.Val754Met CFMDB_610 commonName V754M CFMDB_1621 protEffect p.Pro759HisfsX19 CFMDB_1621 commonName 2406delCC CFMDB_1691 protEffect p.Thr760ArgfsX11 CFMDB_1691 commonName 2409delC CFMDB_1049 protEffect p.Thr760Met CFMDB_1049 commonName T760M CFMDB_1617 commonName 2412G/A CFMDB_1390 protEffect p.Gln762His CFMDB_1390 commonName 2418GG>T CFMDB_353 protEffect p.Arg764X CFMDB_353 commonName R764X CFMDB_354 protEffect p.Arg764GlnfsX7 CFMDB_354 commonName 2423delG CFMDB_1736 protEffect p.Arg765Ser CFMDB_355 protEffect p.Arg766Met CFMDB_355 commonName R766M CFMDB_1207 protEffect p.His775LeufsX3 CFMDB_1207 commonName 2456delAC CFMDB_757 protEffect p.Ser776X CFMDB_757 commonName S776X CFMDB_745 protEffect p.Gln781X CFMDB_745 commonName Q781X CFMDB_1195 protEffect p.Asn782Lys CFMDB_1195 commonName N782K CFMDB_356 protEffect p.Arg785X CFMDB_356 commonName R785X CFMDB_1208 protEffect p.Thr788fsX? CFMDB_1208 commonName 2493ins8 CFMDB_1581 protEffect p.Thr788Ile CFMDB_1581 commonName T788I CFMDB_358 protEffect p.Arg792Gly CFMDB_358 commonName R792G CFMDB_357 protEffect p.Arg792X CFMDB_357 commonName R792X CFMDB_1697 protEffect p.Val794CysfsX9 CFMDB_1697 commonName 2512delG CFMDB_359 protEffect p.Gln799SerfsX6 CFMDB_359 commonName 2522insC CFMDB_1868 protEffect p.Pro798Ser CFMDB_1868 commonName P798S CFMDB_360 protEffect p.Ala800Gly CFMDB_360 commonName A800G CFMDB_1585 protEffect p.Asp806Gly CFMDB_1585 commonName D806G CFMDB_1579 protEffect p.Ile807Val CFMDB_1579 commonName I807V CFMDB_866 protEffect p.Ile807Met CFMDB_866 commonName I807M CFMDB_767 protEffect p.Ile807Met CFMDB_767 commonName 2553A/G CFMDB_361 protEffect p.Ser809IlefsX13 CFMDB_361 commonName 2556insAT CFMDB_1221 protEffect p.Arg810Gly CFMDB_1221 commonName R810G CFMDB_1742 protEffect p.Leu812TyrfsX10 CFMDB_362 protEffect p.Leu812PhefsX11 CFMDB_362 commonName 2566insT CFMDB_1265 protEffect p.Ser813Pro CFMDB_1265 commonName S813P CFMDB_1670 protEffect p.Gln814X CFMDB_1670 commonName Q814X CFMDB_1908 protEffect p.Gly817Val CFMDB_1504 protEffect p.Leu818TrpfsX3 CFMDB_1504 commonName 2585delT CFMDB_1791 protEffect p.Ser821ArgfsX4 CFMDB_363 protEffect p.Glu822Lys CFMDB_363 commonName E822K CFMDB_364 protEffect p.Glu822X CFMDB_364 commonName E822X CFMDB_800 protEffect p.Glu823X CFMDB_800 commonName E823X CFMDB_365 protEffect p.Asn825ThrfsX5 CFMDB_365 commonName 2603delT CFMDB_366 protEffect p.Glu826Lys CFMDB_366 commonName E826K CFMDB_367 protEffect p.Glu827X CFMDB_367 commonName E827X CFMDB_1308 protEffect p.Asp828Gly CFMDB_1308 commonName D828G CFMDB_1152 commonName L829L (2619A/G) CFMDB_368 protEffect p.Lys830X CFMDB_368 commonName K830X CFMDB_1426 commonName 2622+ 2T>C CFMDB_849 commonName 2622+ 2del6 CFMDB_369 commonName 2622+ 1G- >A CFMDB_1196 commonName 2622+ 1G- >T CFMDB_811 commonName 2622+ 14G/A CFMDB_1595 commonName 2623- 11 C- >T CFMDB_1309 commonName 2623- 2A- >G CFMDB_370 protEffect p.Glu831X CFMDB_370 commonName E831X CFMDB_1612 commonName 2623- 23A- >G CFMDB_837 protEffect p.Asp835X CFMDB_837 commonName 2634insT CFMDB_1775 protEffect p.Phe834Leu CFMDB_1637 protEffect p.Phe834LeufsX10 CFMDB_1637 commonName 2634delT CFMDB_371 protEffect p.Asp836Tyr CFMDB_371 commonName D836Y CFMDB_879 protEffect p.Asp836GlufsX8 CFMDB_879 commonName 2640delT CFMDB_1541 protEffect p.Ile840Thr CFMDB_1541 commonName I840T CFMDB_1253 protEffect p.Pro841Arg CFMDB_1253 commonName P841R CFMDB_372 protEffect p.Trp846X CFMDB_372 commonName W846X CFMDB_373 protEffect p.Trp846X CFMDB_373 commonName W846X (2670TGG>TGA) CFMDB_1057 protEffect p.Tyr849X CFMDB_1057 commonName Y849X CFMDB_374 protEffect p.Arg851X CFMDB_374 commonName R851X CFMDB_670 protEffect p.Arg851Leu CFMDB_670 commonName R851L CFMDB_1696 protEffect p.Tyr852X CFMDB_1696 commonName Y852X CFMDB_768 commonName 2691T/C CFMDB_1114 commonName 2694T/C CFMDB_769 commonName 2694T/G CFMDB_1181 protEffect p.Val855SerfsX5 CFMDB_1181 commonName 2694delT CFMDB_954 protEffect p.Val855Ile CFMDB_954 commonName V855I CFMDB_1798 protEffect p.His856LeufsX40 CFMDB_759 commonName 2703G/A CFMDB_375 protEffect p.Phe861LeufsX3 CFMDB_375 commonName 2711delT CFMDB_1857 protEffect p.Ile860Thr CFMDB_1857 commonName I860T CFMDB_376 protEffect p.Ile864SerfsX28 CFMDB_376 commonName 2721del11 CFMDB_701 protEffect p.Ile864MetfsX31 CFMDB_701 commonName 2723delTT CFMDB_1436 protEffect p.Cys866Gly CFMDB_1436 commonName C866R CFMDB_1444 protEffect p.Cys866Ser CFMDB_1444 commonName C866S CFMDB_377 protEffect p.Cys866Tyr CFMDB_377 commonName C866Y CFMDB_705 protEffect p.Leu867X CFMDB_705 commonName L867X CFMDB_1081 protEffect p.Val868SerfsX28 CFMDB_1081 commonName 2732insA CFMDB_378 protEffect p.Val868X CFMDB_378 commonName 2734G- >AT CFMDB_770 protEffect No Changes CFMDB_770 commonName 2736G/A CFMDB_1596 protEffect p.Ala872GlufsX34 CFMDB_1596 commonName 2747delC CFMDB_379 commonName 2751G- >A CFMDB_380 commonName 2751+ 3A- >G CFMDB_990 commonName IVS14a+ 17del5 CFMDB_671 commonName 2751+ 2T- >A CFMDB_1310 commonName 2752- 97C- >T CFMDB_929 commonName 2752- 15C/G CFMDB_1311 commonName 2752- 6T- >C CFMDB_1017 commonName 2752- 1G- >C CFMDB_1358 commonName 2752- 17G/A CFMDB_381 commonName 2752- 26A- >G CFMDB_382 commonName 2752- 1G- >T CFMDB_1677 commonName 2752- 2A>G CFMDB_928 commonName 2752- 22A/G CFMDB_1832 commonName 2752- 33insA CFMDB_1872 protEffect p.Ser877del CFMDB_1872 commonName S877del CFMDB_383 protEffect p.Leu878PhefsX15 CFMDB_383 commonName 2766del8 CFMDB_385 protEffect p.Trp882X CFMDB_385 commonName W882X CFMDB_1478 protEffect p.Asn886ThrfsX15 CFMDB_1478 commonName 2787del16 CFMDB_930 commonName 2789+ 32T/C CFMDB_835 commonName 2789+ 2insA CFMDB_386 commonName 2789+ 3delG CFMDB_387 commonName 2789+ 5G>A CFMDB_931 commonName 2790- 108G/C CFMDB_389 commonName 2790- 1G- >C CFMDB_390 commonName 2790- 1G- >T CFMDB_932 commonName 2790- 21G/A CFMDB_388 commonName 2790- 2A- >G CFMDB_391 protEffect p.Gln890X CFMDB_391 commonName Q890X CFMDB_973 protEffect p.Gln890Arg CFMDB_973 commonName Q890R CFMDB_886 protEffect p.Asp891Gly CFMDB_886 commonName D891G CFMDB_1620 commonName 2811G/T CFMDB_1154 protEffect p.Ser895Thr CFMDB_1154 commonName S895T CFMDB_1799 protEffect p.Thr896IlefsX3 CFMDB_1168 protEffect p.Thr896Ile CFMDB_1168 commonName T896I CFMDB_1392 protEffect p.Thr896IlefsX9 CFMDB_1392 commonName 2819del4bpins13bp CFMDB_1155 protEffect p.Asn900Thr CFMDB_1155 commonName N900T CFMDB_1970 protEffect p.Ser902ThrfsX4 CFMDB_1227 protEffect p.Ser902Arg CFMDB_1227 commonName S902R CFMDB_771 protEffect p.Tyr903His CFMDB_771 commonName 2839T/C CFMDB_976 commonName 2844A/T CFMDB_1095 protEffect p.Ile907Val CFMDB_1095 commonName 2851A/G CFMDB_706 protEffect p.Thr908Asn CFMDB_706 commonName T908N CFMDB_842 commonName 2856C/T CFMDB_772 protEffect p.Ser909Ile CFMDB_772 commonName 2858G/T CFMDB_1293 protEffect p.Ser911Arg CFMDB_1293 commonName S911R CFMDB_392 protEffect p.Ser912Leu CFMDB_392 commonName S912L CFMDB_393 protEffect p.Ser912X CFMDB_393 commonName S912X CFMDB_1564 commonName 2868 G/A CFMDB_394 protEffect p.Tyr913X CFMDB_394 commonName 2869insG CFMDB_395 protEffect p.Tyr913Cys CFMDB_395 commonName Y913C CFMDB_1500 protEffect p.Tyr913X CFMDB_1500 commonName Y913X CFMDB_1686 protEffect p.Tyr914Cys CFMDB_1686 commonName Y914C CFMDB_1772 protEffect p.Val915Leu CFMDB_615 protEffect p.Tyr917Asp CFMDB_615 commonName Y917D CFMDB_396 protEffect p.Tyr917Cys CFMDB_396 commonName Y917C CFMDB_1197 protEffect p.Ile918Met CFMDB_1197 commonName I918M CFMDB_397 protEffect p.Tyr919Cys CFMDB_397 commonName Y919C CFMDB_398 protEffect p.Val920Met CFMDB_398 commonName V920M CFMDB_1198 protEffect p.Val920Leu CFMDB_1198 commonName V920L CFMDB_1853 protEffect p.Gly921Glu CFMDB_1853 commonName G921E CFMDB_1360 protEffect p.Val922Leu CFMDB_1360 commonName V922L CFMDB_713 protEffect p.Val922GlufsX2 CFMDB_713 commonName 2896insAG CFMDB_773 commonName 2901C/T CFMDB_1199 protEffect p.Asp924Asn CFMDB_1199 commonName D924N CFMDB_1844 protEffect p.Asp924Tyr CFMDB_1844 commonName D924Y CFMDB_399 protEffect p.Leu926AlafsX48 CFMDB_399 commonName 2907delTT CFMDB_400 protEffect p.Leu926CysfsX16 CFMDB_400 commonName 2909delT CFMDB_1902 protEffect p.Leu926Phe CFMDB_401 protEffect p.Leu927Pro CFMDB_401 commonName L927P CFMDB_1971 protEffect p.Gly930AspfsX12 CFMDB_1156 protEffect p.Phe932Ser CFMDB_1156 commonName F932S CFMDB_1340 protEffect p.Arg933Gly CFMDB_1340 commonName R933G CFMDB_619 protEffect p.Arg933Ser CFMDB_619 commonName R933S CFMDB_1972 protEffect p.Leu935AlafsX36 CFMDB_1929 protEffect p.Leu941X CFMDB_1881 protEffect p.Pro936Thr CFMDB_1171 commonName 2940A/G CFMDB_1067 protEffect p.Val938GlyfsX37 CFMDB_1067 commonName 2942insT CFMDB_1443 protEffect p.Val938Leu CFMDB_1443 commonName V938L CFMDB_620 protEffect p.Val938Gly CFMDB_620 commonName V938G CFMDB_402 protEffect p.His939Asp CFMDB_402 commonName H939D CFMDB_1018 protEffect p.His439ProfsX CFMDB_1018 commonName 2948AT- >C CFMDB_707 protEffect p.His939Arg CFMDB_707 commonName H939R CFMDB_1913 protEffect p.Thr940Thr CFMDB_1833 protEffect p.Ile942ThrfsX26 CFMDB_1833 commonName 2957delT CFMDB_403 protEffect p.Ser945Leu CFMDB_403 commonName S945L CFMDB_622 commonName 2967G/A CFMDB_616 protEffect p.Lys946X CFMDB_616 commonName K946X CFMDB_404 protEffect p.His949Tyr CFMDB_404 commonName H949Y CFMDB_405 protEffect p.His949Arg CFMDB_405 commonName H949R CFMDB_1489 protEffect p.His949Leu CFMDB_1489 commonName H949L CFMDB_1058 protEffect p.Met952Thr CFMDB_1058 commonName M952T CFMDB_406 protEffect p.Met952Ile CFMDB_406 commonName M952I CFMDB_407 protEffect p.Leu953PhefsX11 CFMDB_407 commonName 2991del32 CFMDB_1767 protEffect p.His954Pro CFMDB_408 protEffect p.Ala959HisfsX9 CFMDB_408 commonName 3007delG CFMDB_1345 protEffect p.Ala959Val CFMDB_1345 commonName A959V CFMDB_1777 protEffect p.Ala959AspfsX9 CFMDB_1131 protEffect p.Met961Ile CFMDB_1131 commonName M961I CFMDB_617 protEffect p.Thr966ArgfsX2 CFMDB_617 commonName 3028delA CFMDB_774 commonName 3030G/A CFMDB_809 protEffect p.Leu967Ser CFMDB_809 commonName L967S CFMDB_643 commonName 3040+ 2T- >C CFMDB_1312 commonName 3040+ 23T- >C CFMDB_1635 commonName CFTR- dele 16- 17a- 17b CFMDB_409 protEffect p.Gly970Arg CFMDB_409 commonName G970R CFMDB_1619 protEffect p.Gly970Ser CFMDB_1619 commonName G970S CFMDB_1597 commonName 3040+ 11A/T CFMDB_934 commonName 3041- 71G/C CFMDB_935 commonName 3041- 52C/G CFMDB_1219 commonName 3041- 11del7 CFMDB_410 commonName 3041- 1G- >A CFMDB_1220 commonName 3041- 15T- >G CFMDB_1330 commonName 3041- 4A- >G CFMDB_1563 commonName 3041- 51 T/G CFMDB_933 commonName 3041- 92G/A CFMDB_734 protEffect p.Gly970Asp CFMDB_734 commonName G970D CFMDB_411 protEffect p.Gly970ValfsX11 CFMDB_411 commonName 3041delG CFMDB_672 protEffect p.Leu973Phe CFMDB_672 commonName L973F CFMDB_1141 protEffect p.Leu973Pro CFMDB_1141 commonName L973P CFMDB_1445 protEffect p.Leu973His CFMDB_1445 commonName L973H CFMDB_412 protEffect p.Arg975IlefsX10 CFMDB_412 commonName 3056delGA CFMDB_413 protEffect p.Ser977Pro CFMDB_413 commonName S977P CFMDB_743 protEffect p.Ser977Phe CFMDB_743 commonName S977F CFMDB_1906 protEffect p.Ser977Cys CFMDB_1749 protEffect p.Lys978X CFMDB_1862 protEffect p.Lys978X CFMDB_1862 commonName K978X CFMDB_674 protEffect p.Asp979Val CFMDB_674 commonName D979V CFMDB_673 protEffect p.Asp979Ala CFMDB_673 commonName D979A CFMDB_414 protEffect p.Ile980Lys CFMDB_414 commonName I980K CFMDB_1625 protEffect p.Ile980Met CFMDB_1625 commonName I980M CFMDB_717 protEffect p.Leu983GlyfsX2 CFMDB_717 commonName 3079delTT CFMDB_880 protEffect p.Asp985His CFMDB_880 commonName D985H CFMDB_415 protEffect p.Asp985Tyr CFMDB_415 commonName D985Y CFMDB_1782 protEffect p.Pro988Arg CFMDB_1756 protEffect p.Thr990Ser CFMDB_416 protEffect p.Thr990AsnfsX4 CFMDB_416 commonName 3100insA CFMDB_1100 protEffect p.Ile991Val CFMDB_1100 commonName I991V CFMDB_417 protEffect p.Asp993Tyr CFMDB_417 commonName D993Y CFMDB_1634 protEffect p.Asp993Gly CFMDB_1634 commonName D993G CFMDB_797 protEffect p.Phe994Cys CFMDB_797 commonName F994C CFMDB_418 commonName 3120G- >A CFMDB_1313 commonName 3120+ 198G- >A CFMDB_419 commonName 3120+ 1G- >A CFMDB_1172 commonName 3120+ 45A/G CFMDB_1645 commonName 3120+ 35 A- >T CFMDB_1765 commonName 3120+ 33G>T CFMDB_1344 commonName 3120+ 41delA CFMDB_1668 commonName 3121- 14C/A CFMDB_1337 commonName 3121- 3C- >G CFMDB_422 commonName 3121- 1G- >A CFMDB_421 commonName 3121- 2A- >G CFMDB_420 commonName 3121- 2A- >T CFMDB_936 commonName 3121- 92A12/13 CFMDB_776 protEffect p.Leu997Phe CFMDB_776 commonName L997F CFMDB_853 protEffect p.Ile1000X CFMDB_853 commonName 3126del4 CFMDB_423 protEffect p.Ile1000X CFMDB_423 commonName 3129del4 CFMDB_424 protEffect p.Val1001_Ile1005del CFMDB_424 commonName 3131del15 CFMDB_1289 protEffect p.Ile1000_Ile1005del CFMDB_1289 commonName 3130del15 CFMDB_1376 protEffect p.Ile1000LeufsX2 CFMDB_1376 commonName 3130delA CFMDB_425 protEffect p.Val1001AspfsX45 CFMDB_425 commonName 3132delTG CFMDB_1964 protEffect p.Val1001Met CFMDB_1166 protEffect p.Gly1003X CFMDB_1166 commonName G1003X CFMDB_1676 protEffect p.Gly1003Glu CFMDB_1676 commonName G1003E CFMDB_1470 protEffect p.Ala1004_Ala1006del CFMDB_1470 commonName 3141del9 CFMDB_426 protEffect p.Ile1005Arg CFMDB_426 commonName I1005R CFMDB_427 protEffect p.Ala1006Glu CFMDB_427 commonName A1006E CFMDB_1262 protEffect p.Val1008SerfsX15 CFMDB_1262 commonName 3152delT CFMDB_428 protEffect p.Val1008SerfsX15 CFMDB_428 commonName 3153delT CFMDB_875 protEffect p.Val1008SerfsX15 CFMDB_875 commonName 3154delG CFMDB_763 protEffect p.Val1008Asp CFMDB_763 commonName V1008D CFMDB_1101 protEffect p.Ala1009Thr CFMDB_1101 commonName A1009T CFMDB_583 protEffect p.Pro1013Leu CFMDB_583 commonName P1013L CFMDB_1372 protEffect p.Pro1013His CFMDB_1372 commonName P1013H CFMDB_429 protEffect p.Tyr1014LeufsX33 CFMDB_429 commonName 3171insC CFMDB_1080 protEffect p.Tyr1014ThrfsX9 CFMDB_1080 commonName 3171delC CFMDB_582 protEffect p.Ile1015LeufsX31 CFMDB_582 commonName 3173delAC CFMDB_829 protEffect p.Tyr1014Cys CFMDB_829 commonName Y1014C CFMDB_1398 protEffect p.Phe1016Ser CFMDB_1398 commonName F1016S CFMDB_1598 protEffect p.Val1020Glu CFMDB_1598 commonName V1020E CFMDB_1263 protEffect p.Pro1021Ala CFMDB_1263 commonName P1021A CFMDB_736 protEffect p.Pro1021Ser CFMDB_736 commonName P1021S CFMDB_430 protEffect p.Ile1023_Val1024del CFMDB_430 commonName 3195del6 CFMDB_431 protEffect p.Val1022_Gln1039del CFMDB_431 commonName 3196del54 CFMDB_828 protEffect p.Ile1023_Val1024del CFMDB_828 commonName 3199del6 CFMDB_1650 protEffect p.Ile1023SerfsX22 CFMDB_1650 commonName 3200_3204delTAGTG CFMDB_1858 protEffect p.Ile1023Thr CFMDB_1858 commonName I1023T CFMDB_1385 protEffect p.Ala1025Asp CFMDB_1385 commonName A1025D CFMDB_1567 protEffect p.Ile1027Thr CFMDB_1567 commonName I1027T CFMDB_1169 protEffect p.Met1028Arg CFMDB_1169 commonName M1028R CFMDB_584 protEffect p.Met1028Ile CFMDB_584 commonName M1028I CFMDB_1400 protEffect p.Tyr1032Asn CFMDB_1400 commonName Y1032N CFMDB_721 protEffect p.Tyr1032Cys CFMDB_721 commonName Y1032C CFMDB_1409 protEffect p.Gln1035X CFMDB_1409 commonName Q1035X CFMDB_1469 protEffect p.Thr1036LeufsX? CFMDB_1469 commonName 3238delA CFMDB_1783 protEffect p.Leu1040Phe CFMDB_2013 protEffect p.Leu1040Arg CFMDB_1142 protEffect p.Gln1042X CFMDB_1142 commonName Q1042X CFMDB_1722 protEffect p.Glu1044Gly CFMDB_1973 protEffect p.Glu1046X CFMDB_937 commonName 3271+ 18C/T CFMDB_827 commonName 3271+ 101C/G CFMDB_1314 protEffect p.Gly1047Arg CFMDB_1314 commonName G1047R CFMDB_1672 commonName 3271+ 1G>T CFMDB_1508 commonName 3271+ 8A>G CFMDB_938 commonName 3271+ 42A/T CFMDB_1666 commonName 3271+ 80A/T CFMDB_1104 commonName 3271+ 183 T to G CFMDB_434 commonName 3271+ 1G- >A CFMDB_970 protEffect p.Gly1047GlnfsX28 CFMDB_970 commonName 3271delGG CFMDB_675 protEffect p.Gly1047Asp CFMDB_675 commonName G1047D CFMDB_436 commonName 3272- 4A- >G CFMDB_437 commonName 3272- 1G- >A CFMDB_1351 commonName 3272- 11A- >G CFMDB_433 commonName 3272- 9A- >T CFMDB_432 commonName 3272- 54del704 CFMDB_1562 commonName 3272- 42 G/T CFMDB_435 commonName 3272- 26A- >G CFMDB_1089 commonName 3272- 33A/G CFMDB_1540 protEffect p.Arg1048Gly CFMDB_1540 commonName R1048G CFMDB_1747 protEffect p.Pro1050Ala CFMDB_1397 protEffect p.Ile1051Val CFMDB_1397 commonName I1051V CFMDB_438 protEffect p.Phe1052Val CFMDB_438 commonName F1052V CFMDB_977 protEffect p.Thr1053Ile CFMDB_977 commonName T1053I CFMDB_439 protEffect p.His1054Asp CFMDB_439 commonName H1054D CFMDB_1577 protEffect p.His1054Arg CFMDB_1577 commonName H1054R CFMDB_1523 protEffect p.His1054Leu CFMDB_1523 commonName H1054 L CFMDB_440 protEffect p.His1054LeufsX6 CFMDB_440 commonName 3293delA CFMDB_676 protEffect p.Thr1057Ala CFMDB_676 commonName T1057A CFMDB_441 protEffect p.Leu1059X CFMDB_441 commonName L1059X CFMDB_777 commonName L1059L (3309A/G) CFMDB_442 protEffect p.Lys1060Thr CFMDB_442 commonName K1060T CFMDB_443 protEffect p.Gly1061Arg CFMDB_443 commonName G1061R CFMDB_2011 protEffect p.Leu1062Leu CFMDB_444 protEffect p.Trp1063CysfsX22 CFMDB_444 commonName 3320ins5 CFMDB_445 protEffect p.Trp1063X CFMDB_445 commonName W1063X CFMDB_801 protEffect p.Leu1065Phe CFMDB_801 commonName L1065F CFMDB_447 protEffect p.Leu1065Arg CFMDB_447 commonName L1065R CFMDB_446 protEffect p.Leu1065Pro CFMDB_446 commonName L1065P CFMDB_448 protEffect p.Arg1066Cys CFMDB_448 commonName R1066C CFMDB_449 protEffect p.Arg1066Ser CFMDB_449 commonName R1066S CFMDB_1974 protEffect p.Arg1066Gly CFMDB_450 protEffect p.Arg1066His CFMDB_450 commonName R1066H CFMDB_451 protEffect p.Arg1066Leu CFMDB_451 commonName R1066L CFMDB_452 protEffect p.Ala1067Thr CFMDB_452 commonName A1067T CFMDB_1631 protEffect p.Ala1067Pro CFMDB_1631 commonName A1067P CFMDB_1758 protEffect p.Ala1067ThrfsX16 CFMDB_1450 protEffect p.Ala1067Gly CFMDB_1450 commonName A1067G CFMDB_1200 protEffect p.Ala1067Asp CFMDB_1200 commonName A1067D CFMDB_778 protEffect p.Ala1067Val CFMDB_778 commonName A1067V CFMDB_779 commonName 3333C/T CFMDB_780 commonName 3336C/T CFMDB_453 protEffect p.Gly1069Arg CFMDB_453 commonName G1069R CFMDB_454 protEffect p.Arg1070Trp CFMDB_454 commonName R1070W CFMDB_455 protEffect p.Arg1070Gln CFMDB_455 commonName R1070Q CFMDB_589 protEffect p.Arg1070Pro CFMDB_589 commonName R1070P CFMDB_1357 protEffect p.Gln1071X CFMDB_1357 commonName Q1071X CFMDB_456 protEffect p.Gln1071Pro CFMDB_456 commonName Q1071P CFMDB_1120 protEffect p.Gln1071His CFMDB_1120 commonName Q1071H CFMDB_963 protEffect p.Pro1072Leu CFMDB_963 commonName P1072L CFMDB_1294 protEffect p.Tyr1073Cys CFMDB_1294 commonName Y1073C CFMDB_2010 protEffect p.Phe1074Leu CFMDB_457 protEffect p.Phe1074Leu CFMDB_457 commonName F1074L CFMDB_458 protEffect p.Leu1077ValfsX78 CFMDB_458 commonName 3359delCT CFMDB_459 protEffect p.Leu1077Pro CFMDB_459 commonName L1077P CFMDB_2005 protEffect p.Phe1078Ile CFMDB_1738 protEffect p.Phe1078Ser CFMDB_1474 protEffect p.His1079Pro CFMDB_1474 commonName H1079P CFMDB_1863 protEffect p.Lys1080Gln CFMDB_1863 commonName K1080Q CFMDB_1359 protEffect p.Lys1080Arg CFMDB_1359 commonName K1080R CFMDB_1966 protEffect p.Lys1080Ile CFMDB_1212 protEffect p.Ala1081Pro CFMDB_1212 commonName A1081P CFMDB_781 commonName 3384A/G CFMDB_460 protEffect p.His1085Arg CFMDB_460 commonName H1085R CFMDB_1354 protEffect p.Thr1086Ala CFMDB_1354 commonName T1086A CFMDB_461 protEffect p.Thr1086Ile CFMDB_461 commonName T1086I CFMDB_1468 protEffect p.Ala1087Pro CFMDB_1468 commonName A1087P CFMDB_855 protEffect p.Asn1088Asp CFMDB_855 commonName N1088D CFMDB_1711 protEffect p.Asn1088LysfsX68 CFMDB_1115 protEffect p.Trp1089GlyfsX13 CFMDB_1115 commonName 3396delC CFMDB_462 protEffect p.Trp1089X CFMDB_462 commonName W1089X CFMDB_747 protEffect p.Tyr1092His CFMDB_747 commonName Y1092H CFMDB_1488 protEffect p.Tyr1092Cys CFMDB_1488 commonName Y1092C CFMDB_463 protEffect p.Tyr1092X CFMDB_463 commonName Y1092X(C- >A) CFMDB_464 protEffect p.Tyr1092X CFMDB_464 commonName Y1092X(C- >G) CFMDB_594 protEffect p.Leu1093Pro CFMDB_594 commonName L1093P CFMDB_782 commonName 3417A/T CFMDB_1110 protEffect p.Leu1096Arg CFMDB_1110 commonName L1096R CFMDB_465 protEffect p.Leu1096ArgfsX6 CFMDB_465 commonName 3419delT CFMDB_466 protEffect p.Trp1098GlyfsX4 CFMDB_466 commonName 3423delC CFMDB_467 protEffect p.Trp1098Arg CFMDB_467 commonName W1098R CFMDB_1641 protEffect p.Trp1098Leu CFMDB_1641 commonName W1098L CFMDB_468 protEffect p.Trp1098X CFMDB_468 commonName W1098X(TAG) CFMDB_469 protEffect p.Trp1098CysfsX4 CFMDB_469 commonName 3425delG CFMDB_638 protEffect p.Trp1098X CFMDB_638 commonName W1098X(TGA) CFMDB_2003 protEffect p.Trp1098Cys CFMDB_470 protEffect p.Gln1100Pro CFMDB_470 commonName Q1100P CFMDB_472 protEffect p.Met1101Arg CFMDB_472 commonName M1101R CFMDB_471 protEffect p.Met1101Lys CFMDB_471 commonName M1101K CFMDB_1435 protEffect p.Arg1102X CFMDB_1435 commonName R1102X CFMDB_1688 commonName 3438A/G CFMDB_1937 protEffect p.Ile1103Lys CFMDB_473 protEffect p.Glu1104X CFMDB_473 commonName E1104X CFMDB_1977 protEffect p.Glu1104Lys CFMDB_1315 protEffect p.Met1105Arg CFMDB_1315 commonName M1105R CFMDB_1669 protEffect p.Met1105IlefsX16 CFMDB_1669 commonName 3447delG CFMDB_1515 protEffect p.Val1108Leu CFMDB_1515 commonName V1108L CFMDB_1890 protEffect p.Phe1111ThrfsX10 CFMDB_1849 protEffect p.Phe1111Leu CFMDB_1849 commonName F1111L CFMDB_783 commonName 3471T/C CFMDB_1157 commonName 3477C/A CFMDB_993 protEffect p.Ser1118Cys CFMDB_993 commonName S1118C CFMDB_897 protEffect p.Ser1118Phe CFMDB_897 commonName S1118F CFMDB_474 protEffect p.Thr1122GlnfsX12 CFMDB_474 commonName 3495delA CFMDB_478 commonName 3499+ 2T- >C CFMDB_941 commonName 3499+ 45T/C CFMDB_475 protEffect p.Gly1123Arg CFMDB_475 commonName G1123R CFMDB_1316 commonName 3499+ 7T- >G CFMDB_1674 commonName 3499+ 29G/A CFMDB_940 commonName 3499+ 37G/A CFMDB_677 commonName 3499+ 3A- >G CFMDB_476 commonName 3499+ 6A- >G CFMDB_943 commonName 3500- 140A/C CFMDB_1561 commonName 3500- 50 A/C CFMDB_967 commonName 3500- 2A- >G CFMDB_1588 commonName 3500 - 1 G to A CFMDB_693 commonName 3500- 44G/A CFMDB_804 protEffect p.Glu1124del CFMDB_804 commonName E1123del CFMDB_477 protEffect p.Gly1127Glu CFMDB_477 commonName G1127E CFMDB_678 protEffect p.Arg1128X CFMDB_678 commonName R1128X CFMDB_1252 protEffect p.Val1129Gly CFMDB_1252 commonName V1129G CFMDB_1651 protEffect p.Val1129Gly CFMDB_1651 commonName V1129G CFMDB_1218 protEffect p.Gly1130Ala CFMDB_1218 commonName G1130A CFMDB_1055 protEffect p.Ile1131Val CFMDB_1055 commonName 3523A- >G CFMDB_881 protEffect p.Thr1134Ala CFMDB_881 commonName 3532AC- >GTA CFMDB_1167 protEffect p.Ala1136Thr CFMDB_1167 commonName A1136T CFMDB_479 protEffect p.Met1137Val CFMDB_479 commonName M1137V CFMDB_1549 protEffect p.Met1137Thr CFMDB_1549 commonName M1137T CFMDB_480 protEffect p.Met1137Arg CFMDB_480 commonName M1137R CFMDB_481 protEffect p.Ile1139Val CFMDB_481 commonName I1139V CFMDB_482 protEffect p.Met1140del CFMDB_482 commonName [delta]M1140 CFMDB_898 protEffect p.Met1140Lys CFMDB_898 commonName M1140K CFMDB_483 protEffect p.Thr1142LysfsX15 CFMDB_483 commonName 3556insAGTA CFMDB_1170 protEffect p.Thr1142Ile CFMDB_1170 commonName T1142I CFMDB_484 protEffect p.Gln1144X CFMDB_484 commonName Q1144X CFMDB_1757 protEffect p.Trp1145X CFMDB_1117 protEffect p.Trp1145X CFMDB_1117 commonName W1145X CFMDB_834 protEffect p.Val1147Ile CFMDB_834 commonName V1147I CFMDB_1374 protEffect p.Asn1148Ser CFMDB_1374 commonName N1148S CFMDB_1126 protEffect p.Asn1148Lys CFMDB_1126 commonName N1148K CFMDB_838 protEffect p.Ser1149ProfsX3 CFMDB_838 commonName 3577delT CFMDB_485 protEffect p.Asp1152His CFMDB_485 commonName D1152H CFMDB_679 protEffect p.Val1153Glu CFMDB_679 commonName V1153E CFMDB_1662 protEffect p.Asp1154Tyr CFMDB_1662 commonName D1154Y CFMDB_486 protEffect p.Asp1154Gly CFMDB_486 commonName D1154G CFMDB_1174 commonName 3600+ 2T- >C CFMDB_1640 protEffect p.Leu1156Phe CFMDB_1640 commonName L1156F CFMDB_694 commonName 3600+ 42G/A CFMDB_488 commonName 3600+ 5G- >A CFMDB_845 commonName 3600+ 2insT CFMDB_487 commonName 3600G- >A CFMDB_945 commonName 3601- 111G/C CFMDB_944 commonName 3601- 65C/A CFMDB_608 commonName 3601- 20T- >C CFMDB_489 commonName 3601- 17T- >C CFMDB_490 commonName 3601- 2A- >G CFMDB_491 protEffect p.Arg1158X CFMDB_491 commonName R1158X CFMDB_1879 protEffect p.Arg1158Arg CFMDB_492 protEffect p.Ser1159Pro CFMDB_492 commonName S1159P CFMDB_1158 protEffect p.Ser1159Phe CFMDB_1158 commonName S1159F CFMDB_1745 protEffect p.Ser1159Tyr CFMDB_1317 protEffect p.Ser1161Arg CFMDB_1317 commonName S1161R CFMDB_493 protEffect p.Arg1162X CFMDB_493 commonName R1162X CFMDB_784 protEffect p.Arg1162Leu CFMDB_784 commonName 3617G/T CFMDB_1673 protEffect p.Val1163LeufsX2 CFMDB_1673 commonName 3617delGA CFMDB_607 protEffect p.Lys1165X CFMDB_607 commonName 3622insT CFMDB_1903 protEffect p.Lys1165Thr CFMDB_1366 protEffect p.Phe1166Cys CFMDB_1366 commonName F1166C CFMDB_1350 protEffect p.Phe1166SerfsX26 CFMDB_1350 commonName 3629delT CFMDB_494 protEffect p.Asp1168Gly CFMDB_494 commonName D1168G CFMDB_1560 commonName 3636 C/T CFMDB_495 protEffect p.Lys1177SerfsX15 CFMDB_495 commonName 3659delC CFMDB_1216 protEffect p.Lys1177X CFMDB_1216 commonName K1177X CFMDB_496 protEffect p.Lys1177Arg CFMDB_496 commonName K1177R CFMDB_497 protEffect p.Lys1177SerfsX15 CFMDB_497 commonName 3662delA CFMDB_499 protEffect p.Thr1179IlefsX17 CFMDB_499 commonName 3667ins4 CFMDB_498 protEffect p.Thr1179AsnfsX12 CFMDB_498 commonName 3667del4 CFMDB_1050 protEffect p.Lys1180AsnfsX12 CFMDB_1050 commonName 3670delA CFMDB_500 protEffect p.Tyr1182X CFMDB_500 commonName Y1182X CFMDB_602 protEffect p.Gln1186X CFMDB_602 commonName Q1186X CFMDB_785 commonName Q1186Q (3690A/G) CFMDB_984 commonName 3696G/A CFMDB_501 protEffect p.Val1190Asp CFMDB_501 commonName V1190D CFMDB_1288 protEffect p.Asn1195Thr CFMDB_1288 commonName N1195T CFMDB_502 protEffect p.Ser1196X CFMDB_502 commonName S1196X CFMDB_503 protEffect p.Val1198X CFMDB_503 commonName 3724delG CFMDB_786 commonName 3726G/T CFMDB_1930 protEffect p.Lys1200SerfsX12 CFMDB_504 protEffect p.Asp1201MetfsX10 CFMDB_504 commonName 3732delA CFMDB_505 protEffect p.Asp1202AlafsX9 CFMDB_505 commonName 3737delA CFMDB_1990 protEffect p.Ile1203Val CFMDB_506 protEffect p.Trp1204X CFMDB_506 commonName W1204X(3743G- >A) CFMDB_1511 protEffect p.Trp1204X CFMDB_1511 commonName W1204X(3744G- >A) CFMDB_1440 protEffect p.Ser1206X CFMDB_1440 commonName S1206X(C>A) CFMDB_623 protEffect p.Ser1206X CFMDB_623 commonName S1206X CFMDB_507 protEffect p.Gly1208ProfsX56 CFMDB_507 commonName 3750delAG CFMDB_960 protEffect p.Gly1208AlafsX3 CFMDB_960 commonName 3755delG CFMDB_2008 protEffect p.Gln1209His CFMDB_1399 protEffect p.Met1210Lys CFMDB_1399 commonName M1210K CFMDB_508 protEffect p.Met1210Ile CFMDB_508 commonName M1210I CFMDB_509 protEffect p.Val1212Ile CFMDB_509 commonName V1212I CFMDB_1878 protEffect p.Val1212Phe CFMDB_1559 commonName 3780 A/C CFMDB_890 protEffect p.Thr1220AsnfsX45 CFMDB_890 commonName 3789insA CFMDB_510 protEffect p.Thr1220LysfsX8 CFMDB_510 commonName 3791delC CFMDB_787 protEffect p.Thr1220Ile CFMDB_787 commonName 3791C/T CFMDB_1900 protEffect p.Gly1222ValfsX44 CFMDB_1904 protEffect p.Ala1225Val CFMDB_812 protEffect p.Leu1227Ser CFMDB_812 commonName L1227S CFMDB_1882 protEffect p.Leu1227Leu CFMDB_1847 protEffect p.Glu1228Lys CFMDB_1847 commonName E1228K CFMDB_1084 protEffect p.Glu1228Gly CFMDB_1084 commonName E1228G CFMDB_1746 protEffect p.Asn1229Lys CFMDB_728 protEffect p.Ile1230Thr CFMDB_728 commonName I1230T CFMDB_1230 protEffect p.Ser1231ProfsX4 CFMDB_1230 commonName 3821- 3823del T CFMDB_511 protEffect p.Ser1231ProfsX4 CFMDB_511 commonName 3821delT CFMDB_628 protEffect p.Ile1234Leu CFMDB_628 commonName I1234L CFMDB_512 protEffect p.Ile1234Val CFMDB_512 commonName I1234V CFMDB_513 protEffect p.Ser1235Arg CFMDB_513 commonName S1235R CFMDB_1975 protEffect p.Gly1237AlafsX22 CFMDB_1127 protEffect p.Gly1237Ser CFMDB_1127 commonName G1237S CFMDB_514 protEffect p.Gln1238X CFMDB_514 commonName Q1238X CFMDB_515 protEffect p.Gln1238Arg CFMDB_515 commonName Q1238R CFMDB_518 commonName 3849+ 10kbC- >T CFMDB_516 commonName 3849G- >A CFMDB_1695 protEffect p.Arg1239Ser CFMDB_1695 commonName R1239S CFMDB_1319 commonName 3849+ 40A- >G CFMDB_1320 commonName 3849+ 45G- >A CFMDB_519 commonName 3849+ 4A- >G CFMDB_847 commonName 3849+ 5G- >A CFMDB_517 commonName 3849+ 1G- >A CFMDB_595 commonName 3850- 129T/C CFMDB_741 commonName 3850- 79T/C CFMDB_1616 commonName 3850- 41C/G CFMDB_521 commonName 3850- 3T- >G CFMDB_520 commonName 3850- 1G- >A CFMDB_1054 protEffect p.Val1240Gly CFMDB_1054 commonName V1240G CFMDB_522 commonName 3860ins31 CFMDB_1481 protEffect p.Gly1244Arg CFMDB_1481 commonName G1244R CFMDB_523 protEffect p.Gly1244Glu CFMDB_523 commonName G1244E CFMDB_524 protEffect p.Gly1244Val CFMDB_524 commonName G1244V CFMDB_788 commonName 3867A/G CFMDB_525 protEffect p.Thr1246Ile CFMDB_525 commonName T1246I CFMDB_1490 protEffect p.Gly1247Arg CFMDB_1490 commonName G1247R(G- >C) CFMDB_599 protEffect p.Gly1247Arg CFMDB_599 commonName G1247R(G- >A) CFMDB_808 protEffect p.Lys1250ArgfsX9 CFMDB_808 commonName 3876delA CFMDB_526 protEffect p.Gly1249Arg CFMDB_526 commonName G1249R CFMDB_527 protEffect p.Gly1249Glu CFMDB_527 commonName G1249E CFMDB_1040 protEffect p.Lys1250ArgfsX9 CFMDB_1040 commonName 3878delG CFMDB_528 protEffect p.Ser1251Asn CFMDB_528 commonName S1251N CFMDB_609 protEffect p.Thr1252Pro CFMDB_609 commonName T1252P CFMDB_1615 commonName 3891 G/A CFMDB_1867 protEffect p.Leu1253Phe CFMDB_1867 commonName L1253F CFMDB_529 protEffect p.Leu1254X CFMDB_529 commonName L1254X CFMDB_1751 protEffect p.Leu1254Phe CFMDB_530 protEffect p.Ser1255Pro CFMDB_530 commonName S1255P CFMDB_698 protEffect p.Ser1255Leu CFMDB_698 commonName S1255L CFMDB_531 protEffect p.Ser1255X CFMDB_531 commonName S1255X CFMDB_532 protEffect p.Leu1258PhefsX7 CFMDB_532 commonName 3898insC CFMDB_1842 protEffect p.Ala1256Val CFMDB_1842 commonName A1256V CFMDB_899 protEffect p.Phe1257Leu CFMDB_899 commonName F1257L CFMDB_533 protEffect p.Leu1258PhefsX7 CFMDB_533 commonName 3905insT CFMDB_534 protEffect p.Arg1259GlufsX6 CFMDB_534 commonName 3906insG CFMDB_535 protEffect p.Leu1261del CFMDB_535 commonName [delta]L1260 CFMDB_1327 protEffect p.Leu1260Arg CFMDB_1327 commonName L1260R CFMDB_1582 protEffect p.Thr1263Ala CFMDB_1582 commonName T1263A CFMDB_1404 protEffect p.Thr1263Ile CFMDB_1404 commonName T1263I CFMDB_606 protEffect p.Glu1264SerfsX11 CFMDB_606 commonName 3922del10- >C CFMDB_1773 protEffect p.Ile1267Asn CFMDB_1623 protEffect p.Gln1268Arg CFMDB_1623 commonName Q1268R CFMDB_536 protEffect p.Ile1269Asn CFMDB_536 commonName I1269N CFMDB_789 commonName 3939C/T CFMDB_537 protEffect p.Asp1270Asn CFMDB_537 commonName D1270N CFMDB_1475 protEffect p.Asp1270Tyr CFMDB_1475 commonName D1270Y CFMDB_839 protEffect p.Ser1273LeufsX28 CFMDB_839 commonName 3944delGT CFMDB_1992 protEffect p.Ser1273LeufsX28 CFMDB_989 protEffect p.Trp1274X CFMDB_989 commonName W1274X CFMDB_1883 protEffect p.Asp1275Asp CFMDB_1332 protEffect p.Ile1277X CFMDB_1332 commonName 3960- 3961delA CFMDB_1770 protEffect p.Leu1279AlafsX22 CFMDB_1734 protEffect p.Leu1279Leu CFMDB_680 protEffect p.Gln1281X CFMDB_680 commonName Q1281X CFMDB_597 protEffect p.Trp1282Gly CFMDB_597 commonName W1282G CFMDB_538 protEffect p.Trp1282Arg CFMDB_538 commonName W1282R CFMDB_708 protEffect p.Trp1282Cys CFMDB_708 commonName W1282C CFMDB_539 protEffect p.Trp1282X CFMDB_539 commonName W1282X CFMDB_1744 protEffect p.Arg1283Gly CFMDB_541 protEffect p.Arg1283Met CFMDB_541 commonName R1283M CFMDB_540 protEffect p.Arg1283Lys CFMDB_540 commonName R1283K CFMDB_1834 commonName 3849+ 12192G>A CFMDB_1793 protEffect p.Ala1285Val CFMDB_1727 protEffect p.Phe1286LeufsX3 CFMDB_1843 protEffect p.Ala1285Val CFMDB_1843 commonName A1285V CFMDB_542 protEffect p.Phe1286Ser CFMDB_542 commonName F1286S CFMDB_1584 protEffect p.Pro1290Thr CFMDB_1584 commonName P1290T CFMDB_1513 protEffect p.Pro1290Ser CFMDB_1513 commonName P1290S CFMDB_790 commonName P1290P (4002A/G) CFMDB_1098 protEffect p.Gln1291X CFMDB_1098 commonName Q1291X CFMDB_543 protEffect p.Gln1291Arg CFMDB_543 commonName Q1291R CFMDB_756 commonName 4005+ 2T- >C CFMDB_1321 commonName 4005+ 29G- >C CFMDB_544 protEffect p.Gln1291His CFMDB_544 commonName Q1291H CFMDB_545 commonName 4005+ 1G- >A CFMDB_1659 commonName 4005+ 23delA CFMDB_1322 commonName 4005+ 33A- >G CFMDB_946 commonName 4005+ 117T/G CFMDB_947 commonName 4005+ 121delTT CFMDB_1835 commonName 4005+ 3G>T CFMDB_1557 commonName 4006- 50 A/C CFMDB_1558 commonName 4006- 26 T/C CFMDB_644 commonName 4006- 14C- >G CFMDB_1628 commonName 4006- 11 t- >G CFMDB_681 commonName 4006- 4A- >G CFMDB_547 commonName 4006- 19del3 CFMDB_949 commonName 4006- 200G/A CFMDB_614 commonName 4006- 103delT CFMDB_546 commonName 4006- 61del14 CFMDB_727 commonName 4006- 8T- >A CFMDB_1389 commonName 4006- 46delTATTT CFMDB_1051 protEffect p.Val1293TyrfsX35 CFMDB_1051 commonName 4006delA CFMDB_744 protEffect p.Val1293Ile CFMDB_744 commonName V1293I CFMDB_548 protEffect p.Ile1295PhefsX32 CFMDB_548 commonName 4010del4 CFMDB_549 protEffect p.Ile1295PhefsX33 CFMDB_549 commonName 4015delA CFMDB_550 protEffect p.Ser1297PhefsX5 CFMDB_550 commonName 4016insT CFMDB_1417 protEffect p.Gly1298TrpfsX4 CFMDB_1417 commonName 4022insT CFMDB_1854 protEffect p.Gly1298Ala CFMDB_1854 commonName G1298A CFMDB_1957 protEffect p.Gly1298Val CFMDB_682 protEffect p.Thr1299Ile CFMDB_682 commonName T1299I CFMDB_791 commonName 4029A/G CFMDB_645 protEffect p.Phe1300Leu CFMDB_645 commonName F1300L CFMDB_1427 protEffect p.Lys1302Arg CFMDB_1427 commonName K1302R CFMDB_551 protEffect p.Asn1303His CFMDB_551 commonName N1303H CFMDB_553 protEffect p.Asn1303Ile CFMDB_553 commonName N1303I CFMDB_552 protEffect p.Asn1303ThrfsX25 CFMDB_552 commonName 4040delA CFMDB_1762 protEffect p.Asn1303LysfsX6 CFMDB_554 protEffect p.Asn1303Lys CFMDB_554 commonName N1303K CFMDB_1599 protEffect p.Leu1304_Asp1305delinsVal1304 CFMDB_1599 commonName 4041_4046del6insTGT CFMDB_1753 protEffect p.Leu1304Met CFMDB_738 protEffect p.Asp1305Glu CFMDB_738 commonName D1305E CFMDB_555 protEffect p.Tyr1307ProfsX22 CFMDB_555 commonName 4048insCC CFMDB_792 commonName P1306P (4050C/T) CFMDB_1279 protEffect p.Tyr1307Cys CFMDB_1279 commonName Y1307C CFMDB_992 protEffect p.Tyr1307X CFMDB_992 commonName Y1307X CFMDB_719 protEffect p.Glu1308X CFMDB_719 commonName E1308X CFMDB_1928 protEffect p.Gln1309Glu CFMDB_1938 protEffect p.Gln1309X CFMDB_1600 protEffect p.Gln1309His CFMDB_1600 commonName Q1309H CFMDB_556 protEffect p.Trp1310X CFMDB_556 commonName W1310X CFMDB_1323 protEffect p.Ser1311Gly CFMDB_1323 commonName S1311R CFMDB_1759 protEffect p.Ser1311LysfsX12 CFMDB_1901 protEffect p.Ser1311Asn CFMDB_1654 protEffect p.Asp1312Gly CFMDB_1654 commonName D1312G CFMDB_683 protEffect p.Gln1313Lys CFMDB_683 commonName Q1313K CFMDB_557 protEffect p.Gln1313X CFMDB_557 commonName Q1313X CFMDB_558 protEffect p.Trp1316X CFMDB_558 commonName W1316X CFMDB_903 protEffect p.Val1318Ala CFMDB_903 commonName V1318A CFMDB_1997 protEffect p.Val1318Gly CFMDB_793 commonName 4086T/C CFMDB_1700 protEffect p.Ala1319Glu CFMDB_1700 commonName A1319E CFMDB_1836 protEffect p.Asp1320ArgfsX3 CFMDB_1836 commonName 4089ins4 CFMDB_559 protEffect p.Glu1321Gln CFMDB_559 commonName E1321Q CFMDB_1415 commonName CFTRdele22, 23 CFMDB_1601 commonName 4095+ 1G>C CFMDB_612 commonName 4095+ 42T/C CFMDB_1655 commonName 4095+ 1G- >T CFMDB_1370 commonName 4095+ 2T- >A CFMDB_950 commonName 4096- 283T/C CFMDB_1837 commonName 4096- 6C>T CFMDB_709 commonName 4096- 3C- >G CFMDB_1260 commonName 4096- 1G- >A CFMDB_684 commonName 4096- 28G- >A CFMDB_1377 protEffect p.Leu1324Pro CFMDB_1377 commonName L1324P CFMDB_633 protEffect p.Ser1326LeufsX2 CFMDB_633 commonName 4108delT CFMDB_560 protEffect p.Ile1328LeufsX? CFMDB_560 commonName 4114ATA- >TT CFMDB_1730 protEffect p.Glu1329Gln CFMDB_1982 protEffect p.Glu1329Val CFMDB_1855 protEffect p.Gly1333Trp CFMDB_1855 commonName G1333W CFMDB_1580 protEffect p.Leu1335Phe CFMDB_1580 commonName L1335F CFMDB_807 protEffect p.Leu1335Pro CFMDB_807 commonName L1335P CFMDB_819 protEffect p.Phe1337Val CFMDB_819 commonName F1337V CFMDB_1201 protEffect p.Leu1339Phe CFMDB_1201 commonName L1339F CFMDB_1784 protEffect p.Gly1343Ser CFMDB_1802 protEffect p.Cys1344GlyfsX16 CFMDB_1484 protEffect p.Leu1346MetfsX6 CFMDB_1484 commonName 4168delCTAAGCC CFMDB_1713 protEffect p.Ser1347ProfsX13 CFMDB_1602 protEffect p.Ser1347LysfsX12 CFMDB_1602 commonName 4171insA CFMDB_561 protEffect p.Ser1347ThrfsX11 CFMDB_561 commonName 4172delGC CFMDB_562 protEffect p.His1348MetfsX6 CFMDB_562 commonName 4173delC CFMDB_998 protEffect p.Gly1349Ser CFMDB_998 commonName G1349S CFMDB_563 protEffect p.Gly1349Asp CFMDB_563 commonName G1349D CFMDB_634 protEffect p.Lys1351Glu CFMDB_634 commonName K1351E CFMDB_1586 protEffect p.Gln1352Glu CFMDB_1586 commonName Q1352E CFMDB_564 protEffect p.Gln1352His CFMDB_564 commonName Q1352H(G- >C) CFMDB_1446 protEffect p.Gln1352His CFMDB_1446 commonName Q1352H(G- >T) CFMDB_1202 protEffect p.Ala1357LeufsX? CFMDB_1202 commonName 4203TAG- >AA CFMDB_1159 protEffect p.Arg1358Ser CFMDB_1159 commonName R1358S CFMDB_1472 protEffect p.Val1360delfsX? CFMDB_1472 commonName 4209TGTT- >AA CFMDB_565 protEffect p.Lys1363X CFMDB_565 commonName 4218insT CFMDB_566 protEffect p.Ala1364Val CFMDB_566 commonName A1364V CFMDB_1160 protEffect p.Ile1366Thr CFMDB_1160 commonName I1366T CFMDB_1976 protEffect p.Ile1366Asn CFMDB_1764 protEffect p.Ile1384X CFMDB_567 protEffect p.Glu1371X CFMDB_567 commonName E1371X CFMDB_1776 protEffect p.Glu1371dup CFMDB_1353 protEffect p.Pro1372Thr CFMDB_1353 commonName P1372T CFMDB_1507 protEffect p.Pro1372Leu CFMDB_1507 commonName P1372 L CFMDB_1768 protEffect p.His1375Asn CFMDB_1491 protEffect p.His1375Pro CFMDB_1491 commonName H1375P CFMDB_1932 protEffect p.Leu1376SerfsX8 CFMDB_568 protEffect p.Asp1377His CFMDB_568 commonName D1377H CFMDB_621 commonName 4269- 139G/A CFMDB_1037 commonName 4269- 108A- >G CFMDB_569 protEffect p.Thr1380AsnfsX4 CFMDB_569 commonName 4271delC CFMDB_1452 protEffect p.Tyr1381ThrfsX3 CFMDB_1452 commonName 4272delA CFMDB_1573 protEffect p.Tyr1381His CFMDB_1573 commonName Y1381H CFMDB_1275 protEffect p.Tyr1381X CFMDB_1275 commonName Y1381X CFMDB_959 protEffect p.Gln1382X CFMDB_959 commonName Q1382X CFMDB_570 protEffect p.Ile1383AsnfsX3 CFMDB_570 commonName 4279insA CFMDB_1622 protEffect p.Leu1388Val CFMDB_1622 commonName L1388V CFMDB_685 protEffect p.Leu1388Gln CFMDB_685 commonName L1388Q CFMDB_1652 protEffect p.Gln1390X CFMDB_1652 commonName Q1390X CFMDB_1213 protEffect p.Ala1391HisfsX7 CFMDB_1213 commonName 4301(4302?)delA CFMDB_1884 protEffect p.Asp1394Asp CFMDB_571 protEffect p.Val1397Glu CFMDB_571 commonName V1397E CFMDB_1479 protEffect p.Ile1398Ser CFMDB_1479 commonName I1398S CFMDB_573 protEffect p.Cys1400X CFMDB_573 commonName 4326delTC CFMDB_1665 protEffect p.Cys1400X CFMDB_1665 commonName 4326delTC CFMDB_1658 commonName 4329C/G CFMDB_1741 protEffect p.Leu1399Leu CFMDB_1111 protEffect p.Cys1400X CFMDB_1111 commonName 4332delTG CFMDB_1732 protEffect p.Glu1401GlyfsX61 CFMDB_1514 protEffect p.Glu1401Lys CFMDB_1514 commonName E1401K CFMDB_854 protEffect p.Glu1401X CFMDB_854 commonName E1401X CFMDB_1250 protEffect p.Glu1401Ala CFMDB_1250 commonName E1401A CFMDB_1603 protEffect p.Glu1401Gly CFMDB_1603 commonName E1401G CFMDB_1378 protEffect p.Met1407Thr CFMDB_1378 commonName M1407T CFMDB_794 commonName 4356G/A CFMDB_1364 protEffect p.Glu1409Lys CFMDB_1364 commonName E1409K CFMDB_572 protEffect p.Glu1409Val CFMDB_572 commonName E1409V CFMDB_574 protEffect p.Gln1411X CFMDB_574 commonName Q1411X CFMDB_1959 protEffect p.Gln1411Pro CFMDB_575 protEffect p.Gln1412X CFMDB_575 commonName Q1412X CFMDB_1547 protEffect p.Leu1414Ser CFMDB_1547 commonName L1414S CFMDB_1838 commonName 4374+ 2T>C CFMDB_917 commonName 4374+ 10T- >C CFMDB_951 commonName 4374+ 13A/G CFMDB_952 commonName 4374+ 14A/G CFMDB_576 commonName 4374+ 1G- >A CFMDB_577 commonName 4374+ 1G- >T CFMDB_1604 protEffect p.Leu1414Phe CFMDB_1604 commonName 4374_4374+ 1GG>TT CFMDB_953 commonName 4375- 15C/T CFMDB_1251 commonName 4375- 2A- >C CFMDB_1038 commonName 4375- 1G- >C CFMDB_1743 commonName 4375- 7delT CFMDB_578 protEffect p.Glu1418ArgfsX14 CFMDB_578 commonName 4382delA CFMDB_1428 protEffect p.Glu1418X CFMDB_1428 commonName E1418X CFMDB_814 protEffect p.Arg1422Trp CFMDB_814 commonName R1422W CFMDB_795 commonName 4404C/T CFMDB_1771 protEffect p.Tyr1424X CFMDB_1161 protEffect p.Ser1426Pro CFMDB_1161 commonName S1426P CFMDB_1276 protEffect p.Ser1426Phe CFMDB_1276 commonName S1426F CFMDB_1859 protEffect p.Ile427Thr CFMDB_1859 commonName I1427T CFMDB_700 protEffect p.Asn1432Lys CFMDB_700 commonName N1432K CFMDB_846 protEffect p.Ser1435GlyfsX14 CFMDB_846 commonName 4428insGA CFMDB_1406 protEffect p.Arg1438Trp CFMDB_1406 commonName R1438W CFMDB_1962 protEffect p.Ala1440Ala CFMDB_1556 commonName 4464 C/T CFMDB_629 protEffect p.Asp1445Asn CFMDB_629 commonName D1445N CFMDB_1014 protEffect p.Arg1453Trp CFMDB_1014 commonName R1453W CFMDB_579 protEffect p.Ser1455X CFMDB_579 commonName S1455X CFMDB_1978 protEffect p.Ser1456Asn CFMDB_1816 protEffect p.Lys1459Lys CFMDB_1543 protEffect p.Gln1463His CFMDB_1543 commonName Q1463H CFMDB_796 commonName 4521G/A CFMDB_1825 protEffect p.Lys1468Asn CFMDB_1341 protEffect p.Glu1473X CFMDB_1341 commonName E1473X CFMDB_1550 commonName 4557 G/A CFMDB_1034 protEffect p.Gln1476X CFMDB_1034 commonName Q1476X CFMDB_1162 commonName 4563T/C CFMDB_1542 protEffect p.Leu1480Pro CFMDB_1542 commonName L1480P CFMDB_1324 commonName 4575+ 2G- >A CFMDB_1039 commonName 4655T- >G CFMDB_1369 commonName CFTRdele14b- 17b CFMDB_580 commonName CFTR50kbdel CFMDB_1664 commonName CFTRdup1- 3 CFMDB_1380 commonName CFTRdele1 CFMDB_1411 commonName CFTRdele1Ins299bp CFMDB_1430 commonName CFTRdele1 or 136del119ins299 CFMDB_1429 commonName CFTRdele1- 24 CFMDB_687 protEffect p.Ser18ArgfsX16 CFMDB_687 commonName CFTRdele2, 3 CFMDB_686 commonName CFTRdele2 CFMDB_1105 commonName CFTRdele2- 10 CFMDB_1381 commonName CFTRdele3- 10, 14b- 16 CFMDB_1431 commonName CFTRdele3- 10, 14b- 16 CFMDB_1412 commonName CFTRdele4Ins41bp CFMDB_1413 commonName CFTRdele4- 6aIns6bp CFMDB_1407 commonName CFTRdup4- 8 CFMDB_581 commonName CFTR40kbdel CFMDB_1607 commonName CFTRdup10_18 CFMDB_1606 commonName CFTRdup11_13 CFMDB_1414 commonName CFTRdele11- 16Ins35bp CFMDB_689 commonName CFTRdele14a CFMDB_642 commonName CFTRdele14b- 18 CFMDB_1106 commonName CFTRdele16- 17b CFMDB_1085 commonName CFTRdele17b18 CFMDB_1205 commonName CFTRdele19 CFMDB_1086 commonName CFTRdele21 CFMDB_1522 commonName 120del23 CFMDB_1356 protEffect p.Leu454_Val456del CFMDB_1356 commonName 1491- 1500del CFMDB_1456 commonName Del exon 17a- 17b- 18 CFMDB_1434 commonName 3413del355_insTGTTAA CFMDB_1454 commonName Del Pr- Ex1 CFMDB_1457 commonName Del exon 17a- 17b CFMDB_1433 commonName 3121- 977_3499+ 248del2515 CFMDB_1498 protEffect p.Ser429_Val440delfsX1 CFMDB_1498 commonName 1429del7bp CFMDB_1518 commonName delePr- 3 CFMDB_1453 commonName Del Pr- Ex1- Ex2 CFMDB_1480 commonName Dup ex 6b- 10 (gIVS6a+ 415_IVS10+ 2987Dup26817bp) CFMDB_1459 commonName Del exon 4- 6a CFMDB_1460 commonName Del exon 2- 3 CFMDB_1605 commonName delEx2- 6b CFMDB_1455 commonName Del exon 22- 24 CFMDB_1458 commonName Del exon 22- 23 CFMDB_1533 commonName delEx2- 9 CFMDB_1432 commonName 2752- 674_3499+ 198del9855 CFMDB_1204 commonName 4375- 36delT CBS_c.833T>C commonName 833 T>C CBS_c.833T>C protEffect I278T CBS_c.572C>T commonName 572 C>T CBS_c.572C>T protEffect T191M CBS_c.919G>A commonName 919 G>A CBS_c.919G>A protEffect G307S CBS_c.1006C>T commonName 1006 C>T CBS_c.1006C>T protEffect R336C CBS_g.22159A>C commonName IVS11-2 A>C CBS_g.22159A>C protEffect del ex 12 CBS_c.969G>A commonName 969 G>A CBS_c.969G>A protEffect W323X CBS_c.1330G>A commonName 1330 G>A CBS_c.1330G>A protEffect D444N CBS_c.374G>A commonName 374 G>A CBS_c.374G>A protEffect R125Q CBS_c.430G>A commonName 430 G>A CBS_c.430G>A protEffect E144K CBS_c.1058C>T commonName 1058 C>T CBS_c.1058C>T protEffect T353M CBS_c.797G>A commonName 797 G>A CBS_c.797G>A protEffect R266K CBS_c.1566delG commonName 1566delG CBS_c.1566delG protEffect fs, stop at aa 540 CBS_c.785C>T commonName 785 C>T CBS_c.785C>T protEffect T262M CBS_c.341C>T commonName 341 C>T CBS_c.341C>T protEffect A114V CBS_c.494G>A commonName 494 G>A CBS_c.494G>A protEffect C165Y CBS_c.362G>A commonName 362 G>A CBS_c.362G>A protEffect R121H CBS_c.904G>A commonName 904 G>A CBS_c.904G>A protEffect E302K CBS_c.253G>A commonName 253 G>A CBS_c.253G>A protEffect G85R CBS_c.1039G>A commonName 1039 G>A CBS_c.1039G>A protEffect G347S CBS_c.302T>C commonName 302 T>C CBS_c.302T>C protEffect L101P CBS_c.676G>A commonName 676 G>A CBS_c.676G>A protEffect A226T CBS_c.1321A>T commonName 1321 A>T CBS_c.1321A>T protEffect K441X CBS_c.457G>A commonName 457 G>A CBS_c.457G>A protEffect G153R CBS_c.451G>A commonName 451 G>A CBS_c.451G>A protEffect G151R CBS_c.770C>T commonName 770 C>T CBS_c.770C>T protEffect T257M CBS_c.862G>A commonName 862 G>A CBS_c.862G>A protEffect A288T CBS_c.700G>A commonName 700 G>A CBS_c.700G>A protEffect D234N CBS_c.959T>C commonName 959 T>C CBS_c.959T>C protEffect V320A CBS_c.373C>T commonName 373 C>T CBS_c.373C>T protEffect R125W CBS_c.19_20insC commonName 19insC CBS_c.19_20insC protEffect fs, stop at aa 36 CBS_c.1007G>A commonName 1007 G>A CBS_c.1007G>A protEffect R336H CBS_g.9152G>A commonName IVS1+1G>A CBS_g.9152G>A protEffect del ex1 or 153del57 CBS_c.346G>A commonName 346 G>A CBS_c.346G>A protEffect G116R CBS_c.146C>T commonName 146 C>T CBS_c.146C>T protEffect P49L CBS_c.361C>T commonName 361 C>T CBS_c.361C>T protEffect R121C CBS_c.1105C>T commonName 1105 C>T CBS_c.1105C>T protEffect R369C CBS_c.1111G>A commonName 1111 G>A CBS_c.1111G>A protEffect V371M CBS_c.684C>A commonName 684 C>A CBS_c.684C>A protEffect N228K CBS_c.194A>G commonName 194 A>G CBS_c.194A>G protEffect H65R CBS_c.1013T>C commonName 1013 T>C CBS_c.1013T>C protEffect L338P CBS_c.533_550del commonName 533 del 18 CBS_c.533_550del protEffect del aa 179-184 CBS_c.1046G>A commonName 1046 G>A CBS_c.1046G>A protEffect S349N CBS_c.456C>G commonName 456 C>G CBS_c.456C>G protEffect I152M CBS_c.1316G>A commonName 1316 G>A CBS_c.1316G>A protEffect R439Q CBS_c.325T>C commonName 325 T>C CBS_c.325T>C protEffect C109R CBS_c.824G>A commonName 824 G>A CBS_c.824G>A protEffect C275Y CBS_c.442G>A commonName 442 G>A CBS_c.442G>A protEffect G148R CBS_c.463G>A commonName 463 G>A CBS_c.463G>A protEffect A155T CBS_c.694C>G commonName 694 C>G CBS_c.694C>G protEffect H232D CBS_c.1136G>A commonName 1136 G>A CBS_c.1136G>A protEffect R379Q CBS_c.683A>G commonName 683 A>G CBS_c.683A>G protEffect N228S CBS_c.689delT commonName 689delT CBS_c.689delT protEffect L230RfsX39 CBS_g.18827G>T commonName IVS9+1 G>T CBS_g.18827G>T protEffect del ex 9, T318fsX330 CBS_c.1081G>A commonName 1081G>A CBS_c.1081G>A protEffect A361T CBS_c.1106G>A commonName 1106 G>A CBS_c.1106G>A protEffect R369H CBS_c.1060G>A commonName 1060 G>A CBS_c.1060G>A protEffect V354M CBS_c.862_866del5 commonName 862_866del5 CBS_c.862_866del5 protEffect E289GfsX39 CBS_c.1150A>G commonName 1150 A>G CBS_c.1150A>G protEffect K384E CBS_c.1152G>C commonName 1152 G>C CBS_c.1152G>C protEffect K384N CBS_c.715G>A commonName 715 G>A CBS_c.715G>A protEffect E239K CBS_c.700_702delGAC commonName 700_702delGAC CBS_c.700_702delGAC protEffect 234delD CBS_c.691G>C commonName 691 G>C CBS_c.691G>C protEffect A231L CBS_g.15858_15865del commonName IVS5-14_-7del8 CBS_g.15858_15865del protEffect Y223GfsX23 CBS_g.22875G>C commonName IVS12-1 G>C CBS_g.22875G>C protEffect del exon 13 CBS_c.262C>T commonName 262 C>T CBS_c.262C>T protEffect P88S CBS_c.233C>G commonName 233 C>G CBS_c.233C>G protEffect P78R CBS_c.362G>T commonName 362 G>T CBS_c.362G>T protEffect R121L CBS_g.12518G>C commonName IVS1-1G>C CBS_g.12518G>C protEffect 210del26, fs stop at aa 9 CBS_c.1591_1594del commonName 1591del4 CBS_c.1591_1594del protEffect 1591delTTCG, fs CBS_c.502G>A commonName 502 G>A CBS_c.502G>A protEffect V168M CBS_c.518delTGA commonName 518delTGA CBS_c.518delTGA protEffect M173del CBS_c.526G>A commonName 526 G>A CBS_c.526G>A protEffect E176K CBS_g.15521G>A commonName IVS4+1 G>A CBS_g.15521G>A protEffect n.d. CBS_c.1226G>A commonName 1226 G>A CBS_c.1226G>A protEffect W409X CBS_c.28delG commonName 28delG CBS_c.28delG protEffect fs, stop at aa 81 CBS_c.1616T>C commonName 1616 T>C CBS_c.1616T>C protEffect L539S CBS_c.1367T>C commonName 1367 T>C CBS_c.1367T>C protEffect L456P CBS_c.1627_1645del commonName 1627del19 CBS_c.1627_1645del protEffect fs, stop at aa 568 CBS_g.18186G>A commonName IVS8+1G>A CBS_g.18186G>A protEffect del ex 8 CBS_c.429C>G commonName 429 C>G CBS_c.429C>G protEffect I143M CBS_c.1601T>A commonName 1601 T>A CBS_c.1601T>A protEffect V534D CBS_c.1590_1593del commonName 1590del4 CBS_c.1590_1593del protEffect 1590delGTTC, fs CBS_c.1063G>C commonName 1063G>C CBS_c.1063G>C protEffect A355P CBS_c.1576C>A commonName 1576 C>A CBS_c.1576C>A protEffect Q526K CBS_c.1055G>A commonName 1055 G>A CBS_c.1055G>A protEffect S352N CBS_c.1673_1677del commonName 1673del5 CBS_c.1673_1677del protEffect n.d. CBS_c.1471C>T commonName 1471 C>T CBS_c.1471C>T protEffect R491C CBS_c.1082C>T commonName 1082 T>C CBS_c.1082C>T protEffect A361V CBS_c.1221delC commonName 1221delC CBS_c.1221delC protEffect W408fsX423 CBS_g.21942_22040del commonName IVS11+39del99 CBS_g.21942_22040del protEffect n.d. CBS_g.22072_22120del commonName IVS11-89del49 CBS_g.22072_22120del protEffect n.d. CBS_c.1170G>A commonName 1170 G>A CBS_c.1170G>A protEffect W390X CBS_c.1259C>G commonName 1259C>G CBS_c.1259C>G protEffect S420X CBS_c.1265C>T commonName 1265 C>T CBS_c.1265C>T protEffect P422L CBS_c.1146_1223del commonName 1146 del 78 CBS_c.1146_1223del protEffect del ex 11 CBS_g.20700C>T commonName IVS10+7 C>T CBS_g.20700C>T protEffect n.d. CBS_c.1286_1288delTCA commonName 1286_1288delTCA CBS_c.1286_1288delTCA protEffect I429del,fs CBS_g.20694G>A commonName IVS11+1G>A CBS_g.20694G>A protEffect del aa382-407 CBS_c.1301C>A commonName 1301 C>A CBS_c.1301C>A protEffect T434N CBS_c.1304T>C commonName 1304T>C CBS_c.1304T>C protEffect I435T CBS_c.1336G>T commonName 1336 G>T CBS_c.1336G>T protEffect A446S CBS_c.1109G>A commonName 1109 G>A CBS_c.1109G>A protEffect C370Y CBS_c.1126G>A commonName 1126 G>A CBS_c.1126G>A protEffect D376N CBS_c.1397C>T commonName 1397C>T CBS_c.1397C>T protEffect S466L CBS_c.1173G>T commonName 1173 G>T CBS_c.1173G>T protEffect M391I CBS_c.103G>A;129G>A commonName 103G>A; 129G>A CBS_c.103G>A;129G>A protEffect D35N; W43X CBS_c.415G>A commonName 415 G>A CBS_c.415G>A protEffect G139R CBS_c.434C>T commonName 434 C>T CBS_c.434C>T protEffect P145L CBS_c.443G>A commonName 443 G>A CBS_c.443G>A protEffect G148E CBS_c.452_531del commonName 452del 80 CBS_c.452_531del protEffect del ex 4 CBS_c.461T>A commonName 461 T>A CBS_c.461T>A protEffect L154Q CBS_c.464C>T commonName 464C>T CBS_c.464C>T protEffect A155V CBS_c.469G>C commonName 469 G>C CBS_c.469G>C protEffect A157P CBS_c.493_514del commonName 493del22 CBS_c.493_514del protEffect fs,del aa 165-172 CBS_c.503T>C commonName 503 T>C CBS_c.503T>C protEffect V168A CBS_c.393G>C commonName 393 G>C CBS_c.393G>C protEffect E131D CBS_c.384G>C commonName 384 G>C CBS_c.384G>C protEffect E128D CBS_c.153_209del commonName del bp 153-209 CBS_c.153_209del protEffect del aa 52-70 CBS_c.172C>T commonName 172 C>T CBS_c.172C>T protEffect R58W CBS_c.194A>C commonName 194 A>C CBS_c.194A>C protEffect H65R CBS_g.9152_9153ins commonName IVS1+1insC CBS_g.9152_9153ins protEffect del ex 1 (?) CBS_c.260C>A commonName 260 C>A CBS_c.260C>A protEffect T87N CBS_c.306G>C commonName 306 G>C CBS_c.306G>C protEffect K102N CBS_c.313C>G commonName 313 C>G CBS_c.313C>G protEffect 313del4, fs CBS_c.374G>C commonName 374 G>C CBS_c.374G>C protEffect R125P CBS_c.376A>G commonName 376 A>G CBS_c.376A>G protEffect M126V CBS_g.16373_17168del commonName IVS4-38del796 CBS_g.16373_17168del protEffect V178GfsX23 CBS_g.15585_15613del commonName IVS4-31del 29 CBS_g.15585_15613del protEffect del ex 5 CBS_c.796A>G commonName 796A>G CBS_c.796A>G protEffect R266G CBS_c.808_810del commonName 808del3 CBS_c.808_810del protEffect del E270 CBS_g.17239G>A commonName IVS7+1 G>A CBS_g.17239G>A protEffect 828ins104, 737del92 CBS_c.833T>G commonName 833 T>G CBS_c.833T>G protEffect I278S CBS_c.869C>T commonName 869 C>T CBS_c.869C>T protEffect P290L CBS_c.913G>A commonName 913 G>A CBS_c.913G>A protEffect G305R CBS_c.593A>T commonName 593 A>T CBS_c.593A>T protEffect D198V CBS_c.955_1039del commonName 955del85 CBS_c.955_1039del protEffect del ex 9 CBS_c.962A>T commonName 962 A>T CBS_c.962A>T protEffect D321V CBS_c.992C>A commonName 992 C>A CBS_c.992C>A protEffect A331E CBS_c.785C>G commonName 785 C>G CBS_c.785C>G protEffect T262R CBS_c.775G>A commonName 775 G>A CBS_c.775G>A protEffect G259S CBS_c.539T>C commonName 539 T>C CBS_c.539T>C protEffect V180A CBS_c.599C>T commonName 599 C>T CBS_c.599C>T protEffect P200L CBS_c.650C>T commonName 650 C>T CBS_c.650C>T protEffect S217F CBS_c.671G>A commonName 671 G>A CBS_c.671G>A protEffect R224H CBS_c.684C>G commonName 684 C>G CBS_c.684C>G protEffect N228K CBS_c.727C>T commonName 727 C>T CBS_c.727C>T protEffect Q243X CBS_g.17146G>C commonName IVS6-1 G>C CBS_g.17146G>C protEffect n.d. CBS_c.739_768del commonName 739del 30 CBS_c.739_768del protEffect del aa 247-256 CBS_c.740_764del commonName 740del25 CBS_c.740_764del protEffect del aa 247-255 CBS_c.361C>A commonName 361 C>A CBS_c.361C>A protEffect R121S CBS_c.992C>T commonName 992 C>T CBS_c.992C>T protEffect A331V CASRdb_c.2788delC commonName Q930del/fsX938 CASRdb_c.2788delC protEffect Q930del/fsX938 CASRdb_c.2788delC phenoCommon ADH CASRdb_c.1061A>C commonName E354A CASRdb_c.1061A>C protEffect E354A CASRdb_c.1061A>C phenoCommon IE CASRdb_c.1256A>G commonName N419S CASRdb_c.1256A>G protEffect N419S CASRdb_c.1256A>G phenoCommon ADH CASRdb_c.141A>C commonName K47N CASRdb_c.141A>C protEffect K47N CASRdb_c.141A>C phenoCommon ADH CASRdb_c.1666G>A commonName E556K CASRdb_c.1666G>A protEffect E556K CASRdb_c.1666G>A phenoCommon ADH CASRdb_c.1693T>G commonName C565G CASRdb_c.1693T>G protEffect C565G CASRdb_c.1693T>G phenoCommon ADH CASRdb_c.1765T>C commonName F589L CASRdb_c.1765T>C protEffect F589L CASRdb_c.1765T>C phenoCommon ADH CASRdb_c.1810G>A commonName E604K CASRdb_c.1810G>A protEffect E604K CASRdb_c.1810G>A phenoCommon ADH CASRdb_c.1829A>G commonName E610G CASRdb_c.1829A>G protEffect E610G CASRdb_c.1829A>G phenoCommon ADH CASRdb_c.1835T>C commonName F612S CASRdb_c.1835T>C protEffect F612S CASRdb_c.1835T>C phenoCommon ADH CASRdb_c.2043G>T commonName Q681H CASRdb_c.2043G>T protEffect Q681H CASRdb_c.2043G>T phenoCommon ADH CASRdb_c.2056A>G commonName I686V CASRdb_c.2056A>G protEffect I686V CASRdb_c.2056A>G phenoCommon IE CASRdb_c.2180T>A commonName L727Q CASRdb_c.2180T>A protEffect L727Q CASRdb_c.2180T>A phenoCommon ADH CASRdb_c.2299G>A commonName E767K CASRdb_c.2299G>A protEffect E767K CASRdb_c.2299G>A phenoCommon ADH CASRdb_c.2318T>G commonName L773R CASRdb_c.2318T>G protEffect L773R CASRdb_c.2318T>G phenoCommon ADH CASRdb_c.2362T>C commonName F788L CASRdb_c.2362T>C protEffect F788L CASRdb_c.2362T>C phenoCommon ADH CASRdb_c.2363T>G commonName F788C CASRdb_c.2363T>G protEffect F788C CASRdb_c.2363T>G phenoCommon ADH CASRdb_c.2395G>A commonName E799K CASRdb_c.2395G>A protEffect E799K CASRdb_c.2395G>A phenoCommon ADH CASRdb_c.2405A>T commonName N802I CASRdb_c.2405A>T protEffect N802I CASRdb_c.2405A>T phenoCommon ADH CASRdb_c.2417T>C commonName F806S CASRdb_c.2417T>C protEffect F806S CASRdb_c.2417T>C phenoCommon ADH CASRdb_c.2431A>G commonName M811V CASRdb_c.2431A>G protEffect M811V CASRdb_c.2431A>G phenoCommon ADH CASRdb_c.2459C>G commonName S820F CASRdb_c.2459C>G protEffect S820F CASRdb_c.2459C>G phenoCommon ADH CASRdb_c.2461T>C commonName F821L CASRdb_c.2461T>C protEffect F821L CASRdb_c.2461T>C phenoCommon ADH CASRdb_c.2470G>T commonName A824S CASRdb_c.2470G>T protEffect A824S CASRdb_c.2470G>T phenoCommon ADH CASRdb_c.2483C>A commonName T828N CASRdb_c.2483C>A protEffect T828N CASRdb_c.2483C>A phenoCommon ADH CASRdb_c.2488G>A commonName G830S CASRdb_c.2488G>A protEffect G830S CASRdb_c.2488G>A phenoCommon ADH CASRdb_c.2494T>C commonName F832L CASRdb_c.2494T>C protEffect F832L CASRdb_c.2494T>C phenoCommon ADH CASRdb_c.2495T>C commonName F832S CASRdb_c.2495T>C protEffect F832S CASRdb_c.2495T>C phenoCommon ADH CASRdb_c.2503G>A commonName A835T CASRdb_c.2503G>A protEffect A835T CASRdb_c.2503G>A phenoCommon ADH CASRdb_c.2506G>C commonName V836L CASRdb_c.2506G>C protEffect V836L CASRdb_c.2506G>C phenoCommon ADH CASRdb_c.2528C>A commonName A843E CASRdb_c.2528C>A protEffect A843E CASRdb_c.2528C>A phenoCommon ADH CASRdb_c.2530G>A commonName A844T CASRdb_c.2530G>A protEffect A844T CASRdb_c.2530G>A phenoCommon ADH CASRdb_c.2534G>A commonName S845N CASRdb_c.2534G>A protEffect S845N CASRdb_c.2534G>A phenoCommon ADH CASRdb_c.2682_3224del542 commonName S895_V1075del CASRdb_c.2682_3224del542 protEffect S895_V1075del CASRdb_c.2682_3224del542 phenoCommon ADH CASRdb_c.2691_2692insG commonName K897ins/fsX979 CASRdb_c.2691_2692insG protEffect K897ins/fsX979 CASRdb_c.2691_2692insG phenoCommon ADH CASRdb_c.2693G>A commonName R898Q CASRdb_c.2693G>A protEffect R898Q CASRdb_c.2693G>A phenoCommon IE CASRdb_c.2824G>A commonName E942K CASRdb_c.2824G>A protEffect E942K CASRdb_c.2824G>A phenoCommon ADH CASRdb_c.2963C>G commonName A988G CASRdb_c.2963C>G protEffect A988G CASRdb_c.2963C>G phenoCommon IE CASRdb_c.2968A>G commonName R990G CASRdb_c.2968A>G protEffect R990G CASRdb_c.2980C>T commonName H994Y CASRdb_c.2980C>T protEffect H994Y CASRdb_c.2980C>T phenoCommon IH CASRdb_c.346G>A commonName A116T CASRdb_c.346G>A protEffect A116T CASRdb_c.346G>A phenoCommon ADH CASRdb_c.346G>C commonName A116P CASRdb_c.346G>C protEffect A116P CASRdb_c.346G>C phenoCommon ADH CASRdb_c.354C>A commonName N118K CASRdb_c.354C>A protEffect N118K CASRdb_c.354C>A phenoCommon ADH CASRdb_c.354C>G commonName N118K CASRdb_c.354C>G protEffect N118K CASRdb_c.354C>G phenoCommon ADH CASRdb_c.372C>A commonName N124K CASRdb_c.372C>A protEffect N124K CASRdb_c.372C>A phenoCommon ADH CASRdb_c.373C>T commonName L125F CASRdb_c.373C>T protEffect L125F CASRdb_c.373C>T phenoCommon ADH CASRdb_c.374T>C commonName L125P CASRdb_c.374T>C protEffect L125P CASRdb_c.374T>C phenoCommon ADH CASRdb_c.379G>A commonName E127K CASRdb_c.379G>A protEffect E127K CASRdb_c.379G>A phenoCommon ADH CASRdb_c.380A>C commonName E127A CASRdb_c.380A>C protEffect E127A CASRdb_c.380A>C phenoCommon ADH CASRdb_c.380A>G commonName E127G CASRdb_c.380A>G protEffect E127G CASRdb_c.380A>G phenoCommon ADH CASRdb_c.382T>C commonName F128L CASRdb_c.382T>C protEffect F128L CASRdb_c.382T>C phenoCommon ADH CASRdb_c.385T>A commonName C129S CASRdb_c.385T>A protEffect C129S CASRdb_c.385T>A phenoCommon ADH CASRdb_c.385T>C commonName C129R CASRdb_c.385T>C protEffect C129R CASRdb_c.385T>C phenoCommon ADH CASRdb_c.386G>A commonName C129Y CASRdb_c.386G>A protEffect C129Y CASRdb_c.386G>A phenoCommon ADH CASRdb_c.386G>T commonName C129F CASRdb_c.386G>T protEffect C129F CASRdb_c.386G>T phenoCommon ADH CASRdb_c.392G>A commonName C131Y CASRdb_c.392G>A protEffect C131Y CASRdb_c.392G>A phenoCommon ADH CASRdb_c.392G>T commonName C131F CASRdb_c.392G>T protEffect C131F CASRdb_c.392G>T phenoCommon ADH CASRdb_c.393C>G commonName C131W CASRdb_c.393C>G protEffect C131W CASRdb_c.393C>G phenoCommon ADH CASRdb_c.452C>G commonName T151R CASRdb_c.452C>G protEffect T151R CASRdb_c.452C>G phenoCommon ADH CASRdb_c.452C>T commonName T151M CASRdb_c.452C>T protEffect T151M CASRdb_c.452C>T phenoCommon ADH CASRdb_c.571G>A commonName E191K CASRdb_c.571G>A protEffect E191K CASRdb_c.571G>A phenoCommon ADH CASRdb_c.662C>T commonName P221L CASRdb_c.662C>T protEffect P221L CASRdb_c.662C>T phenoCommon ADH CASRdb_c.682G>A commonName E228K CASRdb_c.682G>A protEffect E228K CASRdb_c.682G>A phenoCommon ADH CASRdb_c.682G>C commonName E228Q CASRdb_c.682G>C protEffect E228Q CASRdb_c.682G>C phenoCommon ADH CASRdb_c.721G>A commonName E241K CASRdb_c.721G>A protEffect E241K CASRdb_c.721G>A phenoCommon ADH CASRdb_c.734A>G commonName Q245R CASRdb_c.734A>G protEffect Q245R CASRdb_c.734A>G phenoCommon ADH CASRdb_c.85A>G commonName K29E CASRdb_c.85A>G protEffect K29E CASRdb_c.85A>G phenoCommon ADH CASRdb_c.891G>C commonName E297D CASRdb_c.891G>C protEffect E297D CASRdb_c.891G>C phenoCommon ADH CASRdb_c1846C>G commonName L616V CASRdb_c1846C>G protEffect L616V CASRdb_c1846C>G phenoCommon ADH/Poly? CASRdb_c.653A>G commonName Y218C CASRdb_c.653A>G protEffect Y218C CASRdb_c.653A>G phenoCommon FHH CASRdb_c.1006_1008delAAG commonName K335_V337del CASRdb_c.1006_1008delAAG protEffect K335_V337del CASRdb_c.1006_1008delAAG phenoCommon FIHP CASRdb_c.1015C>A commonName P339T CASRdb_c.1015C>A protEffect P339T CASRdb_c.1015C>A phenoCommon FHH CASRdb_c.1031_1034delinsT commonName (H344-N345)L CASRdb_c.1031_1034delinsT protEffect (H344-N345)L CASRdb_c.1031_1034delinsT phenoCommon NSHPT CASRdb_c.1051T>G commonName F351V CASRdb_c.1051T>G protEffect F351V CASRdb_c.1051T>G phenoCommon FHH CASRdb_c.1056G>A commonName W352X CASRdb_c.1056G>A protEffect W352X CASRdb_c.1056G>A phenoCommon FHH CASRdb_c.115C>G commonName P39A CASRdb_c.115C>G protEffect P39A CASRdb_c.115C>G phenoCommon FHH/NSHPT CASRdb_c.1174C>T commonName R392X CASRdb_c.1174C>T protEffect R392X CASRdb_c.1174C>T phenoCommon NSHPT CASRdb_c.1183T>C commonName C395R CASRdb_c.1183T>C protEffect C395R CASRdb_c.1183T>C phenoCommon FHH CASRdb_c.1189G>A commonName G397R CASRdb_c.1189G>A protEffect G397R CASRdb_c.1189G>A phenoCommon FHH CASRdb_c.125T>G commonName F42S CASRdb_c.125T>G protEffect F42S CASRdb_c.125T>G phenoCommon FHH CASRdb_c.1280T>G commonName I427S CASRdb_c.1280T>G protEffect I427S CASRdb_c.1280T>G phenoCommon TCP CASRdb_c.1297G>C commonName D433H CASRdb_c.1297G>C protEffect D433H CASRdb_c.1297G>C phenoCommon TCP CASRdb_c.1333A>G commonName T445A CASRdb_c.1333A>G protEffect T445A CASRdb_c.1378-19A>C commonName -19A>C CASRdb_c.1378-19A>C protEffect -19A>C CASRdb_c.1378-19A>C phenoCommon FHH CASRdb_c.1393C>T commonName R465W CASRdb_c.1393C>T protEffect R465W CASRdb_c.1393C>T phenoCommon FHH CASRdb_c.1394G>A commonName R465Q CASRdb_c.1394G>A protEffect R465Q CASRdb_c.1394G>A phenoCommon FHH CASRdb_c.1430T>C commonName V477A CASRdb_c.1430T>C protEffect V477A CASRdb_c.1430T>C phenoCommon TCP CASRdb_c.1525G>A commonName G509R CASRdb_c.1525G>A protEffect G509R CASRdb_c.1525G>A phenoCommon FHH CASRdb_c.157T>C commonName S53P CASRdb_c.157T>C protEffect S53P CASRdb_c.157T>C phenoCommon FHH CASRdb_c.1588T>G commonName W530G CASRdb_c.1588T>G protEffect W530G CASRdb_c.1588T>G phenoCommon FHH CASRdb_c.1645G>A commonName G549R CASRdb_c.1645G>A protEffect G549R CASRdb_c.1645G>A phenoCommon FHH CASRdb_c.164C>T commonName P55L CASRdb_c.164C>T protEffect P55L CASRdb_c.164C>T phenoCommon FHH CASRdb_c.1652G>A commonName R551K CASRdb_c.1652G>A protEffect R551K CASRdb_c.1652G>A phenoCommon NSHPT CASRdb_c.1657G>A commonName G553R CASRdb_c.1657G>A protEffect G553R CASRdb_c.1657G>A phenoCommon FHH CASRdb_c.1663A>G commonName I555V CASRdb_c.1663A>G protEffect I555V CASRdb_c.1663A>G phenoCommon FHH CASRdb_c.1670G>A commonName G557E CASRdb_c.1670G>A protEffect G557E CASRdb_c.1670G>A phenoCommon FHH CASRdb_c.1685G>A commonName C562Y CASRdb_c.1685G>A protEffect C562Y CASRdb_c.1685G>A phenoCommon FHH CASRdb_c.1703G>A commonName C568Y CASRdb_c.1703G>A protEffect C568Y CASRdb_c.1703G>A phenoCommon FHH CASRdb_c.1719T>A commonName Y573X CASRdb_c.1719T>A protEffect Y573X CASRdb_c.1719T>A phenoCommon FHH CASRdb_c.1745G>A commonName C582Y CASRdb_c.1745G>A protEffect C582Y CASRdb_c.1745G>A phenoCommon FHH CASRdb_c.1745G>T commonName C582F CASRdb_c.1745G>T protEffect C582F CASRdb_c.1745G>T phenoCommon FHH CASRdb_c.1746_1747insT commonName N583X CASRdb_c.1746_1747insT protEffect N583X CASRdb_c.1746_1747insT phenoCommon FHH CASRdb_c.1772C>G commonName S591C CASRdb_c.1772C>G protEffect S591C CASRdb_c.1772C>G phenoCommon NSHPT CASRdb_c.1783C>T commonName H595Y CASRdb_c.1783C>T protEffect H595Y CASRdb_c.1783C>T phenoCommon FHH CASRdb_c.179G>T commonName C60F CASRdb_c.179G>T protEffect C60F CASRdb_c.179G>T phenoCommon NSHPT CASRdb_c.1820C>A commonName S607X CASRdb_c.1820C>A protEffect S607X CASRdb_c.1820C>A phenoCommon FHH CASRdb_c.185G>T commonName R62M CASRdb_c.185G>T protEffect R62M CASRdb_c.185G>T phenoCommon FHH/NSHPT CASRdb_c.1868G>A commonName G623D CASRdb_c.1868G>A protEffect G623D CASRdb_c.1868G>A phenoCommon FHH CASRdb_c.1913G>T commonName R638L CASRdb_c.1913G>T protEffect R638L CASRdb_c.1913G>T phenoCommon FHH/NSHPT CASRdb_c.1942C>T commonName R648X CASRdb_c.1942C>T protEffect R648X CASRdb_c.1942C>T phenoCommon FHH CASRdb_c.1949T>C commonName L650P CASRdb_c.1949T>C protEffect L650P CASRdb_c.1949T>C phenoCommon FIHP CASRdb_c.196C>T commonName R66C CASRdb_c.196C>T protEffect R66C CASRdb_c.196C>T phenoCommon FHH/NSHPT CASRdb_c.1970C>A commonName S657Y CASRdb_c.1970C>A protEffect S657Y CASRdb_c.1970C>A phenoCommon FHH CASRdb_c.197G>A commonName R66H CASRdb_c.197G>A protEffect R66H CASRdb_c.197G>A phenoCommon NSHPT CASRdb_c.1982G>A commonName C661Y CASRdb_c.1982G>A protEffect C661Y CASRdb_c.1982G>A phenoCommon FHH CASRdb_c.1997T>C commonName L666P CASRdb_c.1997T>C protEffect L666P CASRdb_c.1997T>C phenoCommon FHH CASRdb_c.1997_1998insT commonName L666ins/fsX707 CASRdb_c.1997_1998insT protEffect L666ins/fsX707 CASRdb_c.1997_1998insT phenoCommon FHH CASRdb_c.19_20insT commonName C7ins/fsX47 CASRdb_c.19_20insT protEffect C7ins/fsX47 CASRdb_c.19_20insT phenoCommon FHH CASRdb_c.2008G>A commonName G670R CASRdb_c.2008G>A protEffect G670R CASRdb_c.2008G>A phenoCommon FHH CASRdb_c.2009G>A commonName G670E CASRdb_c.2009G>A protEffect G670E CASRdb_c.2009G>A phenoCommon FHH/NSHPT CASRdb_c.2038C>T commonName R680C CASRdb_c.2038C>T protEffect R680C CASRdb_c.2038C>T phenoCommon FHH CASRdb_c.2039G>A commonName R680H CASRdb_c.2039G>A protEffect R680H CASRdb_c.2039G>A phenoCommon FHH CASRdb_c.2065G>A commonName V689M CASRdb_c.2065G>A protEffect V689M CASRdb_c.2065G>A phenoCommon FIHP CASRdb_c.206G>A commonName R69H CASRdb_c.206G>A protEffect R69H CASRdb_c.206G>A phenoCommon FHH CASRdb_c.2154G>A commonName W718X CASRdb_c.2154G>A protEffect W718X CASRdb_c.2154G>A phenoCommon FHH CASRdb_c.2182G>A commonName V728I CASRdb_c.2182G>A protEffect V728I CASRdb_c.2182G>A phenoCommon FHH CASRdb_c.2201T>G commonName M734R CASRdb_c.2201T>G protEffect M734R CASRdb_c.2201T>G phenoCommon FHH CASRdb_c.2224T>C commonName W742R CASRdb_c.2224T>C protEffect W742R CASRdb_c.2224T>C phenoCommon FHH CASRdb_c.2240_2241delCCinsT commonName P747ins/fsX776 CASRdb_c.2240_2241delCCinsT protEffect P747ins/fsX776 CASRdb_c.2240_2241delCCinsT phenoCommon NSHPT CASRdb_c.2243C>A commonName P748H CASRdb_c.2243C>A protEffect P748H CASRdb_c.2243C>A phenoCommon FHH CASRdb_c.2243C>G commonName P748R CASRdb_c.2243C>G protEffect P748R CASRdb_c.2243C>G phenoCommon FHH CASRdb_c.2243C>T commonName P748L CASRdb_c.2243C>T protEffect P748L CASRdb_c.2243C>T phenoCommon FHH CASRdb_c.2265G>T commonName E755D CASRdb_c.2265G>T protEffect E755D CASRdb_c.2281_2283delATC commonName I761del CASRdb_c.2281_2283delATC protEffect I761del CASRdb_c.2281_2283delATC phenoCommon FHH CASRdb_c.2295C>G commonName C765W CASRdb_c.2295C>G protEffect C765W CASRdb_c.2295C>G phenoCommon FHH CASRdb_c.2333G>A commonName G778D CASRdb_c.2333G>A protEffect G778D CASRdb_c.2333G>A phenoCommon FHH CASRdb_c.2383C>T commonName R795W CASRdb_c.2383C>T protEffect R795W CASRdb_c.2383C>T phenoCommon FHH CASRdb_c.2383delC commonName R795Gdel/fsX836 CASRdb_c.2383delC protEffect R795Gdel/fsX836 CASRdb_c.2383delC phenoCommon FHH CASRdb_c.2392C>A commonName P798T CASRdb_c.2392C>A protEffect P798T CASRdb_c.2392C>A phenoCommon FHH CASRdb_c.2411C>A commonName A804D CASRdb_c.2411C>A protEffect A804D CASRdb_c.2411C>A phenoCommon FHH/NSHPT CASRdb_c.2427C>G commonName F809L CASRdb_c.2427C>G protEffect F809L CASRdb_c.2427C>G phenoCommon FHH CASRdb_c.243A>G commonName I81M CASRdb_c.243A>G protEffect I81M CASRdb_c.243A>G phenoCommon FHH CASRdb_c.2449G>A commonName V817I CASRdb_c.2449G>A protEffect V817I CASRdb_c.2449G>A phenoCommon FHH CASRdb_c.2476G>A commonName A826T CASRdb_c.2476G>A protEffect A826T CASRdb_c.2495T>G commonName F832S CASRdb_c.2495T>G protEffect F832S CASRdb_c.2495T>G phenoCommon FHH CASRdb_c.2501delC commonName S834del/fsX836 CASRdb_c.2501delC protEffect S834del/fsX836 CASRdb_c.2501delC phenoCommon FHH CASRdb_c.2546T>C commonName L849P CASRdb_c.2546T>C protEffect L849P CASRdb_c.2546T>C phenoCommon FHH CASRdb_c.2550_2551insCCAG commonName A850ins/fsX981 CASRdb_c.2550_2551insCCAG protEffect A850ins/fsX981 CASRdb_c.2550_2551insCCAG phenoCommon FHH CASRdb_c.2551T>A commonName C851S CASRdb_c.2551T>A protEffect C851S CASRdb_c.2627_2628insAlu commonName T876 Alu ins CASRdb_c.2627_2628insAlu protEffect T876 Alu ins CASRdb_c.2627_2628insAlu phenoCommon FHH/NSHPT CASRdb_c.2641T>C commonName F881L CASRdb_c.2641T>C protEffect F881L CASRdb_c.2641T>C phenoCommon FHH CASRdb_c.2656C>T commonName R886W CASRdb_c.2656C>T protEffect R886W CASRdb_c.2656C>T phenoCommon FHH CASRdb_c.2657G>C commonName R886P CASRdb_c.2657G>C protEffect R886P CASRdb_c.2657G>C phenoCommon FIHP CASRdb_c.2687G>A commonName R896H CASRdb_c.2687G>A protEffect R896H CASRdb_c.2687G>A phenoCommon FHH CASRdb_c.2777A>G commonName Q926R CASRdb_c.2777A>G protEffect Q926R CASRdb_c.2777A>G phenoCommon FHH CASRdb_c.280G>C commonName G94R CASRdb_c.280G>C protEffect G94R CASRdb_c.280G>C phenoCommon FHH CASRdb_c.280G>T commonName G94X CASRdb_c.280G>T protEffect G94X CASRdb_c.280G>T phenoCommon NSHPT CASRdb_c.2956G>T commonName A986S CASRdb_c.2956G>T protEffect A986S CASRdb_c.299C>T commonName T100I CASRdb_c.299C>T protEffect T100I CASRdb_c.299C>T phenoCommon FIHP CASRdb_c.2T>G commonName M1R CASRdb_c.2T>G protEffect M1R CASRdb_c.2T>G phenoCommon FHH/NSHPT CASRdb_c.3013G>A commonName D1005N CASRdb_c.3013G>A protEffect D1005N CASRdb_c.3013G>A phenoCommon FHH CASRdb_c.3031C>G commonName Q1011E CASRdb_c.3031C>G protEffect Q1011E CASRdb_c.3235T>C commonName X1079QextX1087 CASRdb_c.3235T>C protEffect X1079QextX1087 CASRdb_c.3235T>C phenoCommon FHH CASRdb_c.32T>C commonName L11S CASRdb_c.32T>C protEffect L11S CASRdb_c.32T>C phenoCommon FHH CASRdb_c.38T>C commonName L13P CASRdb_c.38T>C protEffect L13P CASRdb_c.38T>C phenoCommon FHH CASRdb_c.409T>C commonName S137P CASRdb_c.409T>C protEffect S137P CASRdb_c.409T>C phenoCommon FHH CASRdb_c.40A>G commonName T14A CASRdb_c.40A>G protEffect T14A CASRdb_c.413C>T commonName T138M CASRdb_c.413C>T protEffect T138M CASRdb_c.413C>T phenoCommon FHH CASRdb_c.427G>C commonName G143R CASRdb_c.427G>C protEffect G143R CASRdb_c.427G>C phenoCommon FHH CASRdb_c.428G>A commonName G143E CASRdb_c.428G>A protEffect G143E CASRdb_c.428G>A phenoCommon FHH CASRdb_c.472G>C commonName G158R CASRdb_c.472G>C protEffect G158R CASRdb_c.472G>C phenoCommon FHH CASRdb_c.476T>C commonName L159P CASRdb_c.476T>C protEffect L159P CASRdb_c.476T>C phenoCommon FIHP CASRdb_c.482A>G commonName Y161C CASRdb_c.482A>G protEffect Y161C CASRdb_c.482A>G phenoCommon NSHPT CASRdb_c.488C>G commonName P163R CASRdb_c.488C>G protEffect P163R CASRdb_c.488C>G phenoCommon TCP CASRdb_c.490C>T commonName Q164X CASRdb_c.490C>T protEffect Q164X CASRdb_c.490C>T phenoCommon NSHPT CASRdb_c.492+1G>C commonName +1g>c CASRdb_c.492+1G>C protEffect +1g>c CASRdb_c.492+1G>C phenoCommon FHH CASRdb_c.493-1G>T commonName -1g>t CASRdb_c.493-1G>T protEffect -1g>t CASRdb_c.493-1G>T phenoCommon FHH/NSHPT CASRdb_c.496A>G commonName S166G CASRdb_c.496A>G protEffect S166G CASRdb_c.496A>G phenoCommon FHH CASRdb_c.512G>A commonName S171N CASRdb_c.512G>A protEffect S171N CASRdb_c.512G>A phenoCommon FHH CASRdb_c.514A>G commonName R172G CASRdb_c.514A>G protEffect R172G CASRdb_c.514A>G phenoCommon FHH CASRdb_c.518T>C commonName L173P CASRdb_c.518T>C protEffect L173P CASRdb_c.518T>C phenoCommon FHH CASRdb_c.521T>G commonName L174R CASRdb_c.521T>G protEffect L174R CASRdb_c.521T>G phenoCommon FHH CASRdb_c.532A>G commonName N178D CASRdb_c.532A>G protEffect N178D CASRdb_c.532A>G phenoCommon FHH CASRdb_c.539T>G commonName F180C CASRdb_c.539T>G protEffect F180C CASRdb_c.539T>G phenoCommon FHH CASRdb_c.553C>T commonName R185X CASRdb_c.553C>T protEffect R185X CASRdb_c.553C>T phenoCommon FHH/NSHPT CASRdb_c.554G>A commonName R185Q CASRdb_c.554G>A protEffect R185Q CASRdb_c.554G>A phenoCommon FHH CASRdb_c.570delT commonName D190EfsX154 CASRdb_c.570delT protEffect D190EfsX154 CASRdb_c.570delT phenoCommon NSHPT CASRdb_c.580G>A commonName A194T CASRdb_c.580G>A protEffect A194T CASRdb_c.580G>A phenoCommon FHH CASRdb_c.60C>T commonName Y20H CASRdb_c.60C>T protEffect Y20H CASRdb_c.61G>C commonName G21R CASRdb_c.61G>C protEffect G21R CASRdb_c.61G>C phenoCommon FHH CASRdb_c.623G>C commonName W208S CASRdb_c.623G>C protEffect W208S CASRdb_c.623G>C phenoCommon FHH CASRdb_c.635T>C commonName I212T CASRdb_c.635T>C protEffect I212T CASRdb_c.635T>C phenoCommon FHH CASRdb_c.635T>G commonName I212S CASRdb_c.635T>G protEffect I212S CASRdb_c.635T>G phenoCommon NSHPT CASRdb_c.644A>G commonName D215G CASRdb_c.644A>G protEffect D215G CASRdb_c.644A>G phenoCommon FHH CASRdb_c.653A>C commonName Y218S CASRdb_c.653A>C protEffect Y218S CASRdb_c.653A>C phenoCommon FHH CASRdb_c.658C>T commonName R220W CASRdb_c.658C>T protEffect R220W CASRdb_c.658C>T phenoCommon FHH CASRdb_c.659G>A commonName R220Q CASRdb_c.659G>A protEffect R220Q CASRdb_c.659G>A phenoCommon FHH CASRdb_c.659G>C commonName R220P CASRdb_c.659G>C protEffect R220P CASRdb_c.659G>C phenoCommon FHH CASRdb_c.661C>T commonName P221S CASRdb_c.661C>T protEffect P221S CASRdb_c.661C>T phenoCommon FHH CASRdb_c.662C>A commonName P221Q CASRdb_c.662C>A protEffect P221Q CASRdb_c.662C>A phenoCommon FHH CASRdb_c.674A>C commonName K225T CASRdb_c.674A>C protEffect K225T CASRdb_c.674A>C phenoCommon FHH CASRdb_c.680G>A commonName R227Q CASRdb_c.680G>A protEffect R227Q CASRdb_c.680G>A phenoCommon FHH CASRdb_c.680G>T commonName R227L CASRdb_c.680G>T protEffect R227L CASRdb_c.680G>T phenoCommon NSHPT CASRdb_c.73C>T commonName R25X CASRdb_c.73C>T protEffect R25X CASRdb_c.73C>T phenoCommon FHH CASRdb_c.748G>A commonName E250K CASRdb_c.748G>A protEffect E250K CASRdb_c.748G>A phenoCommon FHH CASRdb_c.801_812del11 commonName V268del/fsX273 CASRdb_c.801_812del11 protEffect V268del/fsX273 CASRdb_c.801_812del11 phenoCommon FIHP CASRdb_c.80A>G commonName Q27R CASRdb_c.80A>G protEffect Q27R CASRdb_c.80A>G phenoCommon NSHPT CASRdb_c.812C>T commonName S271F CASRdb_c.812C>T protEffect S271F CASRdb_c.812C>T phenoCommon FHH CASRdb_c.820C>T commonName P274S CASRdb_c.820C>T protEffect P274S CASRdb_c.848T>C commonName I283T CASRdb_c.848T>C protEffect I283T CASRdb_c.848T>C phenoCommon PHPT CASRdb_c.853C>T commonName R285W CASRdb_c.853C>T protEffect R285W CASRdb_c.883G>A commonName A295T CASRdb_c.883G>A protEffect A295T CASRdb_c.883G>A phenoCommon FHH CASRdb_c.887G>A commonName S296N CASRdb_c.887G>A protEffect S296N CASRdb_c.887G>A phenoCommon FHH CASRdb_c.889G>A commonName E297K CASRdb_c.889G>A protEffect E297K CASRdb_c.889G>A phenoCommon FHH CASRdb_c.961G>C commonName A321P CASRdb_c.961G>C protEffect A321P CASRdb_c.961G>C phenoCommon FHH CASRdb_c.967A>T commonName K323X CASRdb_c.967A>T protEffect K323X CASRdb_c.967A>T phenoCommon FHH HIFD_KRT10:c.467G>A commonName c.467G>A HIFD_KRT10:c.467G>A protEffect p.Arg156His HIFD_KRT10:c.467G>A phenoCommon BCIE/EHK HIFD_KRT10:c.482T>C commonName c.482T>C HIFD_KRT10:c.482T>C protEffect p.Leu161Ser HIFD_KRT10:c.482T>C phenoCommon BCIE/EHK HIFD_KRT10:c.467G>C commonName c.467G>C HIFD_KRT10:c.467G>C protEffect p.Arg156Pro HIFD_KRT10:c.467G>C phenoCommon BCIE/EHK HIFD_KRT10:c.466C>A commonName c.466C>A HIFD_KRT10:c.466C>A protEffect p.Arg156Ser HIFD_KRT10:c.466C>A phenoCommon BCIE/EHK HIFD_KRT10:c.466C>T commonName c.466C>T HIFD_KRT10:c.466C>T protEffect p.Arg156Cys HIFD_KRT10:c.466C>T phenoCommon BCIE/EHK HIFD_KRT10:c.460A>C commonName c.460A>C HIFD_KRT10:c.460A>C protEffect p.Asn154His HIFD_KRT10:c.460A>C phenoCommon BCIE/EHK HIFD_KRT10:c.478T>G commonName c.478T>G HIFD_KRT10:c.478T>G protEffect p.Tyr160Asp HIFD_KRT10:c.478T>G phenoCommon BCIE/EHK HIFD_KRT10:c.1325T>A commonName c.1325T>A HIFD_KRT10:c.1325T>A protEffect p.Leu442Gln HIFD_KRT10:c.1325T>A phenoCommon BCIE/EHK HIFD_KRT10:c.467G>T commonName c.467G>T HIFD_KRT10:c.467G>T protEffect p.Arg156Leu HIFD_KRT10:c.467G>T phenoCommon BCIE/EHK HIFD_KRT10:c.449T>G commonName c.449T>G HIFD_KRT10:c.449T>G protEffect p.Met150Arg HIFD_KRT10:c.449T>G phenoCommon BCIE/EHK HIFD_KRT10:c.1315A>G commonName c.1315A>G HIFD_KRT10:c.1315A>G protEffect p.Lys439Glu HIFD_KRT10:c.1315A>G phenoCommon BCIE/EHK HIFD_KRT10:c.449T>C commonName c.449T>C HIFD_KRT10:c.449T>C protEffect p.Met150Thr HIFD_KRT10:c.449T>C phenoCommon BCIE/EHK HIFD_KRT10:c.1264_1265delCGinsGA commonName c.1264_1265delCGinsGA HIFD_KRT10:c.1264_1265delCGinsGA protEffect p.Arg422Glu HIFD_KRT10:c.1264_1265delCGinsGA phenoCommon CIEH HIFD_KRT10:c.472G>C commonName c.472G>C HIFD_KRT10:c.472G>C protEffect p.Ala158Pro HIFD_KRT10:c.472G>C phenoCommon BCIE/EHK HIFD_KRT10:c.1337T>C commonName c.1337T>C HIFD_KRT10:c.1337T>C protEffect p.Ile446Thr HIFD_KRT10:c.1337T>C phenoCommon CIEH HIFD_KRT10:c.479A>C commonName c.479A>C HIFD_KRT10:c.479A>C protEffect p.Tyr160Ser HIFD_KRT10:c.479A>C phenoCommon BCIE/EHK HIFD_KRT10:c.1355T>C commonName c.1355T>C HIFD_KRT10:c.1355T>C protEffect p.Leu452Pro HIFD_KRT10:c.1355T>C phenoCommon BCIE/EHK HIFD_KRT10:c.465_466delCCinsAA commonName c.465_466delCCinsAA HIFD_KRT10:c.465_466delCCinsAA protEffect p.Asp155_Arg156delinsGluSer HIFD_KRT10:c.465_466delCCinsAA phenoCommon BCIE/EHK HIFD_KRT10:c.457C>G commonName c.457C>G HIFD_KRT10:c.457C>G protEffect p.Leu153Val HIFD_KRT10:c.457C>G phenoCommon BCIE/EHK HIFD_KRT10:c.466C>G commonName c.466C>G HIFD_KRT10:c.466C>G protEffect p.Arg156Gly HIFD_KRT10:c.466C>G phenoCommon BCIE/EHK HIFD_KRT10:c.1358T>C commonName c.1358T>C HIFD_KRT10:c.1358T>C protEffect p.Leu453Pro HIFD_KRT10:c.1358T>C phenoCommon BCIE/EHK HIFD_KRT10:c.481_486delTTGGAC commonName c.481_486delTTGGAC HIFD_KRT10:c.481_486delTTGGAC protEffect p.Leu161_Asp162del HIFD_KRT10:c.481_486delTTGGAC phenoCommon BCIE/EHK HIFD_KRT10:c.1300C>T commonName c.1300C>T HIFD_KRT10:c.1300C>T protEffect p.Gln434X HIFD_KRT10:c.1300C>T phenoCommon BCIE/EHK HIFD_KRT10:c.466C>T phenoCommon EPPK HIFD_KRT10:c.1281_1282delCCinsAA commonName c.1281_1282delCCinsAA HIFD_KRT10:c.1281_1282delCCinsAA protEffect p.Cys427X HIFD_KRT10:c.1281_1282delCCinsAA phenoCommon BCIE/EHK HIFD_KRT10:c.1340A>C commonName c.1340A>C HIFD_KRT10:c.1340A>C protEffect p.Gln447Pro HIFD_KRT10:c.1340A>C phenoCommon BCIE/EHK HIFD_KRT10:c.1314_1315insC commonName c.1314_1315insC HIFD_KRT10:c.1314_1315insC protEffect p.Lys439GlnfsX6 HIFD_KRT10:c.1314_1315insC phenoCommon BCIE/EHK HIFD_KRT10:c.1333G>A commonName c.1333G>A HIFD_KRT10:c.1333G>A protEffect p.Glu445Lys HIFD_KRT10:c.1333G>A phenoCommon BCIE/EHK HIFD_KRT10:c.1155+5G>A commonName c.1155+5G>A HIFD_KRT10:c.1155+5G>A protEffect p.= HIFD_KRT10:c.1155+5G>A phenoCommon BCIE/EHK HIFD_KRT10:c.1450_1451insC commonName c.1450_1451insC HIFD_KRT10:c.1450_1451insC protEffect p.Gly484ArgfsX97 HIFD_KRT10:c.1450_1451insC phenoCommon CRIE HIFD_KRT10:c.449T>C phenoCommon CIEH HIFD_KRT10:c.449T>G phenoCommon CIEH HIFD_KRT10:c.466C>T phenoCommon CIEH HIFD_KRT10:c.467G>A phenoCommon CIEH HIFD_KRT10:c.1300C>T phenoCommon CIEH HIFD_KRT10:c.1314_1315insC phenoCommon CIEH HIFD_KRT10:c.1346A>G commonName c.1346A>G HIFD_KRT10:c.1346A>G protEffect p.Tyr449Cys HIFD_KRT10:c.1346A>G phenoCommon CIEH HIFD_KRT10:c.1560_1561delCG commonName c.1560_1561delCG HIFD_KRT10:c.1560_1561delCG protEffect p.Gly521ProfsX59 HIFD_KRT10:c.1560_1561delCG phenoCommon CRIE HIFD_KRT10:c.376G>A commonName c.376G>A HIFD_KRT10:c.376G>A protEffect p.Gly126Ser HIFD_KRT10:c.376G>A phenoCommon CRIE HIFD_KRT10:c.1459C>T commonName c.1459C>T HIFD_KRT10:c.1459C>T protEffect p.His487Tyr HIFD_KRT10:c.1459C>T phenoCommon CRIE HIFD_complex_1 commonName c.[1468_1479delGGCCACGGCGGC; 1546_1551delGGAAGCinsT] HIFD_complex_1 protEffect p.[Gly490_Gly493del; Gly516SerfsX63] HIFD_complex_1 phenoCommon CRIE HIFD_KRT12:c.427G>C commonName c.427G>C HIFD_KRT12:c.427G>C protEffect p.Val143Leu HIFD_KRT12:c.427G>C phenoCommon MCD HIFD_KRT12:c.404G>C commonName c.404G>C HIFD_KRT12:c.404G>C protEffect p.Arg135Thr HIFD_KRT12:c.404G>C phenoCommon MCD HIFD_KRT12:c.403A>G commonName c.403A>G HIFD_KRT12:c.403A>G protEffect p.Arg135Gly HIFD_KRT12:c.403A>G phenoCommon MCD HIFD_KRT12:c.404G>T commonName c.404G>T HIFD_KRT12:c.404G>T protEffect p.Arg135Ile HIFD_KRT12:c.404G>T phenoCommon MCD HIFD_KRT12:c.419T>G commonName c.419T>G HIFD_KRT12:c.419T>G protEffect p.Leu140Arg HIFD_KRT12:c.419T>G phenoCommon MCD HIFD_KRT12:c.1285T>G commonName c.1285T>G HIFD_KRT12:c.1285T>G protEffect p.Tyr429Asp HIFD_KRT12:c.1285T>G phenoCommon MCD HIFD_KRT12:c.1276A>G commonName c.1276A>G HIFD_KRT12:c.1276A>G protEffect p.Ile426Val HIFD_KRT12:c.1276A>G phenoCommon MCD HIFD_KRT12:c.386T>C commonName c.386T>C HIFD_KRT12:c.386T>C protEffect p.Met129Thr HIFD_KRT12:c.386T>C phenoCommon MCD HIFD_KRT12:c.389A>C commonName c.389A>C HIFD_KRT12:c.389A>C protEffect p.Gln130Pro HIFD_KRT12:c.389A>C phenoCommon MCD HIFD_KRT12:c.399T>G commonName c.399T>G HIFD_KRT12:c.399T>G protEffect p.Asn133Lys HIFD_KRT12:c.399T>G phenoCommon MCD HIFD_KRT12:c.409G>C commonName c.409G>C HIFD_KRT12:c.409G>C protEffect p.Ala137Pro HIFD_KRT12:c.409G>C phenoCommon MCD HIFD_KRT12:c.405A>C commonName c.405A>C HIFD_KRT12:c.405A>C protEffect p.Arg135Ser HIFD_KRT12:c.405A>C phenoCommon MCD HIFD_KRT12:c.1197_1198ins27 commonName c.1197_1198insATCAGCAACCTGGAGGCACAGCTGCTC HIFD_KRT12:c.1197_1198ins27 protEffect p.Leu399_Gln400ins9 HIFD_KRT12:c.1197_1198ins27 phenoCommon MCD HIFD_KRT12:c.1286A>G commonName c.1286A>G HIFD_KRT12:c.1286A>G protEffect p.Tyr429Cys HIFD_KRT12:c.1286A>G phenoCommon MCD HIFD_KRT12:c.1277T>G commonName c.1277T>G HIFD_KRT12:c.1277T>G protEffect p.Ile426Ser HIFD_KRT12:c.1277T>G phenoCommon MCD HIFD_KRT12:c.1289G>C commonName c.1289G>C HIFD_KRT12:c.1289G>C protEffect p.Arg430Pro HIFD_KRT12:c.1289G>C phenoCommon MCD HIFD_KRT12:c.427G>T commonName c.427G>T HIFD_KRT12:c.427G>T protEffect p.Val143Leu HIFD_KRT12:c.427G>T phenoCommon MCD HIFD_KRT12:c.1298T>G commonName c.1298T>G HIFD_KRT12:c.1298T>G protEffect p.Leu433Arg HIFD_KRT12:c.1298T>G phenoCommon MCD HIFD_KRT12:c.385A>G commonName c.385A>G HIFD_KRT12:c.385A>G protEffect p.Met129Val HIFD_KRT12:c.385A>G phenoCommon MCD HIFD_KRT13:c.356T>C commonName c.356T>C HIFD_KRT13:c.356T>C protEffect p.Leu119Pro HIFD_KRT13:c.356T>C phenoCommon WSN HIFD_KRT13:c.344T>C commonName c.344T>C HIFD_KRT13:c.344T>C protEffect p.Leu115Pro HIFD_KRT13:c.344T>C phenoCommon WSN HIFD_KRT13:c.323T>C commonName c.323T>C HIFD_KRT13:c.323T>C protEffect p.Met108Thr HIFD_KRT13:c.323T>C phenoCommon WSN HIFD_KRT13:c.335A>G commonName c.335A>G HIFD_KRT13:c.335A>G protEffect p.Asn112Ser HIFD_KRT13:c.335A>G phenoCommon WSN HIFD_KRT13:c.332T>C commonName c.332T>C HIFD_KRT13:c.332T>C protEffect p.Leu111Pro HIFD_KRT13:c.332T>C phenoCommon WSN HIFD_KRT13:c.341G>A commonName c.341G>A HIFD_KRT13:c.341G>A protEffect p.Arg114His HIFD_KRT13:c.341G>A phenoCommon WSN HIFD_KRT14:c.1151T>C commonName c.1151T>C HIFD_KRT14:c.1151T>C protEffect p.Leu384Pro HIFD_KRT14:c.1151T>C phenoCommon EBS-K HIFD_KRT14:c.373C>T commonName c.373C>T HIFD_KRT14:c.373C>T protEffect p.Arg125Cys HIFD_KRT14:c.373C>T phenoCommon EBS-DM HIFD_KRT14:c.374G>A commonName c.374G>A HIFD_KRT14:c.374G>A protEffect p.Arg125His HIFD_KRT14:c.374G>A phenoCommon EBS-DM HIFD_KRT14:c.808G>A commonName c.808G>A HIFD_KRT14:c.808G>A protEffect p.Val270Met HIFD_KRT14:c.808G>A phenoCommon EBS-WC HIFD_KRT14:c.1123_1125delGAG commonName c.1123_1125delGAG HIFD_KRT14:c.1123_1125delGAG protEffect p.Glu375del HIFD_KRT14:c.1123_1125delGAG phenoCommon EBS-WC HIFD_KRT14:c.313_314delGC commonName c.313_314delGC HIFD_KRT14:c.313_314delGC protEffect p.Ala105TrpfsX3 HIFD_KRT14:c.313_314delGC phenoCommon REBS-K HIFD_KRT14:c.612T>A commonName c.612T>A HIFD_KRT14:c.612T>A protEffect p.Tyr204X HIFD_KRT14:c.612T>A phenoCommon REBS-K HIFD_KRT14:c.364C>T commonName c.364C>T HIFD_KRT14:c.364C>T protEffect p.Leu122Phe HIFD_KRT14:c.364C>T phenoCommon EBS-K HIFD_KRT14:c.431A>C commonName c.431A>C HIFD_KRT14:c.431A>C protEffect p.Glu144Ala HIFD_KRT14:c.431A>C phenoCommon REBS-WC HIFD_KRT14:c.359A>G commonName c.359A>G HIFD_KRT14:c.359A>G protEffect p.Gln120Arg HIFD_KRT14:c.359A>G phenoCommon EBS-DM HIFD_KRT14:c.821C>A commonName c.821C>A HIFD_KRT14:c.821C>A protEffect p.Ala274Asp HIFD_KRT14:c.821C>A phenoCommon EBS-WC HIFD_KRT14:c.1130T>A commonName c.1130T>A HIFD_KRT14:c.1130T>A protEffect p.Ile377Asn HIFD_KRT14:c.1130T>A phenoCommon EBS-WC HIFD_KRT14:c.1162C>T commonName c.1162C>T HIFD_KRT14:c.1162C>T protEffect p.Arg388Cys HIFD_KRT14:c.1162C>T phenoCommon EBS-WC HIFD_KRT14:c.815T>G commonName c.815T>G HIFD_KRT14:c.815T>G protEffect p.Met272Arg HIFD_KRT14:c.815T>G phenoCommon EBS-K HIFD_KRT14:c.385T>G commonName c.385T>G HIFD_KRT14:c.385T>G protEffect p.Tyr129Asp HIFD_KRT14:c.385T>G phenoCommon EBS-DM HIFD_KRT14:c.526-2A>C commonName c.526-2A>C HIFD_KRT14:c.526-2A>C protEffect "p.[Ile176ValfsX2, Ile176ProfsX30]" HIFD_KRT14:c.526-2A>C phenoCommon REBS-K HIFD_KRT14:c.357G>A commonName c.357G>A HIFD_KRT14:c.357G>A protEffect p.Met119Ile HIFD_KRT14:c.357G>A phenoCommon EBS-DM HIFD_KRT14:c.915G>A commonName c.915G>A HIFD_KRT14:c.915G>A protEffect p.Trp305X HIFD_KRT14:c.915G>A phenoCommon REBS-K HIFD_KRT14:c.356T>C commonName c.356T>C HIFD_KRT14:c.356T>C protEffect p.Met119Thr HIFD_KRT14:c.356T>C phenoCommon EBS-DM HIFD_KRT14:c.818A>G commonName c.818A>G HIFD_KRT14:c.818A>G protEffect p.Asp273Gly HIFD_KRT14:c.818A>G phenoCommon EBS-WC HIFD_KRT14:c.368A>G commonName c.368A>G HIFD_KRT14:c.368A>G protEffect p.Asn123Ser HIFD_KRT14:c.368A>G phenoCommon EBS-DM HIFD_KRT14:c.348G>C commonName c.348G>C HIFD_KRT14:c.348G>C protEffect p.Lys116Asn HIFD_KRT14:c.348G>C phenoCommon EBS-DM HIFD_KRT14:c.428T>C commonName c.428T>C HIFD_KRT14:c.428T>C protEffect p.Leu143Pro HIFD_KRT14:c.428T>C phenoCommon EBS-DM HIFD_KRT14:c.1243T>C commonName c.1243T>C HIFD_KRT14:c.1243T>C protEffect p.Tyr415His HIFD_KRT14:c.1243T>C phenoCommon EBS-K HIFD_KRT14:c.1256T>A commonName c.1256T>A HIFD_KRT14:c.1256T>A protEffect p.Leu419Gln HIFD_KRT14:c.1256T>A phenoCommon EBS-DM HIFD_KRT14:c.1264G>A commonName c.1264G>A HIFD_KRT14:c.1264G>A protEffect p.Glu422Lys HIFD_KRT14:c.1264G>A phenoCommon EBS-WC HIFD_KRT14:c.526-2A>C phenoCommon REBS HIFD_KRT14:c.1243T>C phenoCommon EBS-DM HIFD_KRT14:c.401G>C commonName c.401G>C HIFD_KRT14:c.401G>C protEffect p.Arg134Pro HIFD_KRT14:c.401G>C phenoCommon EBS-K HIFD_KRT14:c.92delT commonName c.92delT HIFD_KRT14:c.92delT protEffect p.Ile31ThrfsX87 HIFD_KRT14:c.92delT phenoCommon REBS HIFD_KRT14:c.355A>G commonName c.355A>G HIFD_KRT14:c.355A>G protEffect p.Met119Val HIFD_KRT14:c.355A>G phenoCommon EBS-K HIFD_KRT14:c.529_534delCTCACA commonName c.529_534delCTCACA HIFD_KRT14:c.529_534delCTCACA protEffect p.Leu177_Thr178del HIFD_KRT14:c.529_534delCTCACA phenoCommon REBS HIFD_KRT14:c.528T>G commonName c.528T>G HIFD_KRT14:c.528T>G protEffect p.Ile176Met HIFD_KRT14:c.528T>G phenoCommon REBS HIFD_KRT14:c.1231G>T commonName c.1231G>T HIFD_KRT14:c.1231G>T protEffect p.Glu411X HIFD_KRT14:c.1231G>T phenoCommon EBS-K HIFD_KRT14:c.1237G>A commonName c.1237G>A HIFD_KRT14:c.1237G>A protEffect p.Ala413Thr HIFD_KRT14:c.1237G>A phenoCommon EBS-K HIFD_KRT14:c.744delCinsAG commonName c.744delCinsAG HIFD_KRT14:c.744delCinsAG protEffect p.Tyr248X HIFD_KRT14:c.744delCinsAG phenoCommon REBS-K HIFD_KRT14:c.442C>T commonName c.442C>T HIFD_KRT14:c.442C>T protEffect p.Arg148Cys HIFD_KRT14:c.442C>T phenoCommon EBS-WC HIFD_KRT14:c.1247G>C commonName c.1247G>C HIFD_KRT14:c.1247G>C protEffect p.Arg416Pro HIFD_KRT14:c.1247G>C phenoCommon EBS-DM HIFD_KRT14:c.383_385delCCT commonName c.383_385delCCT HIFD_KRT14:c.383_385delCCT protEffect p.Ser128del HIFD_KRT14:c.383_385delCCT phenoCommon EBS-DM HIFD_KRT14:c.1222C>A commonName c.1222C>A HIFD_KRT14:c.1222C>A protEffect p.Leu408Met HIFD_KRT14:c.1222C>A phenoCommon EBS-WC HIFD_KRT14:c.389T>C commonName c.389T>C HIFD_KRT14:c.389T>C protEffect p.Leu130Pro HIFD_KRT14:c.389T>C phenoCommon EBS-DM HIFD_KRT14:c.927+1G>A commonName c.927+1G>A HIFD_KRT14:c.927+1G>A protEffect p.? HIFD_KRT14:c.927+1G>A phenoCommon EBS-K HIFD_KRT14:c.1244A>G commonName c.1244A>G HIFD_KRT14:c.1244A>G protEffect p.Tyr415Cys HIFD_KRT14:c.1244A>G phenoCommon EBS-WC HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] commonName c.[1163G>A; =]+[=; 1186C>T] HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] protEffect p.[Arg388His; =]+[=; Gln396X] HIFD_KRT14:c.[1163G>A; =]+[=; 1186C>T] phenoCommon REBS-WC HIFD_KRT14:c.915G>A phenoCommon EBS-K HIFD_KRT14:c.1186C>T commonName c.1186C>T HIFD_KRT14:c.1186C>T protEffect p.Gln396X HIFD_KRT14:c.1186C>T phenoCommon EBS-K HIFD_KRT14:c.242_243insG commonName c.242_243insG HIFD_KRT14:c.242_243insG protEffect p.Gly81GlyfsX2 HIFD_KRT14:c.242_243insG phenoCommon EBS-DM HIFD_KRT14:c.369T>A commonName c.369T>A HIFD_KRT14:c.369T>A protEffect p.Asn123Lys HIFD_KRT14:c.369T>A phenoCommon EBS-DM HIFD_KRT14:c.373C>G commonName c.373C>G HIFD_KRT14:c.373C>G protEffect p.Arg125Gly HIFD_KRT14:c.373C>G phenoCommon EBS-DM HIFD_KRT14:c.397G>T commonName c.397G>T HIFD_KRT14:c.397G>T protEffect p.Val133Leu HIFD_KRT14:c.397G>T phenoCommon EBS-WC HIFD_KRT14:c.400C>T commonName c.400C>T HIFD_KRT14:c.400C>T protEffect p.Arg134Cys HIFD_KRT14:c.400C>T phenoCommon EBS-WC HIFD_KRT14:c.397G>A commonName c.397G>A HIFD_KRT14:c.397G>A protEffect p.Val133Met HIFD_KRT14:c.397G>A phenoCommon EBS-WC HIFD_KRT14:c.359A>C commonName c.359A>C HIFD_KRT14:c.359A>C protEffect p.Gln120Pro HIFD_KRT14:c.359A>C phenoCommon EBS-K HIFD_KRT14:c.1246_1246delC commonName c.1246_1246delC HIFD_KRT14:c.1246_1246delC protEffect p.Arg416AlafsX26 HIFD_KRT14:c.1246_1246delC phenoCommon EBS-DM HIFD_KRT14:c.1163G>A commonName c.1163G>A HIFD_KRT14:c.1163G>A protEffect p.Arg388His HIFD_KRT14:c.1163G>A phenoCommon EBS-WC HIFD_KRT14:c.1163G>C commonName c.1163G>C HIFD_KRT14:c.1163G>C protEffect p.Arg388Pro HIFD_KRT14:c.1163G>C phenoCommon EBS-WC HIFD_KRT14:c.399G>T commonName c.399G>T HIFD_KRT14:c.399G>T protEffect p.Val133Leu HIFD_KRT14:c.399G>T phenoCommon EBS-K HIFD_KRT14:c.632G>C commonName c.632G>C HIFD_KRT14:c.632G>C protEffect p.Arg211Pro HIFD_KRT14:c.632G>C phenoCommon EBS-WC HIFD_KRT14:c.815T>C commonName c.815T>C HIFD_KRT14:c.815T>C protEffect p.Met272Thr HIFD_KRT14:c.815T>C phenoCommon EBS-K HIFD_KRT14:c.1231_1233delGAG commonName c.1231_1233delGAG HIFD_KRT14:c.1231_1233delGAG protEffect p.Glu411del HIFD_KRT14:c.1231_1233delGAG phenoCommon EBS-WC HIFD_KRT14:c.1250G>C commonName c.1250G>C HIFD_KRT14:c.1250G>C protEffect p.Arg417Pro HIFD_KRT14:c.1250G>C phenoCommon EBS-DM HIFD_KRT14:c.364C>T phenoCommon EBS-DM HIFD_KRT14:c.1218_1218delG commonName c.1218_1218delG HIFD_KRT14:c.1218_1218delG protEffect p.Thr406GlyfsX35 HIFD_KRT14:c.1218_1218delG phenoCommon EBS-WC HIFD_KRT14:c.1218_1218delG phenoCommon EBS-K HIFD_KRT14:c.356T>C phenoCommon EBS-MP HIFD_KRT14:c.427delC commonName c.427delC HIFD_KRT14:c.427delC protEffect p.Leu143TrpfsX3 HIFD_KRT14:c.427delC phenoCommon EBS-K HIFD_KRT14:c.129dupC commonName c.129dupC HIFD_KRT14:c.129dupC protEffect p.Ser44GlnfsX39 HIFD_KRT14:c.129dupC phenoCommon EBS-K HIFD_KRT14:c.355A>G phenoCommon EBS-WC HIFD_KRT14:c.17delG commonName c.17delG HIFD_KRT14:c.17delG protEffect p.Arg6ProfsX9 HIFD_KRT14:c.17delG phenoCommon NFJS HIFD_KRT14:c.54C>A commonName c.54C>A HIFD_KRT14:c.54C>A protEffect p.Cys18X HIFD_KRT14:c.54C>A phenoCommon DPR HIFD_KRT14:c.19C>T commonName c.19C>T HIFD_KRT14:c.19C>T protEffect p.Gln7X HIFD_KRT14:c.19C>T phenoCommon NFJS HIFD_KRT14:c.374G>C commonName c.374G>C HIFD_KRT14:c.374G>C protEffect p.Arg125Pro HIFD_KRT14:c.374G>C phenoCommon EBS-DM HIFD_KRT14:c.397G>C commonName c.397G>C HIFD_KRT14:c.397G>C protEffect p.Val133Leu HIFD_KRT14:c.397G>C phenoCommon EBS-K HIFD_KRT14:c.346A>G commonName c.346A>G HIFD_KRT14:c.346A>G protEffect p.Lys116Glu HIFD_KRT14:c.346A>G phenoCommon EBS-K HIFD_KRT14:c.386A>G commonName c.386A>G HIFD_KRT14:c.386A>G protEffect p.Tyr129Cys HIFD_KRT14:c.386A>G phenoCommon EBS-K HIFD_KRT14:c.398T>C commonName c.398T>C HIFD_KRT14:c.398T>C protEffect p.Val133Ala HIFD_KRT14:c.398T>C phenoCommon EBS-K HIFD_KRT14:c.1130T>C commonName c.1130T>C HIFD_KRT14:c.1130T>C protEffect p.Ile377Thr HIFD_KRT14:c.1130T>C phenoCommon EBS-WC HIFD_KRT14:c.1252C>G commonName c.1252C>G HIFD_KRT14:c.1252C>G protEffect p.Leu418Val HIFD_KRT14:c.1252C>G phenoCommon EBS-K HIFD_KRT14:c.927+1G>A phenoCommon EBS-WC HIFD_KRT14:c.407T>A commonName c.407T>A HIFD_KRT14:c.407T>A protEffect p.Leu136Gln HIFD_KRT14:c.407T>A phenoCommon EBS-WC HIFD_KRT14:c.1231G>A commonName c.1231G>A HIFD_KRT14:c.1231G>A protEffect p.Glu411Lys HIFD_KRT14:c.1231G>A phenoCommon EBS-DM HIFD_KRT14:c.1235T>A commonName c.1235T>A HIFD_KRT14:c.1235T>A protEffect p.Ile412Asn HIFD_KRT14:c.1235T>A phenoCommon EBS-DM HIFD_KRT14:c.373C>T phenoCommon DPR HIFD_KRT14:c.1202T>C commonName c.1202T>C HIFD_KRT14:c.1202T>C protEffect p.Leu401Pro HIFD_KRT14:c.1202T>C phenoCommon EBS-WC HIFD_KRT14:c.374G>T commonName c.374G>T HIFD_KRT14:c.374G>T protEffect p.Arg125Leu HIFD_KRT14:c.374G>T phenoCommon EBS-DM HIFD_KRT14:c.428T>C phenoCommon EBS-K HIFD_KRT14:c.1174G>T commonName c.1174G>T HIFD_KRT14:c.1174G>T protEffect p.Glu392X HIFD_KRT14:c.1174G>T phenoCommon EDMD3 HIFD_KRT14:c.382T>C commonName c.382T>C HIFD_KRT14:c.382T>C protEffect p.Ser128Pro HIFD_KRT14:c.382T>C phenoCommon EBS-DM HIFD_KRT14:c.407T>C commonName c.407T>C HIFD_KRT14:c.407T>C protEffect p.Leu136Pro HIFD_KRT14:c.407T>C phenoCommon EBS-WC HIFD_KRT14:c.419A>G commonName c.419A>G HIFD_KRT14:c.419A>G protEffect p.Asn140Ser HIFD_KRT14:c.419A>G phenoCommon EBS-K HIFD_KRT14:c.803T>A commonName c.803T>A HIFD_KRT14:c.803T>A protEffect p.Val268Asp HIFD_KRT14:c.803T>A phenoCommon EBS-K HIFD_KRT14:c.1141G>A commonName c.1141G>A HIFD_KRT14:c.1141G>A protEffect p.Glu381Lys HIFD_KRT14:c.1141G>A phenoCommon EBS-WC HIFD_KRT14:c.1162C>G commonName c.1162C>G HIFD_KRT14:c.1162C>G protEffect p.Arg388Gly HIFD_KRT14:c.1162C>G phenoCommon EBS-K HIFD_KRT14:c.1163G>C phenoCommon EBS-K HIFD_KRT14:c.373C>T phenoCommon EBS-WC HIFD_KRT14:c.397G>T phenoCommon EBS-K HIFD_KRT14:c.808G>A phenoCommon EBS-K HIFD_KRT14:c.815T>C phenoCommon EBS-WC HIFD_KRT14:c.915G>A phenoCommon EBS-WC HIFD_KRT14:c.1130T>A phenoCommon EBS-K HIFD_KRT14:c.1228C>T commonName c.1228C>T HIFD_KRT14:c.1228C>T protEffect p.Gln410X HIFD_KRT14:c.1228C>T phenoCommon EBS-K HIFD_KRT14:c.1228C>T phenoCommon EBS-WC HIFD_KRT14:c.1117_1158dup42 commonName c.1117_1158dupATCCAGGAGATGATTGGCAGCGTGGAGGAGCAGCTGGCCCAG HIFD_KRT14:c.1117_1158dup42 protEffect p.Ile373GlufsX53 HIFD_KRT14:c.1117_1158dup42 phenoCommon EBS-MP HIFD_KRT14:c.1256_1274+163del182insA commonName c.1256_1274+163delTGGAGGGCGAGGACGCCCAGTGAGTCTTGGCCCTCCCCTTAGTCCGCCCCCCCCATGGCACTCTCACGGCCCCACCATGTATCTAATGATCCTGTCCTTTTCTATTTTCACAGCCTCTCCTCCTCCCAGTTCTCCTCTGGATCGCAGTCATCCAGAGATGGTAAGACCCTCCTCCTCTGCAGinsA HIFD_KRT14:c.1256_1274+163del182insA protEffect p.Leu419HisfsX41 HIFD_KRT14:c.1256_1274+163del182insA phenoCommon EBS-WC HIFD_KRT14:c.1231G>A phenoCommon EBS-K HIFD_KRT14:c.382_384delTCC commonName c.382_384delTCC HIFD_KRT14:c.382_384delTCC protEffect p.Ser128del HIFD_KRT14:c.382_384delTCC phenoCommon EBS-DM HIFD_KRT14:c.815T>G phenoCommon EBS-DM HIFD_KRT14:c.740_748delCCTACCTGAinsGAA commonName c.740_748delCCTACCTGAinsGAA HIFD_KRT14:c.740_748delCCTACCTGAinsGAA protEffect p.Ala247_Lys250delinsGlu HIFD_KRT14:c.740_748delCCTACCTGAinsGAA phenoCommon EBS-WC HIFD_KRT14:c.740_748delCCTACCTGAinsGAA phenoCommon REBS-WC HIFD_KRT14:c.927+1G>T commonName c.927+1G>T HIFD_KRT14:c.927+1G>T protEffect p.? HIFD_KRT14:c.927+1G>T phenoCommon EBS-WC HIFD_KRT14:c.1234A>T commonName c.1234A>T HIFD_KRT14:c.1234A>T protEffect p.Ile412Phe HIFD_KRT14:c.1234A>T phenoCommon EBS-WC HIFD_KRT14:c.1240_1249delACCTACCGCC commonName c.1240_1249delACCTACCGCC HIFD_KRT14:c.1240_1249delACCTACCGCC protEffect p.Thr414AlafsX25 HIFD_KRT14:c.1240_1249delACCTACCGCC phenoCommon REBS-K HIFD_KRT14:c.955A>C commonName c.955A>C HIFD_KRT14:c.955A>C protEffect p.Thr319Pro HIFD_KRT14:c.955A>C phenoCommon EBS-WC HIFD_KRT14:c.346A>T commonName c.346A>T HIFD_KRT14:c.346A>T protEffect p.Lys116X HIFD_KRT14:c.346A>T phenoCommon REBS HIFD_KRT14:c.749delA commonName c.749delA HIFD_KRT14:c.749delA protEffect p.Lys250ArgfsX8 HIFD_KRT14:c.749delA phenoCommon REBS HIFD_KRT14:c.1237G>C commonName c.1237G>C HIFD_KRT14:c.1237G>C protEffect p.Ala413Pro HIFD_KRT14:c.1237G>C phenoCommon EBS-WC HIFD_KRT16:c.395T>C commonName c.395T>C HIFD_KRT16:c.395T>C protEffect p.Leu132Pro HIFD_KRT16:c.395T>C phenoCommon PC-1 HIFD_KRT16:c.379C>T commonName c.379C>T HIFD_KRT16:c.379C>T protEffect p.Arg127Cys HIFD_KRT16:c.379C>T phenoCommon FNEPPK HIFD_KRT16:c.374A>G commonName c.374A>G HIFD_KRT16:c.374A>G protEffect p.Asn125Ser HIFD_KRT16:c.374A>G phenoCommon FNEPPK HIFD_KRT16:c.389_391delCCT commonName c.389_391delCCT HIFD_KRT16:c.389_391delCCT protEffect p.Ser130del HIFD_KRT16:c.389_391delCCT phenoCommon PC-1 HIFD_KRT16:c.380G>C commonName c.380G>C HIFD_KRT16:c.380G>C protEffect p.Arg127Pro HIFD_KRT16:c.380G>C phenoCommon PC-1 HIFD_KRT16:c.365A>C commonName c.365A>C HIFD_KRT16:c.365A>C protEffect p.Gln122Pro HIFD_KRT16:c.365A>C phenoCommon PC-1 HIFD_KRT16:c.[1244_1266del23]+[1270delG] commonName c.[1244_1266delCCACCTACCGCCGCCTGCTGGAG]+[1270delG] HIFD_KRT16:c.[1244_1266del23]+[1270delG] protEffect p.[Ala415_Glu422del]+[Glu424Gln] HIFD_KRT16:c.[1244_1266del23]+[1270delG] phenoCommon FNEPPK HIFD_KRT16:c.371T>G commonName c.371T>G HIFD_KRT16:c.371T>G protEffect p.Leu124Arg HIFD_KRT16:c.371T>G phenoCommon PC-1 HIFD_KRT16:c.309_320del12 commonName c.309_320delTGGTGGTTTTGC HIFD_KRT16:c.309_320del12 protEffect p.Gly104_Ala107del HIFD_KRT16:c.309_320del12 phenoCommon EPPK HIFD_KRT16:c.1062A>T commonName c.1062A>T HIFD_KRT16:c.1062A>T protEffect p.Lys354Asn HIFD_KRT16:c.1062A>T phenoCommon PC-1 HIFD_KRT16:c.362T>C commonName c.362T>C HIFD_KRT16:c.362T>C protEffect p.Met121Thr HIFD_KRT16:c.362T>C phenoCommon PC-1 HIFD_KRT16:c.383T>A commonName c.383T>A HIFD_KRT16:c.383T>A protEffect p.Leu128Gln HIFD_KRT16:c.383T>A phenoCommon PC-1 HIFD_KRT16:c.371T>C commonName c.371T>C HIFD_KRT16:c.371T>C protEffect p.Leu124Pro HIFD_KRT16:c.371T>C phenoCommon PC-1 HIFD_KRT16:c.371T>A commonName c.371T>A HIFD_KRT16:c.371T>A protEffect p.Leu124His HIFD_KRT16:c.371T>A phenoCommon PC-1 HIFD_KRT16:c.373A>G commonName c.373A>G HIFD_KRT16:c.373A>G protEffect p.Asn125Asp HIFD_KRT16:c.373A>G phenoCommon PC-1 HIFD_KRT16:c.374A>G phenoCommon PC-1 HIFD_KRT16:c.43A>T commonName c.43A>T HIFD_KRT16:c.43A>T protEffect p.Lys15X HIFD_KRT16:c.43A>T phenoCommon PC-1 HIFD_KRT16:c.362T>A commonName c.362T>A HIFD_KRT16:c.362T>A protEffect p.Met121Lys HIFD_KRT16:c.362T>A phenoCommon PC-1 HIFD_KRT16:c.379C>T phenoCommon PC-1 HIFD_KRT16:c.371_373delTCA commonName c.371_373delTCA HIFD_KRT16:c.371_373delTCA protEffect p.Leu124_Asn125delinsHis HIFD_KRT16:c.371_373delTCA phenoCommon PC-1 HIFD_KRT16:c.25delA commonName c.25delA HIFD_KRT16:c.25delA protEffect p.Thr9ProfsX6 HIFD_KRT16:c.25delA phenoCommon FNEPPK HIFD_KRT17:c.274A>G commonName c.274A>G HIFD_KRT17:c.274A>G protEffect p.Asn92Asp HIFD_KRT17:c.274A>G phenoCommon PC-2 HIFD_KRT17:c.275A>G commonName c.275A>G HIFD_KRT17:c.275A>G protEffect p.Asn92Ser HIFD_KRT17:c.275A>G phenoCommon PC-2 HIFD_KRT17:c.292T>G commonName c.292T>G HIFD_KRT17:c.292T>G protEffect p.Tyr98Asp HIFD_KRT17:c.292T>G phenoCommon PC-2 HIFD_KRT17:c.274A>C commonName c.274A>C HIFD_KRT17:c.274A>C protEffect p.Asn92His HIFD_KRT17:c.274A>C phenoCommon SM HIFD_KRT17:c.281G>A commonName c.281G>A HIFD_KRT17:c.281G>A protEffect p.Arg94His HIFD_KRT17:c.281G>A phenoCommon SM HIFD_KRT17:c.280C>T commonName c.280C>T HIFD_KRT17:c.280C>T protEffect p.Arg94Cys HIFD_KRT17:c.280C>T phenoCommon PC-2 HIFD_KRT17:c.263T>C commonName c.263T>C HIFD_KRT17:c.263T>C protEffect p.Met88Thr HIFD_KRT17:c.263T>C phenoCommon PC-2 HIFD_KRT17:c.280_294del15 commonName c.280_294delCGCCTGGCCTCCTAC HIFD_KRT17:c.280_294del15 protEffect p.Arg94_Tyr98del HIFD_KRT17:c.280_294del15 phenoCommon PC-2 HIFD_KRT17:c.281G>C commonName c.281G>C HIFD_KRT17:c.281G>C protEffect p.Arg94Pro HIFD_KRT17:c.281G>C phenoCommon PC-2 HIFD_KRT17:c.284T>A commonName c.284T>A HIFD_KRT17:c.284T>A protEffect p.Leu95Gln HIFD_KRT17:c.284T>A phenoCommon PC-2 HIFD_KRT17:c.304G>A commonName c.304G>A HIFD_KRT17:c.304G>A protEffect p.Val102Met HIFD_KRT17:c.304G>A phenoCommon PC-2 HIFD_KRT17:c.289_291delTCC commonName c.289_291delTCC HIFD_KRT17:c.289_291delTCC protEffect p.Ser97del HIFD_KRT17:c.289_291delTCC phenoCommon PC-2 HIFD_KRT17:c.284T>C commonName c.284T>C HIFD_KRT17:c.284T>C protEffect p.Leu95Pro HIFD_KRT17:c.284T>C phenoCommon PC-2 HIFD_KRT17:c.296T>C commonName c.296T>C HIFD_KRT17:c.296T>C protEffect p.Leu99Pro HIFD_KRT17:c.296T>C phenoCommon PC-2 HIFD_KRT17:c.281G>A phenoCommon PC-2 HIFD_KRT17:c.325A>G commonName c.325A>G HIFD_KRT17:c.325A>G protEffect p.Asn109Asp HIFD_KRT17:c.325A>G phenoCommon PC-2 HIFD_KRT17:c.1163T>C commonName c.1163T>C HIFD_KRT17:c.1163T>C protEffect p.Leu388Pro HIFD_KRT17:c.1163T>C phenoCommon PC-2 HIFD_KRT17:c.275A>G phenoCommon PC-1 HIFD_KRT17:c.263T>A commonName c.263T>A HIFD_KRT17:c.263T>A protEffect p.Met88Lys HIFD_KRT17:c.263T>A phenoCommon PC-2 HIFD_KRT17:c.275A>G phenoCommon SM HIFD_KRT17:c.1112T>C commonName c.1112T>C HIFD_KRT17:c.1112T>C protEffect p.Leu371Pro HIFD_KRT17:c.1112T>C phenoCommon SM HIFD_KRT17:c.274_297del24 commonName c.274_297delAATGACCGCCTGGCCTCCTACCTG HIFD_KRT17:c.274_297del24 protEffect p.Asn92_Leu99del HIFD_KRT17:c.274_297del24 phenoCommon PC-2 HIFD_KRT17:c.295_303delCTGGACAAG commonName c.295_303delCTGGACAAG HIFD_KRT17:c.295_303delCTGGACAAG protEffect p.Leu99_Lys101del HIFD_KRT17:c.295_303delCTGGACAAG phenoCommon PC-2 HIFD_KRT17:c.287_298del12 commonName c.287_298delCCTCCTACCTGG HIFD_KRT17:c.287_298del12 protEffect p.Ala96_Leu99del HIFD_KRT17:c.287_298del12 phenoCommon PC-2 HIFD_KRT18:c.383A>T commonName c.383A>T HIFD_KRT18:c.383A>T protEffect p.His128Leu HIFD_KRT18:c.307A>G commonName c.307A>G HIFD_KRT18:c.307A>G protEffect p.Thr103Ala HIFD_KRT18:c.782G>A commonName c.782G>A HIFD_KRT18:c.782G>A protEffect p.Arg261Gln HIFD_KRT18:c.782G>A phenoCommon PBC HIFD_KRT18:c.1018G>A commonName c.1018G>A HIFD_KRT18:c.1018G>A protEffect p.Gly340Arg HIFD_KRT18:c.193_216del24 commonName c.193_216delACCGGGATAGCCGGGGGTCTGGCA HIFD_KRT18:c.193_216del24 protEffect p.Thr65_Ala72del HIFD_KRT18:c.448A>G commonName c.448A>G HIFD_KRT18:c.448A>G protEffect p.Ile150Val HIFD_KRT18:c.827A>G commonName c.827A>G HIFD_KRT18:c.827A>G protEffect p.Glu276Gly HIFD_KRT18:c.854A>G commonName c.854A>G HIFD_KRT18:c.854A>G protEffect p.Gln285Arg HIFD_KRT18:c.884C>T commonName c.884C>T HIFD_KRT18:c.884C>T protEffect p.Thr295Met HIFD_KRT18:c.890C>T commonName c.890C>T HIFD_KRT18:c.890C>T protEffect p.Thr297Ile HIFD_KRT18:c.1232G>A commonName c.1232G>A HIFD_KRT18:c.1232G>A protEffect p.Arg411His HIFD_KRT18:c.1232G>A phenoCommon PBC HIFD_KRT19:c.49G>A commonName c.49G>A HIFD_KRT19:c.49G>A protEffect p.Gly17Ser HIFD_KRT19:c.49G>A phenoCommon PBC HIFD_KRT9:c.481A>T commonName c.481A>T HIFD_KRT9:c.481A>T protEffect p.Asn161Tyr HIFD_KRT9:c.481A>T phenoCommon EPPK HIFD_KRT9:c.483T>A commonName c.483T>A HIFD_KRT9:c.483T>A protEffect p.Asn161Lys HIFD_KRT9:c.483T>A phenoCommon EPPK HIFD_KRT9:c.487C>T commonName c.487C>T HIFD_KRT9:c.487C>T protEffect p.Arg163Trp HIFD_KRT9:c.487C>T phenoCommon EPPK HIFD_KRT9:c.488G>A commonName c.488G>A HIFD_KRT9:c.488G>A protEffect p.Arg163Gln HIFD_KRT9:c.488G>A phenoCommon EPPK HIFD_KRT9:c.469A>G commonName c.469A>G HIFD_KRT9:c.469A>G protEffect p.Met157Val HIFD_KRT9:c.469A>G phenoCommon EPPK HIFD_KRT9:c.515A>C commonName c.515A>C HIFD_KRT9:c.515A>C protEffect p.Gln172Pro HIFD_KRT9:c.515A>C phenoCommon EPPK HIFD_KRT9:c.482A>G commonName c.482A>G HIFD_KRT9:c.482A>G protEffect p.Asn161Ser HIFD_KRT9:c.482A>G phenoCommon EPPK HIFD_KRT9:c.503T>C commonName c.503T>C HIFD_KRT9:c.503T>C protEffect p.Leu168Ser HIFD_KRT9:c.503T>C phenoCommon EPPK HIFD_KRT9:c.478C>G commonName c.478C>G HIFD_KRT9:c.478C>G protEffect p.Leu160Val HIFD_KRT9:c.478C>G phenoCommon EPPK HIFD_KRT9:c.470T>C commonName c.470T>C HIFD_KRT9:c.470T>C protEffect p.Met157Thr HIFD_KRT9:c.470T>C phenoCommon EPPK HIFD_KRT9:c.1362_1363insCAC commonName c.1362_1363insCAC HIFD_KRT9:c.1362_1363insCAC protEffect p.Tyr454_His455insHis HIFD_KRT9:c.1362_1363insCAC phenoCommon EPPK HIFD_KRT9:c.508A>T commonName c.508A>T HIFD_KRT9:c.508A>T protEffect p.Lys170X HIFD_KRT9:c.508A>T phenoCommon EPPK HIFD_KRT9:c.511G>A commonName c.511G>A HIFD_KRT9:c.511G>A protEffect p.Val171Met HIFD_KRT9:c.511G>A phenoCommon EPPK HIFD_KRT9:c.482A>T commonName c.482A>T HIFD_KRT9:c.482A>T protEffect p.Asn161Ile HIFD_KRT9:c.482A>T phenoCommon EPPK HIFD_KRT9:c.478C>T commonName c.478C>T HIFD_KRT9:c.478C>T protEffect p.Leu160Phe HIFD_KRT9:c.478C>T phenoCommon EPPK HIFD_KRT9:c.481A>C commonName c.481A>C HIFD_KRT9:c.481A>C protEffect p.Asn161His HIFD_KRT9:c.481A>C phenoCommon EPPK HIFD_KRT9:c.500_500delAinsGGCT commonName c.500_500delAinsGGCT HIFD_KRT9:c.500_500delAinsGGCT protEffect p.Tyr167delinsTrpLeu HIFD_KRT9:c.500_500delAinsGGCT phenoCommon EPPK HIFD_KRT9:c.488G>C commonName c.488G>C HIFD_KRT9:c.488G>C protEffect p.Arg163Pro HIFD_KRT9:c.488G>C phenoCommon EPPK HIFD_KRT9:c.500delAinsGGCT commonName c.500delAinsGGCT HIFD_KRT9:c.500delAinsGGCT protEffect p.Tyr167delinsTrpLeu HIFD_KRT9:c.500delAinsGGCT phenoCommon EPPK HIFD_KRT9:c.470T>G commonName c.470T>G HIFD_KRT9:c.470T>G protEffect p.Met157Arg HIFD_KRT9:c.470T>G phenoCommon EPPK HIFD_KRT9:c.1372C>T commonName c.1372C>T HIFD_KRT9:c.1372C>T protEffect p.Leu458Phe HIFD_KRT9:c.1372C>T phenoCommon EPPK HIFD_KRT9:c.484C>T commonName c.484C>T HIFD_KRT9:c.484C>T protEffect p.Pro162Ser HIFD_KRT9:c.484C>T phenoCommon EPPK HIFD_KRT9:c.470T>A commonName c.470T>A HIFD_KRT9:c.470T>A protEffect p.Met157Lys HIFD_KRT9:c.470T>A phenoCommon EPPK HIFD_KRT9:c.1360T>C commonName c.1360T>C HIFD_KRT9:c.1360T>C protEffect p.Tyr454His HIFD_KRT9:c.1360T>C phenoCommon EPPK HIFD_KRT9:c.1216T>C commonName c.1216T>C HIFD_KRT9:c.1216T>C protEffect p.Cys406Arg HIFD_KRT9:c.1216T>C phenoCommon EPPK HIFD_KRT1:c.1468G>C commonName c.1468G>C HIFD_KRT1:c.1468G>C protEffect p.Glu490Gln HIFD_KRT1:c.1468G>C phenoCommon BCIE/EHK HIFD_KRT1:c.482T>C commonName c.482T>C HIFD_KRT1:c.482T>C protEffect p.Leu161Pro HIFD_KRT1:c.482T>C phenoCommon BCIE/EHK HIFD_KRT1:c.563A>G commonName c.563A>G HIFD_KRT1:c.563A>G protEffect p.Asn188Ser HIFD_KRT1:c.563A>G phenoCommon BCIE/EHK HIFD_KRT1:c.577T>C commonName c.577T>C HIFD_KRT1:c.577T>C protEffect p.Ser193Pro HIFD_KRT1:c.577T>C phenoCommon BCIE/EHK HIFD_KRT1:c.464T>G commonName c.464T>G HIFD_KRT1:c.464T>G protEffect p.Val155Gly HIFD_KRT1:c.464T>G phenoCommon BCIE/EHK HIFD_KRT1:c.556T>C commonName c.556T>C HIFD_KRT1:c.556T>C protEffect p.Ser186Pro HIFD_KRT1:c.556T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1445A>G commonName c.1445A>G HIFD_KRT1:c.1445A>G protEffect p.Tyr482Cys HIFD_KRT1:c.1445A>G phenoCommon BCIE/EHK HIFD_KRT1:c.221A>T commonName c.221A>T HIFD_KRT1:c.221A>T protEffect p.Lys74Ile HIFD_KRT1:c.221A>T phenoCommon NEPPK HIFD_KRT1:c.536G>C commonName c.536G>C HIFD_KRT1:c.536G>C protEffect p.Arg179Pro HIFD_KRT1:c.536G>C phenoCommon BCIE/EHK HIFD_KRT1:c.1019A>T commonName c.1019A>T HIFD_KRT1:c.1019A>T protEffect p.Asp340Val HIFD_KRT1:c.1019A>T phenoCommon BCIE/EHK HIFD_KRT1:c.1436T>C commonName c.1436T>C HIFD_KRT1:c.1436T>C protEffect p.Ile479Thr HIFD_KRT1:c.1436T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1435A>T commonName c.1435A>T HIFD_KRT1:c.1435A>T protEffect p.Ile479Phe HIFD_KRT1:c.1435A>T phenoCommon BCIE/EHK HIFD_KRT1:c.1434G>T commonName c.1434G>T HIFD_KRT1:c.1434G>T protEffect p.Glu478Asp HIFD_KRT1:c.1434G>T phenoCommon BCIE/EHK HIFD_KRT1:c.563A>C commonName c.563A>C HIFD_KRT1:c.563A>C protEffect p.Asn188Thr HIFD_KRT1:c.563A>C phenoCommon BCIE/EHK HIFD_KRT1:c.641T>C commonName c.641T>C HIFD_KRT1:c.641T>C protEffect p.Leu214Pro HIFD_KRT1:c.641T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1609_1610delGGinsA commonName c.1609_1610delGGinsA HIFD_KRT1:c.1609_1610delGGinsA protEffect p.Gly537IlefsX77 HIFD_KRT1:c.1609_1610delGGinsA phenoCommon IHCM HIFD_KRT1:c.1254+1G>A commonName c.1254+1G>A HIFD_KRT1:c.1254+1G>A protEffect p.Gln418_Ile419ins18 HIFD_KRT1:c.1254+1G>A phenoCommon EPPK HIFD_KRT1:c.464T>A commonName c.464T>A HIFD_KRT1:c.464T>A protEffect p.Val155Asp HIFD_KRT1:c.464T>A phenoCommon BCIE/EHK HIFD_KRT1:c.531G>T commonName c.531G>T HIFD_KRT1:c.531G>T protEffect p.Lys177Asn HIFD_KRT1:c.531G>T phenoCommon BCIE/EHK HIFD_KRT1:c.573T>G commonName c.573T>G HIFD_KRT1:c.573T>G protEffect p.Phe191Leu HIFD_KRT1:c.573T>G phenoCommon BCIE/EHK HIFD_KRT1:c.591+1G>C commonName c.591+1G>C HIFD_KRT1:c.591+1G>C protEffect p.? HIFD_KRT1:c.591+1G>C phenoCommon BCIE/EHK HIFD_KRT1:c.591+1G>A commonName c.591+1G>A HIFD_KRT1:c.591+1G>A protEffect p.? HIFD_KRT1:c.591+1G>A phenoCommon BCIE/EHK HIFD_KRT1:c.502_513del12 commonName c.502_513delGAGATTGACCCT HIFD_KRT1:c.502_513del12 protEffect p.Glu168_Pro171del HIFD_KRT1:c.502_513del12 phenoCommon BCIE/EHK HIFD_KRT1:c.1628delG commonName c.1628delG HIFD_KRT1:c.1628delG protEffect p.Gly543ValfsX70 HIFD_KRT1:c.1628delG phenoCommon SPPK HIFD_KRT1:c.1432G>A commonName c.1432G>A HIFD_KRT1:c.1432G>A protEffect p.Glu478Lys HIFD_KRT1:c.1432G>A phenoCommon BCIE/EHK HIFD_KRT1:c.591+2T>A commonName c.591+2T>A HIFD_KRT1:c.591+2T>A protEffect p.Val176_Lys197del HIFD_KRT1:c.591+2T>A phenoCommon PPK HIFD_KRT1:c.1376_1399del24 commonName c.1376_1399delCCCGCCTGCTGCGCGACTACCAGG HIFD_KRT1:c.1376_1399del24 protEffect p.Ala459_Gln466del HIFD_KRT1:c.1376_1399del24 phenoCommon PPK HIFD_KRT1:c.564C>A commonName c.564C>A HIFD_KRT1:c.564C>A protEffect p.Asn188Lys HIFD_KRT1:c.564C>A phenoCommon BCIE/EHK HIFD_KRT1:c.1457T>C commonName c.1457T>C HIFD_KRT1:c.1457T>C protEffect p.Leu486Pro HIFD_KRT1:c.1457T>C phenoCommon BCIE/EHK HIFD_KRT1:c.1751_1752insG commonName c.1751_1752insG HIFD_KRT1:c.1751_1752insG protEffect p.Tyr587LeufsX67 HIFD_KRT1:c.1751_1752insG phenoCommon BCIE/EHK HIFD_KRT1:c.572T>G commonName c.572T>G HIFD_KRT1:c.572T>G protEffect p.Phe191Cys HIFD_KRT1:c.572T>G phenoCommon BCIE/EHK HIFD_KRT1:c.508_519del12 commonName c.508_519delGACCCTGAGATC HIFD_KRT1:c.508_519del12 protEffect p.Asp170_Ile173del HIFD_KRT1:c.508_519del12 phenoCommon BCIE/EHK HIFD_KRT1:c.1436T>C phenoCommon EPPK HIFD_KRT1:c.591+3_591+6delGAGT commonName c.591+3_591+6delGAGT HIFD_KRT1:c.591+3_591+6delGAGT protEffect p.Val176_Lys197del HIFD_KRT1:c.591+3_591+6delGAGT phenoCommon BCIE/EHK HIFD_KRT1:c.1441A>C commonName c.1441A>C HIFD_KRT1:c.1441A>C protEffect p.Thr481Pro HIFD_KRT1:c.1441A>C phenoCommon BCIE/EHK HIFD_KRT1:c.563A>G phenoCommon GS HIFD_KRT1:c.559C>T commonName c.559C>T HIFD_KRT1:c.559C>T protEffect p.Leu187Phe HIFD_KRT1:c.559C>T phenoCommon BCIE/EHK HIFD_KRT1:c.1556_1556delG commonName c.1556_1556delG HIFD_KRT1:c.1556_1556delG protEffect p.Gly519GlufsX94 HIFD_KRT1:c.1556_1556delG phenoCommon IHCM HIFD_KRT1:c.698C>T commonName c.698C>T HIFD_KRT1:c.698C>T protEffect p.Ser233Leu HIFD_KRT1:c.698C>T phenoCommon EPPK HIFD_KRT1:c.1469A>G commonName c.1469A>G HIFD_KRT1:c.1469A>G protEffect p.Glu490Gly HIFD_KRT1:c.1469A>G phenoCommon BCIE/EHK HIFD_KRT1:c.623T>C commonName c.623T>C HIFD_KRT1:c.623T>C protEffect p.Leu208Pro HIFD_KRT1:c.623T>C phenoCommon BCIE/EHK HIFD_KRT1:c.571T>A commonName c.571T>A HIFD_KRT1:c.571T>A protEffect p.Phe191Ile HIFD_KRT1:c.571T>A phenoCommon BCIE/EHK HIFD_KRT1:c.1465G>A commonName c.1465G>A HIFD_KRT1:c.1465G>A protEffect p.Glu489Lys HIFD_KRT1:c.1465G>A phenoCommon BCIE/EHK HIFD_KRT1:c.591+2T>A phenoCommon BCIE/EHK HIFD_KRT1:c.1019A>G commonName c.1019A>G HIFD_KRT1:c.1019A>G protEffect p.Asp340Gly HIFD_KRT1:c.1019A>G phenoCommon BCIE/EHK HIFD_KRT1:c.1310T>C commonName c.1310T>C HIFD_KRT1:c.1310T>C protEffect p.Leu437Pro HIFD_KRT1:c.1310T>C phenoCommon NEPPK HIFD_KRT1:c.698C>T phenoCommon NEPPK HIFD_KRT1:c.693T>G commonName c.693T>G HIFD_KRT1:c.693T>G protEffect p.Phe231Leu HIFD_KRT1:c.693T>G phenoCommon NEPPK HIFD_KRT1:c.1457T>G commonName c.1457T>G HIFD_KRT1:c.1457T>G protEffect p.Leu486Arg HIFD_KRT1:c.1457T>G phenoCommon BCIE/EHK HIFD_KRT1:c.563A>G phenoCommon CIEH HIFD_KRT1:c.564C>A phenoCommon ADLD HIFD_KRT1:c.1432G>C commonName c.1432G>C HIFD_KRT1:c.1432G>C protEffect p.Glu478Gln HIFD_KRT1:c.1432G>C phenoCommon CIEH HIFD_KRT1:c.1436T>C phenoCommon CIEH HIFD_KRT1:c.1454T>C commonName c.1454T>C HIFD_KRT1:c.1454T>C protEffect p.Leu485Pro HIFD_KRT1:c.1454T>C phenoCommon CIEH HIFD_KRT1:c.1457T>C phenoCommon CIEH HIFD_KRT1:c.1468G>A commonName c.1468G>A HIFD_KRT1:c.1468G>A protEffect p.Glu490Lys HIFD_KRT1:c.1468G>A phenoCommon CIEH HIFD_KRT1:c.1861_1861insT commonName c.1861_1861insT HIFD_KRT1:c.1861_1861insT protEffect p.Gly621ValfsX32 HIFD_KRT1:c.1861_1861insT phenoCommon IHCM HIFD_KRT2:c.1459G>A commonName c.1459G>A HIFD_KRT2:c.1459G>A protEffect p.Glu487Lys HIFD_KRT2:c.1459G>A phenoCommon IBS HIFD_KRT2:c.1461G>T commonName c.1461G>T HIFD_KRT2:c.1461G>T protEffect p.Glu487Asp HIFD_KRT2:c.1461G>T phenoCommon IBS HIFD_KRT2:c.542A>T commonName c.542A>T HIFD_KRT2:c.542A>T protEffect p.Gln181Pro HIFD_KRT2:c.542A>T phenoCommon IBS HIFD_KRT2:c.1451T>C commonName c.1451T>C HIFD_KRT2:c.1451T>C protEffect p.Leu484Pro HIFD_KRT2:c.1451T>C phenoCommon IBS HIFD_KRT2:c.1462G>A commonName c.1462G>A HIFD_KRT2:c.1462G>A protEffect p.Glu488Lys HIFD_KRT2:c.1462G>A phenoCommon IBS HIFD_KRT2:c.1435A>C commonName c.1435A>C HIFD_KRT2:c.1435A>C protEffect p.Thr479Pro HIFD_KRT2:c.1435A>C phenoCommon IBS HIFD_KRT2:c.1426G>A commonName c.1426G>A HIFD_KRT2:c.1426G>A protEffect p.Glu476Lys HIFD_KRT2:c.1426G>A phenoCommon IBS HIFD_KRT2:c.556A>T commonName c.556A>T HIFD_KRT2:c.556A>T protEffect p.Asn186Tyr HIFD_KRT2:c.556A>T phenoCommon IBS HIFD_KRT2:c.545T>A commonName c.545T>A HIFD_KRT2:c.545T>A protEffect p.Ile182Asn HIFD_KRT2:c.545T>A phenoCommon IBS HIFD_KRT2:c.1427A>T commonName c.1427A>T HIFD_KRT2:c.1427A>T protEffect p.Glu476Val HIFD_KRT2:c.1427A>T phenoCommon IBS HIFD_KRT2:c.607A>G commonName c.607A>G HIFD_KRT2:c.607A>G protEffect p.Asn192Asp HIFD_KRT2:c.607A>G phenoCommon IBS HIFD_KRT2:c.1448T>A commonName c.1448T>A HIFD_KRT2:c.1448T>A protEffect p.Leu483Gln HIFD_KRT2:c.1448T>A phenoCommon IBS HIFD_KRT2:c.558C>A commonName c.558C>A HIFD_KRT2:c.558C>A protEffect p.Asn186Lys HIFD_KRT2:c.558C>A phenoCommon IBS HIFD_KRT2:c.532G>A commonName c.532G>A HIFD_KRT2:c.532G>A protEffect p.Glu178Lys HIFD_KRT2:c.532G>A phenoCommon IBS HIFD_KRT3:c.1525G>A commonName c.1525G>A HIFD_KRT3:c.1525G>A protEffect p.Glu509Lys HIFD_KRT3:c.1525G>A phenoCommon MCD HIFD_KRT3:c.1508G>C commonName c.1508G>C HIFD_KRT3:c.1508G>C protEffect p.Arg503Pro HIFD_KRT3:c.1508G>C phenoCommon MCD HIFD_KRT3:c.1493A>T commonName c.1493A>T HIFD_KRT3:c.1493A>T protEffect p.Glu498Val HIFD_KRT3:c.1493A>T phenoCommon MCD HIFD_KRT4:c.657_659delCAA commonName c.657_659delCAA HIFD_KRT4:c.657_659delCAA protEffect p.Asn220del HIFD_KRT4:c.657_659delCAA phenoCommon WSN HIFD_KRT4:c.638_639insACA commonName c.638_639insACA HIFD_KRT4:c.638_639insACA protEffect p.Glu213_Gln214insGln HIFD_KRT4:c.638_639insACA phenoCommon WSN HIFD_KRT4:c.1525G>A commonName c.1525G>A HIFD_KRT4:c.1525G>A protEffect p.Glu509Lys HIFD_KRT4:c.1525G>A phenoCommon WSN HIFD_KRT4:c.*269A>G commonName c.*269A>G HIFD_KRT4:c.*269A>G protEffect p.= HIFD_KRT4:c.*269A>G phenoCommon WSN HIFD_KRT4:c.1558G>A commonName c.1558G>A HIFD_KRT4:c.1558G>A protEffect p.Glu520Lys HIFD_KRT4:c.1558G>A phenoCommon WSN HIFD_KRT5:c.1424A>G commonName c.1424A>G HIFD_KRT5:c.1424A>G protEffect p.Glu475Gly HIFD_KRT5:c.1424A>G phenoCommon EBS-DM HIFD_KRT5:c.991C>T commonName c.991C>T HIFD_KRT5:c.991C>T protEffect p.Arg331Cys HIFD_KRT5:c.991C>T phenoCommon EBS-WC HIFD_KRT5:c.980T>C commonName c.980T>C HIFD_KRT5:c.980T>C protEffect p.Met327Thr HIFD_KRT5:c.980T>C phenoCommon EBS-WC HIFD_KRT5:c.987C>A commonName c.987C>A HIFD_KRT5:c.987C>A protEffect p.Asn329Lys HIFD_KRT5:c.987C>A phenoCommon EBS-WC HIFD_KRT5:c.519G>C commonName c.519G>C HIFD_KRT5:c.519G>C protEffect p.Lys173Asn HIFD_KRT5:c.519G>C phenoCommon EBS-K HIFD_KRT5:c.482T>G commonName c.482T>G HIFD_KRT5:c.482T>G protEffect p.Ile161Ser HIFD_KRT5:c.482T>G phenoCommon EBS-WC HIFD_KRT5:c.1388T>C commonName c.1388T>C HIFD_KRT5:c.1388T>C protEffect p.Leu463Pro HIFD_KRT5:c.1388T>C phenoCommon EBS-K HIFD_KRT5:c.983A>T commonName c.983A>T HIFD_KRT5:c.983A>T protEffect p.Asp328Val HIFD_KRT5:c.983A>T phenoCommon EBS-WC HIFD_KRT5:c.523C>T commonName c.523C>T HIFD_KRT5:c.523C>T protEffect p.Leu175Phe HIFD_KRT5:c.523C>T phenoCommon EBS-DM HIFD_KRT5:c.74C>T commonName c.74C>T HIFD_KRT5:c.74C>T protEffect p.Pro25Leu HIFD_KRT5:c.74C>T phenoCommon EBS-MP HIFD_KRT5:c.579C>G commonName c.579C>G HIFD_KRT5:c.579C>G protEffect p.Asn193Lys HIFD_KRT5:c.579C>G phenoCommon EBS-WC HIFD_KRT5:c.1429G>A commonName c.1429G>A HIFD_KRT5:c.1429G>A protEffect p.Glu477Lys HIFD_KRT5:c.1429G>A phenoCommon EBS-DM HIFD_KRT5:c.536T>C commonName c.536T>C HIFD_KRT5:c.536T>C protEffect p.Phe179Ser HIFD_KRT5:c.536T>C phenoCommon EBS-DM HIFD_KRT5:c.527A>G commonName c.527A>G HIFD_KRT5:c.527A>G protEffect p.Asn176Ser HIFD_KRT5:c.527A>G phenoCommon EBS-DM HIFD_KRT5:c.1400T>C commonName c.1400T>C HIFD_KRT5:c.1400T>C protEffect p.Ile467Thr HIFD_KRT5:c.1400T>C phenoCommon EBS-DM HIFD_KRT5:c.968T>C commonName c.968T>C HIFD_KRT5:c.968T>C protEffect p.Val323Ala HIFD_KRT5:c.968T>C phenoCommon EBS-K HIFD_KRT5:c.980T>A commonName c.980T>A HIFD_KRT5:c.980T>A protEffect p.Met327Lys HIFD_KRT5:c.980T>A phenoCommon EBS-WC HIFD_KRT5:c.455C>T commonName c.455C>T HIFD_KRT5:c.455C>T protEffect p.Pro152Leu HIFD_KRT5:c.455C>T phenoCommon EBS-WC HIFD_KRT5:c.982G>C commonName c.982G>C HIFD_KRT5:c.982G>C protEffect p.Asp328His HIFD_KRT5:c.982G>C phenoCommon EBS-WC HIFD_KRT5:c.974T>C commonName c.974T>C HIFD_KRT5:c.974T>C protEffect p.Leu325Pro HIFD_KRT5:c.974T>C phenoCommon EBS-DM HIFD_KRT5:c.490_555del66 commonName c.490_555delGTGAGGACCGAGGAGCGCGAGCAGATCAAGACCCTCAACAATAAGTTTGCCTCCTTCATCGACAAG HIFD_KRT5:c.490_555del66 protEffect p.Val164_Lys185del HIFD_KRT5:c.490_555del66 phenoCommon EBS-DM HIFD_KRT5:c.1429G>T commonName c.1429G>T HIFD_KRT5:c.1429G>T protEffect p.Glu477X HIFD_KRT5:c.1429G>T phenoCommon EBS-DM HIFD_KRT5:c.541T>C commonName c.541T>C HIFD_KRT5:c.541T>C protEffect p.Ser181Pro HIFD_KRT5:c.541T>C phenoCommon EBS-DM HIFD_KRT5:c.984C>A commonName c.984C>A HIFD_KRT5:c.984C>A protEffect p.Asp328Glu HIFD_KRT5:c.984C>A phenoCommon EBS-WC HIFD_KRT5:c.556G>T commonName c.556G>T HIFD_KRT5:c.556G>T protEffect p.Val186Leu HIFD_KRT5:c.556G>T phenoCommon EBS-K HIFD_KRT5:c.1414A>T commonName c.1414A>T HIFD_KRT5:c.1414A>T protEffect p.Lys472X HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] commonName c.[508G>C; =]+[=; 1252G>A] HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] protEffect p.[Glu170Lys; =]+[=; Glu418Lys] HIFD_KRT5:c.[508G>C; =]+[=; 1252G>A] phenoCommon REBS-K HIFD_KRT5:c.1635_1635delG commonName c.1635_1635delG HIFD_KRT5:c.1635_1635delG protEffect p.Leu546SerfsX82 HIFD_KRT5:c.1635_1635delG phenoCommon EBS-WC HIFD_KRT5:c.1210A>G commonName c.1210A>G HIFD_KRT5:c.1210A>G protEffect p.Lys404Glu HIFD_KRT5:c.1210A>G phenoCommon EBS-WC HIFD_KRT5:c.1313C>A commonName c.1313C>A HIFD_KRT5:c.1313C>A protEffect p.Ala438Asp HIFD_KRT5:c.1313C>A phenoCommon EBS-WC HIFD_KRT5:c.1423G>A commonName c.1423G>A HIFD_KRT5:c.1423G>A protEffect p.Glu475Lys HIFD_KRT5:c.1423G>A phenoCommon EBS-DM HIFD_KRT5:c.556-1G>C commonName c.556-1G>C HIFD_KRT5:c.556-1G>C protEffect p.Val186_Gln189del HIFD_KRT5:c.556-1G>C phenoCommon EBS-K HIFD_KRT5:c.932T>G commonName c.932T>G HIFD_KRT5:c.932T>G protEffect p.Leu311Arg HIFD_KRT5:c.932T>G phenoCommon EBS-WC HIFD_KRT5:c.499G>A commonName c.499G>A HIFD_KRT5:c.499G>A protEffect p.Glu167Lys HIFD_KRT5:c.499G>A phenoCommon EBS-WC HIFD_KRT5:c.971T>A commonName c.971T>A HIFD_KRT5:c.971T>A protEffect p.Val324Asp HIFD_KRT5:c.971T>A phenoCommon EBS-WC HIFD_KRT5:c.547A>T commonName c.547A>T HIFD_KRT5:c.547A>T protEffect p.Ile183Phe HIFD_KRT5:c.547A>T phenoCommon EBS-DM HIFD_KRT5:c.1649_1649delG commonName c.1649_1649delG HIFD_KRT5:c.1649_1649delG protEffect p.Gly550AlafsX77 HIFD_KRT5:c.1649_1649delG phenoCommon EBS-MCE HIFD_KRT5:c.596A>C commonName c.596A>C HIFD_KRT5:c.596A>C protEffect p.Lys199Thr HIFD_KRT5:c.596A>C phenoCommon EBS-WC HIFD_KRT5:c.530A>G commonName c.530A>G HIFD_KRT5:c.530A>G protEffect p.Asn177Ser HIFD_KRT5:c.530A>G phenoCommon EBS-WC HIFD_KRT5:c.983A>G commonName c.983A>G HIFD_KRT5:c.983A>G protEffect p.Asp328Gly HIFD_KRT5:c.983A>G phenoCommon EBS-WC HIFD_KRT5:c.539C>A commonName c.539C>A HIFD_KRT5:c.539C>A protEffect p.Ala180Asp HIFD_KRT5:c.539C>A phenoCommon EBS-DM HIFD_KRT5:c.1430A>G commonName c.1430A>G HIFD_KRT5:c.1430A>G protEffect p.Glu477Gly HIFD_KRT5:c.1430A>G phenoCommon EBS-WC HIFD_KRT5:c.974T>C phenoCommon EBS-WC HIFD_KRT5:c.1285_1299del15 commonName c.1285_1299delAGGAACAAGCTGGCC HIFD_KRT5:c.1285_1299del15 protEffect p.Arg429_Ala433del HIFD_KRT5:c.1285_1299del15 phenoCommon EBS-DM HIFD_KRT5:c.1649delG commonName c.1649delG HIFD_KRT5:c.1649delG protEffect p.Gly550AlafsX77 HIFD_KRT5:c.1649delG phenoCommon EBS-MP HIFD_KRT5:c.547_549delATC commonName c.547_549delATC HIFD_KRT5:c.547_549delATC protEffect p.Ile183del HIFD_KRT5:c.547_549delATC phenoCommon EBS-DM HIFD_KRT5:c.1401C>G commonName c.1401C>G HIFD_KRT5:c.1401C>G protEffect p.Ile467Met HIFD_KRT5:c.1401C>G phenoCommon EBS-K HIFD_KRT5:c.14C>A commonName c.14C>A HIFD_KRT5:c.14C>A protEffect p.Ser5X HIFD_KRT5:c.14C>A phenoCommon DDD HIFD_KRT5:c.418dupA commonName c.418dupA HIFD_KRT5:c.418dupA protEffect p.Ile140AsnfsX39 HIFD_KRT5:c.418dupA phenoCommon DDD HIFD_KRT5:c.1427G>C commonName c.1427G>C HIFD_KRT5:c.1427G>C protEffect p.Gly476Asp HIFD_KRT5:c.1427G>C phenoCommon EBS-WC HIFD_KRT5:c.596A>G commonName c.596A>G HIFD_KRT5:c.596A>G protEffect p.Lys199Arg HIFD_KRT5:c.596A>G phenoCommon EBS-WC HIFD_KRT5:c.502G>A commonName c.502G>A HIFD_KRT5:c.502G>A protEffect p.Glu168Lys HIFD_KRT5:c.502G>A phenoCommon EBS-DM HIFD_KRT5:c.506G>C commonName c.506G>C HIFD_KRT5:c.506G>C protEffect p.Arg169Pro HIFD_KRT5:c.506G>C phenoCommon EBS-DM HIFD_KRT5:c.568G>A commonName c.568G>A HIFD_KRT5:c.568G>A protEffect p.Glu190Lys HIFD_KRT5:c.568G>A phenoCommon EBS-WC HIFD_KRT5:c.992G>A commonName c.992G>A HIFD_KRT5:c.992G>A protEffect p.Arg331His HIFD_KRT5:c.992G>A phenoCommon EBS-WC HIFD_KRT5:c.1405A>C commonName c.1405A>C HIFD_KRT5:c.1405A>C protEffect p.Thr469Pro HIFD_KRT5:c.1405A>C phenoCommon EBS-DM HIFD_KRT5:c.508G>A commonName c.508G>A HIFD_KRT5:c.508G>A protEffect p.Glu170Lys HIFD_KRT5:c.508G>A phenoCommon EBS-WC HIFD_KRT5:c.442_443delAG commonName c.442_443delAG HIFD_KRT5:c.442_443delAG protEffect p.Leu149ProfsX29 HIFD_KRT5:c.442_443delAG phenoCommon DDD HIFD_KRT5:c.473A>T commonName c.473A>T HIFD_KRT5:c.473A>T protEffect p.Asp158Val HIFD_KRT5:c.473A>T phenoCommon EBS-WC HIFD_KRT5:c.428T>A commonName c.428T>A HIFD_KRT5:c.428T>A protEffect p.Val143Asp HIFD_KRT5:c.428T>A phenoCommon EBS-K HIFD_KRT5:c.572A>C commonName c.572A>C HIFD_KRT5:c.572A>C protEffect p.Gln191Pro HIFD_KRT5:c.572A>C phenoCommon EBS-K HIFD_KRT5:c.556G>A commonName c.556G>A HIFD_KRT5:c.556G>A protEffect p.Val186Met HIFD_KRT5:c.556G>A phenoCommon EBS-K HIFD_KRT5:c.1550G>A commonName c.1550G>A HIFD_KRT5:c.1550G>A protEffect p.Gly517Asp HIFD_KRT5:c.1550G>A phenoCommon EBS-K HIFD_KRT5:c.1054C>A commonName c.1054C>A HIFD_KRT5:c.1054C>A protEffect p.Arg352Ser HIFD_KRT5:c.1054C>A phenoCommon EBS-WC HIFD_KRT5:c.473A>T phenoCommon EBS-K HIFD_KRT5:c.579C>T commonName c.579C>T HIFD_KRT5:c.579C>T protEffect p.Asn193Lys HIFD_KRT5:c.579C>T phenoCommon EBS-K HIFD_KRT5:c.509A>G commonName c.509A>G HIFD_KRT5:c.509A>G protEffect p.Glu170Gly HIFD_KRT5:c.509A>G phenoCommon EBS-K HIFD_KRT5:c.986A>G commonName c.986A>G HIFD_KRT5:c.986A>G protEffect p.Asn329Ser HIFD_KRT5:c.986A>G phenoCommon EBS-WC HIFD_KRT5:c.1283C>T commonName c.1283C>T HIFD_KRT5:c.1283C>T protEffect p.Ala428Val HIFD_KRT5:c.1283C>T phenoCommon EBS-K HIFD_KRT5:c.1399A>C commonName c.1399A>C HIFD_KRT5:c.1399A>C protEffect p.Ile467Leu HIFD_KRT5:c.1399A>C phenoCommon EBS-WC HIFD_KRT5:c.449T>C commonName c.449T>C HIFD_KRT5:c.449T>C protEffect p.Leu150Pro HIFD_KRT5:c.449T>C phenoCommon EBS-K HIFD_KRT5:c.1398G>C commonName c.1398G>C HIFD_KRT5:c.1398G>C protEffect p.Glu466Asp HIFD_KRT5:c.1398G>C phenoCommon EBS-K HIFD_KRT5:c.593C>G commonName c.593C>G HIFD_KRT5:c.593C>G protEffect p.Thr198Ser HIFD_KRT5:c.593C>G phenoCommon EBS-WC HIFD_KRT5:c.489G>T commonName c.489G>T HIFD_KRT5:c.489G>T protEffect p.Arg165Ser HIFD_KRT5:c.489G>T phenoCommon EBS-DM HIFD_KRT5:c.547A>G commonName c.547A>G HIFD_KRT5:c.547A>G protEffect p.Ile183Val HIFD_KRT5:c.547A>G phenoCommon EBS-WC HIFD_KRT5:c.570G>C commonName c.570G>C HIFD_KRT5:c.570G>C protEffect p.Glu190Asp HIFD_KRT5:c.570G>C phenoCommon EBS-WC HIFD_KRT5:c.991C>G commonName c.991C>G HIFD_KRT5:c.991C>G protEffect p.Arg331Gly HIFD_KRT5:c.991C>G phenoCommon EBS-WC HIFD_KRT5:c.971T>C commonName c.971T>C HIFD_KRT5:c.971T>C protEffect p.Val324Ala HIFD_KRT5:c.971T>C phenoCommon EBS-WC HIFD_KRT5:c.1432G>A commonName c.1432G>A HIFD_KRT5:c.1432G>A protEffect p.Glu478Lys HIFD_KRT5:c.1432G>A phenoCommon EBS-DM HIFD_KRT5:c.596A>T commonName c.596A>T HIFD_KRT5:c.596A>T protEffect p.Lys199Met HIFD_KRT5:c.596A>T phenoCommon EBS-WC HIFD_KRT5:c.427G>T commonName c.427G>T HIFD_KRT5:c.427G>T protEffect p.Val143Phe HIFD_KRT5:c.427G>T phenoCommon EBS-K HIFD_KRT5:c.794G>C commonName c.794G>C HIFD_KRT5:c.794G>C protEffect p.Arg265Pro HIFD_KRT5:c.794G>C phenoCommon EBS-K HIFD_KRT5:c.1437delC commonName c.1437delC HIFD_KRT5:c.1437delC protEffect p.Cys479X HIFD_KRT5:c.1437delC phenoCommon EBS-DM HIFD_KRT5:c.531_533delTAA commonName c.531_533delTAA HIFD_KRT5:c.531_533delTAA protEffect p.Asn177del HIFD_KRT5:c.531_533delTAA phenoCommon EBS-DM HIFD_KRT5:c.1730T>A commonName c.1730T>A HIFD_KRT5:c.1730T>A protEffect p.Phe577Tyr HIFD_KRT5:c.1730T>A phenoCommon EBS-K HIFD_KRT5:c.549C>G commonName c.549C>G HIFD_KRT5:c.549C>G protEffect p.Ile183Met HIFD_KRT5:c.549C>G phenoCommon EBS-DM HIFD_KRT5:c.428T>C commonName c.428T>C HIFD_KRT5:c.428T>C protEffect p.Val143Ala HIFD_KRT5:c.428T>C phenoCommon EBS-WC HIFD_KRT5:c.2T>C commonName c.2T>C HIFD_KRT5:c.2T>C protEffect p.Met1Thr HIFD_KRT5:c.2T>C phenoCommon DDD HIFD_KRT5:c.514A>G commonName c.514A>G HIFD_KRT5:c.514A>G protEffect p.Ile172Val HIFD_KRT5:c.514A>G phenoCommon EBS-K HIFD_KRT5:c.991C>A commonName c.991C>A HIFD_KRT5:c.991C>A protEffect p.Arg331Ser HIFD_KRT5:c.991C>A phenoCommon EBS-K HIFD_KRT5:c.1438A>G commonName c.1438A>G HIFD_KRT5:c.1438A>G protEffect p.Arg480Gly HIFD_KRT5:c.1438A>G phenoCommon EBS-K HIFD_KRT5:c.1636C>A commonName c.1636C>A HIFD_KRT5:c.1636C>A protEffect p.Leu546Ile HIFD_KRT5:c.1636C>A phenoCommon EBS-K HIFD_KRT5:c.568G>A phenoCommon EBS-K HIFD_KRT5:c.579C>A commonName c.579C>A HIFD_KRT5:c.579C>A protEffect p.Asn193Lys HIFD_KRT5:c.579C>A phenoCommon EBS-K HIFD_KRT5:c.991C>T phenoCommon EBS-K HIFD_KRT5:c.992G>A phenoCommon EBS-K HIFD_KRT5:c.1649delG phenoCommon EBS-MCE HIFD_KRT5:c.413G>A commonName c.413G>A HIFD_KRT5:c.413G>A protEffect p.Gly138Glu HIFD_KRT5:c.413G>A phenoCommon EBS-MP HIFD_KRT5:c.[418dupA]+[982G>C] commonName c.[418dupA]+[982G>C] HIFD_KRT5:c.[418dupA]+[982G>C] protEffect p.[Ile140AsnfsX0]+[Asp328His] HIFD_KRT5:c.[418dupA]+[982G>C] phenoCommon EBS-MP HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA commonName c.1362_1365delGGAGinsAGCTGGTA HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA protEffect p.Glu455AlafsX117 HIFD_KRT5:c.1362_1365delGGAGinsAGCTGGTA phenoCommon EBS-K HIFD_KRT5:c.1411C>T commonName c.1411C>T HIFD_KRT5:c.1411C>T protEffect p.Arg471Cys HIFD_KRT5:c.1411C>T phenoCommon EBS-K HIFD_KRT5:c.1427G>A commonName c.1427G>A HIFD_KRT5:c.1427G>A protEffect p.Gly476Asp HIFD_KRT5:c.1427G>A phenoCommon EBS-WC HIFD_KRT5:c.446T>C commonName c.446T>C HIFD_KRT5:c.446T>C protEffect p.Leu149Pro HIFD_KRT5:c.446T>C phenoCommon REBS-WC HIFD_KRT5:c.451A>C commonName c.451A>C HIFD_KRT5:c.451A>C protEffect p.Thr151Pro HIFD_KRT5:c.451A>C phenoCommon EBS-WC HIFD_KRT5:c.509A>G phenoCommon EBS-WC HIFD_KRT5:c.539C>A phenoCommon REBS-K HIFD_KRT5:c.538G>C commonName c.538G>C HIFD_KRT5:c.538G>C protEffect p.Ala180Pro HIFD_KRT5:c.538G>C phenoCommon EBS-DM HIFD_KRT5:c.596A>T phenoCommon REBS-WC HIFD_KRT5:c.968T>C phenoCommon EBS-WC HIFD_KRT5:c.560G>C commonName c.560G>C HIFD_KRT5:c.560G>C protEffect p.Arg187Pro HIFD_KRT5:c.560G>C phenoCommon EBS-WC HIFD_KRT5:c.1329G>C commonName c.1329G>C HIFD_KRT5:c.1329G>C protEffect p.Lys443Asn HIFD_KRT5:c.1329G>C phenoCommon EBS-WC HIFD_KRT5:c.1401C>G phenoCommon REBS-K HIFD_KRT5:c.1427G>A phenoCommon EPPK HIFD_KRT5:c.1474+4A>G commonName c.1474+4A>G HIFD_KRT5:c.1474+4A>G protEffect p.? HIFD_KRT5:c.1474+4A>G phenoCommon EBS-WC HIFD_KRT5:c.1635delG commonName c.1635delG HIFD_KRT5:c.1635delG protEffect p.Leu546SerfsX82 HIFD_KRT5:c.1635delG phenoCommon REBS-K HIFD_KRT5:c.10C>T commonName c.10C>T HIFD_KRT5:c.10C>T protEffect p.Gln4X HIFD_KRT5:c.10C>T phenoCommon DDD HIFD_KRT5:c.508G>A phenoCommon EBS-K HIFD_KRT5:c.495G>T commonName c.495G>T HIFD_KRT5:c.495G>T protEffect p.Arg165Ser HIFD_KRT5:c.495G>T phenoCommon EBS-DM HIFD_KRT5:c.557T>A commonName c.557T>A HIFD_KRT5:c.557T>A protEffect p.Val186Glu HIFD_KRT5:c.557T>A phenoCommon EBS-WC HIFD_KRT5:c.1282G>A commonName c.1282G>A HIFD_KRT5:c.1282G>A protEffect p.Ala428Thr HIFD_KRT5:c.1282G>A phenoCommon EBS-WC HIFD_KRT6A:c.514_516delAAC commonName c.514_516delAAC HIFD_KRT6A:c.514_516delAAC protEffect p.Asn172del HIFD_KRT6A:c.514_516delAAC phenoCommon PC-1 HIFD_KRT6A:c.521T>C commonName c.521T>C HIFD_KRT6A:c.521T>C protEffect p.Phe174Ser HIFD_KRT6A:c.521T>C phenoCommon PC-1 HIFD_KRT6A:c.513C>A commonName c.513C>A HIFD_KRT6A:c.513C>A protEffect p.Asn171Lys HIFD_KRT6A:c.513C>A phenoCommon PC-1 HIFD_KRT6A:c.520T>G commonName c.520T>G HIFD_KRT6A:c.520T>G protEffect p.Phe174Val HIFD_KRT6A:c.520T>G phenoCommon PC-1 HIFD_KRT6A:c.1406T>G commonName c.1406T>G HIFD_KRT6A:c.1406T>G protEffect p.Leu469Arg HIFD_KRT6A:c.1406T>G phenoCommon PC-1 HIFD_KRT6A:c.1414G>A commonName c.1414G>A HIFD_KRT6A:c.1414G>A protEffect p.Glu472Lys HIFD_KRT6A:c.1414G>A phenoCommon PC-1 HIFD_KRT6A:c.1385T>G commonName c.1385T>G HIFD_KRT6A:c.1385T>G protEffect p.Ile462Ser HIFD_KRT6A:c.1385T>G phenoCommon PC-1 HIFD_KRT6A:c.1390A>C commonName c.1390A>C HIFD_KRT6A:c.1390A>C protEffect p.Thr464Pro HIFD_KRT6A:c.1390A>C phenoCommon PC-1 HIFD_KRT6A:c.500T>A commonName c.500T>A HIFD_KRT6A:c.500T>A protEffect p.Ile167Asn HIFD_KRT6A:c.500T>A phenoCommon PC-1 HIFD_KRT6A:c.508C>T commonName c.508C>T HIFD_KRT6A:c.508C>T protEffect p.Leu170Phe HIFD_KRT6A:c.508C>T phenoCommon PC-1 HIFD_KRT6A:c.512A>G commonName c.512A>G HIFD_KRT6A:c.512A>G protEffect p.Asn171Ser HIFD_KRT6A:c.512A>G phenoCommon PC-1 HIFD_KRT6A:c.526T>C commonName c.526T>C HIFD_KRT6A:c.526T>C protEffect p.Ser176Pro HIFD_KRT6A:c.526T>C phenoCommon PC-1 HIFD_KRT6A:c.1385T>A commonName c.1385T>A HIFD_KRT6A:c.1385T>A protEffect p.Ile462Asn HIFD_KRT6A:c.1385T>A phenoCommon PC-1 HIFD_KRT6A:c.1403T>C commonName c.1403T>C HIFD_KRT6A:c.1403T>C protEffect p.Leu468Pro HIFD_KRT6A:c.1403T>C phenoCommon PC-1 HIFD_KRT6A:c.1406T>C commonName c.1406T>C HIFD_KRT6A:c.1406T>C protEffect p.Leu469Pro HIFD_KRT6A:c.1406T>C phenoCommon PC-1 HIFD_KRT6A:c.1410_1411ins117 commonName c.1410_1411insGATGCCCTGCAGAAGGCCAAGCAGGACCTGGCCCGGCTGCTGAAGGAGTACCAGGAGCTGATGAATGTCAAGCTGGCCCTGGACGTGGAGATCGCCACCTACCGCAAGCTGCTGGAG HIFD_KRT6A:c.1410_1411ins117 protEffect p.Glu470_Gly471ins39 HIFD_KRT6A:c.1410_1411ins117 phenoCommon PC-1 HIFD_KRT6A:c.491G>C commonName c.491G>C HIFD_KRT6A:c.491G>C protEffect p.Arg164Pro HIFD_KRT6A:c.491G>C phenoCommon PC-1 HIFD_KRT6A:c.511A>G commonName c.511A>G HIFD_KRT6A:c.511A>G protEffect p.Asn171Asp HIFD_KRT6A:c.511A>G phenoCommon PC-1 HIFD_KRT6A:c.1403T>A commonName c.1403T>A HIFD_KRT6A:c.1403T>A protEffect p.Leu468Gln HIFD_KRT6A:c.1403T>A phenoCommon PC-1 HIFD_KRT6A:c.511A>T commonName c.511A>T HIFD_KRT6A:c.511A>T protEffect p.Asn171Tyr HIFD_KRT6A:c.511A>T phenoCommon PC-1 HIFD_KRT6A:c.521T>G commonName c.521T>G HIFD_KRT6A:c.521T>G protEffect p.Phe174Cys HIFD_KRT6A:c.521T>G phenoCommon PC-1 HIFD_KRT6A:c.497A>C commonName c.497A>C HIFD_KRT6A:c.497A>C protEffect p.Gln166Pro HIFD_KRT6A:c.497A>C phenoCommon PC-1 HIFD_KRT6A:c.533T>A commonName c.533T>A HIFD_KRT6A:c.533T>A protEffect p.Ile178Asn HIFD_KRT6A:c.533T>A phenoCommon PC-1 HIFD_KRT6A:c.1387G>C commonName c.1387G>C HIFD_KRT6A:c.1387G>C protEffect p.Ala463Pro HIFD_KRT6A:c.1387G>C phenoCommon PC-1 HIFD_KRT6A:c.1393T>C commonName c.1393T>C HIFD_KRT6A:c.1393T>C protEffect p.Tyr465His HIFD_KRT6A:c.1393T>C phenoCommon PC-1 HIFD_KRT6A:c.487G>A commonName c.487G>A HIFD_KRT6A:c.487G>A protEffect p.Glu163Lys HIFD_KRT6A:c.487G>A phenoCommon PC-1 HIFD_KRT6A:c.500T>G commonName c.500T>G HIFD_KRT6A:c.500T>G protEffect p.Ile167Ser HIFD_KRT6A:c.500T>G phenoCommon PC-1 HIFD_KRT6A:c.512A>C commonName c.512A>C HIFD_KRT6A:c.512A>C protEffect p.Asn171Thr HIFD_KRT6A:c.512A>C phenoCommon PC-1 HIFD_KRT6A:c.541-1G>C commonName c.541-1G>C HIFD_KRT6A:c.541-1G>C protEffect p.? HIFD_KRT6A:c.541-1G>C phenoCommon PC-1 HIFD_KRT6A:c.541-1G>T commonName c.541-1G>T HIFD_KRT6A:c.541-1G>T protEffect p.? HIFD_KRT6A:c.541-1G>T phenoCommon PC-1 HIFD_KRT6A:c.541-2A>C commonName c.541-2A>C HIFD_KRT6A:c.541-2A>C protEffect p.? HIFD_KRT6A:c.541-2A>C phenoCommon PC-1 HIFD_KRT6A:c.541-2A>G commonName c.541-2A>G HIFD_KRT6A:c.541-2A>G protEffect p.? HIFD_KRT6A:c.541-2A>G phenoCommon PC-1 HIFD_KRT6A:c.1303C>T commonName c.1303C>T HIFD_KRT6A:c.1303C>T protEffect p.Gln435X HIFD_KRT6A:c.1303C>T phenoCommon PC-1 HIFD_KRT6A:c.1381G>A commonName c.1381G>A HIFD_KRT6A:c.1381G>A protEffect p.Glu461Lys HIFD_KRT6A:c.1381G>A phenoCommon PC-1 HIFD_KRT6A:c.1381G>C commonName c.1381G>C HIFD_KRT6A:c.1381G>C protEffect p.Glu461Gln HIFD_KRT6A:c.1381G>C phenoCommon PC-1 HIFD_KRT6A:c.1394A>G commonName c.1394A>G HIFD_KRT6A:c.1394A>G protEffect p.Tyr465Cys HIFD_KRT6A:c.1394A>G phenoCommon PC-1 HIFD_KRT6A:c.1416G>C commonName c.1416G>C HIFD_KRT6A:c.1416G>C protEffect p.Glu472Asp HIFD_KRT6A:c.1416G>C phenoCommon PC-1 HIFD_KRT6A:c.1511_1512insG commonName c.1511_1512insG HIFD_KRT6A:c.1511_1512insG protEffect p.Ser505GlnfsX59 HIFD_KRT6A:c.1511_1512insG phenoCommon PC-1 HIFD_KRT6B:c.1414G>A commonName c.1414G>A HIFD_KRT6B:c.1414G>A protEffect p.Glu472Lys HIFD_KRT6B:c.1414G>A phenoCommon PC-2 HIFD_KRT6B:c.516_518delCAA commonName c.516_518delCAA HIFD_KRT6B:c.516_518delCAA protEffect p.Asn172del HIFD_KRT6B:c.516_518delCAA phenoCommon PC-2 HIFD_KRT6B:c.1381G>A commonName c.1381G>A HIFD_KRT6B:c.1381G>A protEffect p.Glu461Lys HIFD_KRT6B:c.1381G>A phenoCommon PC-2 HIFD_KRT6C:c.513_515delCAA commonName c.513_515delCAA HIFD_KRT6C:c.513_515delCAA protEffect p.Asn172del HIFD_KRT6C:c.513_515delCAA phenoCommon FNEPPK HIFD_KRT6C:c.1384_1410del27 commonName c.1384_1410delATCGCCACCTACCGCAAGCTGCTGGAG HIFD_KRT6C:c.1384_1410del27 protEffect p.Ile462_Glu470del HIFD_KRT6C:c.1384_1410del27 phenoCommon FNEPPK HIFD_KRT74:c.444C>G commonName c.444C>G HIFD_KRT74:c.444C>G protEffect p.Asn148Lys HIFD_KRT74:c.444C>G phenoCommon ADWH HIFD_KRT74:c.1444G>A commonName c.1444G>A HIFD_KRT74:c.1444G>A protEffect p.Asp482Asn HIFD_KRT74:c.1391-1G>A commonName c.1391-1G>A HIFD_KRT74:c.1391-1G>A protEffect p.? HIFD_KRT74:c.1391-1G>A phenoCommon ADWH HIFD_KRT8:c.160T>C commonName c.160T>C HIFD_KRT8:c.160T>C protEffect p.Tyr54His HIFD_KRT8:c.184G>T commonName c.184G>T HIFD_KRT8:c.184G>T protEffect p.Gly62Cys HIFD_KRT8:c.158G>T commonName c.158G>T HIFD_KRT8:c.158G>T protEffect p.Gly53Val HIFD_KRT8:c.184G>T phenoCommon IBD HIFD_KRT8:c.187A>G commonName c.187A>G HIFD_KRT8:c.187A>G protEffect p.Ile63Val HIFD_KRT8:c.187A>G phenoCommon IBD HIFD_KRT8:c.1392G>T commonName c.1392G>T HIFD_KRT8:c.1392G>T protEffect p.Lys464Asn HIFD_KRT8:c.1392G>T phenoCommon IBD HIFD_KRT8:c.1022G>A commonName c.1022G>A HIFD_KRT8:c.1022G>A protEffect p.Arg341His HIFD_KRT8:c.1300G>A commonName c.1300G>A HIFD_KRT8:c.1300G>A protEffect p.Gly434Ser HIFD_KRT8:c.1360C>T commonName c.1360C>T HIFD_KRT8:c.1360C>T protEffect p.Arg454Cys HIFD_KRT8:c.1399_1399insC commonName c.1399_1399insC HIFD_KRT8:c.1399_1399insC protEffect p.Glu467ArgfsX4 HIFD_KRT8:c.1128G>A commonName c.1128G>A HIFD_KRT8:c.1128G>A protEffect p.= HIFD_KRT8:c.1138G>A commonName c.1138G>A HIFD_KRT8:c.1138G>A protEffect p.Val380Ile HIFD_KRT8:c.77C>G commonName c.77C>G HIFD_KRT8:c.77C>G protEffect p.Thr26Arg HIFD_KRT8:c.164G>C commonName c.164G>C HIFD_KRT8:c.164G>C protEffect p.Gly55Ala HIFD_KRT8:c.1022G>A phenoCommon IBD HIFD_KRT8:c.1021C>T commonName c.1021C>T HIFD_KRT8:c.1021C>T protEffect p.Arg341Cys HIFD_KRT8:c.1021C>T phenoCommon IBD HIFD_KRT8:c.184G>T phenoCommon PBC HIFD_KRT8:c.1022G>A phenoCommon PBC HIFD_KRT8:c.1138G>A phenoCommon PBC HIFD_KRT8:c.1202+46A>T commonName c.1202+46A>T HIFD_KRT8:c.1202+46A>T protEffect p.= HIFD_KRT81:c.1204G>A commonName c.1204G>A HIFD_KRT81:c.1204G>A protEffect p.Glu402Lys HIFD_KRT81:c.1237G>A commonName c.1237G>A HIFD_KRT81:c.1237G>A protEffect p.Glu413Lys HIFD_KRT83:c.1219G>A commonName c.1219G>A HIFD_KRT83:c.1219G>A protEffect p.Glu407Lys HIFD_KRT85:c.233G>A commonName c.233G>A HIFD_KRT85:c.233G>A protEffect p.Arg78His HIFD_KRT86:c.1239G>T commonName c.1239G>T HIFD_KRT86:c.1239G>T protEffect p.Glu413Asp HIFD_KRT86:c.1237G>A commonName c.1237G>A HIFD_KRT86:c.1237G>A protEffect p.Glu413Lys HIFD_KRT86:c.1204G>A commonName c.1204G>A HIFD_KRT86:c.1204G>A protEffect p.Glu402Lys HIFD_KRT86:c.340A>G commonName c.340A>G HIFD_KRT86:c.340A>G protEffect p.Asn114Asp HIFD_KRT86:c.340A>C commonName c.340A>C HIFD_KRT86:c.340A>C protEffect p.Asn114His HIFD_KRT86:c.1204G>C commonName c.1204G>C HIFD_KRT86:c.1204G>C protEffect p.Glu402Gln HIFD_KRT86:c.353C>A commonName c.353C>A HIFD_KRT86:c.353C>A protEffect p.Ala118Glu HIFD_DES:c.1009G>C commonName c.1009G>C HIFD_DES:c.1009G>C protEffect p.Ala337Pro HIFD_DES:c.[1078G>C; 1178A>T] commonName c.[1078G>C; 1178A>T] HIFD_DES:c.[1078G>C; 1178A>T] protEffect p.[Ala360Pro; Asn393Ile] HIFD_DES:c.517_537del21 commonName c.517_537delCGCGCGCGCGTCGACGTCGAG HIFD_DES:c.517_537del21 protEffect p.Arg173_Glu179del HIFD_DES:c.1353C>G commonName c.1353C>G HIFD_DES:c.1353C>G protEffect p.Ile451Met HIFD_DES:c.1353C>G phenoCommon CMD1I HIFD_DES:c.1034T>C commonName c.1034T>C HIFD_DES:c.1034T>C protEffect p.Leu345Pro HIFD_DES:c.1024A>G commonName c.1024A>G HIFD_DES:c.1024A>G protEffect p.Asn342Asp HIFD_DES:c.1216C>T commonName c.1216C>T HIFD_DES:c.1216C>T protEffect p.Arg406Trp HIFD_DES:c.735+3A>G commonName c.735+3A>G HIFD_DES:c.735+3A>G protEffect p.Asp214_Glu245del HIFD_DES:c.1154T>C commonName c.1154T>C HIFD_DES:c.1154T>C protEffect p.Leu385Pro HIFD_DES:c.640-1G>A commonName c.640-1G>A HIFD_DES:c.640-1G>A protEffect p.Asp214_Glu245del HIFD_DES:c.1166A>C commonName c.1166A>C HIFD_DES:c.1166A>C protEffect p.Gln389Pro HIFD_DES:c.720_721insA commonName c.720_721insA HIFD_DES:c.720_721insA protEffect p.Lys241GlufsX4 HIFD_DES:c.1069G>C commonName c.1069G>C HIFD_DES:c.1069G>C protEffect p.Ala357Pro HIFD_DES:c.1109T>C commonName c.1109T>C HIFD_DES:c.1109T>C protEffect p.Leu370Pro HIFD_DES:c.1075_1083delGAGGCCAGT commonName c.1075_1083delGAGGCCAGT HIFD_DES:c.1075_1083delGAGGCCAGT protEffect p.Glu359_Ser361del HIFD_DES:c.1096_1098delAAC commonName c.1096_1098delAAC HIFD_DES:c.1096_1098delAAC protEffect p.Asn366del HIFD_DES:c.5G>T commonName c.5G>T HIFD_DES:c.5G>T protEffect p.Ser2Ile HIFD_DES:c.137C>T commonName c.137C>T HIFD_DES:c.137C>T protEffect p.Ser46Phe HIFD_DES:c.137C>A commonName c.137C>A HIFD_DES:c.137C>A protEffect p.Ser46Tyr HIFD_DES:c.1346A>C commonName c.1346A>C HIFD_DES:c.1346A>C protEffect p.Lys449Thr HIFD_DES:c.735G>C commonName c.735G>C HIFD_DES:c.735G>C protEffect p.Glu245Asp HIFD_DES:c.1049G>C commonName c.1049G>C HIFD_DES:c.1049G>C protEffect p.Arg350Pro HIFD_DES:c.1064G>C commonName c.1064G>C HIFD_DES:c.1064G>C protEffect p.Arg355Pro HIFD_DES:c.1405G>A commonName c.1405G>A HIFD_DES:c.1405G>A protEffect p.Val469Met HIFD_DES:c.1237G>A commonName c.1237G>A HIFD_DES:c.1237G>A protEffect p.Glu413Lys HIFD_DES:c.1237G>A phenoCommon RCM2 HIFD_DES:c.1126C>T commonName c.1126C>T HIFD_DES:c.1126C>T protEffect p.Arg406Trp HIFD_DES:c.46C>T commonName c.46C>T HIFD_DES:c.46C>T protEffect p.Arg16Cys HIFD_DES:c.1358C>T commonName c.1358C>T HIFD_DES:c.1358C>T protEffect p.Thr453Ile HIFD_DES:c.735+2_735+11delTATACCTTGG commonName c.735+2_735+11delTATACCTTGG HIFD_DES:c.735+2_735+11delTATACCTTGG protEffect p.? HIFD_DES:c.1325C>T commonName c.1325C>T HIFD_DES:c.1325C>T protEffect p.Thr442Ile HIFD_DES:c.1360C>T commonName c.1360C>T HIFD_DES:c.1360C>T protEffect p.Arg454Trp HIFD_DES:c.1379G>T commonName c.1379G>T HIFD_DES:c.1379G>T protEffect p.Ser460Ile HIFD_DES:c.638C>T commonName c.638C>T HIFD_DES:c.638C>T protEffect p.Ala213Val HIFD_DES:c.1013T>G commonName c.1013T>G HIFD_DES:c.1013T>G protEffect p.Leu338Arg HIFD_DES:c.1195G>T commonName c.1195G>T HIFD_DES:c.1195G>T protEffect p.Asp399Tyr HIFD_DES:c.1201G>A commonName c.1201G>A HIFD_DES:c.1201G>A protEffect p.Glu401Lys HIFD_DES:c.322G>A commonName c.322G>A HIFD_DES:c.322G>A protEffect p.Glu108Lys HIFD_DES:c.322G>A phenoCommon DCM-CD HIFD_DES:c.893C>T commonName c.893C>T HIFD_DES:c.893C>T protEffect p.Ser298Leu HIFD_DES:c.893C>T phenoCommon DCM-CD HIFD_DES:c.934G>A commonName c.934G>A HIFD_DES:c.934G>A protEffect p.Asp312Asn HIFD_DES:c.934G>A phenoCommon CMD1A HIFD_DES:c.1048C>T commonName c.1048C>T HIFD_DES:c.1048C>T protEffect p.Arg350Trp HIFD_DES:c.1048C>T phenoCommon CMD1A HIFD_DES:c.1375G>A commonName c.1375G>A HIFD_DES:c.1375G>A protEffect p.Val459Ile HIFD_DES:c.1375G>A phenoCommon CMD1A HIFD_DES:c.1255C>T commonName c.1255C>T HIFD_DES:c.1255C>T protEffect p.Pro419Ser HIFD_DES:c.1175T>C commonName c.1175T>C HIFD_DES:c.1175T>C protEffect p.Leu392Pro HIFD_DES:c.1099A>T commonName c.1099A>T HIFD_DES:c.1099A>T protEffect p.Ile367Phe HIFD_DES:c.38C>T commonName c.38C>T HIFD_DES:c.38C>T protEffect p.Ser13Phe HIFD_DES:c.640-2A>G commonName c.640-2A>G HIFD_DES:c.640-2A>G protEffect p.? HIFD_DES:c.640-2A>G phenoCommon CMD1A HIFD_DES:c.638C>T phenoCommon CMD1A HIFD_DES:c.640-2A>G phenoCommon RCM2 HIFD_DES:c.340_342delGAG commonName c.340_342delGAG HIFD_DES:c.340_342delGAG protEffect p.Glu114del HIFD_DES:c.821T>C commonName c.821T>C HIFD_DES:c.821T>C protEffect p.Leu274Pro HIFD_DES:c.35C>T commonName c.35C>T HIFD_DES:c.35C>T protEffect p.Ser12Phe HIFD_DES:c.1370A>T commonName c.1370A>T HIFD_DES:c.1370A>T protEffect p.Glu457Val HIFD_DES:c.821T>G commonName c.821T>G HIFD_DES:c.821T>G protEffect p.Leu274Arg HIFD_DES:c.338_339delAG commonName c.338_339delAG HIFD_DES:c.338_339delAG protEffect p.Gln113ArgfsX115 HIFD_DES:c.1333A>G commonName c.1333A>G HIFD_DES:c.1333A>G protEffect p.Thr445Ala HIFD_DES:c.347A>G commonName c.347A>G HIFD_DES:c.347A>G protEffect p.Asn116Ser HIFD_DES:c.347A>G phenoCommon ARVD7 HIFD_GFAP:c.235C>T commonName c.235C>T HIFD_GFAP:c.235C>T protEffect p.Arg79Cys HIFD_GFAP:c.715C>T commonName c.715C>T HIFD_GFAP:c.715C>T protEffect p.Arg239Cys HIFD_GFAP:c.716G>A commonName c.716G>A HIFD_GFAP:c.716G>A protEffect p.Arg239His HIFD_GFAP:c.773G>C commonName c.773G>C HIFD_GFAP:c.773G>C protEffect p.Arg258Pro HIFD_GFAP:c.1246C>T commonName c.1246C>T HIFD_GFAP:c.1246C>T protEffect p.Arg416Trp HIFD_GFAP:c.236G>A commonName c.236G>A HIFD_GFAP:c.236G>A protEffect p.Arg79His HIFD_GFAP:c.[140C>T; 715C>T] commonName c.[140C>T; 715C>T] HIFD_GFAP:c.[140C>T; 715C>T] protEffect p.[Pro47Leu; Arg239Cys] HIFD_GFAP:c.226C>T commonName c.226C>T HIFD_GFAP:c.226C>T protEffect p.Leu76Phe HIFD_GFAP:c.229A>T commonName c.229A>T HIFD_GFAP:c.229A>T protEffect p.Asn77Tyr HIFD_GFAP:c.262C>T commonName c.262C>T HIFD_GFAP:c.262C>T protEffect p.Arg88Cys HIFD_GFAP:c.262C>A commonName c.262C>A HIFD_GFAP:c.262C>A protEffect p.Arg88Ser HIFD_GFAP:c.731C>T commonName c.731C>T HIFD_GFAP:c.731C>T protEffect p.Ala244Val HIFD_GFAP:c.260T>G commonName c.260T>G HIFD_GFAP:c.260T>G protEffect p.Val87Gly HIFD_GFAP:c.218T>G commonName c.218T>G HIFD_GFAP:c.218T>G protEffect p.Met73Arg HIFD_GFAP:c.235C>G commonName c.235C>G HIFD_GFAP:c.235C>G protEffect p.Arg79Gly HIFD_GFAP:c.724T>G commonName c.724T>G HIFD_GFAP:c.724T>G protEffect p.Tyr242Asp HIFD_GFAP:c.1117G>A commonName c.1117G>A HIFD_GFAP:c.1117G>A protEffect p.Glu373Lys HIFD_GFAP:c.1086G>C commonName c.1086G>C HIFD_GFAP:c.1086G>C protEffect p.Glu362Asp HIFD_GFAP:c.290T>C commonName c.290T>C HIFD_GFAP:c.290T>C protEffect p.Leu97Pro HIFD_GFAP:c.716G>C commonName c.716G>C HIFD_GFAP:c.716G>C protEffect p.Arg239Pro HIFD_GFAP:c.827G>T commonName c.827G>T HIFD_GFAP:c.827G>T protEffect p.Arg276Leu HIFD_GFAP:c.236G>T commonName c.236G>T HIFD_GFAP:c.236G>T protEffect p.Arg79Leu HIFD_GFAP:c.667G>C commonName c.667G>C HIFD_GFAP:c.667G>C protEffect p.Glu223Gln HIFD_GFAP:c.248C>A commonName c.248C>A HIFD_GFAP:c.248C>A protEffect p.Asp78Glu HIFD_GFAP:c.1055T>C commonName c.1055T>C HIFD_GFAP:c.1055T>C protEffect p.Leu352Pro HIFD_GFAP:c.269T>C commonName c.269T>C HIFD_GFAP:c.269T>C protEffect p.Leu90Pro HIFD_GFAP:c.992T>C commonName c.992T>C HIFD_GFAP:c.992T>C protEffect p.Leu331Pro HIFD_GFAP:c.187A>C commonName c.187A>C HIFD_GFAP:c.187A>C protEffect p.Lys63Gln HIFD_GFAP:c.226C>G commonName c.226C>G HIFD_GFAP:c.226C>G protEffect p.Leu76Val HIFD_GFAP:c.230A>G commonName c.230A>G HIFD_GFAP:c.230A>G protEffect p.Asn77Ser HIFD_GFAP:c.619G>A commonName c.619G>A HIFD_GFAP:c.619G>A protEffect p.Glu207Lys HIFD_GFAP:c.619G>C commonName c.619G>C HIFD_GFAP:c.619G>C protEffect p.Glu207Gln HIFD_GFAP:c.628G>A commonName c.628G>A HIFD_GFAP:c.628G>A protEffect p.Glu210Lys HIFD_GFAP:c.704T>C commonName c.704T>C HIFD_GFAP:c.704T>C protEffect p.Leu235Pro HIFD_GFAP:c.758C>G commonName c.758C>G HIFD_GFAP:c.758C>G protEffect p.Ala253Gly HIFD_GFAP:c.835A>G commonName c.835A>G HIFD_GFAP:c.835A>G protEffect p.Lys279Glu HIFD_GFAP:c.1075C>G commonName c.1075C>G HIFD_GFAP:c.1075C>G protEffect p.Leu359Val HIFD_GFAP:c.1090G>C commonName c.1090G>C HIFD_GFAP:c.1090G>C protEffect p.Ala364Pro HIFD_GFAP:c.1096T>C commonName c.1096T>C HIFD_GFAP:c.1096T>C protEffect p.Tyr366His HIFD_GFAP:c.1117G>C commonName c.1117G>C HIFD_GFAP:c.1117G>C protEffect p.Glu373Gln HIFD_GFAP:c.1121A>G commonName c.1121A>G HIFD_GFAP:c.1121A>G protEffect p.Glu374Gly HIFD_GFAP:c.343G>T commonName c.343G>T HIFD_GFAP:c.343G>T protEffect p.Val115Phe HIFD_GFAP:c.343G>A commonName c.343G>A HIFD_GFAP:c.343G>A protEffect p.Val115Ile HIFD_GFAP:c.1112A>G commonName c.1112A>G HIFD_GFAP:c.1112A>G protEffect p.Glu371Gly HIFD_GFAP:c.208C>T commonName c.208C>T HIFD_GFAP:c.208C>T protEffect p.Arg70Trp HIFD_GFAP:c.256_259delAAGGinsGAGT commonName c.256_259delAAGGinsGAGT HIFD_GFAP:c.256_259delAAGGinsGAGT protEffect p.Lys86_Val87delinsGluPhe HIFD_GFAP:c.1157A>T commonName c.1157A>T HIFD_GFAP:c.1157A>T protEffect p.Asn386Ile HIFD_GFAP:c.716G>T commonName c.716G>T HIFD_GFAP:c.716G>T protEffect p.Arg239Leu HIFD_GFAP:c.1178G>T commonName c.1178G>T HIFD_GFAP:c.1178G>T protEffect p.Ser393Ile HIFD_GFAP:c.[799G>C]+[*28C>G] commonName c.[799G>C]+[*28C>G] HIFD_GFAP:c.[799G>C]+[*28C>G] protEffect p.[Ala267Pro]+[=] HIFD_GFAP:c.1079A>T commonName c.1079A>T HIFD_GFAP:c.1079A>T protEffect p.Asp360Val HIFD_GFAP:c.1097A>G commonName c.1097A>G HIFD_GFAP:c.1097A>G protEffect p.Tyr366Cys HIFD_GFAP:c.1091C>T commonName c.1091C>T HIFD_GFAP:c.1091C>T protEffect p.Ala364Val HIFD_GFAP:c.221T>C commonName c.221T>C HIFD_GFAP:c.221T>C protEffect p.Met74Thr HIFD_GFAP:c.770A>G commonName c.770A>G HIFD_GFAP:c.770A>G protEffect p.Tyr257Cys HIFD_GFAP:c.1247_1249delGGGinsGG commonName c.1247_1249delGGGinsGG HIFD_GFAP:c.1247_1249delGGGinsGG protEffect p.Asp417MetfsX15 HIFD_GFAP:c.247T>C commonName c.247T>C HIFD_GFAP:c.247T>C protEffect p.Tyr83His HIFD_GFAP:c.613G>A commonName c.613G>A HIFD_GFAP:c.613G>A protEffect p.Glu205Lys HIFD_GFAP:c.1193C>A commonName c.1193C>A HIFD_GFAP:c.1193C>A protEffect p.Ser398Tyr HIFD_GFAP:c.382G>A commonName c.382G>A HIFD_GFAP:c.382G>A protEffect p.Asp128Asn HIFD_GFAP:c.209G>A commonName c.209G>A HIFD_GFAP:c.209G>A protEffect p.Arg70Gln HIFD_GFAP:c.218T>A commonName c.218T>A HIFD_GFAP:c.218T>A protEffect p.Met73Lys HIFD_GFAP:c.236G>C commonName c.236G>C HIFD_GFAP:c.236G>C protEffect p.Arg79Pro HIFD_GFAP:c.1076T>C commonName c.1076T>C HIFD_GFAP:c.1076T>C protEffect p.Leu359Pro HIFD_GFAP:c.469G>A commonName c.469G>A HIFD_GFAP:c.469G>A protEffect p.Asp157Asn HIFD_GFAP:c.1126C>T commonName c.1126C>T HIFD_GFAP:c.1126C>T protEffect p.Arg376Trp HIFD_GFAP:c.141G>A commonName c.141G>A HIFD_GFAP:c.141G>A protEffect p.= HIFD_GFAP:c.759C>T commonName c.759C>T HIFD_GFAP:c.759C>T protEffect p.= HIFD_GFAP:c.988C>G commonName c.988C>G HIFD_GFAP:c.988C>G protEffect p.Arg330Gly HIFD_GFAP:c.994G>A commonName c.994G>A HIFD_GFAP:c.994G>A protEffect p.Glu332Lys HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] commonName c.[236G>A; =]+[=; 667G>C] HIFD_GFAP:c.[236G>A; =]+[=; 667G>C] protEffect p.[Arg79His; =]+[=; Glu223Gln] HIFD_GFAP:c.1070C>T commonName c.1070C>T HIFD_GFAP:c.1070C>T protEffect p.Pro357Leu HIFD_GFAP:c.302T>C commonName c.302T>C HIFD_GFAP:c.302T>C protEffect p.Leu101Pro HIFD_GFAP:c.1148C>T commonName c.1148C>T HIFD_GFAP:c.1148C>T protEffect p.Thr383Ile HIFD_GFAP:c.716G>T phenoCommon APL HIFD_GFAP:c.259G>C commonName c.259G>C HIFD_GFAP:c.259G>C protEffect p.Val87Leu HIFD_GFAP:c.739T>C commonName c.739T>C HIFD_GFAP:c.739T>C protEffect p.Ser247Pro HIFD_GFAP:c.1250A>C commonName c.1250A>C HIFD_GFAP:c.1250A>C protEffect p.Asp417Ala HIFD_GFAP:c.1277A>T commonName c.1277A>T HIFD_GFAP:c.1277A>T protEffect p.Gln426Leu HIFD_GFAP:c.211G>A commonName c.211G>A HIFD_GFAP:c.211G>A protEffect p.Arg66Gln HIFD_GFAP:c.214G>A commonName c.214G>A HIFD_GFAP:c.214G>A protEffect p.Glu72Lys HIFD_GFAP:c.235C>A commonName c.235C>A HIFD_GFAP:c.235C>A protEffect p.Arg79Ser HIFD_GFAP:c.257A>G commonName c.257A>G HIFD_GFAP:c.257A>G protEffect p.Lys86Glu HIFD_GFAP:c.707A>C commonName c.707A>C HIFD_GFAP:c.707A>C protEffect p.Lys236Thr HIFD_GFAP:c.1111G>C commonName c.1111G>C HIFD_GFAP:c.1111G>C protEffect p.Glu371Gln HIFD_GFAP:c.1112A>T commonName c.1112A>T HIFD_GFAP:c.1112A>T protEffect p.Glu371Val HIFD_GFAP:c.1126C>G commonName c.1126C>G HIFD_GFAP:c.1126C>G protEffect p.Arg376Gly HIFD_GFAP:c.1140C>T commonName c.1140C>T HIFD_GFAP:c.1140C>T protEffect p.Arg376Trp HIFD_PRPH:c.229delC commonName c.229delC HIFD_PRPH:c.229delC protEffect p.Arg77AlafsX53 HIFD_PRPH:c.229delC phenoCommon ALS1 HIFD_PRPH:c.398G>C commonName c.398G>C HIFD_PRPH:c.398G>C protEffect p.Arg133Pro HIFD_PRPH:c.398G>C phenoCommon ALS1 HIFD_PRPH:c.421G>T commonName c.421G>T HIFD_PRPH:c.421G>T protEffect p.Asp141Tyr HIFD_PRPH:c.421G>T phenoCommon ALS1 HIFD_PRPH:c.703-13C>T commonName c.703-13C>T HIFD_PRPH:c.703-13C>T protEffect p.= HIFD_PRPH:c.703-13C>T phenoCommon ALS1 HIFD_PRPH:c.547T>C commonName c.547T>C HIFD_PRPH:c.547T>C protEffect p.= HIFD_PRPH:c.547T>C phenoCommon ALS1 HIFD_PRPH:c.870+12G>A commonName c.870+12G>A HIFD_PRPH:c.870+12G>A protEffect p.= HIFD_PRPH:c.870+12G>A phenoCommon ALS1 HIFD_PRPH:c.1217+34G>A commonName c.1217+34G>A HIFD_PRPH:c.1217+34G>A protEffect p.= HIFD_PRPH:c.1217+34G>A phenoCommon ALS1 HIFD_PRPH:c.-24G>C commonName c.-24G>C HIFD_PRPH:c.-24G>C protEffect p.= HIFD_PRPH:c.-24G>C phenoCommon ALS1 HIFD_VIM:c.451G>A commonName c.451G>A HIFD_VIM:c.451G>A protEffect p.Glu151Lys HIFD_VIM:c.451G>A phenoCommon ADC HIFD_NEF3:c.1006G>A commonName c.1006G>A HIFD_NEF3:c.1006G>A protEffect p.Gly336Ser HIFD_NEF3:c.1006G>A phenoCommon PD HIFD_NEF3:c.104T>A commonName c.104T>A HIFD_NEF3:c.104T>A protEffect p.Phe35Tyr HIFD_NEF3:c.104T>A phenoCommon ALS1 HIFD_NEF3:c.837C>A commonName c.837C>A HIFD_NEF3:c.837C>A protEffect p.Ser279Arg HIFD_NEF3:c.837C>A phenoCommon ALS1 HIFD_NEF3:c.1423G>A commonName c.1423G>A HIFD_NEF3:c.1423G>A protEffect p.Ala475Thr HIFD_NEF3:c.1423G>A phenoCommon ALS1 HIFD_NEF3:c.2089G>C commonName c.2089G>C HIFD_NEF3:c.2089G>C protEffect p.Gly697Arg HIFD_NEF3:c.2089G>C phenoCommon ALS1 HIFD_NEF3:c.2263G>T commonName c.2263G>T HIFD_NEF3:c.2263G>T protEffect p.Val755Leu HIFD_NEF3:c.2263G>T phenoCommon ALS1 HIFD_NEF3:c.2572G>A commonName c.2572G>A HIFD_NEF3:c.2572G>A protEffect p.Val858Ile HIFD_NEF3:c.2572G>A phenoCommon ALS1 HIFD_NEF3:c.2153T>C commonName c.2153T>C HIFD_NEF3:c.2153T>C protEffect p.Val718Ala HIFD_NEF3:c.2153T>C phenoCommon ALS1 HIFD_NEFH:c.2368_2370delAAG commonName c.2368_2370delAAG HIFD_NEFH:c.2368_2370delAAG protEffect p.Lys790del HIFD_NEFH:c.2368_2370delAAG phenoCommon ALS1 HIFD_NEFH:c.1582_1683del102 commonName c.1582_1683delGCTGAGGCCAAGTCCCCAGAGAAGGAGGAAGCAAAATCCCCAGCCGAAGTCAAGTCCCCTGAGAAGGCCAAGTCTCCAGCAAAGGAAGAGGCAAAGTCACCG HIFD_NEFH:c.1582_1683del102 protEffect p.Ala528_Pro561del HIFD_NEFH:c.1582_1683del102 phenoCommon ALS1 HIFD_NEFH:c.2124_2125ins84 commonName c.2124_2125insAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCCAAGTCCCCAGTGAAGGAAGAAGCAAAGTCCCCTGAGAAGGCC HIFD_NEFH:c.2124_2125ins84 protEffect p.Ala708_Lys709ins28 HIFD_NEFH:c.2124_2125ins84 phenoCommon ALS1 HIFD_NEFH:c.1965_1988del24 commonName c.1965_1988delAGAGAAGGAAGAGGCCAAGTCCCC HIFD_NEFH:c.1965_1988del24 protEffect p.Glu656_Pro663del HIFD_NEFH:c.1965_1988del24 phenoCommon ALS1 HIFD_NEFH:c.1989_2006del18 commonName c.1989_2006delTGAGAAGGCCAAGTCCCC HIFD_NEFH:c.1989_2006del18 protEffect p.Glu664_Pro669del HIFD_NEFH:c.1989_2006del18 phenoCommon ALS1 HIFD_NEFH:c.1989_2030del42 commonName c.1989_2030delTGAGAAGGCCAAGTCCCCAGTGAAGGCAGAAGCAAAGTCCCC HIFD_NEFH:c.1989_2030del42 protEffect p.Glu664_Pro677del HIFD_NEFH:c.1989_2030del42 phenoCommon ALS1 HIFD_NEFH:c.2230_2247del18 commonName c.2230_2247delGCCAAGTCCCCAGAGAAG HIFD_NEFH:c.2230_2247del18 protEffect p.Ala744_Lys749del HIFD_NEFH:c.2230_2247del18 phenoCommon ALS1 HIFD_NEFH:c.1554A>C commonName c.1554A>C HIFD_NEFH:c.1554A>C protEffect p.= HIFD_NEFH:c.1554A>C phenoCommon NIFID HIFD_NEFH:c.1629A>G commonName c.1629A>G HIFD_NEFH:c.1629A>G protEffect p.= HIFD_NEFH:c.1629A>G phenoCommon NIFID HIFD_NEFH:c.1836A>C commonName c.1836A>C HIFD_NEFH:c.1836A>C protEffect p.= HIFD_NEFH:c.1836A>C phenoCommon NIFID HIFD_NEFH:c.1878A>C commonName c.1878A>C HIFD_NEFH:c.1878A>C protEffect p.= HIFD_NEFH:c.1878A>C phenoCommon NIFID HIFD_NEFH:c.269C>T commonName c.269C>T HIFD_NEFH:c.269C>T protEffect p.Ala90Val HIFD_NEFH:c.269C>T phenoCommon ALS1 HIFD_NEFH:c.745G>A commonName c.745G>A HIFD_NEFH:c.745G>A protEffect p.Gly249Ser HIFD_NEFH:c.745G>A phenoCommon ALS1 HIFD_NEFH:c.1054C>A commonName c.1054C>A HIFD_NEFH:c.1054C>A protEffect p.Arg352Ser HIFD_NEFH:c.1054C>A phenoCommon ALS1 HIFD_NEFH:c.1138G>A commonName c.1138G>A HIFD_NEFH:c.1138G>A protEffect p.Ala380Thr HIFD_NEFH:c.1138G>A phenoCommon ALS1 HIFD_NEFL:c.1402G>A commonName c.1402G>A HIFD_NEFL:c.1402G>A protEffect p.Asp468Asn HIFD_NEFL:c.1402G>A phenoCommon ALS1 HIFD_NEFL:c.995A>C commonName c.995A>C HIFD_NEFL:c.995A>C protEffect p.Gln332Pro HIFD_NEFL:c.995A>C phenoCommon CMT2 HIFD_NEFL:c.22_23delCCinsAG commonName c.22_23delCCinsAG HIFD_NEFL:c.22_23delCCinsAG protEffect p.Pro8Arg HIFD_NEFL:c.22_23delCCinsAG phenoCommon CMT2E HIFD_NEFL:c.64C>A commonName c.64C>A HIFD_NEFL:c.64C>A protEffect p.Pro22Thr HIFD_NEFL:c.64C>A phenoCommon CMT1 HIFD_NEFL:c.293A>G commonName c.293A>G HIFD_NEFL:c.293A>G protEffect p.Asn98Ser HIFD_NEFL:c.293A>G phenoCommon CMT1 HIFD_NEFL:c.446C>T commonName c.446C>T HIFD_NEFL:c.446C>T protEffect p.Ala149Val HIFD_NEFL:c.446C>T phenoCommon CMT1 HIFD_NEFL:c.64C>T commonName c.64C>T HIFD_NEFL:c.64C>T protEffect p.Pro22Ser HIFD_NEFL:c.64C>T phenoCommon CMT2 HIFD_NEFL:c.23C>G commonName c.23C>G HIFD_NEFL:c.23C>G protEffect p.Pro8Arg HIFD_NEFL:c.23C>G phenoCommon CMT1 HIFD_NEFL:c.23C>T commonName c.23C>T HIFD_NEFL:c.23C>T protEffect p.Pro8Leu HIFD_NEFL:c.23C>T phenoCommon CMT1 HIFD_NEFL:c.23C>A commonName c.23C>A HIFD_NEFL:c.23C>A protEffect p.Pro8Gln HIFD_NEFL:c.23C>A phenoCommon CMT1 HIFD_NEFL:c.1579_1581delGAG commonName c.1579_1581delGAG HIFD_NEFL:c.1579_1581delGAG protEffect p.Glu527del HIFD_NEFL:c.1579_1581delGAG phenoCommon CMT1 HIFD_NEFL:c.19G>A commonName c.19G>A HIFD_NEFL:c.19G>A protEffect p.Glu7Lys HIFD_NEFL:c.19G>A phenoCommon CMT1 HIFD_NEFL:c.268G>A commonName c.268G>A HIFD_NEFL:c.268G>A protEffect p.Glu90Lys HIFD_NEFL:c.268G>A phenoCommon CMT1 HIFD_NEFL:c.1189G>A commonName c.1189G>A HIFD_NEFL:c.1189G>A protEffect p.Glu397Lys HIFD_NEFL:c.1189G>A phenoCommon CMT2E HIFD_NEFL:c.64C>T phenoCommon CMT2E HIFD_NEFL:c.1189G>A phenoCommon CMT1F HIFD_NEFL:c.998T>C commonName c.998T>C HIFD_NEFL:c.998T>C protEffect p.Leu333Pro HIFD_NEFL:c.998T>C phenoCommon CMT2E HIFD_NEFL:c.1575_1576insG commonName c.1575_1576insG HIFD_NEFL:c.1575_1576insG protEffect p.Glu526Gly HIFD_NEFL:c.1575_1576insG phenoCommon CMT2E HIFD_NEFL:c.1579_1581delGAG phenoCommon ALS1 HIFD_NEFL:c.48_60dup13 commonName c.48_60dupGCGCTACGTGGAG HIFD_NEFL:c.48_60dup13 protEffect p.Thr21AlafsX83 HIFD_NEFL:c.48_60dup13 phenoCommon CMT2 HIFD_NEFL:c.639C>G commonName c.639C>G HIFD_NEFL:c.639C>G protEffect p.Ile213Met HIFD_NEFL:c.639C>G phenoCommon CMT2E HIFD_NEFL:c.803T>C commonName c.803T>C HIFD_NEFL:c.803T>C protEffect p.Leu268Pro HIFD_NEFL:c.803T>C phenoCommon CMT2E HIFD_NEFL:c.1186G>A commonName c.1186G>A HIFD_NEFL:c.1186G>A protEffect p.Glu396Lys HIFD_NEFL:c.1186G>A phenoCommon CMT2E HIFD_NEFL:c.963_977del15 commonName c.963_977delATGCCGGGGCATGAA HIFD_NEFL:c.963_977del15 protEffect p.Cys322_Asn326del HIFD_NEFL:c.963_977del15 phenoCommon CMT2E HIFD_NEFL:c.281T>C commonName c.281T>C HIFD_NEFL:c.281T>C protEffect p.Leu94Pro HIFD_NEFL:c.281T>C phenoCommon CMT2 HIFD_NEFL:c.23C>G phenoCommon CMT2 HIFD_NEFL:c.64C>T phenoCommon CMT1 HIFD_NEFL:c.418G>T commonName c.418G>T HIFD_NEFL:c.418G>T protEffect p.Glu140X HIFD_NEFL:c.418G>T phenoCommon CMT1 HIFD_NEFL:c.65C>G commonName c.65C>G HIFD_NEFL:c.65C>G protEffect p.Pro22Arg HIFD_NEFL:c.65C>G phenoCommon CMT1 HIFD_NEFL:c.1186G>A phenoCommon CMT1 HIFD_LMNA:c.16C>T commonName c.16C>T HIFD_LMNA:c.16C>T protEffect p.Gln6X HIFD_LMNA:c.16C>T phenoCommon EDMD2 HIFD_LMNA:c.1357C>T commonName c.1357C>T HIFD_LMNA:c.1357C>T protEffect p.Arg453Trp HIFD_LMNA:c.1357C>T phenoCommon EDMD2 HIFD_LMNA:c.1580G>C commonName c.1580G>C HIFD_LMNA:c.1580G>C protEffect p.Arg527Pro HIFD_LMNA:c.1580G>C phenoCommon EDMD2 HIFD_LMNA:c.1589T>C commonName c.1589T>C HIFD_LMNA:c.1589T>C protEffect p.Leu530Pro HIFD_LMNA:c.1589T>C phenoCommon EDMD2 HIFD_LMNA:c.178C>G commonName c.178C>G HIFD_LMNA:c.178C>G protEffect p.Arg60Gly HIFD_LMNA:c.178C>G phenoCommon CMD1A HIFD_LMNA:c.254T>G commonName c.254T>G HIFD_LMNA:c.254T>G protEffect p.Leu85Arg HIFD_LMNA:c.254T>G phenoCommon CMD1A HIFD_LMNA:c.585C>G commonName c.585C>G HIFD_LMNA:c.585C>G protEffect p.Asn195Lys HIFD_LMNA:c.585C>G phenoCommon CMD1A HIFD_LMNA:c.608A>G commonName c.608A>G HIFD_LMNA:c.608A>G protEffect p.Glu203Gly HIFD_LMNA:c.608A>G phenoCommon CMD1A HIFD_LMNA:c.1445G>A commonName c.1445G>A HIFD_LMNA:c.1445G>A protEffect p.Arg482Gln HIFD_LMNA:c.1445G>A phenoCommon FPLD2 HIFD_LMNA:c.1444C>T commonName c.1444C>T HIFD_LMNA:c.1444C>T protEffect p.Arg482Trp HIFD_LMNA:c.1444C>T phenoCommon FPLD2 HIFD_LMNA:c.1445G>T commonName c.1445G>T HIFD_LMNA:c.1445G>T protEffect p.Arg482Leu HIFD_LMNA:c.1445G>T phenoCommon FPLD2 HIFD_LMNA:c.1458G>C commonName c.1458G>C HIFD_LMNA:c.1458G>C protEffect p.Lys486Asn HIFD_LMNA:c.1458G>C phenoCommon FPLD2 HIFD_LMNA:c.1458G>T commonName c.1458G>T HIFD_LMNA:c.1458G>T protEffect p.Lys486Asn HIFD_LMNA:c.1458G>T phenoCommon FPLD2 HIFD_LMNA:c.959delT commonName c.959delT HIFD_LMNA:c.959delT protEffect p.Leu320fsX160 HIFD_LMNA:c.959delT phenoCommon CMD1A HIFD_LMNA:c.1745G>A commonName c.1745G>A HIFD_LMNA:c.1745G>A protEffect p.Arg582His HIFD_LMNA:c.1745G>A phenoCommon FPLD2 HIFD_LMNA:c.1394G>A commonName c.1394G>A HIFD_LMNA:c.1394G>A protEffect p.Gly465Asp HIFD_LMNA:c.1394G>A phenoCommon FPLD2 HIFD_LMNA:c.746G>A commonName c.746G>A HIFD_LMNA:c.746G>A protEffect p.Arg249Gln HIFD_LMNA:c.746G>A phenoCommon EDMD2 HIFD_LMNA:c.1007G>A commonName c.1007G>A HIFD_LMNA:c.1007G>A protEffect p.Arg336Gln HIFD_LMNA:c.1007G>A phenoCommon EDMD2 HIFD_LMNA:c.1406T>C commonName c.1406T>C HIFD_LMNA:c.1406T>C protEffect p.Ile469Thr HIFD_LMNA:c.1406T>C phenoCommon EDMD2 HIFD_LMNA:c.1583C>A commonName c.1583C>A HIFD_LMNA:c.1583C>A protEffect p.Thr528Lys HIFD_LMNA:c.1583C>A phenoCommon EDMD2 HIFD_LMNA:c.664C>T commonName c.664C>T HIFD_LMNA:c.664C>T protEffect p.His222Tyr HIFD_LMNA:c.664C>T phenoCommon EDMD3 HIFD_LMNA:c.1130G>A commonName c.1130G>A HIFD_LMNA:c.1130G>A protEffect p.Arg377His HIFD_LMNA:c.1130G>A phenoCommon LGMD1B HIFD_LMNA:c.1608+5G>C commonName c.1608+5G>C HIFD_LMNA:c.1608+5G>C protEffect p.Glu537ValfsX36 HIFD_LMNA:c.1608+5G>C phenoCommon LGMD1B HIFD_LMNA:c.622_624delAAG commonName c.622_624delAAG HIFD_LMNA:c.622_624delAAG protEffect p.Lys208del HIFD_LMNA:c.622_624delAAG phenoCommon LGMD1B HIFD_LMNA:c.448A>C commonName c.448A>C HIFD_LMNA:c.448A>C protEffect p.Thr150Pro HIFD_LMNA:c.448A>C phenoCommon EDMD2 HIFD_LMNA:c.781_783delAAG commonName c.781_783delAAG HIFD_LMNA:c.781_783delAAG protEffect p.Lys261del HIFD_LMNA:c.781_783delAAG phenoCommon EDMD2 HIFD_LMNA:c.134A>G commonName c.134A>G HIFD_LMNA:c.134A>G protEffect p.Tyr45Cys HIFD_LMNA:c.134A>G phenoCommon EDMD2 HIFD_LMNA:c.149G>C commonName c.149G>C HIFD_LMNA:c.149G>C protEffect p.Arg50Pro HIFD_LMNA:c.149G>C phenoCommon EDMD2 HIFD_LMNA:c.188T>G commonName c.188T>G HIFD_LMNA:c.188T>G protEffect p.Ile63Ser HIFD_LMNA:c.188T>G phenoCommon EDMD2 HIFD_LMNA:c.665A>C commonName c.665A>C HIFD_LMNA:c.665A>C protEffect p.His222Pro HIFD_LMNA:c.665A>C phenoCommon EDMD2 HIFD_LMNA:c.695G>A commonName c.695G>A HIFD_LMNA:c.695G>A protEffect p.Gly232Glu HIFD_LMNA:c.695G>A phenoCommon EDMD2 HIFD_LMNA:c.881A>C commonName c.881A>C HIFD_LMNA:c.881A>C protEffect p.Gln294Pro HIFD_LMNA:c.881A>C phenoCommon EDMD2 HIFD_LMNA:c.1072G>A commonName c.1072G>A HIFD_LMNA:c.1072G>A protEffect p.Glu358Lys HIFD_LMNA:c.1072G>A phenoCommon EDMD2 HIFD_LMNA:c.1112T>A commonName c.1112T>A HIFD_LMNA:c.1112T>A protEffect p.Met371Lys HIFD_LMNA:c.1112T>A phenoCommon EDMD2 HIFD_LMNA:c.1368C>A commonName c.1368C>A HIFD_LMNA:c.1368C>A protEffect p.Asn456Lys HIFD_LMNA:c.1368C>A phenoCommon EDMD2 HIFD_LMNA:c.1559G>C commonName c.1559G>C HIFD_LMNA:c.1559G>C protEffect p.Trp520Ser HIFD_LMNA:c.1559G>C phenoCommon EDMD2 HIFD_LMNA:c.334_336delGAG commonName c.334_336delGAG HIFD_LMNA:c.334_336delGAG protEffect p.Glu112del HIFD_LMNA:c.334_336delGAG phenoCommon EDMD2 HIFD_LMNA:c.1397_1397delA commonName c.1397_1397delA HIFD_LMNA:c.1397_1397delA protEffect p.Asn466IlefsX14 HIFD_LMNA:c.1397_1397delA phenoCommon CMD1A HIFD_LMNA:c.1751G>A commonName c.1751G>A HIFD_LMNA:c.1751G>A protEffect p.Arg584His HIFD_LMNA:c.1751G>A phenoCommon FPLD2 HIFD_LMNA:c.16C>T phenoCommon CMD1A HIFD_LMNA:c.1930C>T commonName c.1930C>T HIFD_LMNA:c.1930C>T protEffect p.Arg644Cys HIFD_LMNA:c.1930C>T phenoCommon CMD1A HIFD_LMNA:c.74G>C commonName c.74G>C HIFD_LMNA:c.74G>C protEffect p.Arg25Pro HIFD_LMNA:c.74G>C phenoCommon EDMD2 HIFD_LMNA:c.127G>A commonName c.127G>A HIFD_LMNA:c.127G>A protEffect p.Ala43Thr HIFD_LMNA:c.127G>A phenoCommon EDMD2 HIFD_LMNA:c.148C>A commonName c.148C>A HIFD_LMNA:c.148C>A protEffect p.Arg50Ser HIFD_LMNA:c.148C>A phenoCommon EDMD2 HIFD_LMNA:c.398G>C commonName c.398G>C HIFD_LMNA:c.398G>C protEffect p.Arg133Pro HIFD_LMNA:c.398G>C phenoCommon EDMD2 HIFD_LMNA:c.588_596delGCTGCAGAC commonName c.588_596delGCTGCAGAC HIFD_LMNA:c.588_596delGCTGCAGAC protEffect p.Arg196_Thr199delinsSer HIFD_LMNA:c.588_596delGCTGCAGAC phenoCommon EDMD2 HIFD_LMNA:c.1871G>A commonName c.1871G>A HIFD_LMNA:c.1871G>A protEffect p.Arg624His HIFD_LMNA:c.1871G>A phenoCommon EDMD2 HIFD_LMNA:c.1367A>T commonName c.1367A>T HIFD_LMNA:c.1367A>T protEffect p.Asn456Ile HIFD_LMNA:c.1367A>T phenoCommon EDMD2 HIFD_LMNA:c.1441T>C commonName c.1441T>C HIFD_LMNA:c.1441T>C protEffect p.Tyr481His HIFD_LMNA:c.1441T>C phenoCommon LGMD1B HIFD_LMNA:c.892C>T commonName c.892C>T HIFD_LMNA:c.892C>T protEffect p.Arg298Cys HIFD_LMNA:c.892C>T phenoCommon CMT2B1 HIFD_LMNA:c.331G>T commonName c.331G>T HIFD_LMNA:c.331G>T protEffect p.Glu111X HIFD_LMNA:c.331G>T phenoCommon CMD1A HIFD_LMNA:c.289A>G commonName c.289A>G HIFD_LMNA:c.289A>G protEffect p.Lys97Glu HIFD_LMNA:c.289A>G phenoCommon CMD1A HIFD_LMNA:c.568C>T commonName c.568C>T HIFD_LMNA:c.568C>T protEffect p.Arg190Trp HIFD_LMNA:c.568C>T phenoCommon CMD1A HIFD_LMNA:c.949G>A commonName c.949G>A HIFD_LMNA:c.949G>A protEffect p.Glu317Lys HIFD_LMNA:c.949G>A phenoCommon CMD1A HIFD_LMNA:c.82C>T commonName c.82C>T HIFD_LMNA:c.82C>T protEffect p.Arg28Trp HIFD_LMNA:c.82C>T phenoCommon FPLD2 HIFD_LMNA:c.184C>G commonName c.184C>G HIFD_LMNA:c.184C>G protEffect p.Arg62Gly HIFD_LMNA:c.184C>G phenoCommon FPLD2 HIFD_LMNA:c.1130G>T commonName c.1130G>T HIFD_LMNA:c.1130G>T protEffect p.Arg377Leu HIFD_LMNA:c.1130G>T phenoCommon LGMD1B HIFD_LMNA:c.1580G>A commonName c.1580G>A HIFD_LMNA:c.1580G>A protEffect p.Arg527His HIFD_LMNA:c.1580G>A phenoCommon MADA HIFD_LMNA:c.178C>G phenoCommon FPLD2 HIFD_LMNA:c.1201C>T commonName c.1201C>T HIFD_LMNA:c.1201C>T protEffect p.Arg401Cys HIFD_LMNA:c.1201C>T phenoCommon EDMD2 HIFD_LMNA:c.907T>C commonName c.907T>C HIFD_LMNA:c.907T>C protEffect p.Ser303Pro HIFD_LMNA:c.907T>C phenoCommon EDMD2 HIFD_LMNA:c.188T>A commonName c.188T>A HIFD_LMNA:c.188T>A protEffect p.Ile63Asn HIFD_LMNA:c.188T>A phenoCommon EDMD2 HIFD_LMNA:c.94_96delAAG commonName c.94_96delAAG HIFD_LMNA:c.94_96delAAG protEffect p.Lys32del HIFD_LMNA:c.94_96delAAG phenoCommon EDMD2 HIFD_LMNA:c.644T>C commonName c.644T>C HIFD_LMNA:c.644T>C protEffect p.Leu215Pro HIFD_LMNA:c.644T>C phenoCommon CMD1A HIFD_LMNA:c.266G>T commonName c.266G>T HIFD_LMNA:c.266G>T protEffect p.Arg89Leu HIFD_LMNA:c.266G>T phenoCommon CMD1A HIFD_LMNA:c.1130G>A phenoCommon CMD1A HIFD_LMNA:c.1718C>T commonName c.1718C>T HIFD_LMNA:c.1718C>T protEffect p.Ser573Leu HIFD_LMNA:c.1718C>T phenoCommon CMD1A HIFD_LMNA:c.398G>T commonName c.398G>T HIFD_LMNA:c.398G>T protEffect p.Arg133Leu HIFD_LMNA:c.1824C>T commonName c.1824C>T HIFD_LMNA:c.1824C>T protEffect "p.[=, Val607_Gln656del]" HIFD_LMNA:c.1824C>T phenoCommon HGPS HIFD_LMNA:c.433G>A commonName c.433G>A HIFD_LMNA:c.433G>A protEffect p.Glu145Lys HIFD_LMNA:c.433G>A phenoCommon HGPS HIFD_LMNA:c.1822G>A commonName c.1822G>A HIFD_LMNA:c.1822G>A protEffect p.Gly608Ser HIFD_LMNA:c.1822G>A phenoCommon HGPS HIFD_LMNA:c.1411C>T commonName c.1411C>T HIFD_LMNA:c.1411C>T protEffect p.Arg471Cys HIFD_LMNA:c.1411C>T phenoCommon HGPS HIFD_LMNA:c.1579C>T commonName c.1579C>T HIFD_LMNA:c.1579C>T protEffect p.Arg527Cys HIFD_LMNA:c.1579C>T phenoCommon HGPS HIFD_LMNA:c.481G>A commonName c.481G>A HIFD_LMNA:c.481G>A protEffect p.Glu161Lys HIFD_LMNA:c.481G>A phenoCommon CMD1A HIFD_LMNA:c.28_29insA commonName c.28_29insA HIFD_LMNA:c.28_29insA protEffect p.Thr10AsnfsX31 HIFD_LMNA:c.28_29insA phenoCommon CMD1A HIFD_LMNA:c.169G>C commonName c.169G>C HIFD_LMNA:c.169G>C protEffect p.Ala57Pro HIFD_LMNA:c.169G>C phenoCommon WRN HIFD_LMNA:c.398G>T phenoCommon WRN HIFD_LMNA:c.419T>G commonName c.419T>G HIFD_LMNA:c.419T>G protEffect p.Leu140Arg HIFD_LMNA:c.419T>G phenoCommon WRN HIFD_LMNA:c.513G>A commonName c.513G>A HIFD_LMNA:c.513G>A protEffect p.= HIFD_LMNA:c.513G>A phenoCommon LGMD1B HIFD_LMNA:c.1621C>T commonName c.1621C>T HIFD_LMNA:c.1621C>T protEffect p.Arg541Cys HIFD_LMNA:c.1621C>T phenoCommon DCM-CD HIFD_LMNA:c.103C>G commonName c.103C>G HIFD_LMNA:c.103C>G protEffect p.Leu35Val HIFD_LMNA:c.103C>G phenoCommon EDMD2 HIFD_LMNA:c.743T>C commonName c.743T>C HIFD_LMNA:c.743T>C protEffect p.Leu248Pro HIFD_LMNA:c.743T>C phenoCommon EDMD2 HIFD_LMNA:c.800A>G commonName c.800A>G HIFD_LMNA:c.800A>G protEffect p.Tyr267Cys HIFD_LMNA:c.800A>G phenoCommon EDMD2 HIFD_LMNA:c.1337A>T commonName c.1337A>T HIFD_LMNA:c.1337A>T protEffect p.Asp446Val HIFD_LMNA:c.1337A>T phenoCommon EDMD2 HIFD_LMNA:c.1583C>G commonName c.1583C>G HIFD_LMNA:c.1583C>G protEffect p.Thr528Arg HIFD_LMNA:c.1583C>G phenoCommon EDMD2 HIFD_LMNA:c.1622G>A commonName c.1622G>A HIFD_LMNA:c.1622G>A protEffect p.Arg541His HIFD_LMNA:c.1622G>A phenoCommon EDMD2 HIFD_LMNA:c.73C>G commonName c.73C>G HIFD_LMNA:c.73C>G protEffect p.Arg25Gly HIFD_LMNA:c.73C>G phenoCommon EDMD2 HIFD_LMNA:c.1072G>A phenoCommon CMD HIFD_LMNA:c.99G>T commonName c.99G>T HIFD_LMNA:c.99G>T protEffect p.Glu33Asp HIFD_LMNA:c.29C>T commonName c.29C>T HIFD_LMNA:c.29C>T protEffect p.Thr10Ile HIFD_LMNA:c.29C>T phenoCommon HGPS HIFD_LMNA:c.1733A>T commonName c.1733A>T HIFD_LMNA:c.1733A>T protEffect p.Glu578Val HIFD_LMNA:c.1733A>T phenoCommon HGPS HIFD_LMNA:c.1930C>T phenoCommon HGPS HIFD_LMNA:c.1868C>G commonName c.1868C>G HIFD_LMNA:c.1868C>G protEffect "p.[Thr623Ser, Val622_Gln656del]" HIFD_LMNA:c.1868C>G phenoCommon HGPS HIFD_LMNA:c.427T>C commonName c.427T>C HIFD_LMNA:c.427T>C protEffect p.Ser143Pro HIFD_LMNA:c.427T>C phenoCommon CMD1A HIFD_LMNA:c.1046G>T commonName c.1046G>T HIFD_LMNA:c.1046G>T protEffect p.Arg349Leu HIFD_LMNA:c.1046G>T phenoCommon CMD1A HIFD_LMNA:c.1626G>C commonName c.1626G>C HIFD_LMNA:c.1626G>C protEffect p.Lys542Asn HIFD_LMNA:c.1626G>C phenoCommon HGPS HIFD_LMNA:c.1748C>T commonName c.1748C>T HIFD_LMNA:c.1748C>T protEffect p.Ser583Leu HIFD_LMNA:c.1748C>T phenoCommon FPLD1 HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] commonName c.[1583C>T; =]+[=; 1748C>T] HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] protEffect p.[Thr528Met; =]+[=; Ser583Leu] HIFD_LMNA:c.[1583C>T; =]+[=; 1748C>T] phenoCommon FPLD1 HIFD_LMNA:c.1824C>T phenoCommon RD HIFD_LMNA:c.1968+1G>A commonName c.1968+1G>A HIFD_LMNA:c.1968+1G>A protEffect p.Gly567_Gln656del HIFD_LMNA:c.1968+1G>A phenoCommon RD HIFD_LMNA:c.1621C>T phenoCommon CMD1A HIFD_LMNA:c.428C>T commonName c.428C>T HIFD_LMNA:c.428C>T protEffect p.Ser143Phe HIFD_LMNA:c.428C>T phenoCommon EDMD2 HIFD_LMNA:c.428C>T phenoCommon HGPS HIFD_LMNA:c.777T>A commonName c.777T>A HIFD_LMNA:c.777T>A protEffect p.Tyr259X HIFD_LMNA:c.777T>A phenoCommon LGMD1B HIFD_LMNA:c.1187A>G commonName c.1187A>G HIFD_LMNA:c.1187A>G protEffect p.Gln396Arg HIFD_LMNA:c.1187A>G phenoCommon EDMD2 HIFD_LMNA:c.640-10A>G commonName c.640-10A>G HIFD_LMNA:c.640-10A>G protEffect p.? HIFD_LMNA:c.640-10A>G phenoCommon CMD1A HIFD_LMNA:c.1930C>A commonName c.1930C>A HIFD_LMNA:c.1930C>A protEffect p.Arg644His HIFD_LMNA:c.1930C>A phenoCommon CMD1A HIFD_LMNA:c.1494G>T commonName c.1494G>T HIFD_LMNA:c.1494G>T protEffect p.Trp498Cys HIFD_LMNA:c.1494G>T phenoCommon LGMD1B HIFD_LMNA:c.1804G>A commonName c.1804G>A HIFD_LMNA:c.1804G>A protEffect p.Gly602Ser HIFD_LMNA:c.864_867delCCAC commonName c.864_867delCCAC HIFD_LMNA:c.864_867delCCAC protEffect p.His289ArgfsX189 HIFD_LMNA:c.864_867delCCAC phenoCommon LGMD1B HIFD_LMNA:c.1586C>T commonName c.1586C>T HIFD_LMNA:c.1586C>T protEffect p.Ala529Val HIFD_LMNA:c.1586C>T phenoCommon MADA HIFD_LMNA:c.575A>G commonName c.575A>G HIFD_LMNA:c.575A>G protEffect p.Asp192Gly HIFD_LMNA:c.575A>G phenoCommon CMD1A HIFD_LMNA:c.1621C>A commonName c.1621C>A HIFD_LMNA:c.1621C>A protEffect p.Arg541Ser HIFD_LMNA:c.1621C>A phenoCommon CMD1A HIFD_LMNA:c.1443C>G commonName c.1443C>G HIFD_LMNA:c.1443C>G protEffect p.Tyr481X HIFD_LMNA:c.1443C>G phenoCommon CMD1A HIFD_LMNA:c.1535T>C commonName c.1535T>C HIFD_LMNA:c.1535T>C protEffect p.Leu512Pro HIFD_LMNA:c.1535T>C phenoCommon LGMD1B HIFD_LMNA:c.425_426ins21 commonName c.425_426insGGCACTGGAGGCTCTGCTGAA HIFD_LMNA:c.425_426ins21 protEffect p.Leu141_Asn142ins7 HIFD_LMNA:c.425_426ins21 phenoCommon CMD1A HIFD_LMNA:c.394G>C commonName c.394G>C HIFD_LMNA:c.394G>C protEffect p.Ala132Pro HIFD_LMNA:c.394G>C phenoCommon CMD1A HIFD_LMNA:c.1085_1085delT commonName c.1085_1085delT HIFD_LMNA:c.1085_1085delT protEffect p.Leu363TrpfsX117 HIFD_LMNA:c.1085_1085delT phenoCommon CMD1A HIFD_LMNA:c.1493_1493delG commonName c.1493_1493delG HIFD_LMNA:c.1493_1493delG protEffect p.Ala499LeufsX47 HIFD_LMNA:c.1493_1493delG phenoCommon CMD1A HIFD_LMNA:c.1930C>T phenoCommon EDMD2 HIFD_LMNA:c.976T>A commonName c.976T>A HIFD_LMNA:c.976T>A protEffect p.Ser326Thr HIFD_LMNA:c.976T>A phenoCommon CMD1A HIFD_LMNA:c.244G>A commonName c.244G>A HIFD_LMNA:c.244G>A protEffect p.Glu82Lys HIFD_LMNA:c.244G>A phenoCommon CMD1A HIFD_LMNA:c.1488+5G>C commonName c.1488+5G>C HIFD_LMNA:c.1488+5G>C protEffect p.Ile497_Met664delins20 HIFD_LMNA:c.1488+5G>C phenoCommon FPLD2 HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] commonName c.[1318G>A; =]+[=; 1445G>A] HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] protEffect p.[Val440Met; =]+[=; Arg482Gln] HIFD_LMNA:c.[1318G>A; =]+[=; 1445G>A] phenoCommon FPLD2 HIFD_LMNA:c.908_909delCT commonName c.908_909delCT HIFD_LMNA:c.908_909delCT protEffect p.Ser303CysfsX26 HIFD_LMNA:c.908_909delCT phenoCommon CMD1A HIFD_LMNA:c.1960C>T commonName c.1960C>T HIFD_LMNA:c.1960C>T protEffect p.Arg654X HIFD_LMNA:c.1960C>T phenoCommon HGPS HIFD_LMNA:c.1579_1580insCTGC commonName c.1579_1580insCTGC HIFD_LMNA:c.1579_1580insCTGC protEffect p.Arg527ProfsX26 HIFD_LMNA:c.1579_1580insCTGC phenoCommon CMD1A HIFD_LMNA:c.31delC commonName c.31delC HIFD_LMNA:c.31delC protEffect p.Arg11AlafsX85 HIFD_LMNA:c.31delC phenoCommon CMD1A HIFD_LMNA:c.1157G>A commonName c.1157G>A HIFD_LMNA:c.1157G>A protEffect p.Arg386Lys HIFD_LMNA:c.1157G>A phenoCommon EDMD2 HIFD_LMNA:c.419T>C commonName c.419T>C HIFD_LMNA:c.419T>C protEffect p.Leu140Pro HIFD_LMNA:c.419T>C phenoCommon EDMD2 HIFD_LMNA:c.1130G>T phenoCommon EDMD2 HIFD_LMNA:c.-3_12del15 commonName c.-3_12delGCCATGGAGACCCCG HIFD_LMNA:c.-3_12del15 protEffect p.Met1_Pro4del HIFD_LMNA:c.-3_12del15 phenoCommon EDMD2 HIFD_LMNA:c.-3_12del15 phenoCommon CMT2 HIFD_LMNA:c.607G>A commonName c.607G>A HIFD_LMNA:c.607G>A protEffect p.Glu203Lys HIFD_LMNA:c.607G>A phenoCommon CMD1A HIFD_LMNA:c.673C>T commonName c.673C>T HIFD_LMNA:c.673C>T protEffect p.Arg225X HIFD_LMNA:c.673C>T phenoCommon CMD1A HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] commonName c.[1583C>T; =]+[=; 1619T>C] HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] protEffect p.[Thr528Met; =]+[=; Met540Thr] HIFD_LMNA:c.[1583C>T; =]+[=; 1619T>C] phenoCommon HGPS HIFD_LMNA:c.1130G>A phenoCommon EDMD2 HIFD_LMNA:c.31delC phenoCommon EDMD2 HIFD_LMNA:c.99G>C commonName c.99G>C HIFD_LMNA:c.99G>C protEffect p.Glu33Asp HIFD_LMNA:c.99G>C phenoCommon EDMD2 HIFD_LMNA:c.116A>G commonName c.116A>G HIFD_LMNA:c.116A>G protEffect p.Asn39Ser HIFD_LMNA:c.116A>G phenoCommon EDMD2 HIFD_LMNA:c.775T>G commonName c.775T>G HIFD_LMNA:c.775T>G protEffect p.Tyr259Asp HIFD_LMNA:c.775T>G phenoCommon EDMD2 HIFD_LMNA:c.1146C>T commonName c.1146C>T HIFD_LMNA:c.1146C>T protEffect p.= HIFD_LMNA:c.1146C>T phenoCommon LGMD1B HIFD_LMNA:c.1357C>T phenoCommon LGMD1B HIFD_LMNA:c.1583C>A phenoCommon LGMD1B HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] commonName c.[992G>A; =]+[=; 1039G>A] HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] protEffect p.[Arg331Glu; =]+[=; Glu347Lys] HIFD_LMNA:c.[992G>A; =]+[=; 1039G>A] phenoCommon CMD1A HIFD_LMNA:c.1718C>T phenoCommon LGMD1B HIFD_LMNA:c.1477C>T commonName c.1477C>T HIFD_LMNA:c.1477C>T protEffect p.Gln493X HIFD_LMNA:c.1477C>T phenoCommon AD-SMA HIFD_LMNA:c.1130G>T phenoCommon AD-SMA HIFD_LMNA:c.688G>A commonName c.688G>A HIFD_LMNA:c.688G>A protEffect p.Asp230Asn HIFD_LMNA:c.688G>A phenoCommon FPLD2 HIFD_LMNA:c.1195C>T commonName c.1195C>T HIFD_LMNA:c.1195C>T protEffect p.Arg399Cys HIFD_LMNA:c.1195C>T phenoCommon FPLD2 HIFD_LMNA:c.1718C>T phenoCommon FPLD2 HIFD_LMNA:c.176T>G commonName c.176T>G HIFD_LMNA:c.176T>G protEffect p.Leu59Arg HIFD_LMNA:c.176T>G phenoCommon MADA HIFD_LMNA:c.1968+1G>A phenoCommon HGPS HIFD_LMNA:c.1821G>A commonName c.1821G>A HIFD_LMNA:c.1821G>A protEffect p.= HIFD_LMNA:c.1821G>A phenoCommon HGPS HIFD_LMNA:c.575A>G phenoCommon DCM-CD HIFD_LMNA:c.568C>T phenoCommon DCM-CD HIFD_LMNA:c.481G>A phenoCommon DCM-CD HIFD_LMNA:c.158A>T commonName c.158A>T HIFD_LMNA:c.158A>T protEffect p.Glu53Val HIFD_LMNA:c.158A>T phenoCommon DCM-CD HIFD_LMNA:c.556G>A commonName c.556G>A HIFD_LMNA:c.556G>A protEffect p.Glu186Lys HIFD_LMNA:c.556G>A phenoCommon DCM-CD HIFD_LMNA:c.800A>G phenoCommon CMD1A HIFD_LMNA:c.855delG commonName c.855delG HIFD_LMNA:c.855delG protEffect p.Ala287LeufsX191 HIFD_LMNA:c.855delG phenoCommon CMD1A HIFD_LMNA:c.855delG phenoCommon LGMD1B HIFD_LMNA:c.992G>C commonName c.992G>C HIFD_LMNA:c.992G>C protEffect p.Arg331Pro HIFD_LMNA:c.992G>C phenoCommon CMD1A HIFD_LMNA:c.992G>C phenoCommon LGMD1B HIFD_LMNA:c.1370delA commonName c.1370delA HIFD_LMNA:c.1370delA protEffect p.Lys457SerfsX21 HIFD_LMNA:c.1370delA phenoCommon CMD1A HIFD_LMNA:c.1370delA phenoCommon LGMD1B HIFD_LMNA:c.1526_1527insC commonName c.1526_1527insC HIFD_LMNA:c.1526_1527insC protEffect p.Thr510TyrfsX42 HIFD_LMNA:c.1526_1527insC phenoCommon DCM-CD HIFD_LMNA:c.1162C>T commonName c.1162C>T HIFD_LMNA:c.1162C>T protEffect p.Arg388Cys HIFD_LMNA:c.1162C>T phenoCommon EDMD2 HIFD_LMNA:c.1162C>T phenoCommon CMD HIFD_LMNA:c.1368_1370delCAA commonName c.1368_1370delCAA HIFD_LMNA:c.1368_1370delCAA protEffect p.Asn456del HIFD_LMNA:c.1368_1370delCAA phenoCommon CMD HIFD_LMNA:c.1368_1370delCAA phenoCommon EDMD2 HIFD_LMNA:c.624_626delGAA commonName c.624_626delGAA HIFD_LMNA:c.624_626delGAA protEffect p.Lys208del HIFD_LMNA:c.624_626delGAA phenoCommon LGMD1B HIFD_LMNA:c.673C>T phenoCommon CCD HIFD_LMNA:c.1380+1G>A commonName c.1380+1G>A HIFD_LMNA:c.1380+1G>A protEffect p.? HIFD_LMNA:c.1380+1G>A phenoCommon CMD1A HIFD_LMNA:c.1315C>T commonName c.1315C>T HIFD_LMNA:c.1315C>T protEffect p.Arg439Cys HIFD_LMNA:c.1315C>T phenoCommon FPLD2 HIFD_LMNA:c.398G>T phenoCommon FPLD2 HIFD_LMNA:c.1512_1513insAG commonName c.1512_1513insAG HIFD_LMNA:c.1512_1513insAG protEffect p.Thr505ArgfsX44 HIFD_LMNA:c.1512_1513insAG phenoCommon CMD1A HIFD_LMNA:c.585C>A commonName c.585C>A HIFD_LMNA:c.585C>A protEffect p.Asn195Lys HIFD_LMNA:c.585C>A phenoCommon CMD1A HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] commonName c.[1318G>A; =]+[=; 1580G>A] HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] protEffect p.[Val440Met; =]+[=; Arg527His] HIFD_LMNA:c.[1318G>A; =]+[=; 1580G>A] phenoCommon MADA HIFD_LMNA:c.961C>T commonName c.961C>T HIFD_LMNA:c.961C>T protEffect p.Arg321X HIFD_LMNA:c.961C>T phenoCommon CMD1A HIFD_LMNA:c.625delA commonName c.625delA HIFD_LMNA:c.625delA protEffect p.Asn209ThrfsX271 HIFD_LMNA:c.625delA phenoCommon EDMD2 HIFD_LMNA:c.908_909delCT phenoCommon LGMD1B HIFD_LMNA:c.73C>T commonName c.73C>T HIFD_LMNA:c.73C>T protEffect p.Arg25Cys HIFD_LMNA:c.1622G>C commonName c.1622G>C HIFD_LMNA:c.1622G>C protEffect p.Arg541Pro HIFD_LMNA:c.1045C>T commonName c.1045C>T HIFD_LMNA:c.1045C>T protEffect p.Arg349Trp HIFD_LMNA:c.1772G>T commonName c.1772G>T HIFD_LMNA:c.1772G>T protEffect p.Arg156Cys HIFD_LMNA:c.1772G>T phenoCommon FPLD2 HIFD_LMNA:c.1558T>G commonName c.1558T>G HIFD_LMNA:c.1558T>G protEffect p.Trp520Gly HIFD_LMNA:c.1558T>G phenoCommon EDMD2 HIFD_LMNA:c.1142A>C commonName c.1142A>C HIFD_LMNA:c.1142A>C protEffect p.Glu381Ala HIFD_LMNA:c.1142A>C phenoCommon EDMD2 HIFD_LMNA:c.265C>T commonName c.265C>T HIFD_LMNA:c.265C>T protEffect p.Arg89Cys HIFD_LMNA:c.265C>T phenoCommon EDMD2 HIFD_LMNA:c.1585G>A commonName c.1585G>A HIFD_LMNA:c.1585G>A protEffect p.Ala529Thr HIFD_LMNA:c.1585G>A phenoCommon MADA HIFD_LMNA:c.1411C>G commonName c.1411C>G HIFD_LMNA:c.1411C>G protEffect p.Arg471Gly HIFD_LMNA:c.1411C>G phenoCommon FPLD2 HIFD_LMNA:c.1411C>G phenoCommon FPLD1 HIFD_LMNA:c.176T>G phenoCommon CMD1A HIFD_LMNA:c.1411C>T phenoCommon MADA HIFD_LMNA:c.1698C>T commonName c.1698C>T HIFD_LMNA:c.1698C>T protEffect p.= HIFD_LMNA:c.274C>T commonName c.274C>T HIFD_LMNA:c.274C>T protEffect p.Leu92Phe HIFD_LMNA:c.1184C>T commonName c.1184C>T HIFD_LMNA:c.1184C>T protEffect p.Ser395Leu HIFD_LMNA:c.1159C>G commonName c.1159C>G HIFD_LMNA:c.1159C>G protEffect p.Leu387Val HIFD_LMNA:c.1196G>A commonName c.1196G>A HIFD_LMNA:c.1196G>A protEffect p.Arg399His HIFD_LMNA:c.1262T>C commonName c.1262T>C HIFD_LMNA:c.1262T>C protEffect p.Leu421Pro HIFD_LMNA:c.1516C>G commonName c.1516C>G HIFD_LMNA:c.1516C>G protEffect p.His506Asp HIFD_LMNA:c.1964_1965insG commonName c.1964_1965insG HIFD_LMNA:c.1964_1965insG protEffect p.Thr655fsX49 HIFD_LMNA:c.1069G>C commonName c.1069G>C HIFD_LMNA:c.1069G>C protEffect p.Asp357His HIFD_LMNA:c.1069G>C phenoCommon DCM-CD HIFD_LMNA:c.302G>C commonName c.302G>C HIFD_LMNA:c.302G>C protEffect p.Arg101Pro HIFD_LMNA:c.302G>C phenoCommon CMD1A HIFD_LMNA:c.357-1G>T commonName c.357-1G>T HIFD_LMNA:c.357-1G>T protEffect p.? HIFD_LMNA:c.357-1G>T phenoCommon CMD1A HIFD_LMNA:c.497G>C commonName c.497G>C HIFD_LMNA:c.497G>C protEffect p.Arg166Pro HIFD_LMNA:c.497G>C phenoCommon CMD1A HIFD_LMNA:c.569G>A commonName c.569G>A HIFD_LMNA:c.569G>A protEffect p.Arg190Gln HIFD_LMNA:c.569G>A phenoCommon CMD1A HIFD_LMNA:c.629T>G commonName c.629T>G HIFD_LMNA:c.629T>G protEffect p.Ile210Ser HIFD_LMNA:c.629T>G phenoCommon CMD1A HIFD_LMNA:c.700C>T commonName c.700C>T HIFD_LMNA:c.700C>T protEffect p.Gln234X HIFD_LMNA:c.700C>T phenoCommon CMD1A HIFD_LMNA:c.952G>A commonName c.952G>A HIFD_LMNA:c.952G>A protEffect p.Ala318Thr HIFD_LMNA:c.952G>A phenoCommon CMD1A HIFD_LMNA:c.1114delG commonName c.1114delG HIFD_LMNA:c.1114delG protEffect p.Glu372ArgfsX107 HIFD_LMNA:c.1114delG phenoCommon CMD1A HIFD_LMNA:c.1488+5G>A commonName c.1488+5G>A HIFD_LMNA:c.1488+5G>A protEffect p.? HIFD_LMNA:c.1488+5G>A phenoCommon LGMD1B HIFD_LMNA:c.1163G>A commonName c.1163G>A HIFD_LMNA:c.1163G>A protEffect p.Arg388His HIFD_LMNA:c.1163G>A phenoCommon CMD1A HIFD_LMNA:c.1195C>T phenoCommon CMD1A HIFD_LMNA:c.1307_1308insGCAC commonName c.1307_1308insGCAC HIFD_LMNA:c.1307_1308insGCAC protEffect p.Ser437HisfsX1 HIFD_LMNA:c.1307_1308insGCAC phenoCommon CMD1A HIFD_LMNA:c.1412G>A commonName c.1412G>A HIFD_LMNA:c.1412G>A protEffect p.Arg471His HIFD_LMNA:c.1412G>A phenoCommon CMD1A HIFD_LMNA:c.1424_1425insAGA commonName c.1424_1425insAGA HIFD_LMNA:c.1424_1425insAGA protEffect p.Gly474_Asp475insGlu HIFD_LMNA:c.1424_1425insAGA phenoCommon CMD1A HIFD_LMNA:c.1960C>T phenoCommon CMD1A HIFD_LMNA:c.1072G>T commonName c.1072G>T HIFD_LMNA:c.1072G>T protEffect p.Glu358X HIFD_LMNA:c.1072G>T phenoCommon CMD1A HIFD_LMNA:c.1579C>T phenoCommon MADA HIFD_LMNA:c.1496_1496delC commonName c.1496_1496delC HIFD_LMNA:c.1496_1496delC protEffect p.Ala499ValfsX141 HIFD_LMNA:c.1496_1496delC phenoCommon CMT2 HIFD_LMNA:c.1609-3C>G commonName c.1609-3C>G HIFD_LMNA:c.1609-3C>G protEffect p.? HIFD_LMNA:c.1609-3C>G phenoCommon LGMD1B HIFD_LMNA:c.1609-12T>G commonName c.1609-12T>G HIFD_LMNA:c.1609-12T>G protEffect p.Glu536fsX14 HIFD_LMNA:c.82C>T phenoCommon CMD1A HIFD_LMNA:c.548T>C commonName c.548T>C HIFD_LMNA:c.548T>C protEffect p.Leu183Pro HIFD_LMNA:c.548T>C phenoCommon CMD1A HIFD_LMNA:c.656A>C commonName c.656A>C HIFD_LMNA:c.656A>C protEffect p.Lys219Thr HIFD_LMNA:c.656A>C phenoCommon CMD1A HIFD_LMNA:c.1492T>A commonName c.1492T>A HIFD_LMNA:c.1492T>A protEffect p.Trp498Arg HIFD_LMNA:c.1492T>A phenoCommon EDMD2 HIFD_LMNA:c.1492T>A phenoCommon CMD1A HIFD_LMNA:c.1130G>T phenoCommon CMD1A HIFD_LMNA:c.203_208delAGGTGG commonName c.203_208delAGGTGG HIFD_LMNA:c.203_208delAGGTGG protEffect p.Glu68_Val69del HIFD_LMNA:c.203_208delAGGTGG phenoCommon CMD1A HIFD_LMNA:c.203_208delAGGTGG phenoCommon EDMD2 HIFD_LMNA:c.736C>T commonName c.736C>T HIFD_LMNA:c.736C>T protEffect p.Gln246X HIFD_LMNA:c.736C>T phenoCommon CMD1A HIFD_LMNA:c.936+1G>T commonName c.936+1G>T HIFD_LMNA:c.936+1G>T protEffect p.? HIFD_LMNA:c.936+1G>T phenoCommon CMD1A HIFD_LMNA:c.514-1G>A commonName c.514-1G>A HIFD_LMNA:c.514-1G>A protEffect p.? HIFD_LMNA:c.514-1G>A phenoCommon DCM-CD HIFD_LMNA:c.1157+1G>A commonName c.1157+1G>A HIFD_LMNA:c.1157+1G>A protEffect p.? HIFD_LMNA:c.1157+1G>A phenoCommon DCM-CD HIFD_LMNA:c.1580G>C phenoCommon EDMD3 HIFD_LMNA:c.608A>T commonName c.608A>T HIFD_LMNA:c.608A>T protEffect p.Glu203Val HIFD_LMNA:c.608A>T phenoCommon CMD1A HIFD_LMNA:c.898G>A commonName c.898G>A HIFD_LMNA:c.898G>A protEffect p.Asp300Asn HIFD_LMNA:c.898G>A phenoCommon WRN HIFD_LMNA:c.1608+1G>A commonName c.1608+1G>A HIFD_LMNA:c.1608+1G>A protEffect p.? HIFD_LMNA:c.1608+1G>A phenoCommon LGMD1B HIFD_LMNA:c.799T>C commonName c.799T>C HIFD_LMNA:c.799T>C protEffect p.Tyr267His HIFD_LMNA:c.799T>C phenoCommon CCD HIFD_LMNA:c.485T>C commonName c.485T>C HIFD_LMNA:c.485T>C protEffect p.Leu162Pro HIFD_LMNA:c.485T>C phenoCommon EDMD2 HIFD_LMNA:c.1139T>C commonName c.1139T>C HIFD_LMNA:c.1139T>C protEffect p.Leu380Ser HIFD_LMNA:c.1139T>C phenoCommon CMD HIFD_LMNA:c.506delT commonName c.506delT HIFD_LMNA:c.506delT protEffect p.Val169GlyfsX7 HIFD_LMNA:c.506delT phenoCommon WRN HIFD_LMNA:c.745C>T commonName c.745C>T HIFD_LMNA:c.745C>T protEffect p.Arg249Trp HIFD_LMNA:c.745C>T phenoCommon CMD HIFD_LMNA:c.905T>C commonName c.905T>C HIFD_LMNA:c.905T>C protEffect p.Leu302Pro HIFD_LMNA:c.1364G>C commonName c.1364G>C HIFD_LMNA:c.1364G>C protEffect p.Arg455Pro HIFD_LMNA:c.1358G>C commonName c.1358G>C HIFD_LMNA:c.1358G>C protEffect p.Arg453Pro HIFD_LMNA:c.1366A>G commonName c.1366A>G HIFD_LMNA:c.1366A>G protEffect p.Asn456Asp HIFD_LMNA:c.1381-2A>G commonName c.1381-2A>G HIFD_LMNA:c.1381-2A>G protEffect p.? HIFD_LMNA:c.106C>T commonName c.106C>T HIFD_LMNA:c.106C>T protEffect p.Gln36X HIFD_LMNA:c.106C>T phenoCommon DCM-CD HIFD_LMNA:c.810+63C>A commonName c.810+63C>A HIFD_LMNA:c.810+63C>A protEffect p.? HIFD_LMNA:c.810+63C>A phenoCommon LAF HIFD_LMNA:c.1158-44C>T commonName c.1158-44C>T HIFD_LMNA:c.1158-44C>T protEffect p.? HIFD_LMNA:c.1158-44C>T phenoCommon LAF HIFD_LMNA:c.937-46A>G commonName c.937-46A>G HIFD_LMNA:c.937-46A>G protEffect p.? HIFD_LMNA:c.937-46A>G phenoCommon LAF HIFD_LMNA:c.1149G>A commonName c.1149G>A HIFD_LMNA:c.1149G>A protEffect p.= HIFD_LMNA:c.1149G>A phenoCommon LAF HIFD_LMNA:c.1803C>T commonName c.1803C>T HIFD_LMNA:c.1803C>T protEffect p.= HIFD_LMNA:c.1803C>T phenoCommon LAF HIFD_LMNA:c.373G>A commonName c.373G>A HIFD_LMNA:c.373G>A protEffect p.Gly125Ser HIFD_LMNA:c.373G>A phenoCommon LAF HIFD_LMNA:c.1243G>A commonName c.1243G>A HIFD_LMNA:c.1243G>A protEffect p.Val415Ile HIFD_LMNA:c.1243G>A phenoCommon LAF HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] commonName c.[373G>A; =]+[=; 1243G>A] HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] protEffect p.[Gly125Ser; =]+[=; Val415Ile] HIFD_LMNA:c.[373G>A; =]+[=; 1243G>A] phenoCommon LAF HIFD_LMNA:c.1462A>C commonName c.1462A>C HIFD_LMNA:c.1462A>C protEffect p.Thr488Pro HIFD_LMNA:c.1462A>C phenoCommon LAF HIFD_LMNA:c.139G>C commonName c.139G>C HIFD_LMNA:c.139G>C protEffect p.Asp47His HIFD_LMNA:c.139G>C phenoCommon EDMD2 HIFD_LMNA:c.694G>C commonName c.694G>C HIFD_LMNA:c.694G>C protEffect p.Gly232Arg HIFD_LMNA:c.694G>C phenoCommon EDMD2 HIFD_LMNA:c.746G>A phenoCommon LGMD1B HIFD_LMNA:c.1622G>A phenoCommon CMD1A HIFD_LMNA:c.1048G>C commonName c.1048G>C HIFD_LMNA:c.1048G>C protEffect p.Ala350Pro HIFD_LMNA:c.1048G>C phenoCommon CMD1A HIFD_LMNA:c.155T>C commonName c.155T>C HIFD_LMNA:c.155T>C protEffect p.Leu52Pro HIFD_LMNA:c.155T>C phenoCommon CMD1A HIFD_LMNA:c.1904G>A commonName c.1904G>A HIFD_LMNA:c.1904G>A protEffect p.Gly635Asp HIFD_LMNA:c.1904G>A phenoCommon CMD1A HIFD_LMNA:c.1930C>T phenoCommon FPLD2 HIFD_LMNA:c.781_783delAAGins18 commonName c.781_783delAAGinsGTGGAGCAGTATAAGAAA HIFD_LMNA:c.781_783delAAGins18 protEffect p.Lys261delins6 HIFD_LMNA:c.781_783delAAGins18 phenoCommon EDMD2 HIFD_LMNA:c.1633C>T commonName c.1633C>T HIFD_LMNA:c.1633C>T protEffect p.Arg545Cys HIFD_LMNA:c.1633C>T phenoCommon EDMD2 HIFD_LMNA:c.98A>G commonName c.98A>G HIFD_LMNA:c.98A>G protEffect p.Glu33Gly HIFD_LMNA:c.98A>G phenoCommon EDMD2 HIFD_LMNA:c.136A>G commonName c.136A>G HIFD_LMNA:c.136A>G protEffect p.Ile46Val HIFD_LMNA:c.136A>G phenoCommon EDMD2 HIFD_LMNA:c.274C>T phenoCommon CMD1A HIFD_LMNA:c.1567G>A commonName c.1567G>A HIFD_LMNA:c.1567G>A protEffect p.Gly523Arg HIFD_LMNA:c.1567G>A phenoCommon CMD1A HIFD_LMNA:c.1157G>T commonName c.1157G>T HIFD_LMNA:c.1157G>T protEffect p.Arg386Met HIFD_LMNA:c.1157G>T phenoCommon EDMD2 HIFD_LMNA:c.775T>C commonName c.775T>C HIFD_LMNA:c.775T>C protEffect p.Tyr259His HIFD_LMNA:c.815_818delACAAinsCCAGAC commonName c.815_818delACAAinsCCAGAC HIFD_LMNA:c.815_818delACAAinsCCAGAC protEffect p.Asp272AlafsX208 HIFD_LMNA:c.1063C>T commonName c.1063C>T HIFD_LMNA:c.1063C>T protEffect p.Gln355X HIFD_LMNA:c.1063C>T phenoCommon CMD1A HIFD_LMNA:c.992G>A commonName c.992G>A HIFD_LMNA:c.992G>A protEffect p.Arg331Gln HIFD_LMNA:c.992G>A phenoCommon CMD1A HIFD_LMNA:c.1294C>T commonName c.1294C>T HIFD_LMNA:c.1294C>T protEffect p.Gln432X HIFD_LMNA:c.1294C>T phenoCommon CMD1A HIFD_LMNA:c.1318G>A commonName c.1318G>A HIFD_LMNA:c.1318G>A protEffect p.Val440Met HIFD_LMNA:c.1318G>A phenoCommon CMD1A HIFD_LMNA:c.406G>C commonName c.406G>C HIFD_LMNA:c.406G>C protEffect p.Asp136His HIFD_LMNA:c.406G>C phenoCommon HGPS HIFD_LMNA:c.11C>G commonName c.11C>G HIFD_LMNA:c.11C>G protEffect p.Pro4Arg HIFD_LMNA:c.11C>G phenoCommon HGPS HIFD_LMNA:c.1762T>C commonName c.1762T>C HIFD_LMNA:c.1762T>C protEffect p.Cys588Arg HIFD_LMNA:c.1762T>C phenoCommon HGPS HIFD_LMNA:c.331G>T phenoCommon HGPS HIFD_LMNA:c.475G>A commonName c.475G>A HIFD_LMNA:c.475G>A protEffect p.Glu159Lys HIFD_LMNA:c.475G>A phenoCommon HGPS HIFD_LMNA:c.1303C>T commonName c.1303C>T HIFD_LMNA:c.1303C>T protEffect p.Arg435Cys HIFD_LMNA:c.1303C>T phenoCommon HGPS HIFD_LMNA:c.1057C>A commonName c.1057C>A HIFD_LMNA:c.1057C>A protEffect p.Gln353Lys HIFD_LMNA:c.1057C>A phenoCommon CMD1A HIFD_LMNA:c.73C>G phenoCommon CMD1A HIFD_LMNA:c.73C>G phenoCommon LGMD1B HIFD_LMNA:c.575A>T commonName c.575A>T HIFD_LMNA:c.575A>T protEffect p.Asp192Val HIFD_LMNA:c.575A>T phenoCommon FPLD2 HIFD_LMNA:c.1102_1130dup29 commonName c.1102_1130dupGCCCTGGACATGGAGATCCACGCCTACCG HIFD_LMNA:c.1102_1130dup29 protEffect p.Lys378ProfsX112 HIFD_LMNA:c.1102_1130dup29 phenoCommon CMD1A HIFD_LMNA:c.673C>T phenoCommon LGMD1B HIFD_LMNA:c.788T>C commonName c.788T>C HIFD_LMNA:c.788T>C protEffect p.Leu263Pro HIFD_LMNA:c.788T>C phenoCommon EDMD2 HIFD_LMNA:c.565C>T commonName c.565C>T HIFD_LMNA:c.565C>T protEffect p.Arg189Trp HIFD_LMNA:c.565C>T phenoCommon CMD1A HIFD_LMNA:c.302G>C phenoCommon LGMD1B HIFD_LMNA:c.115A>T commonName c.115A>T HIFD_LMNA:c.115A>T protEffect p.Asn39Tyr HIFD_LMNA:c.115A>T phenoCommon CMD HIFD_LMNA:c.357C>T commonName c.357C>T HIFD_LMNA:c.357C>T protEffect p.= HIFD_LMNA:c.357C>T phenoCommon EDMD2 HIFD_LMNA:c.568_570dupCGG commonName c.568_570dupCGG HIFD_LMNA:c.568_570dupCGG protEffect p.Arg190dup HIFD_LMNA:c.568_570dupCGG phenoCommon EDMD2 HIFD_LMNA:c.618C>G commonName c.618C>G HIFD_LMNA:c.618C>G protEffect p.Phe206Leu HIFD_LMNA:c.618C>G phenoCommon EDMD2 HIFD_LMNA:c.802T>C commonName c.802T>C HIFD_LMNA:c.802T>C protEffect p.Ser268Pro HIFD_LMNA:c.802T>C phenoCommon EDMD2 HIFD_LMNA:c.810G>A commonName c.810G>A HIFD_LMNA:c.810G>A protEffect p.= HIFD_LMNA:c.810G>A phenoCommon EDMD2 HIFD_LMNA:c.810+1G>A commonName c.810+1G>A HIFD_LMNA:c.810+1G>A protEffect p.? HIFD_LMNA:c.810+1G>A phenoCommon EDMD2 HIFD_LMNA:c.883T>C commonName c.883T>C HIFD_LMNA:c.883T>C protEffect p.Ser295Pro HIFD_LMNA:c.883T>C phenoCommon EDMD2 HIFD_LMNA:c.1081G>A commonName c.1081G>A HIFD_LMNA:c.1081G>A protEffect p.Glu361Lys HIFD_LMNA:c.1081G>A phenoCommon EDMD2 HIFD_LMNA:c.1064_1066delAGC commonName c.1064_1066delAGC HIFD_LMNA:c.1064_1066delAGC protEffect p.Gln355del HIFD_LMNA:c.1064_1066delAGC phenoCommon EDMD2 HIFD_LMNA:c.1158-2A>G commonName c.1158-2A>G HIFD_LMNA:c.1158-2A>G protEffect p.? HIFD_LMNA:c.1158-2A>G phenoCommon EDMD2 HIFD_LMNA:c.1346G>A commonName c.1346G>A HIFD_LMNA:c.1346G>A protEffect p.Gly449Asp HIFD_LMNA:c.1346G>A phenoCommon EDMD2 HIFD_LMNA:c.1361T>C commonName c.1361T>C HIFD_LMNA:c.1361T>C protEffect p.Leu454Pro HIFD_LMNA:c.1361T>C phenoCommon EDMD2 HIFD_LMNA:c.1399T>C commonName c.1399T>C HIFD_LMNA:c.1399T>C protEffect p.Trp467Arg HIFD_LMNA:c.1399T>C phenoCommon EDMD2 HIFD_LMNA:c.1488+1G>A commonName c.1488+1G>A HIFD_LMNA:c.1488+1G>A protEffect p.? HIFD_LMNA:c.1488+1G>A phenoCommon EDMD2 HIFD_LMNA:c.745C>T phenoCommon EDMD2 HIFD_LMNA:c.[745C>T; 1930C>T] commonName c.[745C>T; 1930C>T] HIFD_LMNA:c.[745C>T; 1930C>T] protEffect p.[Arg249Trp; Arg644Cys] HIFD_LMNA:c.[745C>T; 1930C>T] phenoCommon EDMD2 HIFD_LMNA:c.812T>C commonName c.812T>C HIFD_LMNA:c.812T>C protEffect p.Leu271Pro HIFD_LMNA:c.812T>C phenoCommon EDMD2 HIFD_LMNA:c.1381-2A>G phenoCommon EDMD2 HIFD_LMNA:c.[1381-1G>T; 1381G>T] commonName c.[1381-1G>T; 1381G>T] HIFD_LMNA:c.[1381-1G>T; 1381G>T] protEffect p.[?; Asp461Tyr] HIFD_LMNA:c.[1381-1G>T; 1381G>T] phenoCommon EDMD2 HIFD_LMNA:c.1526dupC commonName c.1526dupC HIFD_LMNA:c.1526dupC protEffect p.Thr510TyrfsX42 HIFD_LMNA:c.1526dupC phenoCommon EDMD2 HIFD_LMNA:c.1621C>A phenoCommon EDMD2 HIFD_LMNA:c.1622G>C phenoCommon EDMD2 HIFD_LMNA:c.1804G>A phenoCommon EDMD2 HIFD_LMNA:c.566_567delGGinsCC commonName c.566_567delGGinsCC HIFD_LMNA:c.566_567delGGinsCC protEffect p.Arg189Pro HIFD_LMNA:c.566_567delGGinsCC phenoCommon EDMD2 HIFD_LMNA:c.104T>C commonName c.104T>C HIFD_LMNA:c.104T>C protEffect p.Leu35Pro HIFD_LMNA:c.104T>C phenoCommon CMD HIFD_LMNA:c.1621C>G commonName c.1621C>G HIFD_LMNA:c.1621C>G protEffect p.Arg541Gly HIFD_LMNA:c.1621C>G phenoCommon CMD1A HIFD_LMNA:c.937-11C>G commonName c.937-11C>G HIFD_LMNA:c.937-11C>G protEffect p.Leu313GlyfsX31 HIFD_LMNA:c.937-11C>G phenoCommon CMD1A HIFD_LMNA:c.348_349insG commonName c.348_349insG HIFD_LMNA:c.348_349insG protEffect p.Lys117GlufsX10 HIFD_LMNA:c.348_349insG phenoCommon CMD1A HIFD_LMNA:c.1445G>A phenoCommon T2D HIFD_LMNA:c.1303C>T phenoCommon RD HIFD_LMNA:c.1232G>A commonName c.1232G>A HIFD_LMNA:c.1232G>A protEffect p.Gly411Asp HIFD_LMNA:c.1232G>A phenoCommon FPLD2 HIFD_LMNA:c.1892G>A commonName c.1892G>A HIFD_LMNA:c.1892G>A protEffect p.Gly631Asp HIFD_LMNA:c.1892G>A phenoCommon FPLD2 HIFD_LMNA:c.412G>A commonName c.412G>A HIFD_LMNA:c.412G>A protEffect p.Glu138Lys HIFD_LMNA:c.412G>A phenoCommon HGPS HIFD_LMNA:c.1711C>A commonName c.1711C>A HIFD_LMNA:c.1711C>A protEffect p.Arg571Ser HIFD_LMNA:c.1711C>A phenoCommon CMD1A HIFD_LMNA:c.1711C>T commonName c.1711C>T HIFD_LMNA:c.1711C>T protEffect p.Arg571Cys HIFD_LMNB2:c.644G>A commonName c.644G>A HIFD_LMNB2:c.644G>A protEffect p.Arg215Gln HIFD_LMNB2:c.644G>A phenoCommon APL HIFD_LMNB2:c.205-6C>T commonName c.205-6C>T HIFD_LMNB2:c.205-6C>T protEffect p.? HIFD_LMNB2:c.205-6C>T phenoCommon APL HIFD_LMNB2:c.1219G>A commonName c.1219G>A HIFD_LMNB2:c.1219G>A protEffect p.Ala407Thr HIFD_LMNB2:c.1219G>A phenoCommon APL HIFD_BFSP2:c.859C>T commonName c.859C>T HIFD_BFSP2:c.859C>T protEffect p.Arg287Trp HIFD_BFSP2:c.859C>T phenoCommon ADC HIFD_BFSP2:c.697_699delGAA commonName c.697_699delGAA HIFD_BFSP2:c.697_699delGAA protEffect p.Glu233del HIFD_BFSP2:c.697_699delGAA phenoCommon ADC HIFD_KRT12:c.55C>T commonName c.55C>T HIFD_KRT12:c.55C>T protEffect p.Arg19Trp HIFD_KRT12:c.55C>T disease not phenotype-associated HIFD_KRT12:c.43C>T commonName c.43C>T HIFD_KRT12:c.43C>T protEffect p.Pro15Ser HIFD_KRT12:c.43C>T disease not phenotype-associated HIFD_KRT12:c.*360A>C commonName c.*360A>C HIFD_KRT12:c.*360A>C protEffect p.= HIFD_KRT12:c.*360A>C disease not phenotype-associated HIFD_KRT14:c.369T>C commonName c.369T>C HIFD_KRT14:c.369T>C protEffect p.= HIFD_KRT14:c.369T>C disease not phenotype-associated HIFD_KRT14:c.[556G>A]+[1237G>A] commonName c.[556G>A]+[1237G>A] HIFD_KRT14:c.[556G>A]+[1237G>A] protEffect p.[Val186Met]+[Ala413Thr] HIFD_KRT14:c.[556G>A]+[1237G>A] phenoCommon EBS-K HIFD_KRT14:c.88C>T commonName c.88C>T HIFD_KRT14:c.88C>T protEffect p.Arg30Lys HIFD_KRT14:c.88C>T phenoCommon EBS-WC HIFD_KRT14:c.88C>T disease not phenotype-associated HIFD_KRT14:c.231C>T commonName c.231C>T HIFD_KRT14:c.231C>T protEffect p.= HIFD_KRT14:c.231C>T disease not phenotype-associated HIFD_KRT14:c.280G>A commonName c.280G>A HIFD_KRT14:c.280G>A protEffect p.Ala94Thr HIFD_KRT14:c.280G>A disease not phenotype-associated HIFD_KRT14:c.6C>T commonName c.6C>T HIFD_KRT14:c.6C>T protEffect p.= HIFD_KRT14:c.6C>T disease not phenotype-associated HIFD_KRT14:c.188A>G commonName c.188A>G HIFD_KRT14:c.188A>G protEffect p.Tyr63Cys HIFD_KRT14:c.188A>G disease not phenotype-associated HIFD_KRT14:c.189C>T commonName c.189C>T HIFD_KRT14:c.189C>T protEffect p.= HIFD_KRT14:c.189C>T disease not phenotype-associated HIFD_KRT14:c.193C>T commonName c.193C>T HIFD_KRT14:c.193C>T protEffect p.= HIFD_KRT14:c.193C>T disease not phenotype-associated HIFD_KRT14:c.1322-13A>G commonName c.1322-13A>G HIFD_KRT14:c.1322-13A>G protEffect p.= HIFD_KRT14:c.1322-13A>G disease not phenotype-associated HIFD_KRT17:c.309T>C commonName c.309T>C HIFD_KRT17:c.309T>C protEffect p.= HIFD_KRT17:c.309T>C disease not phenotype-associated HIFD_KRT18:c.418-4C>G commonName c.418-4C>G HIFD_KRT18:c.418-4C>G protEffect p.= HIFD_KRT18:c.418-4C>G disease not phenotype-associated HIFD_KRT18:c.689G>C commonName c.689G>C HIFD_KRT18:c.689G>C protEffect p.Ser230Thr HIFD_KRT18:c.689G>C disease not phenotype-associated HIFD_KRT18:c.993C>T commonName c.993C>T HIFD_KRT18:c.993C>T protEffect p.= HIFD_KRT18:c.993C>T disease not phenotype-associated HIFD_KRT18:c.-15C>T commonName c.-15C>T HIFD_KRT18:c.-15C>T protEffect p.= HIFD_KRT18:c.-15C>T disease not phenotype-associated HIFD_KRT18:c.500+38G>A commonName c.500+38G>A HIFD_KRT18:c.500+38G>A protEffect p.= HIFD_KRT18:c.500+38G>A disease not phenotype-associated HIFD_KRT19:c.-99G>C commonName c.-99G>C HIFD_KRT19:c.-99G>C protEffect p.= HIFD_KRT19:c.-99G>C disease not phenotype-associated HIFD_KRT19:c.685G>A commonName c.685G>A HIFD_KRT19:c.685G>A protEffect p.Val229Met HIFD_KRT19:c.685G>A disease not phenotype-associated HIFD_KRT19:c.179C>G commonName c.179C>G HIFD_KRT19:c.179C>G protEffect p.Ala60Gly HIFD_KRT19:c.179C>G disease not phenotype-associated HIFD_KRT19:c.90C>T commonName c.90C>T HIFD_KRT19:c.90C>T protEffect p.= HIFD_KRT19:c.90C>T disease not phenotype-associated HIFD_KRT19:c.471T>C commonName c.471T>C HIFD_KRT19:c.471T>C protEffect p.= HIFD_KRT19:c.471T>C disease not phenotype-associated HIFD_KRT19:c.552C>T commonName c.552C>T HIFD_KRT19:c.552C>T protEffect p.= HIFD_KRT19:c.552C>T disease not phenotype-associated HIFD_KRT31:c.1097+1G>A commonName c.1097+1G>A HIFD_KRT31:c.1097+1G>A protEffect p.Asn366_Arg416delinsLysX HIFD_KRT31:c.1097+1G>A disease not phenotype-associated HIFD_KRT9:c.426A>C commonName c.426A>C HIFD_KRT9:c.426A>C protEffect p.= HIFD_KRT9:c.426A>C disease not phenotype-associated HIFD_KRT9:c.216C>T commonName c.216C>T HIFD_KRT9:c.216C>T protEffect p.= HIFD_KRT9:c.216C>T disease not phenotype-associated HIFD_KRT9:c.429A>C commonName c.429A>C HIFD_KRT9:c.429A>C protEffect p.= HIFD_KRT9:c.429A>C disease not phenotype-associated HIFD_KRT1:c.720G>A commonName c.720G>A HIFD_KRT1:c.720G>A protEffect p.= HIFD_KRT1:c.720G>A disease not phenotype-associated HIFD_KRT1:c.1389C>T commonName c.1389C>T HIFD_KRT1:c.1389C>T protEffect p.= HIFD_KRT1:c.1389C>T disease not phenotype-associated HIFD_KRT1:c.1413C>A commonName c.1413C>A HIFD_KRT1:c.1413C>A protEffect p.= HIFD_KRT1:c.1413C>A disease not phenotype-associated HIFD_KRT1:c.1657_1677del21 commonName c.1657_1677delGGCTCCGGAGGTAGCAGCTAC HIFD_KRT1:c.1657_1677del21 protEffect p.Gly553_Tyr559del HIFD_KRT1:c.1657_1677del21 phenoCommon IHCM HIFD_KRT1:c.1657_1677del21 disease not phenotype-associated HIFD_KRT1:c.1570_1596del27 commonName c.1570_1596delGGCTACGGCTCTGGAGGTAGCAGCTAT HIFD_KRT1:c.1570_1596del27 protEffect p.Gly524_Tyr532del HIFD_KRT1:c.1570_1596del27 disease not phenotype-associated HIFD_KRT1:c.800G>A commonName c.800G>A HIFD_KRT1:c.800G>A protEffect p.Arg267Gln HIFD_KRT1:c.800G>A disease not phenotype-associated HIFD_KRT1:c.1762G>A commonName c.1762G>A HIFD_KRT1:c.1762G>A protEffect p.Gly588Arg HIFD_KRT1:c.1762G>A disease not phenotype-associated HIFD_KRT1:c.1360G>T commonName c.1360G>T HIFD_KRT1:c.1360G>T protEffect p.Ala454Ser HIFD_KRT1:c.1360G>T disease not phenotype-associated HIFD_KRT1:c.963+52T>G commonName c.963+52T>G HIFD_KRT1:c.963+52T>G protEffect p.= HIFD_KRT1:c.963+52T>G disease not phenotype-associated HIFD_KRT1:c.75C>T commonName c.75C>T HIFD_KRT1:c.75C>T protEffect p.= HIFD_KRT1:c.75C>T disease not phenotype-associated HIFD_KRT1:c.868-31T>C commonName c.868-31T>C HIFD_KRT1:c.868-31T>C protEffect p.= HIFD_KRT1:c.868-31T>C disease not phenotype-associated HIFD_KRT1:c.1072A>T commonName c.1072A>T HIFD_KRT1:c.1072A>T protEffect p.Asn358Tyr HIFD_KRT1:c.1072A>T disease not phenotype-associated HIFD_KRT1:c.720A>G commonName c.720A>G HIFD_KRT1:c.720A>G protEffect p.= HIFD_KRT1:c.720A>G disease not phenotype-associated HIFD_KRT5:c.237A>T commonName c.237A>T HIFD_KRT5:c.237A>T protEffect p.Arg79Ser HIFD_KRT5:c.237A>T disease not phenotype-associated HIFD_KRT5:c.591C>A commonName c.591C>A HIFD_KRT5:c.591C>A protEffect p.Asp197Glu HIFD_KRT5:c.591C>A disease not phenotype-associated HIFD_KRT5:c.1159A>T commonName c.1159A>T HIFD_KRT5:c.1159A>T protEffect p.Thr387Ser HIFD_KRT5:c.1159A>T disease not phenotype-associated HIFD_KRT5:c.240A>T commonName c.240A>T HIFD_KRT5:c.240A>T protEffect p.= HIFD_KRT5:c.240A>T disease not phenotype-associated HIFD_KRT5:c.594C>T commonName c.594C>T HIFD_KRT5:c.594C>T protEffect p.= HIFD_KRT5:c.594C>T disease not phenotype-associated HIFD_KRT5:c.630T>C commonName c.630T>C HIFD_KRT5:c.630T>C protEffect p.= HIFD_KRT5:c.630T>C disease not phenotype-associated HIFD_KRT5:c.382G>C commonName c.382G>C HIFD_KRT5:c.382G>C protEffect p.Gly128Arg HIFD_KRT5:c.382G>C disease not phenotype-associated HIFD_KRT5:c.513G>A commonName c.513G>A HIFD_KRT5:c.513G>A protEffect p.= HIFD_KRT5:c.513G>A disease not phenotype-associated HIFD_KRT5:c.732G>A commonName c.732G>A HIFD_KRT5:c.732G>A protEffect p.= HIFD_KRT5:c.732G>A disease not phenotype-associated HIFD_KRT5:c.1065A>C commonName c.1065A>C HIFD_KRT5:c.1065A>C protEffect p.= HIFD_KRT5:c.1065A>C disease not phenotype-associated HIFD_KRT5:c.1582A>G commonName c.1582A>G HIFD_KRT5:c.1582A>G protEffect p.Ser528Asp HIFD_KRT5:c.1582A>G disease not phenotype-associated HIFD_KRT5:c.1627G>A commonName c.1627G>A HIFD_KRT5:c.1627G>A protEffect p.Gly543Ser HIFD_KRT5:c.1627G>A disease not phenotype-associated HIFD_KRT5:c.1692C>A commonName c.1692C>A HIFD_KRT5:c.1692C>A protEffect p.= HIFD_KRT5:c.1692C>A disease not phenotype-associated HIFD_KRT5:c.1755G>A commonName c.1755G>A HIFD_KRT5:c.1755G>A protEffect p.= HIFD_KRT5:c.1755G>A disease not phenotype-associated HIFD_KRT5:c.555+9C>T commonName c.555+9C>T HIFD_KRT5:c.555+9C>T protEffect p.= HIFD_KRT5:c.555+9C>T disease not phenotype-associated HIFD_KRT5:c.594C>A commonName c.594C>A HIFD_KRT5:c.594C>A protEffect p.= HIFD_KRT5:c.594C>A disease not phenotype-associated HIFD_KRT5:c.548C>T commonName c.548C>T HIFD_KRT5:c.548C>T protEffect p.Thr183Ile HIFD_KRT5:c.548C>T disease not phenotype-associated HIFD_KRT5:c.556-1G>T commonName c.556-1G>T HIFD_KRT5:c.556-1G>T protEffect p.? HIFD_KRT5:c.556-1G>T disease not phenotype-associated HIFD_KRT75:c.481G>A commonName c.481G>A HIFD_KRT75:c.481G>A protEffect p.Ala161Thr HIFD_KRT75:c.481G>A phenoCommon PFB HIFD_KRT75:c.481G>A disease not phenotype-associated HIFD_KRT8:c.681A>G commonName c.681A>G HIFD_KRT8:c.681A>G protEffect p.= HIFD_KRT8:c.681A>G disease not phenotype-associated HIFD_KRT8:c.216G>A commonName c.216G>A HIFD_KRT8:c.216G>A protEffect p.= HIFD_KRT8:c.216G>A disease not phenotype-associated HIFD_KRT8:c.955G>T commonName c.955G>T HIFD_KRT8:c.955G>T protEffect p.Ala319Ser HIFD_KRT8:c.955G>T disease not phenotype-associated HIFD_KRT8:c.*8C>T commonName c.*8C>T HIFD_KRT8:c.*8C>T protEffect p.= HIFD_KRT8:c.*8C>T disease not phenotype-associated HIFD_KRT8:c.*31C>T commonName c.*31C>T HIFD_KRT8:c.*31C>T protEffect p.= HIFD_KRT8:c.*31C>T disease not phenotype-associated HIFD_KRT8:c.*38G>A commonName c.*38G>A HIFD_KRT8:c.*38G>A protEffect p.= HIFD_KRT8:c.*38G>A disease not phenotype-associated HIFD_KRT8:c.1261+10delC commonName c.1261+10delC HIFD_KRT8:c.1261+10delC protEffect p.= HIFD_KRT8:c.1261+10delC disease not phenotype-associated HIFD_KRT8:c.1261+20G>A commonName c.1261+20G>A HIFD_KRT8:c.1261+20G>A protEffect p.= HIFD_KRT8:c.1261+20G>A disease not phenotype-associated HIFD_KRT81:c.1053T>C commonName c.1053T>C HIFD_KRT81:c.1053T>C protEffect p.= HIFD_KRT81:c.1053T>C disease not phenotype-associated HIFD_KRT81:c.1077A>G commonName c.1077A>G HIFD_KRT81:c.1077A>G protEffect p.= HIFD_KRT81:c.1077A>G disease not phenotype-associated HIFD_KRT81:c.1027-13_1027-14insT commonName c.1027-13_1027-14insT HIFD_KRT81:c.1027-13_1027-14insT protEffect p.= HIFD_KRT81:c.1027-13_1027-14insT disease not phenotype-associated HIFD_KRT81:c.735+4C>T commonName c.735+4C>T HIFD_KRT81:c.735+4C>T protEffect p.= HIFD_KRT81:c.735+4C>T disease not phenotype-associated HIFD_KRT83:c.445T>C commonName c.445T>C HIFD_KRT83:c.445T>C protEffect p.Cys149Arg HIFD_KRT83:c.445T>C disease not phenotype-associated HIFD_KRT83:c.558C>T commonName c.558C>T HIFD_KRT83:c.558C>T protEffect p.= HIFD_KRT83:c.558C>T disease not phenotype-associated HIFD_KRT86:c.197G>A commonName c.197G>A HIFD_KRT86:c.197G>A protEffect p.Arg66His HIFD_KRT86:c.197G>A disease not phenotype-associated HIFD_KRT86:c.348G>A commonName c.348G>A HIFD_KRT86:c.348G>A protEffect p.= HIFD_KRT86:c.348G>A disease not phenotype-associated HIFD_KRT86:c.416A>C commonName c.416A>C HIFD_KRT86:c.416A>C protEffect p.Gln139Pro HIFD_KRT86:c.416A>C disease not phenotype-associated HIFD_GFAP:c.-518T>A commonName c.-518T>A HIFD_GFAP:c.-518T>A protEffect p.= HIFD_GFAP:c.-518T>A disease not phenotype-associated HIFD_GFAP:c.-264C>A commonName c.-264C>A HIFD_GFAP:c.-264C>A protEffect p.= HIFD_GFAP:c.-264C>A disease not phenotype-associated HIFD_GFAP:c.858G>A commonName c.858G>A HIFD_GFAP:c.858G>A protEffect p.= HIFD_GFAP:c.858G>A disease not phenotype-associated HIFD_GFAP:c.883G>A commonName c.883G>A HIFD_GFAP:c.883G>A protEffect p.Asp295Asn HIFD_GFAP:c.883G>A disease not phenotype-associated HIFD_GFAP:c.140C>T commonName c.140C>T HIFD_GFAP:c.140C>T protEffect p.Pro47Leu HIFD_GFAP:c.140C>T disease not phenotype-associated HIFD_GFAP:c.619-12C>T commonName c.619-12C>T HIFD_GFAP:c.619-12C>T protEffect p.? HIFD_GFAP:c.619-12C>T disease not phenotype-associated HIFD_GFAP:c.523-9C>G commonName c.523-9C>G HIFD_GFAP:c.523-9C>G protEffect p.? HIFD_GFAP:c.523-9C>G disease not phenotype-associated HIFD_GFAP:c.1128-66C>G commonName c.1128-66C>G HIFD_GFAP:c.1128-66C>G protEffect p.= HIFD_GFAP:c.1128-66C>G disease not phenotype-associated HIFD_GFAP:c.96T>C commonName c.96T>C HIFD_GFAP:c.96T>C protEffect p.= HIFD_GFAP:c.96T>C disease not phenotype-associated HIFD_GFAP:c.907-100A>C commonName c.907-100A>C HIFD_GFAP:c.907-100A>C protEffect p.= HIFD_GFAP:c.907-100A>C disease not phenotype-associated HIFD_GFAP:c.1258-86C>T commonName c.1258-86C>T HIFD_GFAP:c.1258-86C>T protEffect p.= HIFD_GFAP:c.1258-86C>T disease not phenotype-associated HIFD_GFAP:c.*28C>G commonName c.*28C>G HIFD_GFAP:c.*28C>G protEffect p.= HIFD_GFAP:c.*28C>G disease not phenotype-associated HIFD_GFAP:c.*33C>G commonName c.*33C>G HIFD_GFAP:c.*33C>G protEffect p.= HIFD_GFAP:c.*33C>G disease not phenotype-associated HIFD_GFAP:c.619-96G>T commonName c.619-96G>T HIFD_GFAP:c.619-96G>T protEffect p.= HIFD_GFAP:c.619-96G>T disease not phenotype-associated HIFD_GFAP:c.781-826G>A commonName c.781-826G>A HIFD_GFAP:c.781-826G>A protEffect p.= HIFD_GFAP:c.781-826G>A disease not phenotype-associated HIFD_GFAP:c.1128-151C>T commonName c.1128-151C>T HIFD_GFAP:c.1128-151C>T protEffect p.= HIFD_GFAP:c.1128-151C>T disease not phenotype-associated HIFD_GFAP:c.1171+471C>T commonName c.1171+471C>T HIFD_GFAP:c.1171+471C>T protEffect p.= HIFD_GFAP:c.1171+471C>T disease not phenotype-associated HIFD_GFAP:c.1171+501C>A commonName c.1171+501C>A HIFD_GFAP:c.1171+501C>A protEffect p.= HIFD_GFAP:c.1171+501C>A disease not phenotype-associated HIFD_GFAP:c.1172-306A>G commonName c.1172-306A>G HIFD_GFAP:c.1172-306A>G protEffect p.= HIFD_GFAP:c.1172-306A>G disease not phenotype-associated HIFD_GFAP:c.523-76G>C commonName c.523-76G>C HIFD_GFAP:c.523-76G>C protEffect p.= HIFD_GFAP:c.523-76G>C disease not phenotype-associated HIFD_GFAP:c.906+81A>G commonName c.906+81A>G HIFD_GFAP:c.906+81A>G protEffect p.= HIFD_GFAP:c.906+81A>G disease not phenotype-associated HIFD_GFAP:c.*32C>G commonName c.*32C>G HIFD_GFAP:c.*32C>G protEffect p.= HIFD_GFAP:c.*32C>G disease not phenotype-associated HIFD_PRPH:c.26G>A commonName c.26G>A HIFD_PRPH:c.26G>A protEffect p.Arg9Gln HIFD_PRPH:c.26G>A disease not phenotype-associated HIFD_PRPH:c.63C>T commonName c.63C>T HIFD_PRPH:c.63C>T protEffect p.= HIFD_PRPH:c.63C>T disease not phenotype-associated HIFD_PRPH:c.829G>A commonName c.829G>A HIFD_PRPH:c.829G>A protEffect p.Ala276Thr HIFD_PRPH:c.829G>A disease not phenotype-associated HIFD_PRPH:c.1083C>G commonName c.1083C>G HIFD_PRPH:c.1083C>G protEffect p.= HIFD_PRPH:c.1083C>G disease not phenotype-associated HIFD_PRPH:c.1108A>G commonName c.1108A>G HIFD_PRPH:c.1108A>G protEffect p.= HIFD_PRPH:c.1108A>G disease not phenotype-associated HIFD_PRPH:c.-23G>C commonName c.-23G>C HIFD_PRPH:c.-23G>C protEffect p.= HIFD_PRPH:c.-23G>C disease not phenotype-associated HIFD_PRPH:c.545+69G>C commonName c.545+69G>C HIFD_PRPH:c.545+69G>C protEffect p.= HIFD_PRPH:c.545+69G>C disease not phenotype-associated HIFD_PRPH:c.607-77A>C commonName c.607-77A>C HIFD_PRPH:c.607-77A>C protEffect p.= HIFD_PRPH:c.607-77A>C disease not phenotype-associated HIFD_PRPH:c.1217+27C>A commonName c.1217+27C>A HIFD_PRPH:c.1217+27C>A protEffect p.= HIFD_PRPH:c.1217+27C>A disease not phenotype-associated HIFD_PRPH:c.1217+43C>A commonName c.1217+43C>A HIFD_PRPH:c.1217+43C>A protEffect p.= HIFD_PRPH:c.1217+43C>A disease not phenotype-associated HIFD_PRPH:c.1267+58T>C commonName c.1267+58T>C HIFD_PRPH:c.1267+58T>C protEffect p.= HIFD_PRPH:c.1267+58T>C disease not phenotype-associated HIFD_PRPH:c.1348-36_1348-35insA commonName c.1348-36_1348-35insA HIFD_PRPH:c.1348-36_1348-35insA protEffect p.= HIFD_PRPH:c.1348-36_1348-35insA disease not phenotype-associated HIFD_PRPH:c.702+27T>C commonName c.702+27T>C HIFD_PRPH:c.702+27T>C protEffect p.= HIFD_PRPH:c.702+27T>C disease not phenotype-associated HIFD_PRPH:c.606+52T>G commonName c.606+52T>G HIFD_PRPH:c.606+52T>G protEffect p.= HIFD_PRPH:c.606+52T>G disease not phenotype-associated HIFD_PRPH:c.1107A>G commonName c.1107A>G HIFD_PRPH:c.1107A>G protEffect p.= HIFD_PRPH:c.1107A>G disease not phenotype-associated HIFD_PRPH:c.*82C>A commonName c.*82C>A HIFD_PRPH:c.*82C>A protEffect p.= HIFD_PRPH:c.*82C>A disease not phenotype-associated HIFD_NEF3:c.387T>G commonName c.387T>G HIFD_NEF3:c.387T>G protEffect p.Ile129Met HIFD_NEF3:c.387T>G disease not phenotype-associated HIFD_NEF3:c.1104T>C commonName c.1104T>C HIFD_NEF3:c.1104T>C protEffect p.= HIFD_NEF3:c.1104T>C disease not phenotype-associated HIFD_NEF3:c.1420A>G commonName c.1420A>G HIFD_NEF3:c.1420A>G protEffect p.Thr474Ala HIFD_NEF3:c.1420A>G disease not phenotype-associated HIFD_NEF3:c.447G>C commonName c.447G>C HIFD_NEF3:c.447G>C protEffect p.= HIFD_NEF3:c.447G>C disease not phenotype-associated HIFD_NEF3:c.1423G>A phenoCommon PD HIFD_NEF3:c.2089G>C phenoCommon PD HIFD_NEF3:c.2174C>A commonName c.2174C>A HIFD_NEF3:c.2174C>A protEffect p.Pro725Gln HIFD_NEF3:c.2174C>A phenoCommon PD HIFD_NEF3:c.2174C>A disease not phenotype-associated HIFD_NEF3:c.2485_2487delGTT commonName c.2485_2487delGTT HIFD_NEF3:c.2485_2487delGTT protEffect p.Val829del HIFD_NEF3:c.2485_2487delGTT phenoCommon PD HIFD_NEF3:c.2485_2487delGTT disease not phenotype-associated HIFD_NEFH:c.1844C>T commonName c.1844C>T HIFD_NEFH:c.1844C>T protEffect p.Pro615Leu HIFD_NEFH:c.1844C>T disease not phenotype-associated HIFD_NEFH:c.472C>T commonName c.472C>T HIFD_NEFH:c.472C>T protEffect p.= HIFD_NEFH:c.472C>T disease not phenotype-associated HIFD_NEFH:c.1203T>C commonName c.1203T>C HIFD_NEFH:c.1203T>C protEffect p.= HIFD_NEFH:c.1203T>C disease not phenotype-associated HIFD_NEFH:c.2414C>A commonName c.2414C>A HIFD_NEFH:c.2414C>A protEffect p.Ala805Glu HIFD_NEFH:c.2414C>A disease not phenotype-associated HIFD_NEFH:c.1375G>A commonName c.1375G>A HIFD_NEFH:c.1375G>A protEffect p.Glu459Lys HIFD_NEFH:c.1375G>A disease not phenotype-associated HIFD_NEFH:c.1387G>A commonName c.1387G>A HIFD_NEFH:c.1387G>A protEffect p.Glu463Lys HIFD_NEFH:c.1387G>A phenoCommon NIFID HIFD_NEFH:c.1387G>A disease not phenotype-associated HIFD_NEFH:c.1844C>T phenoCommon NIFID HIFD_NEFH:c.2232C>T commonName c.2232C>T HIFD_NEFH:c.2232C>T protEffect p.= HIFD_NEFH:c.2232C>T phenoCommon NIFID HIFD_NEFH:c.2232C>T disease not phenotype-associated HIFD_NEFH:c.2234A>T commonName c.2234A>T HIFD_NEFH:c.2234A>T protEffect p.Lys745Met HIFD_NEFH:c.2234A>T phenoCommon NIFID HIFD_NEFH:c.2234A>T disease not phenotype-associated HIFD_NEFH:c.2414A>C commonName c.2414A>C HIFD_NEFH:c.2414A>C protEffect p.Glu805Ala HIFD_NEFH:c.2414A>C phenoCommon NIFID HIFD_NEFH:c.2414A>C disease not phenotype-associated HIFD_NEFH:c.2784A>G commonName c.2784A>G HIFD_NEFH:c.2784A>G protEffect p.= HIFD_NEFH:c.2784A>G phenoCommon NIFID HIFD_NEFH:c.2784A>G disease not phenotype-associated HIFD_NEFL:c.667C>T commonName c.667C>T HIFD_NEFL:c.667C>T protEffect p.= HIFD_NEFL:c.667C>T disease not phenotype-associated HIFD_NEFL:c.1492G>A commonName c.1492G>A HIFD_NEFL:c.1492G>A protEffect p.Ala498Thr HIFD_NEFL:c.1492G>A disease not phenotype-associated HIFD_NEFL:c.227T>C commonName c.227T>C HIFD_NEFL:c.227T>C protEffect p.Val76Ala HIFD_NEFL:c.227T>C disease not phenotype-associated HIFD_NEFL:c.279G>A commonName c.279G>A HIFD_NEFL:c.279G>A protEffect p.= HIFD_NEFL:c.279G>A disease not phenotype-associated HIFD_NEFL:c.-44_-42delGGCinsATG commonName c.-44_-42delGGCinsATG HIFD_NEFL:c.-44_-42delGGCinsATG protEffect p.= HIFD_NEFL:c.-44_-42delGGCinsATG disease not phenotype-associated HIFD_NEFL:c.189G>A commonName c.189G>A HIFD_NEFL:c.189G>A protEffect p.= HIFD_NEFL:c.189G>A disease not phenotype-associated HIFD_NEFL:c.123C>T commonName c.123C>T HIFD_NEFL:c.123C>T protEffect p.= HIFD_NEFL:c.123C>T disease not phenotype-associated HIFD_NEFL:c.1212C>T commonName c.1212C>T HIFD_NEFL:c.1212C>T protEffect p.= HIFD_NEFL:c.1212C>T disease not phenotype-associated HIFD_NEFL:c.1458C>T commonName c.1458C>T HIFD_NEFL:c.1458C>T protEffect p.= HIFD_NEFL:c.1458C>T disease not phenotype-associated HIFD_NEFL:c.720C>T commonName c.720C>T HIFD_NEFL:c.720C>T protEffect p.= HIFD_NEFL:c.720C>T disease not phenotype-associated HIFD_NEFL:c.423G>A commonName c.423G>A HIFD_NEFL:c.423G>A protEffect p.= HIFD_NEFL:c.423G>A disease not phenotype-associated HIFD_NEFL:c.1045-23_1045-22insT commonName c.1045-23_1045-22insT HIFD_NEFL:c.1045-23_1045-22insT protEffect p.? HIFD_NEFL:c.1045-23_1045-22insT disease not phenotype-associated HIFD_NEFL:c.45G>A commonName c.45G>A HIFD_NEFL:c.45G>A protEffect p.= HIFD_NEFL:c.45G>A disease not phenotype-associated HIFD_NEFL:c.969G>T commonName c.969G>T HIFD_NEFL:c.969G>T protEffect p.= HIFD_NEFL:c.969G>T disease not phenotype-associated HIFD_NEFL:c.1560C>A commonName c.1560C>A HIFD_NEFL:c.1560C>A protEffect p.= HIFD_NEFL:c.1560C>A disease not phenotype-associated HIFD_NEFL:c.-48_-47delTC commonName c.-48_-47delTC HIFD_NEFL:c.-48_-47delTC protEffect p.= HIFD_NEFL:c.-48_-47delTC disease not phenotype-associated HIFD_NEFL:c.1590T>G commonName c.1590T>G HIFD_NEFL:c.1590T>G protEffect p.= HIFD_NEFL:c.1590T>G disease not phenotype-associated HIFD_NEFL:c.1329C>A commonName c.1329C>A HIFD_NEFL:c.1329C>A protEffect p.= HIFD_NEFL:c.1329C>A disease not phenotype-associated HIFD_NEFL:c.227T>A commonName c.227T>A HIFD_NEFL:c.227T>A protEffect p.Val76Ala HIFD_NEFL:c.227T>A disease not phenotype-associated HIFD_LMNA:c.51C>T commonName c.51C>T HIFD_LMNA:c.51C>T protEffect p.= HIFD_LMNA:c.51C>T disease not phenotype-associated HIFD_LMNA:c.861T>C commonName c.861T>C HIFD_LMNA:c.861T>C protEffect p.= HIFD_LMNA:c.861T>C disease not phenotype-associated HIFD_LMNA:c.1338T>C commonName c.1338T>C HIFD_LMNA:c.1338T>C protEffect p.= HIFD_LMNA:c.1338T>C disease not phenotype-associated HIFD_LMNA:c.810+13G>T commonName c.810+13G>T HIFD_LMNA:c.810+13G>T protEffect p.? HIFD_LMNA:c.810+13G>T disease not phenotype-associated HIFD_LMNA:c.1489-41C>T commonName c.1489-41C>T HIFD_LMNA:c.1489-41C>T protEffect p.? HIFD_LMNA:c.1489-41C>T disease not phenotype-associated HIFD_LMNA:c.1609-5A>G commonName c.1609-5A>G HIFD_LMNA:c.1609-5A>G protEffect p.? HIFD_LMNA:c.1609-5A>G disease not phenotype-associated HIFD_LMNA:c.1908C>T commonName c.1908C>T HIFD_LMNA:c.1908C>T protEffect p.= HIFD_LMNA:c.1908C>T disease not phenotype-associated HIFD_LMNA:c.1157+16G>A commonName c.1157+16G>A HIFD_LMNA:c.1157+16G>A protEffect p.? HIFD_LMNA:c.1157+16G>A phenoCommon MADA HIFD_LMNA:c.1157+16G>A disease not phenotype-associated HIFD_LMNA:c.1028G>A commonName c.1028G>A HIFD_LMNA:c.1028G>A protEffect p.Arg343Gln HIFD_LMNA:c.1028G>A disease not phenotype-associated HIFD_LMNA:c.723G>A commonName c.723G>A HIFD_LMNA:c.723G>A protEffect p.= HIFD_LMNA:c.723G>A disease not phenotype-associated HIFD_LMNA:c.810+61C>T commonName c.810+61C>T HIFD_LMNA:c.810+61C>T protEffect p.? HIFD_LMNA:c.810+61C>T disease not phenotype-associated HIFD_LMNA:c.1489-41C>T phenoCommon MADA HIFD_LMNA:c.1098G>A commonName c.1098G>A HIFD_LMNA:c.1098G>A protEffect p.= HIFD_LMNA:c.1098G>A disease not phenotype-associated HIFD_LMNA:c.1299C>T commonName c.1299C>T HIFD_LMNA:c.1299C>T protEffect p.= HIFD_LMNA:c.1299C>T disease not phenotype-associated HIFD_LMNA:c.612G>A commonName c.612G>A HIFD_LMNA:c.612G>A protEffect p.= HIFD_LMNA:c.612G>A disease not phenotype-associated HIFD_LMNA:c.1338T>C phenoCommon WRN HIFD_LMNA:c.*79G>C commonName c.*79G>C HIFD_LMNA:c.*79G>C protEffect p.= HIFD_LMNA:c.*79G>C disease not phenotype-associated HIFD_LMNA:c.937-7C>G commonName c.937-7C>G HIFD_LMNA:c.937-7C>G protEffect p.? HIFD_LMNA:c.937-7C>G disease not phenotype-associated HIFD_LMNA:c.357-20C>T commonName c.357-20C>T HIFD_LMNA:c.357-20C>T protEffect p.? HIFD_LMNA:c.357-20C>T disease not phenotype-associated HIFD_LMNA:c.811-13T>A commonName c.811-13T>A HIFD_LMNA:c.811-13T>A protEffect p.? HIFD_LMNA:c.811-13T>A disease not phenotype-associated HIFD_LMNA:c.1968+26A>G commonName c.1968+26A>G HIFD_LMNA:c.1968+26A>G protEffect p.? HIFD_LMNA:c.1968+26A>G disease not phenotype-associated HIFD_LMNA:c.*27G>A commonName c.*27G>A HIFD_LMNA:c.*27G>A protEffect p.? HIFD_LMNA:c.*27G>A disease not phenotype-associated HIFD_LMNA:c.1381-8C>G commonName c.1381-8C>G HIFD_LMNA:c.1381-8C>G protEffect p.? HIFD_LMNA:c.1381-8C>G disease not phenotype-associated HIFD_LMNA:c.896T>C commonName c.896T>C HIFD_LMNA:c.896T>C protEffect p.Ile299Thr HIFD_LMNA:c.896T>C disease not phenotype-associated HIFD_LMNA:c.640-10A>C commonName c.640-10A>C HIFD_LMNA:c.640-10A>C protEffect p.? HIFD_LMNA:c.640-10A>C disease not phenotype-associated HIFD_LMNA:c.811-10T>A commonName c.811-10T>A HIFD_LMNA:c.811-10T>A protEffect p.? HIFD_LMNA:c.811-10T>A disease not phenotype-associated HIFD_LMNA:c.1158-38G>A commonName c.1158-38G>A HIFD_LMNA:c.1158-38G>A protEffect p.? HIFD_LMNA:c.1158-38G>A disease not phenotype-associated HIFD_LMNB1:c.414T>C commonName c.414T>C HIFD_LMNB1:c.414T>C protEffect p.= HIFD_LMNB1:c.414T>C disease not phenotype-associated HIFD_LMNB1:c.852T>C commonName c.852T>C HIFD_LMNB1:c.852T>C protEffect p.= HIFD_LMNB1:c.852T>C disease not phenotype-associated HIFD_LMNB1:c.1502C>T commonName c.1502C>T HIFD_LMNB1:c.1502C>T protEffect p.Ala501Val HIFD_LMNB1:c.1502C>T disease not phenotype-associated HIFD_LMNB1:c.*18C>T commonName c.*18C>T HIFD_LMNB1:c.*18C>T protEffect p.= HIFD_LMNB1:c.*18C>T disease not phenotype-associated HIFD_LMNB1:c.*43C>T commonName c.*43C>T HIFD_LMNB1:c.*43C>T protEffect p.= HIFD_LMNB1:c.*43C>T disease not phenotype-associated HIFD_LMNB2:c.82G>A commonName c.82G>A HIFD_LMNB2:c.82G>A protEffect p.= HIFD_LMNB2:c.82G>A disease not phenotype-associated TP53_g.12512G>A commonName G>A TP53_g.12512G>A protEffect p.Arg175His TP53_g.12416T>C commonName T>C TP53_g.12416T>C protEffect p.Val143Ala TP53_g.12382A>C commonName A>C TP53_g.12382A>C protEffect p.Lys132Gln TP53_g.13833G>A commonName G>A TP53_g.13833G>A protEffect p.Glu285Lys TP53_g.13384G>C commonName G>C TP53_g.13384G>C protEffect p.Arg249Ser TP53_g.13819G>A commonName G>A TP53_g.13819G>A protEffect p.Arg280Lys TP53_g.12457G>T commonName G>T TP53_g.12457G>T protEffect p.Val157Phe TP53_g.13384G>T commonName G>T TP53_g.13384G>T protEffect p.Arg249Ser TP53_g.13836_13843del commonName del8 TP53_g.13798G>A commonName G>A TP53_g.13798G>A protEffect p.Arg273His TP53_g.12443C>T commonName C>T TP53_g.12443C>T protEffect p.Pro152Leu TP53_g.12515G>T commonName G>T TP53_g.12515G>T protEffect p.Cys176Phe TP53_g.12451A>G commonName A>G TP53_g.12451A>G protEffect p.Thr155Ala TP53_g.13359C>T commonName C>T TP53_g.13359C>T protEffect p.Ser241Phe TP53_g.13380G>A commonName G>A TP53_g.13380G>A protEffect p.Arg248Gln TP53_g.12439del commonName del1 TP53_g.12523C>A commonName C>A TP53_g.12523C>A protEffect p.His179Asn TP53_g.13382A>G commonName A>G TP53_g.13382A>G protEffect p.Arg249Gly TP53_g.12650T>G commonName T>G TP53_g.12650T>G protEffect p.Leu194Arg TP53_g.13373A>G commonName A>G TP53_g.13373A>G protEffect p.Met246Val TP53_g.13826G>A commonName G>A TP53_g.13826G>A protEffect p.Arg282Arg TP53_g.13827del commonName del1 TP53_g.13794G>A commonName G>A TP53_g.13794G>A protEffect p.Val272Met TP53_g.12655C>T commonName C>T TP53_g.12655C>T protEffect p.Arg196STOP TP53_g.12727T>C commonName T>C TP53_g.12727T>C protEffect p.Tyr220His TP53_g.12444G>A commonName G>A TP53_g.12444G>A protEffect p.Pro152Pro TP53_g.13820A>T commonName A>T TP53_g.13820A>T protEffect p.Arg280Ser TP53_g.13810G>A commonName G>A TP53_g.13810G>A protEffect p.Cys277Tyr TP53_g.12523C>T commonName C>T TP53_g.12523C>T protEffect p.His179Tyr TP53_g.12410G>A commonName G>A TP53_g.12410G>A protEffect p.Cys141Tyr TP53_g.13353A>G commonName A>G TP53_g.13353A>G protEffect p.Asn239Ser TP53_g.13379C>T commonName C>T TP53_g.13379C>T protEffect p.Arg248Trp TP53_g.12384_12385delinsCT commonName GA>CT TP53_g.12384_12385delinsCT protEffect K132N;M133L] TP53_g.13822A>G commonName A>G TP53_g.13822A>G protEffect p.Asp281Gly TP53_g.13797C>T commonName C>T TP53_g.13797C>T protEffect p.Arg273Cys TP53_g.12715G>A commonName G>A TP53_g.12715G>A protEffect p.Val216Met TP53_g.12390T>A commonName T>A TP53_g.12390T>A protEffect p.Phe134Leu TP53_g.13997C>T commonName C>T TP53_g.13997C>T protEffect p.Pro309Ser TP53_g.13857del commonName del1 TP53_g.12649C>T commonName C>T TP53_g.12649C>T protEffect p.Leu194Phe TP53_g.12490_12520del commonName del31 TP53_g.12511C>A commonName C>A TP53_g.12511C>A protEffect p.Arg175Ser TP53_g.13367G>A commonName G>A TP53_g.13367G>A protEffect p.Gly244Ser TP53_g.11559C>T commonName C>T TP53_g.11559C>T protEffect p.Arg110Cys TP53_g.17950del commonName del1 TP53_g.12401C>T commonName C>T TP53_g.12401C>T protEffect p.Ala138Val TP53_g.13824C>T commonName C>T TP53_g.13824C>T protEffect p.Arg282Trp TP53_g.12374C>A commonName C>A TP53_g.12374C>A protEffect p.Ala129Asp TP53_g.12462C>T commonName C>T TP53_g.12462C>T protEffect p.Arg158Arg TP53_g.13791G>A commonName G>A TP53_g.13791G>A protEffect p.Glu271Lys TP53_g.13352A>G commonName A>G TP53_g.13352A>G protEffect p.Asn239Asp TP53_g.12412del commonName del1 TP53_g.12511C>G commonName C>G TP53_g.12511C>G protEffect p.Arg175Gly TP53_g.11490_11497del commonName del8 TP53_g.13324T>A commonName T>A TP53_g.13324T>A protEffect p.Cys229STOP TP53_g.13348G>A commonName G>A TP53_g.13348G>A protEffect p.Met237Ile TP53_g.12647A>G commonName A>G TP53_g.12647A>G protEffect p.His193Arg TP53_g.13810G>T commonName G>T TP53_g.13810G>T protEffect p.Cys277Phe TP53_g.12449G>T commonName G>T TP53_g.12449G>T protEffect p.Gly154Val TP53_g.12505G>T commonName G>T TP53_g.12505G>T protEffect p.Val173Leu TP53_g.12686del commonName del1 TP53_g.12706C>T commonName C>T TP53_g.12706C>T protEffect p.Arg213STOP TP53_g.12515G>A commonName G>A TP53_g.12515G>A protEffect p.Cys176Tyr TP53_g.30017_30018ins25 commonName ins25 TP53_g.12683A>G commonName A>G TP53_g.12683A>G protEffect p.Tyr205Cys TP53_g.13823C>G commonName C>G TP53_g.13823C>G protEffect p.Asp281Glu TP53_g.12518C>G commonName C>G TP53_g.12518C>G protEffect p.Pro177Arg TP53_g.13332T>G commonName T>G TP53_g.13332T>G protEffect p.Ile232Ser TP53_g.12443_12444ins1 commonName ins1 TP53_g.13803_13804ins1 commonName ins1 TP53_g.12506T>G commonName T>G TP53_g.12506T>G protEffect p.Val173Gly TP53_g.12386T>A commonName T>A TP53_g.12386T>A protEffect p.Met133Lys TP53_g.13409G>A commonName G>A TP53_g.13409G>A protEffect p.Glu258Lys TP53_g.12716T>A commonName T>A TP53_g.12716T>A protEffect p.Val216Glu TP53_g.13344A>G commonName A>G TP53_g.13344A>G protEffect p.Tyr236Cys TP53_g.12419A>C commonName A>C TP53_g.12419A>C protEffect p.Gln144Pro TP53_g.13338A>G commonName A>G TP53_g.13338A>G protEffect p.Tyr234Cys TP53_g.30015_30029del commonName del15 TP53_g.13350G>A commonName G>A TP53_g.13350G>A protEffect p.Cys238Tyr TP53_g.12475T>C commonName T>C TP53_g.12475T>C protEffect p.Tyr163His TP53_g.13839G>T commonName G>T TP53_g.13839G>T protEffect p.Glu287STOP TP53_g.13397_13398delinsGA commonName AT>GA TP53_g.13397_13398delinsGA protEffect p.Ile254Asp TP53_g.14045_14058del commonName del14 TP53_g.12461G>A commonName G>A TP53_g.12461G>A protEffect p.Arg158His TP53_g.12707G>A commonName G>A TP53_g.12707G>A protEffect p.Arg213Gln TP53_g.13337T>C commonName T>C TP53_g.13337T>C protEffect p.Tyr234His TP53_g.13403A>G commonName A>G TP53_g.13403A>G protEffect p.Thr256Ala TP53_g.13413A>G commonName A>G TP53_g.13413A>G protEffect p.Asp259Gly TP53_g.13415T>G commonName T>G TP53_g.13415T>G protEffect p.Ser260Ala TP53_g.13347T>G commonName T>G TP53_g.13347T>G protEffect p.Met237Arg TP53_g.13367G>T commonName G>T TP53_g.13367G>T protEffect p.Gly244Cys TP53_g.13359C>G commonName C>G TP53_g.13359C>G protEffect p.Ser241Cys TP53_g.13371G>C commonName G>C TP53_g.13371G>C protEffect p.Gly245Ala TP53_g.13872G>T commonName G>T TP53_g.13872G>T protEffect p.Glu298STOP TP53_g.12536C>G commonName C>G TP53_g.12536C>G protEffect p.Ser183STOP TP53_g.13343_13366del commonName del24 TP53_g.13827C>T commonName C>T TP53_g.13827C>T protEffect p.Arg283Cys TP53_g.12728A>G commonName A>G TP53_g.12728A>G protEffect p.Tyr220Cys TP53_g.13836G>A commonName G>A TP53_g.13836G>A protEffect p.Glu286Lys TP53_g.12392G>A commonName G>A TP53_g.12392G>A protEffect p.Cys135Tyr TP53_g.12700A>G commonName A>G TP53_g.12700A>G protEffect p.Thr211Ala TP53_g.13361T>C commonName T>C TP53_g.13361T>C protEffect p.Cys242Arg TP53_g.12439C>T commonName C>T TP53_g.12439C>T protEffect p.Pro151Ser TP53_g.13338A>C commonName A>C TP53_g.13338A>C protEffect p.Tyr234Ser TP53_g.12505G>C commonName G>C TP53_g.12505G>C protEffect p.Val173Leu TP53_g.12384G>C commonName G>C TP53_g.12384G>C protEffect p.Lys132Asn TP53_g.12405G>C commonName G>C TP53_g.12405G>C protEffect p.Lys139Asn TP53_g.12400_12417del commonName del18 TP53_g.13348G>T commonName G>T TP53_g.13348G>T protEffect p.Met237Ile TP53_g.12455G>C commonName G>C TP53_g.12455G>C protEffect p.Arg156Pro TP53_g.13764_13787del commonName del24 TP53_g.13798G>T commonName G>T TP53_g.13798G>T protEffect p.Arg273Leu TP53_g.13377A>T commonName A>T TP53_g.13377A>T protEffect p.Asn247Ile TP53_g.12384G>T commonName G>T TP53_g.12384G>T protEffect p.Lys132Asn TP53_g.13828G>C commonName G>C TP53_g.13828G>C protEffect p.Arg283Pro TP53_g.13777G>T commonName G>T TP53_g.13777G>T protEffect p.Gly266Val TP53_g.13308A>T commonName A>T TP53_g.13798G>C commonName G>C TP53_g.13798G>C protEffect p.Arg273Pro TP53_g.12464C>T commonName C>T TP53_g.12464C>T protEffect p.Ala159Val TP53_g.12525T>G commonName T>G TP53_g.12525T>G protEffect p.His179Gln TP53_g.13375G>C commonName G>C TP53_g.13375G>C protEffect p.Met246Ile TP53_g.13362G>C commonName G>C TP53_g.13362G>C protEffect p.Cys242Ser TP53_g.13371G>T commonName G>T TP53_g.13371G>T protEffect p.Gly245Val TP53_g.13812C>T commonName C>T TP53_g.13812C>T protEffect p.Pro278Ser TP53_g.12643C>T commonName C>T TP53_g.12643C>T protEffect p.Gln192STOP TP53_g.13813C>T commonName C>T TP53_g.13813C>T protEffect p.Pro278Leu TP53_g.12514T>A commonName T>A TP53_g.12514T>A protEffect p.Cys176Ser TP53_g.12422T>A commonName T>A TP53_g.12422T>A protEffect p.Leu145Gln TP53_g.12499G>T commonName G>T TP53_g.12499G>T protEffect p.Glu171STOP TP53_g.12646C>T commonName C>T TP53_g.12646C>T protEffect p.His193Tyr TP53_g.13893A>T commonName A>T TP53_g.13893A>T protEffect p.Lys305STOP TP53_g.12524A>T commonName A>T TP53_g.12524A>T protEffect p.His179Leu TP53_g.12418C>T commonName C>T TP53_g.12418C>T protEffect p.Gln144STOP TP53_g.13789T>G commonName T>G TP53_g.13789T>G protEffect p.Phe270Cys TP53_g.13370G>A commonName G>A TP53_g.13370G>A protEffect p.Gly245Ser TP53_g.13380G>T commonName G>T TP53_g.13380G>T protEffect p.Arg248Leu TP53_g.12469G>A commonName G>A TP53_g.12469G>A protEffect p.Ala161Thr TP53_g.13863_13867del commonName del5 TP53_g.12397_12403del commonName del7 TP53_g.12507G>A commonName G>A TP53_g.12507G>A protEffect p.Val173Val TP53_g.13389T>G commonName T>G TP53_g.13389T>G protEffect p.Ile251Ser TP53_g.13390_13391ins4 commonName ins4 TP53_g.11409C>T commonName C>T TP53_g.11409C>T protEffect p.Pro60Ser TP53_g.11376G>C commonName G>C TP53_g.11376G>C protEffect p.Asp49His TP53_g.11390G>T commonName G>T TP53_g.11390G>T protEffect p.Trp53Cys TP53_g.12680A>G commonName A>G TP53_g.12680A>G protEffect p.Glu204Gly TP53_g.12674G>T commonName G>T TP53_g.12674G>T protEffect p.Arg202Leu TP53_g.13825G>C commonName G>C TP53_g.13825G>C protEffect p.Arg282Pro TP53_g.12487del commonName del1 TP53_g.12683A>T commonName A>T TP53_g.12683A>T protEffect p.Tyr205Phe TP53_g.12415del commonName del1 TP53_g.12715G>T commonName G>T TP53_g.12715G>T protEffect p.Val216Leu TP53_g.13773C>T commonName C>T TP53_g.13773C>T protEffect p.Leu265Leu TP53_g.13383G>T commonName G>T TP53_g.13383G>T protEffect p.Arg249Met TP53_g.12530G>A commonName G>A TP53_g.12530G>A protEffect p.Arg181His TP53_g.13795T>C commonName T>C TP53_g.13795T>C protEffect p.Val272Ala TP53_g.14066G>A commonName G>A TP53_g.13838A>G commonName A>G TP53_g.13838A>G protEffect p.Glu286Glu TP53_g.13349T>A commonName T>A TP53_g.13349T>A protEffect p.Cys238Ser TP53_g.12442_12454del commonName del13 TP53_g.12712A>G commonName A>G TP53_g.12712A>G protEffect p.Ser215Gly TP53_g.13398T>A commonName T>A TP53_g.13398T>A protEffect p.Ile254Asn TP53_g.12659T>G commonName T>G TP53_g.12659T>G protEffect p.Val197Gly TP53_g.13371G>A commonName G>A TP53_g.13371G>A protEffect p.Gly245Asp TP53_g.11606G>A commonName G>A TP53_g.11606G>A protEffect p.Thr125Thr TP53_g.12383A>G commonName A>G TP53_g.12383A>G protEffect p.Lys132Arg TP53_g.13333_13334ins4 commonName ins4 TP53_g.12534C>A commonName C>A TP53_g.12534C>A protEffect p.Cys182STOP TP53_g.12392G>C commonName G>C TP53_g.12392G>C protEffect p.Cys135Ser TP53_g.13801T>A commonName T>A TP53_g.13801T>A protEffect p.Val274Asp TP53_g.13350G>T commonName G>T TP53_g.13350G>T protEffect p.Cys238Phe TP53_g.12715_12716delinsTG commonName GT>TG TP53_g.12715_12716delinsTG protEffect p.Val216Trp TP53_g.12707G>C commonName G>C TP53_g.12707G>C protEffect p.Arg213Pro TP53_g.12724_12727del commonName del4 TP53_g.12538G>T commonName G>T TP53_g.12538G>T protEffect p.Asp184Tyr TP53_g.12364T>A commonName T>A TP53_g.12364T>A protEffect p.Tyr126Asn TP53_g.12529C>T commonName C>T TP53_g.12529C>T protEffect p.Arg181Cys TP53_g.13819G>C commonName G>C TP53_g.13819G>C protEffect p.Arg280Thr TP53_g.13804G>T commonName G>T TP53_g.13804G>T protEffect p.Cys275Phe TP53_g.11560G>T commonName G>T TP53_g.11560G>T protEffect p.Arg110Leu TP53_g.12461G>T commonName G>T TP53_g.12461G>T protEffect p.Arg158Leu TP53_g.12512G>T commonName G>T TP53_g.12512G>T protEffect p.Arg175Leu TP53_g.13319_13340del commonName del22 TP53_g.13385C>T commonName C>T TP53_g.13385C>T protEffect p.Pro250Ser TP53_g.13853_13854ins1 commonName ins1 TP53_g.12438_12439ins4 commonName ins4 TP53_g.17968_17986del commonName del19 TP53_g.12451_12459del commonName del9 TP53_g.13375G>A commonName G>A TP53_g.13375G>A protEffect p.Met246Ile TP53_g.11578C>G commonName C>G TP53_g.11578C>G protEffect p.Ser116Cys TP53_g.13332T>A commonName T>A TP53_g.13332T>A protEffect p.Ile232Asn TP53_g.12380A>T commonName A>T TP53_g.12380A>T protEffect p.Asn131Ile TP53_g.12710A>G commonName A>G TP53_g.12710A>G protEffect p.His214Arg TP53_g.12476A>G commonName A>G TP53_g.12476A>G protEffect p.Tyr163Cys TP53_g.12482A>G commonName A>G TP53_g.12482A>G protEffect p.Gln165Arg TP53_g.16887del commonName del1 TP53_g.11493del commonName del1 TP53_g.12392del commonName del1 TP53_g.12653T>C commonName T>C TP53_g.12653T>C protEffect p.Ile195Thr TP53_g.13815del commonName del1 TP53_g.12514T>C commonName T>C TP53_g.12514T>C protEffect p.Cys176Arg TP53_g.13764G>A commonName G>A TP53_g.13764G>A protEffect p.Gly262Ser TP53_g.16915C>T commonName C>T TP53_g.16915C>T protEffect p.Arg342STOP TP53_g.13308A>C commonName A>C TP53_g.16892G>T commonName G>T TP53_g.16892G>T protEffect p.Gly334Val TP53_g.14066G>T commonName G>T TP53_g.11433G>T commonName G>T TP53_g.11433G>T protEffect p.Glu68STOP TP53_g.12440C>A commonName C>A TP53_g.12440C>A protEffect p.Pro151His TP53_g.12428T>A commonName T>A TP53_g.12428T>A protEffect p.Val147Asp TP53_g.12694A>T commonName A>T TP53_g.12694A>T protEffect p.Arg209STOP TP53_g.13761A>C commonName A>C TP53_g.13824C>G commonName C>G TP53_g.13824C>G protEffect p.Arg282Gly TP53_g.12350_12377del commonName del28 TP53_g.11606G>T commonName G>T TP53_g.11606G>T protEffect p.Thr125Thr TP53_g.13363_13364ins7 commonName ins7 TP53_g.13863_13864del commonName del2 TP53_g.12442_12443del commonName del2 TP53_g.12712A>C commonName A>C TP53_g.12712A>C protEffect p.Ser215Arg TP53_g.12404A>C commonName A>C TP53_g.12404A>C protEffect p.Lys139Thr TP53_g.12505G>A commonName G>A TP53_g.12505G>A protEffect p.Val173Met TP53_g.12647A>C commonName A>C TP53_g.12647A>C protEffect p.His193Pro TP53_g.12706del commonName del1 TP53_g.12376C>G commonName C>G TP53_g.12376C>G protEffect p.Leu130Val TP53_g.14021C>T commonName C>T TP53_g.14021C>T protEffect p.Gln317STOP TP53_g.13370G>T commonName G>T TP53_g.13370G>T protEffect p.Gly245Cys TP53_g.11024G>C commonName G>C TP53_g.11024G>C protEffect p.Asp7His TP53_g.11397G>T commonName G>T TP53_g.11397G>T protEffect p.Glu56STOP TP53_g.13370_13371delinsAA commonName GG>AA TP53_g.13370_13371delinsAA protEffect p.Gly245Asn TP53_g.13835_13836delinsAA commonName GG>AA TP53_g.13835_13836delinsAA protEffect E286K TP53_g.13378_13379delinsTT commonName CC>TT TP53_g.13378_13379delinsTT protEffect R248W TP53_g.12442C>T commonName C>T TP53_g.12442C>T protEffect p.Pro152Ser TP53_g.11543del commonName del1 TP53_g.12665G>T commonName G>T TP53_g.12665G>T protEffect p.Gly199Val TP53_g.13362G>T commonName G>T TP53_g.13362G>T protEffect p.Cys242Phe TP53_g.13332T>C commonName T>C TP53_g.13332T>C protEffect p.Ile232Thr TP53_g.13351_13352ins1 commonName ins1 TP53_g.12741G>C commonName G>C TP53_g.12741G>C protEffect p.Glu224Asp TP53_g.11371C>T commonName C>T TP53_g.11371C>T protEffect p.Pro47Leu TP53_g.12411C>G commonName C>G TP53_g.12411C>G protEffect p.Cys141Trp TP53_g.13780G>C commonName G>C TP53_g.13780G>C protEffect p.Arg267Pro TP53_g.11496del commonName del1 TP53_g.11333_11334ins1 commonName ins1 TP53_g.13900G>T commonName G>T TP53_g.12742G>A commonName G>A TP53_g.13851A>T commonName A>T TP53_g.13851A>T protEffect p.Lys291STOP TP53_g.13363C>G commonName C>G TP53_g.13363C>G protEffect p.Cys242Trp TP53_g.13413A>T commonName A>T TP53_g.13413A>T protEffect p.Asp259Val TP53_g.12426G>A commonName G>A TP53_g.12426G>A protEffect p.Trp146STOP TP53_g.12640del commonName del1 TP53_g.12480G>T commonName G>T TP53_g.12480G>T protEffect p.Lys164Asn TP53_g.12713G>T commonName G>T TP53_g.12713G>T protEffect p.Ser215Ile TP53_g.12718G>T commonName G>T TP53_g.12718G>T protEffect p.Val217Leu TP53_g.11535del commonName del1 TP53_g.12516C>G commonName C>G TP53_g.12516C>G protEffect p.Cys176Trp TP53_g.12480_12481ins9 commonName ins9 TP53_g.13830A>C commonName A>C TP53_g.13830A>C protEffect p.Thr284Pro TP53_g.12628G>T commonName G>T TP53_g.12478del commonName del1 TP53_g.12658G>C commonName G>C TP53_g.12658G>C protEffect p.Val197Leu TP53_g.12470C>A commonName C>A TP53_g.12470C>A protEffect p.Ala161Asp TP53_g.12452C>A commonName C>A TP53_g.12452C>A protEffect p.Thr155Asn TP53_g.12457_12468del commonName del12 TP53_g.12691_12694del commonName del4 TP53_g.12652A>T commonName A>T TP53_g.12652A>T protEffect p.Ile195Phe TP53_g.13821G>C commonName G>C TP53_g.13821G>C protEffect p.Asp281His TP53_g.12667del commonName del1 TP53_g.13381_13382ins1 commonName ins1 TP53_g.12494T>C commonName T>C TP53_g.12494T>C protEffect p.Met169Thr TP53_g.13812C>A commonName C>A TP53_g.13812C>A protEffect p.Pro278Thr TP53_g.12460C>T commonName C>T TP53_g.12460C>T protEffect p.Arg158Cys TP53_g.13804G>A commonName G>A TP53_g.13804G>A protEffect p.Cys275Tyr TP53_g.12728A>C commonName A>C TP53_g.12728A>C protEffect p.Tyr220Ser TP53_g.12661G>A commonName G>A TP53_g.12661G>A protEffect p.Glu198Lys TP53_g.12682T>G commonName T>G TP53_g.12682T>G protEffect p.Tyr205Asp TP53_g.13371_13372delinsTT commonName GC>TT TP53_g.13371_13372delinsTT protEffect p.Gly245Val TP53_g.13407T>C commonName T>C TP53_g.13407T>C protEffect p.Leu257Pro TP53_g.13409_13417del commonName del9 TP53_g.13867A>C commonName A>C TP53_g.13867A>C protEffect p.His296Pro TP53_g.13814_13815ins1 commonName ins1 TP53_g.13389T>A commonName T>A TP53_g.13389T>A protEffect p.Ile251Asn TP53_g.13345C>A commonName C>A TP53_g.13345C>A protEffect p.Tyr236STOP TP53_g.13797C>G commonName C>G TP53_g.13797C>G protEffect p.Arg273Gly TP53_g.13860G>T commonName G>T TP53_g.13860G>T protEffect p.Glu294STOP TP53_g.13811_13812ins1 commonName ins1 TP53_g.13321C>G commonName C>G TP53_g.13321C>G protEffect p.Asp228Glu TP53_g.13340_13353del commonName del14 TP53_g.14057del commonName del1 TP53_g.12508_12525del commonName del18 TP53_g.13803T>C commonName T>C TP53_g.13803T>C protEffect p.Cys275Arg TP53_g.13349T>C commonName T>C TP53_g.13349T>C protEffect p.Cys238Arg TP53_g.13812C>G commonName C>G TP53_g.13812C>G protEffect p.Pro278Ala TP53_g.13825G>T commonName G>T TP53_g.13825G>T protEffect p.Arg282Leu TP53_g.12370C>T commonName C>T TP53_g.12370C>T protEffect p.Pro128Ser TP53_g.12502del commonName del1 TP53_g.12372T>G commonName T>G TP53_g.12372T>G protEffect p.Pro128Pro TP53_g.13347T>A commonName T>A TP53_g.13347T>A protEffect p.Met237Lys TP53_g.12388T>C commonName T>C TP53_g.12388T>C protEffect p.Phe134Leu TP53_g.13788T>A commonName T>A TP53_g.13788T>A protEffect p.Phe270Ile TP53_g.12694_12695del commonName del2 TP53_g.12402C>T commonName C>T TP53_g.12402C>T protEffect p.Ala138Ala TP53_g.13757_13761del commonName del5 TP53_g.12715_12717del commonName del3 TP53_g.12524A>G commonName A>G TP53_g.12524A>G protEffect p.His179Arg TP53_g.11326A>T commonName A>T TP53_g.13385_13386delinsTT commonName CC>TT TP53_g.13385_13386delinsTT protEffect p.Pro250Phe TP53_g.13396_13397ins1 commonName ins1 TP53_g.12548G>A commonName G>A TP53_g.12365A>G commonName A>G TP53_g.12365A>G protEffect p.Tyr126Cys TP53_g.13308A>G commonName A>G TP53_g.13821G>T commonName G>T TP53_g.13821G>T protEffect p.Asp281Tyr TP53_g.12460C>G commonName C>G TP53_g.12460C>G protEffect p.Arg158Gly TP53_g.12491A>G commonName A>G TP53_g.12491A>G protEffect p.His168Arg TP53_g.12469G>T commonName G>T TP53_g.12469G>T protEffect p.Ala161Ser TP53_g.12455G>T commonName G>T TP53_g.12455G>T protEffect p.Arg156Leu TP53_g.11491C>A commonName C>A TP53_g.11491C>A protEffect p.Pro87Gln TP53_g.12504_12505ins1 commonName ins1 TP53_g.12408_12409ins14 commonName ins14 TP53_g.12379_12381del commonName del3 TP53_g.13339C>A commonName C>A TP53_g.13339C>A protEffect p.Tyr234STOP TP53_g.13334_13341del commonName del8 TP53_g.13391_13399del commonName del9 TP53_g.13805T>G commonName T>G TP53_g.13805T>G protEffect p.Cys275Trp TP53_g.12418_12420del commonName del3 TP53_g.12475T>A commonName T>A TP53_g.12475T>A protEffect p.Tyr163Asn TP53_g.12382A>G commonName A>G TP53_g.12382A>G protEffect p.Lys132Glu TP53_g.13385_13392del commonName del8 TP53_g.13372C>T commonName C>T TP53_g.13372C>T protEffect p.Gly245Gly TP53_g.11328_11605del commonName del278 TP53_g.12637del commonName del1 TP53_g.13374T>C commonName T>C TP53_g.13374T>C protEffect p.Met246Thr TP53_g.11582_11583ins2 commonName ins2 TP53_g.12430G>A commonName G>A TP53_g.12430G>A protEffect p.Asp148Asn TP53_g.12459_12460delinsTT commonName CC>TT TP53_g.12459_12460delinsTT protEffect R158C TP53_g.12465C>T commonName C>T TP53_g.12465C>T protEffect p.Ala159Ala TP53_g.11382G>T commonName G>T TP53_g.11382G>T protEffect p.Glu51STOP TP53_g.12654_12655delinsTT commonName CC>TT TP53_g.12654_12655delinsTT protEffect R196X TP53_g.13383del commonName del1 TP53_g.14018del commonName del1 TP53_g.12739G>T commonName G>T TP53_g.12739G>T protEffect p.Glu224STOP TP53_g.12684T>G commonName T>G TP53_g.12684T>G protEffect p.Tyr205STOP TP53_g.12634G>C commonName G>C TP53_g.12634G>C protEffect p.Ala189Pro TP53_g.12703del commonName del1 TP53_g.12504T>C commonName T>C TP53_g.12504T>C protEffect p.Val172Val TP53_g.12511C>T commonName C>T TP53_g.12511C>T protEffect p.Arg175Cys TP53_g.12506T>A commonName T>A TP53_g.12506T>A protEffect p.Val173Glu TP53_g.13800G>T commonName G>T TP53_g.13800G>T protEffect p.Val274Phe TP53_g.13830A>G commonName A>G TP53_g.13830A>G protEffect p.Thr284Ala TP53_g.12552G>C commonName G>C TP53_g.12440C>G commonName C>G TP53_g.12440C>G protEffect p.Pro151Arg TP53_g.12445C>A commonName C>A TP53_g.12445C>A protEffect p.Pro153Thr TP53_g.11511T>A commonName T>A TP53_g.11511T>A protEffect p.Ser94Thr TP53_g.13822A>T commonName A>T TP53_g.13822A>T protEffect p.Asp281Val TP53_g.12737C>T commonName C>T TP53_g.12737C>T protEffect p.Pro223Leu TP53_g.12401del commonName del1 TP53_g.12366C>G commonName C>G TP53_g.12366C>G protEffect p.Tyr126STOP BGMUT_10 alias A201 intronic BGMUT_10 commonName A201 BGMUT_10 phenoCommon A2 BGMUT_100 commonName Aw07 BGMUT_100 phenoCommon Aw BGMUT_100 protEffect P156L; R198W; 354fs + 21aa BGMUT_101 commonName Aw08 BGMUT_101 phenoCommon Aw BGMUT_101 protEffect P74S; T163M; R176G; G268R BGMUT_103 commonName Ael01 BGMUT_103 phenoCommon Ael BGMUT_103 protEffect 269fs BGMUT_104 commonName Ael02 BGMUT_104 phenoCommon Ael BGMUT_104 protEffect P156L; F216I BGMUT_105 alias Aelvar BGMUT_105 commonName Ael03 BGMUT_105 phenoCommon Ael BGMUT_105 protEffect 269fs BGMUT_106 commonName Ael04 BGMUT_106 phenoCommon Ael BGMUT_106 protEffect no full transcript; alternatively spliced fragments BGMUT_107 commonName Ael05 BGMUT_107 phenoCommon Ael BGMUT_107 protEffect P156L; I256T BGMUT_108 alias A112 BGMUT_108 commonName Am01 BGMUT_108 phenoCommon Am BGMUT_108 protEffect P156L A254V BGMUT_109 commonName Am02 BGMUT_109 phenoCommon Am BGMUT_109 protEffect V222M BGMUT_11 commonName A202 BGMUT_11 phenoCommon A2 BGMUT_11 protEffect R352W BGMUT_110 commonName cis-AB01 BGMUT_110 phenoCommon cisAB BGMUT_110 protEffect P156L; G268A BGMUT_111 commonName cis-AB02 BGMUT_111 phenoCommon cisAB BGMUT_111 protEffect R176G; G235S; G268A BGMUT_112 commonName cis-AB03 BGMUT_112 phenoCommon cisAB BGMUT_112 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_113 commonName cis-AB04 BGMUT_113 phenoCommon cisAB BGMUT_113 protEffect P156L; L266M BGMUT_114 commonName B301 BGMUT_114 phenoCommon B3 BGMUT_114 protEffect R176G; G235S; L266M; G268A; R352W BGMUT_115 commonName B302 BGMUT_115 phenoCommon B3 BGMUT_115 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_117 commonName B304 BGMUT_117 phenoCommon B3 BGMUT_117 protEffect D83Y; R176G; G235S; L266M; G268A BGMUT_118 commonName B(A)01 BGMUT_118 phenoCommon B(A) BGMUT_118 protEffect R176G; L266M; G268A BGMUT_119 commonName B(A)02 BGMUT_119 phenoCommon B(A) BGMUT_119 protEffect R176G; P234A; G235S; L266M; G268A; BGMUT_12 commonName A203 BGMUT_12 phenoCommon A2 BGMUT_12 protEffect R352G BGMUT_120 alias B(A)var BGMUT_120 commonName B(A)03 BGMUT_120 phenoCommon B(A) BGMUT_120 protEffect R176G; L266M; G268A BGMUT_121 alias B104 BGMUT_121 commonName Bx01 BGMUT_121 phenoCommon Bx BGMUT_121 protEffect R176G; G235S; L266M; G268A; D291N BGMUT_122 alias B105 BGMUT_122 commonName Bel01 BGMUT_122 phenoCommon Bel. very low B antigen expression BGMUT_122 protEffect R176G; M214R; G235S; L266M; G268A BGMUT_123 alias B106 BGMUT_123 commonName Bel02 BGMUT_123 phenoCommon Bel BGMUT_123 protEffect R176; E223D; G235S; L266M; G268A BGMUT_124 commonName Bel03 BGMUT_124 phenoCommon Bel BGMUT_124 protEffect R168W; R176G; G235S; L266M; G268A BGMUT_125 commonName Bel04 TP53_g.11445_11454del commonName del10 TP53_g.11564del commonName del1 BGMUT_125 phenoCommon Bel BGMUT_125 protEffect P156L; F216I; L266M; G268A; V277M BGMUT_126 commonName Bw02 BGMUT_126 phenoCommon Bw BGMUT_126 protEffect R176G; G235S; L266M; G268A; D291E BGMUT_127 commonName Bw03 BGMUT_127 phenoCommon Bw BGMUT_127 protEffect R176G; G235S; R241W; L266M; G268A BGMUT_128 commonName Bw04 BGMUT_128 phenoCommon Bw BGMUT_128 protEffect R176G; D183G; G235S; R241W; L266M; G268A BGMUT_129 commonName Bw05 BGMUT_129 phenoCommon Bw BGMUT_129 protEffect R176GR180H; G235S; L266M; G268A BGMUT_13 commonName A204 BGMUT_13 phenoCommon A2 BGMUT_13 protEffect R176G; G235S; V277M BGMUT_130 commonName Bw06 BGMUT_130 phenoCommon Bw BGMUT_130 protEffect R176G; G235S; L266M; G268A; K346E BGMUT_131 commonName Bw07 BGMUT_131 phenoCommon Bw BGMUT_131 protEffect R176G; G235S; L266M; G268A; R352Q BGMUT_132 commonName Bw08 BGMUT_132 phenoCommon Bw BGMUT_132 protEffect R176G; G235S; L266M; G268A; M288R BGMUT_133 commonName Bw09 BGMUT_133 phenoCommon Bw BGMUT_133 protEffect R176G; G235S; L266M; K346M BGMUT_134 commonName Bw10 BGMUT_134 protEffect R176G; M186V; G235S; L266M; G268A BGMUT_136 commonName C4A*1 BGMUT_136 phenoCommon Chi 3, 4, 5, 6; Rg - BGMUT_136 protEffect D1054G; N1157S; V1188A; L1191R; BGMUT_137 commonName C4A*3(WH) BGMUT_137 phenoCommon Ch6; Rg1 BGMUT_137 protEffect N1157S BGMUT_139 commonName C4B*1 BGMUT_139 phenoCommon Ch1, 2, 4, 5; Rg1 BGMUT_139 protEffect S1157N BGMUT_14 commonName A205 BGMUT_14 phenoCommon A2 BGMUT_14 protEffect P156L; R337G BGMUT_140 commonName C4B*2 BGMUT_140 phenoCommon Ch1, 3, 5, 6; Rg- BGMUT_140 protEffect G1054D BGMUT_141 commonName C4B*5 BGMUT_141 phenoCommon Ch4, 6; Rg1 BGMUT_141 protEffect G1054D; A1188V; R1191V; BGMUT_143 commonName AQP1-2 BGMUT_143 phenoCommon CO2; CO3; Co(a-,b+) BGMUT_143 protEffect A45V BGMUT_144 commonName AQP1-n1 BGMUT_144 phenoCommon Co(a-,b-) BGMUT_144 protEffect deletion of exon 1 encoded aa BGMUT_145 commonName AQP1-n2 BGMUT_145 phenoCommon Co(a-,b-) BGMUT_145 protEffect G107fs BGMUT_146 commonName AQP1-n3 BGMUT_146 phenoCommon Co(a-,b-) BGMUT_146 protEffect P38L BGMUT_147 commonName AQP1-n4 BGMUT_147 phenoCommon Co(a-,b-) BGMUT_147 protEffect N192K BGMUT_148 commonName AQP1-n5 BGMUT_148 phenoCommon Co(a-,b-) BGMUT_148 protEffect 78fs BGMUT_149 commonName AQP1-n6 BGMUT_149 protEffect Q47R BGMUT_15 commonName A206 BGMUT_15 phenoCommon A2 BGMUT_15 protEffect 354fs + 21aa BGMUT_151 alias DAF 679C BGMUT_151 commonName DAF Cr(a-) BGMUT_151 phenoCommon Cr(a-) BGMUT_151 protEffect A227P BGMUT_152 alias DAF 155T BGMUT_152 commonName DAF Tc-b BGMUT_152 phenoCommon Tc-b BGMUT_152 protEffect R52L BGMUT_153 alias DAF 155C BGMUT_153 commonName DAF Tc-c BGMUT_153 phenoCommon Tc-c BGMUT_153 protEffect R52P BGMUT_155 alias DAF 239A BGMUT_155 commonName DAF Es(a-) BGMUT_155 phenoCommon Es(a-) BGMUT_155 protEffect I80N BGMUT_156 alias DAF 261A BGMUT_156 commonName DAF IFC- BGMUT_156 phenoCommon null; Inab- BGMUT_156 protEffect W87X BGMUT_157 alias DAF 263A BGMUT_157 commonName DAF IFC- BGMUT_157 phenoCommon null; Inab- BGMUT_157 protEffect S88X BGMUT_158 alias DAF 245T BGMUT_158 commonName DAF WES-a BGMUT_158 phenoCommon WES-a BGMUT_158 protEffect L82R BGMUT_159 alias DAF 749T BGMUT_159 commonName DAF UMC- BGMUT_159 phenoCommon UMC- BGMUT_159 protEffect T250M BGMUT_16 commonName A207 BGMUT_16 phenoCommon A2 BGMUT_16 protEffect R180P BGMUT_160 alias DAF 719A BGMUT_160 commonName DAF GUTI- BGMUT_160 phenoCommon GUT1- BGMUT_160 protEffect R240H BGMUT_161 alias DAF 647T BGMUT_161 commonName DAF SERF- BGMUT_161 phenoCommon SERF- BGMUT_161 protEffect P216L BGMUT_162 alias DAF 726G BGMUT_162 commonName DAF Zena (CROM13) BGMUT_162 phenoCommon Zena- BGMUT_162 protEffect H242Q BGMUT_164 alias DO 378T; 624C; 793G BGMUT_164 commonName DOB BGMUT_164 phenoCommon DOb BGMUT_164 protEffect Y126Y; L208L; N265D BGMUT_165 alias DO 323T, 378T BGMUT_165 commonName DO HY BGMUT_165 phenoCommon Hy + BGMUT_165 protEffect G108V BGMUT_166 alias DO 350T, 378T BGMUT_166 commonName DO JO BGMUT_166 phenoCommon Jo(a -) BGMUT_166 protEffect T117I BGMUT_167 alias DO intron 1 3'G BGMUT_167 commonName DO GY1 BGMUT_167 phenoCommon Donull; Gy(a-) BGMUT_167 protEffect DOB exon 2 del BGMUT_168 alias DO intron 1 5'C BGMUT_168 commonName DO GY4 BGMUT_168 phenoCommon Donull; Gy(a-) BGMUT_168 protEffect DOB exon 2 del BGMUT_169 alias DO 442T BGMUT_169 commonName DO GY5 BGMUT_169 phenoCommon Donull; Gy(a-) BGMUT_169 protEffect Q148X BGMUT_17 alias B101 exonic BGMUT_17 commonName B101 BGMUT_17 phenoCommon B BGMUT_17 protEffect R176G; G235S; L266M; G268A BGMUT_170 commonName DO 343-350del BGMUT_170 phenoCommon Donull; Gy(a-) BGMUT_170 protEffect 114 fs + X BGMUT_171 alias DO 323T, 898G BGMUT_171 commonName DO HY1 BGMUT_171 phenoCommon Hy- BGMUT_171 protEffect G108V; N265D; L300V BGMUT_172 alias DO 323T BGMUT_172 commonName DO HY2 BGMUT_172 phenoCommon Hy- BGMUT_172 protEffect G108V; N265D; BGMUT_174 commonName SLC4A1 - DIa BGMUT_174 phenoCommon DIa (Memphis neg) BGMUT_174 protEffect P854L BGMUT_175 commonName SLC4A1 - Memphis-DIb BGMUT_175 phenoCommon DIb BGMUT_175 protEffect K56E BGMUT_176 commonName SLC4A1 - Memphis-DIa BGMUT_176 phenoCommon DIa BGMUT_176 protEffect K56E; P854L BGMUT_177 commonName SLC4A1 - Tuscaloosa BGMUT_177 protEffect K56E; P327R BGMUT_178 commonName SLC4A1 - Montefiore BGMUT_178 protEffect E40K BGMUT_179 commonName SLC4A1 - Foggia BGMUT_179 protEffect 54-55fs BGMUT_18 alias B101 intronic BGMUT_18 commonName B101 BGMUT_18 phenoCommon B BGMUT_18 protEffect none BGMUT_180 commonName SLC4A1 - Kagoshima BGMUT_180 protEffect 56fs BGMUT_181 commonName SLC4A1 - Hodonin BGMUT_181 protEffect W81X BGMUT_182 commonName SLC4A1 - Cape Town BGMUT_182 protEffect E90K BGMUT_183 commonName SLC4A1 - Napoli I BGMUT_183 protEffect 99-100fs BGMUT_184 commonName SLC4A1 - Fukayama I BGMUT_184 protEffect 112-113fs BGMUT_185 commonName SLC4A1 - Nachod BGMUT_185 protEffect 117-121del GTVLL BGMUT_186 commonName SLC4A1 - Fukoka BGMUT_186 protEffect G130R BGMUT_187 commonName SLC4A1 - Osnabruck I BGMUT_187 protEffect R150X BGMUT_188 commonName SLC4A1 - Worcester BGMUT_188 protEffect 172-173fs BGMUT_189 commonName SLC4A1 - Fukayama II BGMUT_189 protEffect 183fs BGMUT_19 commonName B101 var1 BGMUT_19 phenoCommon B BGMUT_19 protEffect R176G; G235S; L266M; G268A BGMUT_190 commonName SLC4A1 - Campinas BGMUT_190 protEffect 203fs BGMUT_191 commonName SLC4A1 - Bohain BGMUT_191 protEffect 241fs BGMUT_192 commonName SLC4A1 - Princeton BGMUT_192 protEffect 273-275fs BGMUT_193 commonName SLC4A1 - Boston BGMUT_193 protEffect A285D BGMUT_194 commonName SLC4A1 - Noirterre BGMUT_194 protEffect Q330X BGMUT_195 commonName SLC4A1 - Bruggen BGMUT_195 protEffect 419fs BGMUT_196 commonName SLC4A1 - Benesov BGMUT_196 protEffect G455E BGMUT_197 commonName SLC4A1 - Bicetre II BGMUT_197 protEffect 456fs BGMUT_198 commonName SLC4A1 - Pribram BGMUT_198 protEffect 477fs BGMUT_199 commonName SLC4A1 - Coimbra BGMUT_199 protEffect V488M BGMUT_20 commonName B102 BGMUT_20 phenoCommon B BGMUT_20 protEffect R176G; G235S L266M; G268A BGMUT_200 commonName SLC4A1 - Bicetre I BGMUT_200 protEffect R490C BGMUT_201 commonName SLC4A1 - Evry BGMUT_201 protEffect 492fs BGMUT_202 commonName SLC4A1 - Milano BGMUT_202 protEffect 498ins, 23 residues BGMUT_203 commonName SLC4A1 - Dresden BGMUT_203 protEffect R518C BGMUT_204 commonName SLC4A1 - Smichov BGMUT_204 protEffect 616fs BGMUT_205 commonName SLC4A1 - Trutnov BGMUT_205 protEffect Y628X BGMUT_206 commonName SLC4A1 - Hobart BGMUT_206 protEffect 646-647fs BGMUT_207 commonName SLC4A1 - Osnabruck II BGMUT_207 protEffect 663-664fs BGMUT_208 commonName SLC4A1 - Most BGMUT_208 protEffect P707L BGMUT_209 commonName SLC4A1 - Okinawa BGMUT_209 protEffect G714R BGMUT_21 commonName B103 BGMUT_21 phenoCommon B BGMUT_21 protEffect R176G; G235S L266M; G268A BGMUT_210 commonName SLC4A1 - Prague II BGMUT_210 protEffect R760Q BGMUT_211 alias SCLCA1 2278T BGMUT_211 commonName SLC4A1 - Hradec Kralove BGMUT_211 protEffect R760W BGMUT_212 commonName SLC4A1 - Chur BGMUT_212 protEffect G771D BGMUT_213 commonName SLC4A1 - Napoli II BGMUT_213 protEffect I783N BGMUT_214 commonName SLC4A1 - Jablonec BGMUT_214 protEffect R808C BGMUT_215 commonName SLC4A1 - Nara BGMUT_215 protEffect R808H BGMUT_216 commonName SLC4A1 - Prague I BGMUT_216 protEffect 822fs BGMUT_217 commonName SLC4A1 - Birmingham BGMUT_217 protEffect H834P BGMUT_218 commonName SLC4A1 - Philadelphia BGMUT_218 protEffect T837M BGMUT_219 commonName SLC4A1 - Tokyo BGMUT_219 protEffect T837A BGMUT_22 commonName B107 BGMUT_22 phenoCommon B BGMUT_22 protEffect R176G G235S L266M G268A BGMUT_220 commonName SLC4A1 - HT BGMUT_220 protEffect P868L BGMUT_221 commonName SLC4A1 - Prague III BGMUT_221 protEffect R870W BGMUT_222 commonName SLC4A1 - Vesuvio BGMUT_222 protEffect 984fs BGMUT_223 commonName SLC4A1 - SAO BGMUT_223 protEffect K56E; del400-408 BGMUT_224 commonName SLC4A1 - dRTA1 BGMUT_224 protEffect R589H BGMUT_225 commonName SLC4A1 - dRTA2(1765T) BGMUT_225 protEffect R589C BGMUT_226 commonName SLC4A1 - dRTA2(1765A) BGMUT_226 protEffect R589S BGMUT_227 commonName SLC4A1 - dRTA2(2703del) BGMUT_227 protEffect del901-911 BGMUT_228 commonName SLC4A1 - dRTA3 BGMUT_228 protEffect S613F BGMUT_229 commonName SLC4A1 - dRTA4 BGMUT_229 protEffect M31T; K56E; G701D BGMUT_23 alias O01 exonic BGMUT_23 commonName O01 BGMUT_23 phenoCommon O BGMUT_23 protEffect 88fs + truncation BGMUT_230 commonName SLC4A1 - dRTA5 BGMUT_230 protEffect A858D BGMUT_231 commonName SLC4A1 - dRTA6 BGMUT_231 protEffect 850delV BGMUT_232 commonName SLC4A1 - dRTA6 BGMUT_232 protEffect G701D BGMUT_233 commonName SLC4A1 - Wra BGMUT_233 phenoCommon Wra BGMUT_233 protEffect E658K BGMUT_234 commonName SLC4A1 - Wda BGMUT_234 phenoCommon Wda BGMUT_234 protEffect V557M BGMUT_235 commonName SLC4A1 - Rba BGMUT_235 phenoCommon Rba BGMUT_235 protEffect P548L BGMUT_236 commonName SLC4A1 - WARR BGMUT_236 protEffect T552I BGMUT_237 commonName SLC4A1 - ELO BGMUT_237 phenoCommon ELO BGMUT_237 protEffect R432W BGMUT_238 commonName SLC4A1 - Wu BGMUT_238 phenoCommon Wu BGMUT_238 protEffect G565A BGMUT_239 commonName SLC4A1 - Bpa BGMUT_239 phenoCommon Bpa BGMUT_239 protEffect N569K BGMUT_24 alias O01 intronic BGMUT_24 commonName O01 BGMUT_24 phenoCommon O BGMUT_240 commonName SLC4A1 - Moa BGMUT_240 phenoCommon Moa BGMUT_240 protEffect R656H BGMUT_241 commonName SLC4A1 - Hga BGMUT_241 phenoCommon Hga BGMUT_241 protEffect R656C BGMUT_242 commonName SLC4A1 - Vga BGMUT_242 protEffect Y555H BGMUT_243 commonName SLC4A1 - Swa1 BGMUT_243 phenoCommon Swa BGMUT_243 protEffect R646Q BGMUT_244 commonName SLC4A1 - Swa2 BGMUT_244 phenoCommon Swa BGMUT_244 protEffect R646W BGMUT_245 commonName SLC4A1 - BOW BGMUT_245 phenoCommon BOW BGMUT_245 protEffect P561S BGMUT_246 commonName SLC4A1 - NFLD BGMUT_246 phenoCommon NFLD BGMUT_246 protEffect E429D; P561A BGMUT_247 commonName SLC4A1 - Jna BGMUT_247 phenoCommon Jna BGMUT_247 protEffect P566S BGMUT_248 commonName SLC4A1 - KREP BGMUT_248 phenoCommon KREP BGMUT_248 protEffect P566A BGMUT_249 commonName SLC4A1 - Tra BGMUT_249 phenoCommon Tra BGMUT_249 protEffect K551N BGMUT_25 commonName O011 BGMUT_25 phenoCommon O BGMUT_250 commonName SLC4A1 - Fra BGMUT_250 phenoCommon Fra BGMUT_250 protEffect E480K BGMUT_251 alias FYA 125G BGMUT_251 commonName FYA BGMUT_251 phenoCommon FY(a+b-) BGMUT_251 protEffect D42G BGMUT_253 alias FYB -33C BGMUT_253 commonName FYB ES BGMUT_253 phenoCommon FY(a-b-) BGMUT_253 protEffect protein is not expressed in erythroid cells. BGMUT_254 alias FYB 298A BGMUT_254 commonName FYB 1 BGMUT_254 phenoCommon FY(a-b+) BGMUT_254 protEffect A100T BGMUT_255 alias FYB 265T, 298A BGMUT_255 commonName FYB 2; FYBWK BGMUT_255 phenoCommon FY(a-b+wk) BGMUT_255 protEffect R89C; A100T BGMUT_256 alias FYB 145T, 298A BGMUT_256 commonName FYB 3 BGMUT_256 phenoCommon FY(a-b+wk) BGMUT_256 protEffect A49S; R89C; A100T BGMUT_257 alias FYA 281-295del BGMUT_257 commonName FYAO (AZ) BGMUT_257 phenoCommon FY(a-b-) BGMUT_257 protEffect putative truncated protein of 118 residues BGMUT_258 alias FYA 293A BGMUT_258 commonName FYAO (Ye) BGMUT_258 phenoCommon FY(a-b-) BGMUT_258 protEffect W98X BGMUT_259 alias FYA 413A BGMUT_259 commonName FYAO(NE) BGMUT_259 phenoCommon FY(a-b-) BGMUT_259 protEffect W138X BGMUT_26 alias O02 exonic BGMUT_26 commonName O02 BGMUT_26 phenoCommon O BGMUT_26 protEffect V36F; R63H; P74S; 88fs + truncation BGMUT_260 alias FYB 413A BGMUT_260 commonName FYBO (patient 2) BGMUT_260 phenoCommon FY(a-b-) BGMUT_260 protEffect W138X BGMUT_261 alias FYA 414A BGMUT_261 commonName FYAO (patient 3) BGMUT_261 phenoCommon FY(a-b-) BGMUT_261 protEffect W138X BGMUT_263 commonName GYPC -2 BGMUT_263 phenoCommon Ge:-2,3,4 (Yus type) BGMUT_263 protEffect altered GPC BGMUT_264 commonName GYPC -2-3+4 BGMUT_264 phenoCommon Ge:-2,-2,4 (Gerbich type) BGMUT_264 protEffect altered GPC BGMUT_266 alias GYPC -2-3-4 BGMUT_266 commonName LN BGMUT_266 phenoCommon Ge:-2,-3,-4; (Leach LN type) BGMUT_266 protEffect W44L 45fs; 55X BGMUT_267 alias Webb; GYPC-5 BGMUT_267 commonName Wb BGMUT_267 phenoCommon Wb (Webb) BGMUT_267 protEffect N8S BGMUT_269 alias GYPC-7; GYPC 67T BGMUT_269 commonName Ana BGMUT_269 phenoCommon Ana BGMUT_269 protEffect A2S in GPD BGMUT_27 alias O02 intronic BGMUT_27 commonName O02 BGMUT_27 phenoCommon O BGMUT_27 protEffect none BGMUT_270 alias GYPC-8; GYPC 40T BGMUT_270 commonName Dha BGMUT_270 phenoCommon Dha (Duch) BGMUT_270 protEffect L14F BGMUT_272 commonName AQP3 delta 5, French, USA BGMUT_272 protEffect exon 5 skipped; fs BGMUT_274 alias FUT1 349T BGMUT_274 commonName Reunion Island BGMUT_274 phenoCommon Reunion BGMUT_274 protEffect H117Y BGMUT_275 alias FUT1 442T BGMUT_275 commonName h4 (Japan) BGMUT_275 phenoCommon para-Bombay BGMUT_275 protEffect D148Y BGMUT_276 alias FUT1 460C, 1042A BGMUT_276 commonName h5 (Japan) BGMUT_276 phenoCommon para-Bombay BGMUT_276 protEffect Y154H; E348K BGMUT_277 alias FUT1 460C BGMUT_277 commonName h5 (Taiwan) BGMUT_277 phenoCommon para-Bombay BGMUT_277 protEffect Y154H BGMUT_278 alias FUT1 461G BGMUT_278 commonName Europe 1 BGMUT_278 phenoCommon Bombay BGMUT_278 protEffect Y154C BGMUT_279 alias FUT1 462A BGMUT_279 commonName h6 (Japan) BGMUT_279 phenoCommon Bombay BGMUT_279 protEffect Y154X BGMUT_28 alias O03 exonic BGMUT_28 commonName O03 BGMUT_28 phenoCommon O BGMUT_28 protEffect P74S; R176G; G268R BGMUT_280 alias USA1 BGMUT_280 commonName FUT1 491A BGMUT_280 phenoCommon para-Bombay BGMUT_280 protEffect L164H BGMUT_281 alias FUT1 513C BGMUT_281 commonName Europe 2 BGMUT_281 phenoCommon Bombay BGMUT_281 protEffect W171C BGMUT_282 alias FUT1 522A BGMUT_282 commonName China BGMUT_282 phenoCommon para-Bombay BGMUT_282 protEffect F174L BGMUT_283 alias FUT1 547delAG BGMUT_283 commonName h1 (Taiwan) BGMUT_283 phenoCommon para-Bombay BGMUT_283 protEffect 182fs BGMUT_284 alias FUT1 658T BGMUT_284 commonName h3 (Taiwan) BGMUT_284 phenoCommon para-Bombay BGMUT_284 protEffect R220C BGMUT_285 alias FUT1 695A BGMUT_285 commonName h1 (Japan) BGMUT_285 phenoCommon Bombay BGMUT_285 protEffect W232X BGMUT_286 alias FUT1 721C BGMUT_286 commonName h3 (Japan) BGMUT_286 phenoCommon para-Bombay BGMUT_286 protEffect Y241H BGMUT_287 alias FUT1 725G BGMUT_287 commonName India BGMUT_287 phenoCommon Bombay BGMUT_287 protEffect L242R BGMUT_288 alias FUT1 776A BGMUT_288 commonName Europe 3 BGMUT_288 phenoCommon Bombay BGMUT_288 protEffect V259E BGMUT_289 alias FUT1 785A, 786A BGMUT_289 commonName Europe 4 BGMUT_289 phenoCommon Bombay BGMUT_289 protEffect S262K BGMUT_290 commonName FUT1 801C BGMUT_290 protEffect W267C BGMUT_291 commonName FUT1 801T BGMUT_291 protEffect W267C BGMUT_292 alias USA2 BGMUT_292 commonName FUT1 826T BGMUT_292 phenoCommon para-Bombay BGMUT_292 protEffect Q276X BGMUT_293 commonName FUT1 832A BGMUT_293 protEffect D278N BGMUT_294 alias FUT1 880delTT h2 BGMUT_294 commonName h2 (Taiwan) BGMUT_294 phenoCommon para-Bombay BGMUT_294 protEffect 294fs BGMUT_295 alias FUT1 522A BGMUT_295 commonName h6 (China) BGMUT_295 phenoCommon para-Bombay BGMUT_295 protEffect F174L BGMUT_296 alias FUT1 904 insAAC BGMUT_296 commonName h7 (Japan) BGMUT_296 phenoCommon para-Bombay BGMUT_296 protEffect H302-T303 insN BGMUT_297 alias FUT1 944T BGMUT_297 commonName Europe 5 BGMUT_297 phenoCommon Bombay BGMUT_297 protEffect A315V BGMUT_299 alias FUT1 990delG BGMUT_299 commonName h2 (Japan) BGMUT_299 phenoCommon para-Bombay BGMUT_299 protEffect 330fs BGMUT_30 commonName O04 BGMUT_30 phenoCommon O BGMUT_30 protEffect 88fs + truncation BGMUT_300 alias FUT1 1047C BGMUT_300 commonName Europe 6 BGMUT_300 phenoCommon Bombay BGMUT_300 protEffect W349C BGMUT_302 alias FUT2 428A BGMUT_302 commonName se2 (Reunion) BGMUT_302 phenoCommon non-secretor BGMUT_302 protEffect W143X; enzyme inactive BGMUT_303 alias FUT2 715del BGMUT_303 commonName Sec1 BGMUT_303 protEffect D238fs BGMUT_304 alias FUT2 357T BGMUT_304 commonName Se2 BGMUT_304 phenoCommon secretor BGMUT_304 protEffect no change BGMUT_308 alias FUT2 571T BGMUT_308 commonName se3 Japan, Philippines Polynesia, Taiwan BGMUT_308 phenoCommon non-secretor BGMUT_308 protEffect R191X BGMUT_309 alias FUT2 628T BGMUT_309 commonName se5 Japan BGMUT_309 phenoCommon non-secretor BGMUT_309 protEffect R210X BGMUT_31 commonName O05 BGMUT_31 phenoCommon O BGMUT_31 protEffect 88fs + truncation BGMUT_310 alias FUT2 658T BGMUT_310 commonName China BGMUT_310 phenoCommon non-secretor BGMUT_310 protEffect R220X BGMUT_311 alias FUT2 delGT BGMUT_311 commonName Taiwan BGMUT_311 phenoCommon non-secretor BGMUT_311 protEffect V230del BGMUT_312 alias FUT2 849A BGMUT_312 commonName se4 Philippines, Taiwan BGMUT_312 phenoCommon non-secretor BGMUT_312 protEffect W283X BGMUT_313 alias FUT2 40G BGMUT_313 commonName Se40 South Africa BGMUT_313 phenoCommon secretor BGMUT_313 protEffect I14V BGMUT_314 alias FUT2 481A BGMUT_314 commonName Se481 South Africa BGMUT_314 phenoCommon secretor BGMUT_314 protEffect D161N BGMUT_315 alias FUT2 40G, 481A BGMUT_315 commonName Se40, 481 South Africa BGMUT_315 phenoCommon secretor BGMUT_315 protEffect I14V; D161N BGMUT_316 alias FUT2 357T BGMUT_316 commonName Se357 Taiwan, new Quinea BGMUT_316 phenoCommon secretor BGMUT_316 protEffect no change BGMUT_317 alias FUT2 357T, 480T BGMUT_317 commonName Se357, 480 Africa new Guinea BGMUT_317 phenoCommon secretor BGMUT_317 protEffect no change BGMUT_318 alias FUT2 357T, 379T, 480T BGMUT_318 commonName Se South Africa BGMUT_318 phenoCommon secretor BGMUT_318 protEffect R127C BGMUT_319 alias FUT2 375G BGMUT_319 commonName Se375 South Africa BGMUT_319 phenoCommon secretor BGMUT_319 protEffect no change BGMUT_32 alias O06 exonic BGMUT_32 commonName O06 BGMUT_32 phenoCommon O BGMUT_32 protEffect 88fs + truncation BGMUT_320 alias FUT2 357T, 480T, 778delC BGMUT_320 commonName se 357, 480, 778 South Africa BGMUT_320 phenoCommon non-secretor BGMUT_320 protEffect 259fs 275X BGMUT_321 alias FUT2 385T BGMUT_321 commonName Se385 Polynesia, Taiwan (se2) BGMUT_321 phenoCommon weak secretor BGMUT_321 protEffect I129F BGMUT_322 alias FUT2 357T, 385T BGMUT_322 commonName se385 New Guinea BGMUT_322 protEffect I129F BGMUT_323 alias FUT2 400A BGMUT_323 commonName Se400 New Guinea BGMUT_323 protEffect V134I BGMUT_324 commonName se428 New Guinea BGMUT_324 protEffect W143X; G247S BGMUT_325 alias FUT2 357T, 571T BGMUT_325 commonName se571 New Guinea BGMUT_325 protEffect R191X BGMUT_326 alias FUT2 375G, 664T BGMUT_326 commonName se664 New Guinea BGMUT_326 phenoCommon non-secretor BGMUT_326 protEffect R222C BGMUT_327 alias FUT2 400A, 760A BGMUT_327 commonName se760 New Guinea BGMUT_327 phenoCommon non-secretor BGMUT_327 protEffect V134I; D254N BGMUT_328 alias FUT2 357T, 868A BGMUT_328 commonName se868 New Guinea BGMUT_328 phenoCommon non-secretor BGMUT_328 protEffect G290R BGMUT_329 alias FUT2 357T, 385T BGMUT_329 commonName sej Japan BGMUT_329 phenoCommon non-secretor BGMUT_329 protEffect I129F BGMUT_33 alias O06 intronic BGMUT_33 commonName O06 BGMUT_33 phenoCommon O BGMUT_33 protEffect none BGMUT_330 alias FUT2 688-690del BGMUT_330 commonName se7 BGMUT_330 phenoCommon non-secretor BGMUT_330 protEffect 230delV BGMUT_332 commonName GYPA N BGMUT_332 phenoCommon N BGMUT_332 protEffect S20L; G24E BGMUT_334 commonName GYPB S BGMUT_334 phenoCommon S BGMUT_334 protEffect T48M BGMUT_337 alias GYPA 78R BGMUT_337 commonName GYP Erik/Sta BGMUT_337 phenoCommon ERIK/Sta BGMUT_337 protEffect G78R + /- DTHKRDT YAATPRA HEVSEISV RTVYPPEEET27-78del (sequence encoded by exon 3 is not expressed) BGMUT_338 alias GYPA 84P BGMUT_338 commonName GYP HAG BGMUT_338 phenoCommon HAG BGMUT_338 protEffect A84P BGMUT_34 commonName O07 BGMUT_34 phenoCommon O BGMUT_34 protEffect 88fs + truncation BGMUT_35 commonName O08 BGMUT_35 phenoCommon O BGMUT_35 protEffect P156L; 268fs; also 354fs (residues 269-354 are altered) BGMUT_359 alias GYPB 161A BGMUT_359 commonName GYP Mit BGMUT_359 phenoCommon Mit BGMUT_359 protEffect R54H BGMUT_36 commonName O09 BGMUT_36 phenoCommon O BGMUT_36 protEffect 88fs + truncation BGMUT_361 alias GYPA 230T BGMUT_361 commonName GYPA Mta BGMUT_361 phenoCommon Mta BGMUT_361 protEffect T77I BGMUT_362 alias GYPB 65G BGMUT_362 commonName GYPB M(V) BGMUT_362 phenoCommon M(v) BGMUT_362 protEffect T22S BGMUT_363 alias GYPA 138A BGMUT_363 commonName GYPA Nya BGMUT_363 phenoCommon Nya BGMUT_363 protEffect D46E BGMUT_364 alias GYPA 217T BGMUT_364 commonName GYPA Osa BGMUT_364 phenoCommon Osa BGMUT_364 protEffect P73S BGMUT_365 alias GYPB 173G BGMUT_365 commonName GYPB s(D) BGMUT_365 phenoCommon s(D) BGMUT_365 protEffect P58R BGMUT_37 commonName O10 BGMUT_37 phenoCommon O BGMUT_37 protEffect 88fs + truncation BGMUT_373 alias GYPA 66Y BGMUT_373 commonName GYP Vr BGMUT_373 phenoCommon Vr BGMUT_373 protEffect S66Y BGMUT_375 commonName IGnTC 505A BGMUT_375 phenoCommon adult i in Caucasians; no cataract BGMUT_375 protEffect A169T BGMUT_376 commonName IGnTC 683A BGMUT_376 phenoCommon adult i in Caucasians; no cataract BGMUT_376 protEffect R228Q BGMUT_377 commonName IGnTC 816C BGMUT_377 phenoCommon common I and adult i (the latter with congenital cataract) BGMUT_377 protEffect E272D BGMUT_379 alias IGnT 1043A BGMUT_379 commonName IGnT A, B, C 1 BGMUT_379 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_379 protEffect G348E BGMUT_38 alias O11 exonic BGMUT_38 commonName O11 BGMUT_38 phenoCommon O BGMUT_38 protEffect 88fs + truncation BGMUT_380 alias IGnT 1148A BGMUT_380 commonName IGnT A, B, C 2 BGMUT_380 phenoCommon adult i in Taiwanese; congenital cataract BGMUT_380 protEffect R383H BGMUT_382 commonName IGnTB 978A BGMUT_382 phenoCommon adult i in Arabs (four families); congenital cataract BGMUT_382 protEffect W326X BGMUT_383 alias CD44 137C, 207C, 255C, 326C, 716A BGMUT_383 commonName IN1 (In a) BGMUT_383 phenoCommon In a+ b- BGMUT_383 protEffect R46P; A69A; H85H; Y109S; G239E BGMUT_387 alias 838A BGMUT_387 commonName JKB BGMUT_387 phenoCommon Jk(a-b+) BGMUT_387 protEffect D280N BGMUT_388 alias Delta 6 BGMUT_388 commonName JKB(BS) BGMUT_388 phenoCommon Jk(a-b-) BGMUT_388 protEffect 114-156 del (exon 6) BGMUT_389 alias Delta 7 BGMUT_389 commonName JKB (LP) BGMUT_389 phenoCommon Jk(a-b-) BGMUT_389 protEffect 157-221 del (exon 7); fs + premature X BGMUT_39 alias O11 intronic BGMUT_39 commonName O11 BGMUT_39 phenoCommon O BGMUT_390 commonName JKB 871C BGMUT_390 phenoCommon Jk(a-b-) BGMUT_390 protEffect S291P BGMUT_391 commonName JKA (delta4, 5 + E*) BGMUT_391 phenoCommon Jk(a-b-) BGMUT_391 protEffect protein not expressed BGMUT_392 alias 582G BGMUT_392 commonName JKA Swiss BGMUT_392 phenoCommon Jk(a-b-) BGMUT_392 protEffect Y194X BGMUT_393 commonName JKA English BGMUT_393 phenoCommon Jk(a-b-) BGMUT_393 protEffect protein not expressed BGMUT_395 alias 578T BGMUT_395 commonName KEL1 1 BGMUT_395 phenoCommon K1 BGMUT_395 protEffect T193M BGMUT_396 alias 578G BGMUT_396 commonName KEL1 2 BGMUT_396 phenoCommon K1 BGMUT_396 protEffect T193R BGMUT_397 alias 577T; KEL 1-Ser193 BGMUT_397 commonName KEL1 3 BGMUT_397 phenoCommon K1; may also express K2 BGMUT_397 protEffect T193S BGMUT_398 alias 841T BGMUT_398 commonName KEL3 BGMUT_398 phenoCommon K3 BGMUT_398 protEffect R281W BGMUT_399 alias 842A BGMUT_399 commonName KEL21 BGMUT_399 phenoCommon K21 BGMUT_399 protEffect R281Q BGMUT_4 commonName A102 BGMUT_4 phenoCommon A1 BGMUT_4 protEffect P156L BGMUT_40 alias O12 exonic BGMUT_40 commonName O12 BGMUT_40 phenoCommon O BGMUT_40 protEffect 88fs + truncation BGMUT_400 alias KEL 1790C, 1899G BGMUT_400 commonName KEL6 BGMUT_400 phenoCommon K6; Jsa BGMUT_400 protEffect L597P, L633L BGMUT_401 alias 1481T BGMUT_401 commonName KEL10 BGMUT_401 phenoCommon K10 BGMUT_401 protEffect E494V BGMUT_402 alias 905C BGMUT_402 commonName KEL17 BGMUT_402 phenoCommon K17 BGMUT_402 protEffect V302A BGMUT_403 alias 1145G BGMUT_403 commonName KEL23 BGMUT_403 protEffect Q382R BGMUT_404 alias 539C BGMUT_404 commonName KEL23 BGMUT_404 phenoCommon K24 BGMUT_404 protEffect R180P BGMUT_405 alias KEL 1643G BGMUT_405 commonName KEL12 BGMUT_405 phenoCommon K12 BGMUT_405 protEffect H548R BGMUT_406 alias KEL 388T, 389A BGMUT_406 commonName KEL18 BGMUT_406 phenoCommon K18 BGMUT_406 protEffect R130W; R130Q BGMUT_407 alias KEL 1475A BGMUT_407 commonName KEL19 BGMUT_407 phenoCommon K19 BGMUT_407 protEffect R492Q BGMUT_408 alias KEL 965T BGMUT_408 commonName KEL22 BGMUT_408 phenoCommon K-22 BGMUT_408 protEffect A322V BGMUT_409 alias VLAN BGMUT_409 commonName KEL25 BGMUT_409 phenoCommon VLAN BGMUT_409 protEffect R248Q BGMUT_41 alias O12 intronic BGMUT_41 commonName O12 BGMUT_41 phenoCommon O BGMUT_41 protEffect none BGMUT_410 commonName KEL 742T BGMUT_410 protEffect R248W BGMUT_411 alias TOU BGMUT_411 commonName KEL26 BGMUT_411 phenoCommon K26 BGMUT_411 protEffect R406Q BGMUT_412 alias RAZ BGMUT_412 commonName KEL27 BGMUT_412 phenoCommon RAZ BGMUT_412 protEffect E249K BGMUT_413 alias KEL 1268T BGMUT_413 commonName KEL 20 BGMUT_413 phenoCommon K2 weak BGMUT_413 protEffect A423V BGMUT_415 alias KEL 1088A, 2030G BGMUT_415 commonName KEL mod-2 BGMUT_415 protEffect S363N; Y677C BGMUT_416 alias KEL 986C,1596A BGMUT_416 commonName KEL mod-3 BGMUT_416 protEffect L329P; W532X BGMUT_417 alias KEL 2107A, 1719T BGMUT_417 commonName KEL mod-4 BGMUT_417 protEffect G703R BGMUT_418 alias KEL intron3 1C BGMUT_418 commonName Ko BGMUT_418 phenoCommon Ko; Kell null BGMUT_418 protEffect Protein not expressed. BGMUT_419 alias KEL 382T BGMUT_419 commonName Ko (Michigan, North Carolina) BGMUT_419 phenoCommon Ko; Kell null BGMUT_419 protEffect R128X BGMUT_42 commonName O13 BGMUT_42 phenoCommon O BGMUT_42 protEffect 88fs + truncation BGMUT_420 alias KEL 246A BGMUT_420 commonName Ko (Yougoslavia) BGMUT_420 phenoCommon Ko; Kell null BGMUT_420 protEffect C82X BGMUT_421 alias KEL 1042T BGMUT_421 commonName Ko (Portugal) BGMUT_421 phenoCommon Ko; Kell null BGMUT_421 protEffect Q348X BGMUT_422 alias KEL 2027A BGMUT_422 commonName Ko (Israel) BGMUT_422 phenoCommon Ko; Kell null BGMUT_422 protEffect S676N BGMUT_423 alias KEL intron3 1A BGMUT_423 commonName Ko (Reunion island, Seattle) BGMUT_423 phenoCommon Ko; Kell null BGMUT_423 protEffect Protein not expressed. BGMUT_424 alias KEL 1088A BGMUT_424 commonName Ko (Seattle, New York) BGMUT_424 phenoCommon Ko; Kell null BGMUT_424 protEffect S363N BGMUT_425 alias KEL 574T,1088A BGMUT_425 commonName Ko (New York) BGMUT_425 phenoCommon Ko; Kell null BGMUT_425 protEffect R192X BGMUT_426 alias KEL 1377A BGMUT_426 commonName Ko (Japan 1) BGMUT_426 phenoCommon Ko; Kell null BGMUT_426 protEffect W459X BGMUT_427 alias KEL intron5 3'G BGMUT_427 commonName Ko (Japan2) BGMUT_427 phenoCommon Ko; Kell null BGMUT_427 protEffect fs + termination BGMUT_428 alias KEL 1420T BGMUT_428 commonName Ko (Sweden1) BGMUT_428 phenoCommon Ko; Kell null BGMUT_428 protEffect Q474X BGMUT_429 alias KEL 903delG BGMUT_429 commonName Ko (Sweden2) BGMUT_429 phenoCommon Ko; Kell null BGMUT_429 protEffect 301fs BGMUT_43 commonName O14 BGMUT_43 phenoCommon O BGMUT_43 protEffect P156L; A298V BGMUT_431 alias KN2; KNB BGMUT_431 commonName CR1 4681A BGMUT_431 phenoCommon Kn(b +) BGMUT_431 protEffect V1561M BGMUT_433 alias KN6; KN McCB BGMUT_433 commonName CR1 4768G BGMUT_433 phenoCommon McC(b +) BGMUT_433 protEffect K1590E BGMUT_435 alias KN VIL BGMUT_435 commonName CR1 4801G BGMUT_435 phenoCommon Vil + (Sl2) BGMUT_435 protEffect R1601G BGMUT_437 alias KN Sl3 BGMUT_437 commonName CR1 4828A BGMUT_437 phenoCommon Sl3; needs Sl2 for expression BGMUT_437 protEffect S1610T BGMUT_439 alias KN L BGMUT_439 commonName CR1 L BGMUT_439 protEffect T445A; I684T; Q1022H; H1208R; I1615V; P1827R BGMUT_44 commonName O15 BGMUT_44 phenoCommon O BGMUT_44 protEffect Y309X BGMUT_444 commonName CR1 180A BGMUT_444 protEffect none BGMUT_445 commonName CR1 954C BGMUT_445 protEffect none BGMUT_446 commonName CR1 1329G BGMUT_446 protEffect none BGMUT_447 commonName CR1 1333A BGMUT_447 protEffect A445T BGMUT_448 commonName CR1 2051C BGMUT_448 protEffect I684T BGMUT_449 commonName CR1 2340C BGMUT_449 protEffect none BGMUT_45 commonName O16 BGMUT_45 phenoCommon O BGMUT_45 protEffect 88fs + truncation BGMUT_450 commonName CR1 3066T BGMUT_450 protEffect Q1022H BGMUT_451 commonName CR1 3623G BGMUT_451 protEffect H1208R BGMUT_452 commonName CR 1 4014C BGMUT_452 protEffect none BGMUT_453 commonName CR1 4145C BGMUT_453 protEffect S1382T BGMUT_454 commonName CR1 4223T BGMUT_454 protEffect T1408I BGMUT_455 commonName CR1 4843G BGMUT_455 phenoCommon KAM+ BGMUT_455 protEffect I1615V BGMUT_456 commonName CR1 5397G BGMUT_456 protEffect I1799M BGMUT_457 commonName CR1 5480G BGMUT_457 protEffect P1827R BGMUT_458 commonName CR1 5548G BGMUT_458 protEffect H1850D BGMUT_459 commonName CR1 5627T BGMUT_459 protEffect T1876I BGMUT_46 commonName O17 BGMUT_46 phenoCommon O BGMUT_46 protEffect 88fs + truncation BGMUT_461 alias FUT3 47C, 508A BGMUT_461 commonName le 47, 508 Sri Lanka BGMUT_461 phenoCommon Lewis negative BGMUT_461 protEffect C16S; G170S BGMUT_462 alias FUT3 47C, 202C, 314T BGMUT_462 commonName le47, 202, 314 Sri Lanka BGMUT_462 phenoCommon Lewis negative BGMUT_462 protEffect C16S; W68R; T105M BGMUT_463 alias FUT3 59G, le3, le1 Indonesia (L1), Japan and Sweden (le3), Denmark (le1) BGMUT_463 commonName L1 BGMUT_463 phenoCommon red cell Lewis negative; saliva Lewis positive BGMUT_463 protEffect L20R BGMUT_464 alias FUT3 1067A, le2 Indonesia(L2), Denmark (le2) BGMUT_464 commonName Le2 BGMUT_464 phenoCommon negative BGMUT_464 protEffect I356K BGMUT_465 alias FUT3 59G, 508A BGMUT_465 commonName le1, le4 Japan (le1), Denmark (le4) BGMUT_465 phenoCommon negative BGMUT_465 protEffect L20R; G170S BGMUT_466 alias FUT3 59G, 1067A BGMUT_466 commonName le2 Indonesia (le2), Japan (le3), Denmark BGMUT_466 phenoCommon negative BGMUT_466 protEffect L20R; I356K BGMUT_467 alias FUT3 202C, 314T BGMUT_467 commonName le5 Denmark and Sweden BGMUT_467 phenoCommon negative BGMUT_467 protEffect W68R; T105M BGMUT_468 alias FUT3 202C, 1067A BGMUT_468 commonName le6 Denmark BGMUT_468 phenoCommon negative BGMUT_468 protEffect W68R; I356K BGMUT_469 commonName le7 Denmark and Sweden BGMUT_469 phenoCommon negative BGMUT_469 protEffect L20R; L149M BGMUT_47 commonName O18 BGMUT_47 phenoCommon O BGMUT_47 protEffect 88fs + truncation BGMUT_470 alias FUT3 202C, 314T, 484A BGMUT_470 commonName le Caucasian (South Africa) BGMUT_470 phenoCommon negative BGMUT_470 protEffect W68R; T105M; D162N BGMUT_471 alias FUT3 484A, 667A BGMUT_471 commonName le1 Africa (Xhosa) BGMUT_471 phenoCommon negative BGMUT_471 protEffect D162N; G227R BGMUT_472 alias FUT3 484A, 667A, 808A BGMUT_472 commonName le2 Africa (Xhosa) BGMUT_472 phenoCommon negative BGMUT_472 protEffect D162N; G227R; V270M BGMUT_473 alias FUT3 760A BGMUT_473 commonName Indonesia BGMUT_473 phenoCommon negative BGMUT_473 protEffect D254N BGMUT_474 alias FUT3 304A BGMUT_474 commonName Le Caucasian (South Africa) BGMUT_474 phenoCommon positive BGMUT_474 protEffect Q102K BGMUT_475 alias FUT3 370G BGMUT_475 commonName Le Africa (Xhosa) BGMUT_475 phenoCommon positive BGMUT_475 protEffect S124A BGMUT_477 alias FUT6 370T, 730G, 907G BGMUT_477 commonName Jakarta, Indonesia 1 BGMUT_477 protEffect P124S; L244V; R303G BGMUT_478 alias FUT6 370T, 907G BGMUT_478 commonName Jakarta, Indonesia 2 BGMUT_478 protEffect P124S; R303G BGMUT_479 alias FUT6 370T, 739A BGMUT_479 commonName M1, M2 Jakarta, Indonesia, Sweden BGMUT_479 protEffect P124S; E247K BGMUT_48 commonName O19 BGMUT_48 phenoCommon O BGMUT_48 protEffect F216I; V277M BGMUT_480 alias FUT6 739A, 945A BGMUT_480 commonName M2, M4 Jakarta, Indonesia, Sweden BGMUT_480 protEffect E247K; Y315X BGMUT_482 alias FUT6 63A BGMUT_482 commonName A2 Xhosa, Africa BGMUT_482 protEffect L21L BGMUT_483 alias FUT6 63A, 172A, 376T BGMUT_483 commonName A3 Xhosa, Africa BGMUT_483 protEffect L21L; A58T; R126W BGMUT_484 alias FUT6 63A, 172A, 376T, 527T BGMUT_484 commonName A4 Xhosa, Africa BGMUT_484 protEffect L21L; A58T; R126W; G127V BGMUT_485 alias FUT6 729C BGMUT_485 commonName A5 Xhosa, Africa BGMUT_485 protEffect Y243Y BGMUT_486 alias FUT6 738T, 977A BGMUT_486 commonName A6 Japan, Europe, Xhosa, Africa BGMUT_486 protEffect F246F; R326Q BGMUT_487 alias FUT6 1002G BGMUT_487 commonName A7 Xhosa, Africa BGMUT_487 protEffect L334L BGMUT_488 alias FUT6 370T, 1002G BGMUT_488 commonName A8 Xhosa, Africa BGMUT_488 protEffect P124S; L334L BGMUT_489 alias FUT6 370T, 907G, 1002G BGMUT_489 commonName A9 Xhosa, Africa BGMUT_489 protEffect P124S; R303G; L334L BGMUT_49 commonName O20 BGMUT_49 phenoCommon O BGMUT_49 protEffect F216I; V277M BGMUT_490 alias FUT6 879T, 971T, 1002G BGMUT_490 commonName A10 Xhosa, Africa BGMUT_490 protEffect D293D; T324M; L334L BGMUT_491 alias FUT6 855A, 1002G BGMUT_491 commonName A11 Japan, Europe, Xhosa, Africa BGMUT_491 protEffect P285P; L334L BGMUT_492 alias FUT6 370T, 739A, 1002G BGMUT_492 commonName B1 Xhosa, Africa BGMUT_492 protEffect P124S; E247K; L334L BGMUT_493 alias FUT6 370T, 739A, 945A, 1002G BGMUT_493 commonName B2 Xhosa, Africa BGMUT_493 protEffect P124S; E247K; Y315X BGMUT_494 alias FUT6 18A, 336A, 499insC, 855A, 1002G BGMUT_494 commonName B3 Xhosa, Africa BGMUT_494 protEffect P6P; V112V; 167fs BGMUT_495 alias FUT6 18A, 336A, 499insC, 855A, 977A, 1002G BGMUT_495 commonName B4 Xhosa, Africa BGMUT_495 protEffect P6P; V112V; 167fs BGMUT_497 commonName FUT7 329A BGMUT_497 protEffect R110E BGMUT_498 alias LU 230A BGMUT_498 commonName LUA, LU1 BGMUT_498 phenoCommon Lu(a + b-) or Lu(a + b +) BGMUT_498 protEffect R77H BGMUT_499 alias Lu 1615A BGMUT_499 commonName AUA, LU18 BGMUT_499 phenoCommon Au(a + b-) or Au(a + b +) BGMUT_499 protEffect A539T BGMUT_5 commonName A103 BGMUT_5 phenoCommon A1 BGMUT_5 protEffect P156L; none BGMUT_50 alias O21 exonic BGMUT_50 commonName O21 BGMUT_50 phenoCommon O BGMUT_50 protEffect fs + truncation BGMUT_502 alias LU 524A BGMUT_502 commonName LU--4 BGMUT_502 phenoCommon Lu-4 BGMUT_502 protEffect R175Q BGMUT_503 alias LU 326A BGMUT_503 commonName LU-5 BGMUT_503 phenoCommon Lu-5 BGMUT_503 protEffect R109H BGMUT_504 alias LU 824T BGMUT_504 commonName LU9 BGMUT_504 phenoCommon Lu9 BGMUT_504 protEffect S275F BGMUT_505 alias LU 1878T BGMUT_505 commonName LU-11 BGMUT_505 phenoCommon Lu-11 BGMUT_505 protEffect D626D BGMUT_506 alias LU 611A BGMUT_506 commonName LU14 BGMUT_506 phenoCommon Lu14 BGMUT_506 protEffect M204K BGMUT_507 alias LU 99-104del BGMUT_507 commonName LU-12 99del BGMUT_507 phenoCommon Lu-12 BGMUT_507 protEffect R34; L35del BGMUT_508 alias LU 419A BGMUT_508 commonName LU-12 419A BGMUT_508 phenoCommon Lu-12 BGMUT_508 protEffect R140Q BGMUT_509 commonName LU-13 BGMUT_509 phenoCommon Lu-13 BGMUT_509 protEffect S447L; Q581L BGMUT_51 alias O21 intronic BGMUT_51 commonName O21 BGMUT_51 phenoCommon O BGMUT_510 alias LU 679T BGMUT_510 commonName LU-16 BGMUT_510 phenoCommon Lu-16 BGMUT_510 protEffect R227C BGMUT_511 commonName LU-17 BGMUT_511 phenoCommon Lu-17 BGMUT_511 protEffect E114K BGMUT_512 alias LU 905T BGMUT_512 commonName LU-20 BGMUT_512 phenoCommon Lu-20 BGMUT_512 protEffect T302M BGMUT_513 alias LU 282G BGMUT_513 commonName LU-21 BGMUT_513 phenoCommon Lu-21 BGMUT_513 protEffect D94E BGMUT_514 commonName LU 711A BGMUT_514 phenoCommon Lu a-b- BGMUT_514 protEffect C237X BGMUT_516 alias LW 299G; LW7 BGMUT_516 commonName LWB BGMUT_516 phenoCommon LW(a-b+) or LW(a+b+) BGMUT_516 protEffect Q100R BGMUT_517 alias LW 346del BGMUT_517 commonName LW Big BGMUT_517 phenoCommon LW(a-b-) BGMUT_517 protEffect 116del; 118X BGMUT_519 alias BSG 370T BGMUT_519 commonName OK1 BGMUT_519 phenoCommon Ok(a +) BGMUT_519 protEffect none BGMUT_52 commonName O22 BGMUT_52 phenoCommon O BGMUT_52 protEffect 88fs + truncation BGMUT_520 alias BSG 274A BGMUT_520 commonName OK2 BGMUT_520 phenoCommon Ok(a-) BGMUT_520 protEffect E92K BGMUT_521 alias BSG 176T,195T,234G BGMUT_521 commonName OK (SM) BGMUT_521 phenoCommon Ok(a-) BGMUT_521 protEffect G59V BGMUT_522 alias BSG 327C BGMUT_522 commonName OK3 BGMUT_522 phenoCommon OK(a +) BGMUT_522 protEffect none BGMUT_524 alias p 68insT BGMUT_524 commonName A4GALT 68insT BGMUT_524 phenoCommon p BGMUT_524 protEffect L23fs; 53X BGMUT_525 alias p 237 delCTT BGMUT_525 commonName A4GALT 237 delCTT BGMUT_525 phenoCommon p BGMUT_525 protEffect F80del BGMUT_526 alias p 241 delTTC BGMUT_526 commonName A4GALT 241 delTTC BGMUT_526 phenoCommon p BGMUT_526 protEffect F81del BGMUT_527 alias p 287A BGMUT_527 commonName A4GALT 287A BGMUT_527 phenoCommon p BGMUT_527 protEffect C96Y BGMUT_528 alias p 109G; 290T BGMUT_528 commonName A4GALT 109G; 290T BGMUT_528 phenoCommon p BGMUT_528 protEffect S97L; M37V; T329T BGMUT_529 alias p 300delG BGMUT_529 commonName A4GALT 300delG BGMUT_529 phenoCommon p BGMUT_529 protEffect 101fs BGMUT_53 commonName O23 BGMUT_53 phenoCommon O BGMUT_53 protEffect 88fs + truncation BGMUT_530 alias p 470ins BGMUT_530 commonName A4GALT 470ins BGMUT_530 phenoCommon p BGMUT_530 protEffect 157fs BGMUT_531 alias p 473A BGMUT_531 commonName A4GALT 473A BGMUT_531 phenoCommon p BGMUT_531 protEffect W158X BGMUT_532 alias p 502insC, 914T BGMUT_532 commonName A4GALT 502insC, 914T BGMUT_532 phenoCommon p BGMUT_532 protEffect 167fs; 281X; P305P BGMUT_533 alias p 548A BGMUT_533 commonName A4GALT 548A BGMUT_533 phenoCommon p BGMUT_533 protEffect M183K BGMUT_534 alias p 548A, 987A BGMUT_534 commonName A4GALT 548A, 987A BGMUT_534 phenoCommon p BGMUT_534 protEffect M183K BGMUT_535 alias p 560A BGMUT_535 commonName A4GALT 560A BGMUT_535 phenoCommon p BGMUT_535 protEffect G187D BGMUT_536 alias p 656T BGMUT_536 commonName A4GALT 656T BGMUT_536 phenoCommon p BGMUT_536 protEffect A219V BGMUT_537 alias p 657delG BGMUT_537 commonName A4GALT 657delG BGMUT_537 phenoCommon p BGMUT_537 protEffect A219fs; 348X BGMUT_538 alias p 733insG, 903G BGMUT_538 commonName A4GALT 733insG, 903G BGMUT_538 phenoCommon p BGMUT_538 protEffect 245fs; P301P BGMUT_539 alias p 751T BGMUT_539 commonName A4GALT 751T BGMUT_539 phenoCommon p BGMUT_539 protEffect P251S BGMUT_54 commonName O24 BGMUT_54 phenoCommon O BGMUT_54 protEffect 88fs + truncation BGMUT_540 alias p 752T BGMUT_540 commonName A4GALT 752T BGMUT_540 phenoCommon p BGMUT_540 protEffect P251L BGMUT_541 alias p 752T, 903G BGMUT_541 commonName A4GALT 752T, 903G BGMUT_541 phenoCommon p BGMUT_541 protEffect P251L; P301P BGMUT_542 alias p 109G, 903G, 987A BGMUT_542 commonName A4GALT 109G, 903G, 987A BGMUT_542 phenoCommon p BGMUT_542 protEffect M37V; P301 P; T329T BGMUT_543 alias p 972-997del BGMUT_543 commonName A4GALT 972-997del BGMUT_543 phenoCommon p BGMUT_543 protEffect 331fs; extra 83 aa residues BGMUT_544 alias p 972-997del, 109G, 903G BGMUT_544 commonName A4GALT 972-997del, 109G, 903G BGMUT_544 phenoCommon p BGMUT_544 protEffect 331fs: extra 83 aa residues; M37V; P301P BGMUT_545 alias p 769delG, 903G BGMUT_545 commonName A4GALT 769delG, 903G BGMUT_545 phenoCommon p BGMUT_545 protEffect 256fs BGMUT_546 alias p 783A BGMUT_546 commonName A4GALT 783A BGMUT_546 phenoCommon p BGMUT_546 protEffect W261X BGMUT_547 alias p 902 delC BGMUT_547 commonName A4GALT 902 delC BGMUT_547 phenoCommon p BGMUT_547 protEffect 301fs; 349X BGMUT_548 alias p 1026insC BGMUT_548 commonName A4GALT 1026insC BGMUT_548 phenoCommon p BGMUT_548 protEffect 342fs BGMUT_549 alias P2 -550insC BGMUT_549 commonName A4GALT -550insC BGMUT_549 phenoCommon P2 BGMUT_549 protEffect none BGMUT_55 commonName O25 BGMUT_55 phenoCommon O BGMUT_55 protEffect 88fs + truncation BGMUT_550 alias P2 -160G BGMUT_550 commonName A4GALT -160G BGMUT_550 phenoCommon P2 BGMUT_550 protEffect none BGMUT_552 commonName B3GALT3 202T BGMUT_552 phenoCommon P2k BGMUT_552 protEffect 67X BGMUT_553 commonName B3GALT3 292-293insT BGMUT_553 phenoCommon P1k BGMUT_553 protEffect 97fs; 102X BGMUT_554 commonName B3GALT3 433T BGMUT_554 phenoCommon P1k BGMUT_554 protEffect R145X BGMUT_555 commonName B3GALT3 538insA BGMUT_555 phenoCommon P2k BGMUT_555 protEffect 180fs; 182X BGMUT_556 commonName B3GALT3 648C BGMUT_556 phenoCommon P1k BGMUT_556 protEffect R216S BGMUT_557 commonName B3GALT3 797C BGMUT_557 phenoCommon P2k BGMUT_557 protEffect E266A BGMUT_558 commonName B3GALT3 811A BGMUT_558 phenoCommon P1k BGMUT_558 protEffect G271R BGMUT_559 commonName B3GALT3 959A BGMUT_559 phenoCommon P1k BGMUT_559 protEffect W319X BGMUT_56 alias Ovar.tlse02; O26 exonic BGMUT_56 commonName O26 BGMUT_56 phenoCommon O BGMUT_56 protEffect 88fs + truncation BGMUT_563 alias RHD 1060A BGMUT_563 commonName RHD II BGMUT_563 phenoCommon DII BGMUT_563 protEffect A354N BGMUT_564 alias RHD 455C; 602G; 667G BGMUT_564 commonName RHD IIIa BGMUT_564 phenoCommon DIIIa BGMUT_564 protEffect N152T; T201R; F223V BGMUT_567 alias RHD 186T, 410T, 455C BGMUT_567 commonName RHD III type 4 BGMUT_567 phenoCommon DIII type4 BGMUT_567 protEffect L62F; A137V; N152T BGMUT_568 commonName RHD III type 5 BGMUT_568 phenoCommon DIII type5 BGMUT_568 protEffect L62F; A137V; N152T; T201R; F223V BGMUT_570 alias RHD (186T, 455C, 1048C) BGMUT_570 commonName RHD IVa BGMUT_570 phenoCommon DIVa BGMUT_570 protEffect L62F; N152T; D350H BGMUT_573 alias RHD 667G, 697C BGMUT_573 commonName RHD BGMUT_573 phenoCommon DVa BGMUT_573 protEffect F223V; E233Q BGMUT_575 commonName RHD Va 2 BGMUT_575 phenoCommon DVa BGMUT_575 protEffect F223V; E233Q; V238M; V425L BGMUT_576 alias RHD 697A BGMUT_576 commonName RHD Va 3 BGMUT_576 phenoCommon DVa BGMUT_576 protEffect E233Q BGMUT_58 commonName O27 BGMUT_58 phenoCommon O BGMUT_58 protEffect 88fs + truncation BGMUT_580 alias RHD 329C BGMUT_580 commonName RHD VII BGMUT_580 phenoCommon DVII BGMUT_580 protEffect L110P BGMUT_581 alias RHD 307C, 329C BGMUT_581 commonName RHD VII-like BGMUT_581 phenoCommon DVII-like BGMUT_581 protEffect S103P; L110P BGMUT_582 alias RHD 602G, 667G, 1025C BGMUT_582 commonName RHD DAR BGMUT_582 phenoCommon DAR BGMUT_582 protEffect T201R; F223V; I342T BGMUT_583 alias RHD 505C, 509G, 514T (RHD1-3 CE4 D5-10) BGMUT_583 commonName RHD DFR-1 BGMUT_583 phenoCommon DFR BGMUT_583 protEffect M169L; M170R; I172F BGMUT_587 alias RHD 848T BGMUT_587 commonName RHD DHMi BGMUT_587 phenoCommon DHMi BGMUT_587 protEffect T283I BGMUT_588 alias RHD 854A BGMUT_588 commonName RHD DIM BGMUT_588 phenoCommon DIM BGMUT_588 protEffect C285Y BGMUT_589 alias RHD 1057A BGMUT_589 commonName RHD DNU (DNB) BGMUT_589 phenoCommon DNU (DNB) BGMUT_589 protEffect G353R BGMUT_59 commonName O28 BGMUT_59 phenoCommon O BGMUT_59 protEffect 88fs + truncation BGMUT_590 alias RHD 497C BGMUT_590 commonName RHD DFW BGMUT_590 phenoCommon DFW BGMUT_590 protEffect H166P BGMUT_591 alias RHD 1063A BGMUT_591 commonName RHD DNB BGMUT_591 phenoCommon DNB BGMUT_591 protEffect G355S BGMUT_592 alias RHD 621C BGMUT_592 commonName RHD DMA BGMUT_592 phenoCommon DMA BGMUT_592 protEffect L207F BGMUT_593 alias RHD 1073T BGMUT_593 commonName RHD DWI BGMUT_593 phenoCommon DWI BGMUT_593 protEffect M358T BGMUT_594 alias RHD 680C BGMUT_594 commonName RHD DBA BGMUT_594 phenoCommon DBA BGMUT_594 protEffect L227P BGMUT_595 alias RHD 851T BGMUT_595 commonName RHD DLO BGMUT_595 phenoCommon DLO BGMUT_595 protEffect S284L BGMUT_596 commonName RHD 384C BGMUT_596 protEffect no change BGMUT_598 alias RHD 8G BGMUT_598 commonName RHD weak D type 3 BGMUT_598 phenoCommon weak D(Du) type 3 BGMUT_598 protEffect S3C BGMUT_599 alias RHD 29A BGMUT_599 commonName RHD weak D(Du) type 6 BGMUT_599 phenoCommon weak D(Du) type 6 BGMUT_599 protEffect R10Q BGMUT_6 commonName A104 BGMUT_6 phenoCommon A1 BGMUT_6 protEffect T99T BGMUT_60 commonName O29 BGMUT_60 phenoCommon O BGMUT_60 protEffect 88fs + truncation BGMUT_600 alias RHD 446A BGMUT_600 commonName RHD weak D(Du) type 5 BGMUT_600 phenoCommon weak D(Du) type5 BGMUT_600 protEffect A149D BGMUT_601 alias RHD 658C BGMUT_601 commonName RHD weak D type 16 BGMUT_601 phenoCommon weak D(Du) type16 BGMUT_601 protEffect W220R BGMUT_602 alias RHD 809G BGMUT_602 commonName RHD weak D type 1 BGMUT_602 phenoCommon weak D(Du) type 1 BGMUT_602 protEffect V270G BGMUT_603 alias RHD 826C BGMUT_603 commonName RHD weak D type 13 BGMUT_603 phenoCommon weak D(Du) type 13 BGMUT_603 protEffect A276P BGMUT_604 alias RHD 830A BGMUT_604 commonName RHD weak D type 12 BGMUT_604 phenoCommon weak D(Du) type 12 BGMUT_604 protEffect G277E BGMUT_605 alias RHD 845A BGMUT_605 commonName RHD weak D type 15 BGMUT_605 phenoCommon weak D(Du) type 15 BGMUT_605 protEffect G282D BGMUT_606 alias RHD 880C BGMUT_606 commonName RHD weak D(Du) type 9 BGMUT_606 phenoCommon weak D(Du) type 9 BGMUT_606 protEffect A294P BGMUT_607 alias RHD 885 BGMUT_607 commonName RHD weak D type 11 BGMUT_607 phenoCommon weak D(Du) type 11 BGMUT_607 protEffect M295I BGMUT_608 alias RHD 919A BGMUT_608 commonName RHD weak D(Du) type 8 BGMUT_608 phenoCommon weak D(Du) type 8 BGMUT_608 protEffect G307R BGMUT_609 alias RHD 1016A BGMUT_609 commonName RHD weak D(Du) type 7 BGMUT_609 phenoCommon weak D(Du) type 7 BGMUT_609 protEffect G339E BGMUT_61 commonName O30 BGMUT_61 phenoCommon O BGMUT_61 protEffect 88fs + truncation BGMUT_610 alias RHD 1154A BGMUT_610 commonName RHD weak D type 2 BGMUT_610 phenoCommon weak D(Du) type 2 BGMUT_610 protEffect G385A BGMUT_611 alias RHD 1177C BGMUT_611 commonName RHD weak D type 10 BGMUT_611 phenoCommon weak D(Du) type 10 BGMUT_611 protEffect W393R BGMUT_612 alias RHD 602G, 667G BGMUT_612 commonName RHD weak D type 4 a BGMUT_612 phenoCommon weak D(Du) type 4 BGMUT_612 protEffect T201R; F223V BGMUT_613 commonName RHD weak D type 4 b BGMUT_613 phenoCommon weak D(Du) type 4 BGMUT_613 protEffect T201R; F223V BGMUT_614 commonName RHD weak D type 4. 1 BGMUT_614 phenoCommon weak D(Du) type 4. 1 BGMUT_614 protEffect W16C; T201R; F223V BGMUT_615 commonName RHD weak D type 4. 21 BGMUT_615 phenoCommon weak D(Du) type 4. 21 BGMUT_615 protEffect T201R; F223V; I342T BGMUT_616 commonName RHD weak D(Du) type 4. 22 BGMUT_616 phenoCommon weak D(Du) type 4. 22 BGMUT_616 protEffect T201R; F223V; I342T BGMUT_617 alias RHD 340T BGMUT_617 commonName RHD weak D type 17 BGMUT_617 phenoCommon weak D(Du) type 17 BGMUT_617 protEffect R114W BGMUT_618 commonName RHD weak D type 29 BGMUT_618 phenoCommon weak D(Du) type 29 BGMUT_618 protEffect I60L; S68N; K198N; F223V; I342T BGMUT_619 commonName RHD weak D type 14 BGMUT_619 phenoCommon weak D(Du) type 14 BGMUT_619 protEffect S182T; K198N; T201R BGMUT_62 commonName O31 BGMUT_62 phenoCommon O BGMUT_62 protEffect 88fs + truncation BGMUT_620 alias RHD 634T BGMUT_620 commonName RHD weak D type 23 BGMUT_620 phenoCommon weak D type 23 BGMUT_620 protEffect G212C BGMUT_621 alias RHD 1013C BGMUT_621 commonName RHD weak D type 24 BGMUT_621 phenoCommon weak D type 24 BGMUT_621 protEffect L338P BGMUT_622 alias RHD 26A BGMUT_622 commonName RHD weak D type 26 BGMUT_622 phenoCommon weakD type 26 BGMUT_622 protEffect V9D BGMUT_623 alias RHD 399T BGMUT_623 commonName RHD weak D type 37 BGMUT_623 phenoCommon weak D type 37 BGMUT_623 protEffect K133N BGMUT_624 alias RHD 833A BGMUT_624 commonName RHD weak D type 38 BGMUT_624 phenoCommon weak D type 38 BGMUT_624 protEffect G278E BGMUT_625 alias RHD 1015A BGMUT_625 commonName RHD weak D type 39 BGMUT_625 phenoCommon weak D type 39 BGMUT_625 protEffect G339R BGMUT_626 alias RHD 520A BGMUT_626 commonName RHD weak D type33 (Taiwan1) BGMUT_626 phenoCommon weak D Taiwan 1 BGMUT_626 protEffect V174M BGMUT_627 alias RHD 809A BGMUT_627 commonName RHD weak D type Taiwan2 BGMUT_627 phenoCommon weak D Taiwan 2 BGMUT_627 protEffect V270M BGMUT_628 alias RHD 1136T BGMUT_628 commonName RHD DAU-0 BGMUT_628 phenoCommon DAU-0 (European) BGMUT_628 protEffect T379M BGMUT_629 alias RHD 579A, 1136T BGMUT_629 commonName RHD DAU-0. 1 BGMUT_629 phenoCommon DAU-0. 1(African) BGMUT_629 protEffect T379M BGMUT_63 commonName O32 BGMUT_63 phenoCommon O BGMUT_63 protEffect 88fs + truncation BGMUT_630 alias RHD 689T, 1136T BGMUT_630 commonName RHD DAU-1 BGMUT_630 phenoCommon DAU-1 (African) BGMUT_630 protEffect S230I; T379M BGMUT_631 alias RHD 209A, 998A, 1136T BGMUT_631 commonName RHD DAU-2 BGMUT_631 phenoCommon DAU-2 (African) BGMUT_631 protEffect R70Q; S333N; T379M BGMUT_632 alias RHD 835A, 1136T BGMUT_632 commonName RHD DAU-3 BGMUT_632 phenoCommon DAU-3 (African) BGMUT_632 protEffect V279M; T379M BGMUT_633 alias RHD 697A, 1136T BGMUT_633 commonName RHD DAU- 4 BGMUT_633 phenoCommon DAU-4 (African) BGMUT_633 protEffect E233K; T379M BGMUT_637 alias RHD 121T BGMUT_637 commonName RHD neg2 BGMUT_637 phenoCommon D negative BGMUT_637 protEffect Q41X BGMUT_639 alias RHD 600delG BGMUT_639 commonName RHD neg4 BGMUT_639 phenoCommon D negative BGMUT_639 protEffect 228X BGMUT_64 commonName O33 BGMUT_64 phenoCommon O BGMUT_64 protEffect 88fs + truncation BGMUT_645 alias RHD 47A BGMUT_645 commonName RHD neg(Cde)3 BGMUT_645 phenoCommon D negative (Cde) BGMUT_645 protEffect W16X BGMUT_646 alias RHD 635T BGMUT_646 commonName RHD neg(Cde)4 BGMUT_646 phenoCommon D negative (Cde) BGMUT_646 protEffect G212V BGMUT_647 alias RHD intron 8 1A BGMUT_647 commonName RHD neg(Cde)5 BGMUT_647 phenoCommon D negative (Cde) BGMUT_648 alias RHD 269A BGMUT_648 commonName RHD neg6 BGMUT_648 phenoCommon D negative BGMUT_648 protEffect W90X BGMUT_65 commonName O34 BGMUT_65 phenoCommon O BGMUT_65 protEffect 88fs + truncation BGMUT_650 alias RHD 906ins BGMUT_650 commonName RHD neg8 BGMUT_650 phenoCommon D negative BGMUT_650 protEffect fs BGMUT_651 alias RHD 933A BGMUT_651 commonName RHD neg9 BGMUT_651 phenoCommon D neg BGMUT_651 protEffect 311X BGMUT_652 alias RHD intron 2 1A BGMUT_652 commonName RHD neg10 BGMUT_652 phenoCommon D neg BGMUT_652 protEffect exon2 is absent BGMUT_653 alias RHD 554A BGMUT_653 commonName RHD neg11 BGMUT_653 phenoCommon D neg BGMUT_653 protEffect W185X BGMUT_657 alias RHD 1222C BGMUT_657 commonName RHD DEL BGMUT_657 phenoCommon D-el BGMUT_657 protEffect W408R BGMUT_658 alias RHD intron 3 1A BGMUT_658 commonName RHD DEL (Cde)1 BGMUT_658 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_658 protEffect none BGMUT_659 alias RHD 885T BGMUT_659 commonName RHD DEL (Cde)2 BGMUT_659 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_659 protEffect M295I BGMUT_66 alias Ovar1 BGMUT_66 commonName O35 BGMUT_66 phenoCommon O BGMUT_66 protEffect V36F R63H P74S 88fs + truncation BGMUT_660 alias RHD intron 9 1A; 1227A BGMUT_660 commonName RHD DEL (Cde)3 TP53_g.12487_12488del commonName del2 BGMUT_660 phenoCommon D-el (CDe); minimal expression of D antigen; D negative -like by serology. BGMUT_660 protEffect K409K BGMUT_661 alias RHD intron 5 38del CTCT BGMUT_661 commonName RHD DEL (Cde)4 BGMUT_661 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_661 protEffect none BGMUT_662 alias RHD 1252insT BGMUT_662 commonName RHD DEL (Cde)5 BGMUT_662 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_662 protEffect X418L BGMUT_663 alias RHD 1203A BGMUT_663 commonName RHD DEL (Cde)6 BGMUT_663 phenoCommon D-el (Cde); minimal expression of D antigen; D negative -like by serology. BGMUT_663 protEffect Y401X BGMUT_668 alias RHCE 500A BGMUT_668 commonName RHCE EI,Ew BGMUT_668 phenoCommon EI;Ew BGMUT_668 protEffect M167K BGMUT_67 alias Ovar2 BGMUT_67 commonName O36 BGMUT_67 phenoCommon O BGMUT_67 protEffect V36F R63H P74S 88fs + truncation BGMUT_671 alias RHcE 697G, 712G BGMUT_671 commonName RHCE EIII BGMUT_671 phenoCommon EIII BGMUT_671 protEffect Q233E; M238V BGMUT_673 alias RHCE 733G BGMUT_673 commonName RHCE VS BGMUT_673 phenoCommon VS BGMUT_673 protEffect L245V BGMUT_674 alias RHCE 106A BGMUT_674 commonName RHCE CX BGMUT_674 phenoCommon CX BGMUT_674 protEffect A36T BGMUT_675 alias RHcE 602C BGMUT_675 commonName RHCE EIV BGMUT_675 phenoCommon EIV BGMUT_675 protEffect R201T BGMUT_676 alias RHCE 461C BGMUT_676 commonName RHCE EV/EKH; also RHCE ceRT BGMUT_676 phenoCommon EV/EKH; also ceRT, expresses D epitope 6 BGMUT_676 protEffect R154T BGMUT_677 alias RHCE122G BGMUT_677 commonName RHCE CW BGMUT_677 phenoCommon CW BGMUT_677 protEffect Q41R BGMUT_678 alias RHce 286A BGMUT_678 commonName RHCE Rh-26 BGMUT_678 phenoCommon ce variant c+Rh:-26 BGMUT_678 protEffect G96S BGMUT_68 commonName O39 BGMUT_68 phenoCommon O BGMUT_68 protEffect P74S; 88fs + truncation BGMUT_680 alias RHce 48C, 712G, 733G, 787G, 800A, 916G BGMUT_680 commonName RHce ceAR BGMUT_680 phenoCommon ceAR BGMUT_680 protEffect W16C; M239V; L245V; R263G; M267K; I306V BGMUT_681 alias Rhce 48C, 667T BGMUT_681 commonName Rhce ceMO BGMUT_681 phenoCommon ceMO (hrS-neg; altered expression of e) BGMUT_681 protEffect W16C; V223F BGMUT_69 commonName O40 BGMUT_69 phenoCommon O BGMUT_69 protEffect V36F; R63H; 88fs + truncation BGMUT_691 alias RHCE 685-687del BGMUT_691 commonName RHCE Dc-ceBP BGMUT_691 phenoCommon Dc-ceBP BGMUT_691 protEffect R229del BGMUT_696 alias RHcE 350-358del BGMUT_696 commonName RHCE-cEMI BGMUT_696 phenoCommon cEMI (silent RHE) BGMUT_696 protEffect A120-S122del BGMUT_698 alias RHCE intron 4: 1T BGMUT_698 commonName RHCE null amorph 2 BGMUT_698 phenoCommon Rh null amorph BGMUT_699 alias RHce 80-84del BGMUT_699 commonName RHCE null amorph 3 BGMUT_699 phenoCommon Rh null amorph BGMUT_699 protEffect L31X BGMUT_7 commonName A105 BGMUT_7 phenoCommon A1 BGMUT_7 protEffect P156L BGMUT_70 alias O1-vB, tlse13 BGMUT_70 commonName O41 BGMUT_70 phenoCommon O BGMUT_70 protEffect 88fs + truncation BGMUT_702 alias RHAG 236A BGMUT_702 commonName RH mod (VL) BGMUT_702 phenoCommon Rh mod (VL) BGMUT_702 protEffect S79N BGMUT_703 alias RHAG 3T BGMUT_703 commonName RH mod (SM) BGMUT_703 phenoCommon Rh mod (SM) BGMUT_703 protEffect M1I BGMUT_704 alias RHAG 1183delA BGMUT_704 commonName RH mod (Japan) BGMUT_704 phenoCommon Rh mod (Japanese) BGMUT_704 protEffect N395fs BGMUT_705 alias RHAG 836A BGMUT_705 commonName RH null reg (YT) BGMUT_705 phenoCommon Rh null (YT) reg BGMUT_705 protEffect G279E BGMUT_706 alias RHAG 808A, 838A BGMUT_706 commonName RH null reg (HT) BGMUT_706 phenoCommon Rh null (HT) reg BGMUT_706 protEffect V270I; G280R BGMUT_707 commonName RH null reg (AC) BGMUT_707 phenoCommon Rh null (AC) reg BGMUT_707 protEffect Exon 7 skipped. BGMUT_709 commonName RH null reg (AL) BGMUT_709 phenoCommon Rh null (AL) reg BGMUT_709 protEffect protein not expressed BGMUT_71 alias O1-vB, tlse14 BGMUT_71 commonName O42 BGMUT_71 phenoCommon O BGMUT_71 protEffect 88fs + truncation BGMUT_710 alias RHAG intron 7 1A BGMUT_710 commonName RH null reg (TT) BGMUT_710 phenoCommon Rh null (TT) reg BGMUT_711 alias RHAG 1139T BGMUT_711 commonName RH null reg (WO) BGMUT_711 phenoCommon Rh null (WO) reg BGMUT_711 protEffect G380V BGMUT_712 commonName RhCe polypeptide; Rh30 BGMUT_712 phenoCommon RhCe BGMUT_712 protEffect W16C; L60I; N68S; P103S BGMUT_713 commonName RhCE polypeptide; Rh30 BGMUT_713 phenoCommon RhCE BGMUT_713 protEffect W16C; L60I; N68S; P103S; A226P BGMUT_714 alias RHcE 676C BGMUT_714 commonName RhcE polypeptide; Rh30 BGMUT_714 phenoCommon RhcE BGMUT_714 protEffect A226P BGMUT_72 alias Ov7.1 BGMUT_72 commonName O43 BGMUT_72 phenoCommon O BGMUT_72 protEffect 88fs + truncation BGMUT_724 alias XK intron 2 5A BGMUT_724 commonName XK (MD) BGMUT_724 phenoCommon McLeod syndrome BGMUT_724 protEffect none BGMUT_725 alias XK 268del BGMUT_725 commonName XK (L) BGMUT_725 phenoCommon McLeod syndrome BGMUT_725 protEffect Y90fs BGMUT_726 alias XK intron 1 1C BGMUT_726 commonName XK (non-CGD) BGMUT_726 phenoCommon McLeod syndrome BGMUT_726 protEffect no protein (on membrane) BGMUT_73 alias Ov7.2 BGMUT_73 commonName O44 BGMUT_73 phenoCommon O BGMUT_73 protEffect 88fs + truncation BGMUT_735 alias XK 686del BGMUT_735 commonName XK 1 BGMUT_735 phenoCommon McLeod syndrome BGMUT_735 protEffect 229fs + 264X BGMUT_736 alias XK 771del BGMUT_736 commonName XK 2 BGMUT_736 phenoCommon McLeod syndrome BGMUT_736 protEffect 257fs + 267X BGMUT_737 alias XK 856del BGMUT_737 commonName XK 3 BGMUT_737 phenoCommon McLeod syndrome BGMUT_737 protEffect 286fs + 301X BGMUT_738 alias XK 938del BGMUT_738 commonName XK 4 BGMUT_738 phenoCommon McLeod syndrome BGMUT_738 protEffect 313fs + 336X BGMUT_74 alias Ovar, tlse51 BGMUT_74 commonName O45 BGMUT_74 phenoCommon O BGMUT_74 protEffect 88fs + truncation BGMUT_740 alias XK 1013delT BGMUT_740 commonName XK (Japan 1) BGMUT_740 phenoCommon McLeod syndrome BGMUT_740 protEffect fs + 408X BGMUT_742 alias XK intron 1 1C BGMUT_742 commonName XK (New Mexico; Ohio) BGMUT_742 phenoCommon McLeod syndrome BGMUT_743 alias XK 107A BGMUT_743 commonName XK 6 BGMUT_743 phenoCommon McLeod syndrome BGMUT_743 protEffect W36X BGMUT_744 alias XK 397T BGMUT_744 commonName XK 7 BGMUT_744 phenoCommon McLeod syndrome BGMUT_744 protEffect R133X BGMUT_745 alias XK 155X BGMUT_745 commonName XK 8 BGMUT_745 phenoCommon McLeod syndrome BGMUT_745 protEffect Q155X BGMUT_746 alias XK 236X BGMUT_746 commonName XK 9 BGMUT_746 phenoCommon McLeod syndrome BGMUT_746 protEffect W236X BGMUT_747 alias XK 880C BGMUT_747 commonName XK 10 BGMUT_747 phenoCommon McLeod syndrome BGMUT_747 protEffect C294R BGMUT_748 alias XK 895T BGMUT_748 commonName XK (Switzerland 1) BGMUT_748 phenoCommon McLeod syndrome BGMUT_748 protEffect Q299X BGMUT_749 alias XK 664G BGMUT_749 commonName XK (NYC) BGMUT_749 phenoCommon McLeod syndrome BGMUT_749 protEffect R222G BGMUT_75 alias Ovar, tlse52 BGMUT_75 commonName O46 BGMUT_75 phenoCommon O BGMUT_75 protEffect 88fs + truncation BGMUT_750 alias XK 11 BGMUT_750 commonName XK 11 BGMUT_750 phenoCommon McLeod syndrome BGMUT_750 protEffect W314X BGMUT_751 alias XK 979A BGMUT_751 commonName XK (Switzerland 2) BGMUT_751 phenoCommon McLeod BGMUT_751 protEffect E327K BGMUT_752 alias XK 39del BGMUT_752 commonName XK (Brazil) BGMUT_752 phenoCommon McLeod syndrome BGMUT_752 protEffect no protein BGMUT_754 alias Sc 169A BGMUT_754 commonName Sc -2 BGMUT_754 phenoCommon Sc: -1, 2 BGMUT_754 protEffect G57R BGMUT_755 commonName Sc null 1 BGMUT_755 phenoCommon Sc: -1, -2 BGMUT_755 protEffect none; H26Y; 113fs BGMUT_756 alias Rd 178G BGMUT_756 commonName Sc4 BGMUT_756 phenoCommon Rd + BGMUT_756 protEffect P60A BGMUT_757 alias Star; Sc 139A BGMUT_757 commonName Sc -5 BGMUT_757 phenoCommon Sc: 1, -2, 3 BGMUT_757 protEffect E47K BGMUT_759 alias MER 383ins BGMUT_759 commonName MER2 1 BGMUT_759 phenoCommon Mer2 negative with renal failure BGMUT_759 protEffect K127fs + 140X BGMUT_76 alias Ovar, tlse20 BGMUT_76 commonName O47 BGMUT_76 phenoCommon O BGMUT_76 protEffect 88fs + truncation BGMUT_760 alias MER2 533A BGMUT_760 commonName MER2 2 BGMUT_760 phenoCommon Mer2 negative and healthy BGMUT_760 protEffect R178H BGMUT_762 alias O01bantu BGMUT_762 commonName O54 BGMUT_762 phenoCommon O (associated with bantu phenotype) BGMUT_762 protEffect 88fs + truncation BGMUT_764 commonName A bantu 01 BGMUT_764 phenoCommon A bantu BGMUT_764 protEffect exon 4 del; P156L; 354fs + 21 aa BGMUT_765 alias FUT1 293T BGMUT_765 commonName China BGMUT_765 phenoCommon para-Bombay BGMUT_765 protEffect T98M BGMUT_766 commonName A304 BGMUT_766 phenoCommon A3 BGMUT_766 protEffect P156L; R180H; 354fs + 21aa BGMUT_77 alias O2-2 BGMUT_77 commonName O48 BGMUT_77 phenoCommon O BGMUT_77 protEffect P74S; R176G; R217C; G229D; G268R; BGMUT_771 commonName A208 BGMUT_771 phenoCommon A2 BGMUT_771 protEffect P156L; R180P BGMUT_772 commonName FUT1 682G BGMUT_772 phenoCommon para-Bombay BGMUT_772 protEffect M228V BGMUT_773 alias RHD 636T BGMUT_773 commonName RHD DUC-1 BGMUT_773 phenoCommon DUC-1; CcDee BGMUT_773 protEffect G212G BGMUT_774 alias RHD 667D, 697C, 1136T BGMUT_774 commonName RHD DAU-5 BGMUT_774 phenoCommon DAU-5; ccDee BGMUT_774 protEffect F223V; E233Q; T379M BGMUT_775 alias RHD 700T BGMUT_775 commonName RHD DQC or DYU BGMUT_775 phenoCommon DQC; ccDee BGMUT_775 protEffect R234W BGMUT_776 alias RHD 733C BGMUT_776 commonName RHD DUC-2 BGMUT_776 phenoCommon DUC-2; ccDEe BGMUT_776 protEffect V245L BGMUT_777 alias RH53; RHCE 365T BGMUT_777 commonName RHCE JAHK; also RHCE ceSL 1 BGMUT_777 phenoCommon JAHK antigen; associated with rG (d(C)(E)) haplotype;RHCE ceSL does not express JAHK, atypical serology BGMUT_777 protEffect S122L BGMUT_778 alias Avar BGMUT_778 commonName Aw10 BGMUT_778 phenoCommon Aw BGMUT_778 protEffect D262N BGMUT_779 alias RHD 998A, 1136T BGMUT_779 commonName RHD DAU-6 BGMUT_779 phenoCommon DAU (similar to DAU-2) BGMUT_779 protEffect S333N; T379M BGMUT_78 alias O2-3 BGMUT_78 commonName O49 BGMUT_78 phenoCommon O BGMUT_78 protEffect P74S; R176G; G229D; G268R; BGMUT_781 alias RHD 667G, 674T BGMUT_781 commonName RHD DTO BGMUT_781 phenoCommon weakD (similar to weak D type4 + RHD pseudo) BGMUT_781 protEffect F223V; S225F BGMUT_782 alias RHD 1226T BGMUT_782 commonName RHD weak D type 42 BGMUT_782 phenoCommon weak D (similar to weak D type 22) BGMUT_782 protEffect K409M BGMUT_783 alias 52G; 809G BGMUT_783 commonName RHD weak D type 1.1 BGMUT_783 phenoCommon very weak D; mistyped as D- or weak D type1 BGMUT_783 protEffect L18V; V270G BGMUT_784 alias 17T BGMUT_784 commonName RHD weak D type 31 BGMUT_784 phenoCommon very weak D BGMUT_784 protEffect P6L BGMUT_785 alias 1121A BGMUT_785 commonName RHD weak D type 32 BGMUT_785 phenoCommon very weak D BGMUT_785 protEffect I134N BGMUT_786 commonName Ael06 BGMUT_786 phenoCommon A weak BGMUT_786 protEffect M142T, P156L BGMUT_79 alias O2-4 BGMUT_79 commonName O50 BGMUT_79 phenoCommon O BGMUT_79 protEffect P74S; T163M; R176G; G268R; BGMUT_790 commonName C1GALT1C1 202T, 393A BGMUT_790 phenoCommon Tn syndrome BGMUT_790 protEffect R68X BGMUT_791 commonName C1GALT1C1 454A BGMUT_791 phenoCommon Tn syndrome BGMUT_791 protEffect E152K BGMUT_792 commonName C1GALT1C1 393A BGMUT_792 phenoCommon Encoded protein retains C1GALT1 chaperone activity leading to the absence of Tn syndrome BGMUT_792 protEffect D131E BGMUT_794 commonName B(A)04 BGMUT_794 phenoCommon Aweak B BGMUT_794 protEffect R176G; M214V; G235S; L266M; G268A; BGMUT_795 commonName B(A)05 BGMUT_795 phenoCommon Aweak B BGMUT_795 protEffect R176G; M214T; G235S; L266M; G268A; BGMUT_797 commonName Ax09 BGMUT_797 phenoCommon Ax BGMUT_797 protEffect P156L; W181C BGMUT_798 commonName A4GALT -550insC; -160G; 987A; 1697A BGMUT_798 phenoCommon P1; P2 BGMUT_798 protEffect none BGMUT_799 commonName A4GALT 109G; 987A BGMUT_799 phenoCommon P1 (observed so far) BGMUT_799 protEffect M37V BGMUT_8 commonName A106 BGMUT_8 phenoCommon A1 BGMUT_8 protEffect none; P156L BGMUT_80 alias O4 BGMUT_80 commonName O51 BGMUT_80 phenoCommon O BGMUT_80 protEffect 29fs BGMUT_800 commonName A4GALT 109G; 987A; 1697A BGMUT_800 phenoCommon P1 (observed so far) BGMUT_800 protEffect M37V BGMUT_801 commonName FUT2 357T, 716A BGMUT_801 phenoCommon Secretor BGMUT_801 protEffect R239Q BGMUT_802 commonName FUT1 328A BGMUT_802 phenoCommon para-Bombay BGMUT_802 protEffect A110T BGMUT_803 commonName FUT1 586T BGMUT_803 phenoCommon para-Bombay BGMUT_803 protEffect 196 Q>X BGMUT_805 commonName FUT1 35T BGMUT_805 phenoCommon none BGMUT_805 protEffect A12V BGMUT_806 alias Sc 54T, 76T, 103A BGMUT_806 commonName Sc -7 (SCAN 54T,76T,103A) BGMUT_806 phenoCommon Sc: 1,-2,3 BGMUT_806 protEffect H26Y; G35S BGMUT_807 commonName Sc null 2 BGMUT_807 phenoCommon Sc: -1,-2,-3 BGMUT_807 protEffect R332X BGMUT_808 alias Sc 242A BGMUT_808 commonName Sc-6 (SCER 242A) BGMUT_808 phenoCommon SC:1,-2,-3 BGMUT_808 protEffect R81Q BGMUT_809 commonName SC null 2A BGMUT_809 phenoCommon Sc: -1,-2,-3 BGMUT_809 protEffect R332X BGMUT_81 alias O5 BGMUT_81 commonName O52 BGMUT_81 phenoCommon O BGMUT_81 protEffect Q108X BGMUT_810 commonName Aw11 BGMUT_810 phenoCommon Aw BGMUT_810 protEffect V175M; R241W BGMUT_812 alias FUT2 357T, 685A BGMUT_812 commonName Se 357,685 BGMUT_812 phenoCommon secretor BGMUT_812 protEffect V229M BGMUT_813 alias FUT2 400A BGMUT_813 commonName Se 400 BGMUT_813 phenoCommon secretor BGMUT_813 protEffect V134I BGMUT_815 alias RHce 48C BGMUT_815 commonName Rhce BGMUT_815 phenoCommon Rhce e variant BGMUT_815 protEffect W16C BGMUT_816 alias O.02.16.1 BGMUT_816 commonName O55 BGMUT_816 protEffect 88fs BGMUT_817 commonName Bw11 BGMUT_817 phenoCommon Bw BGMUT_817 protEffect R176G; L232P; G235S; L266M; G268A BGMUT_818 commonName Ax10 BGMUT_818 phenoCommon Ax BGMUT_818 protEffect P156L; V277M; R337G BGMUT_819 alias O1 variant BGMUT_819 commonName O56 BGMUT_819 phenoCommon O BGMUT_819 protEffect 88fs+truncation BGMUT_82 alias O6 BGMUT_82 commonName O53 BGMUT_82 phenoCommon O BGMUT_82 protEffect W181X BGMUT_820 alias Avar (S#230); A207 (designated by Yip et al.) BGMUT_820 commonName A209 BGMUT_820 phenoCommon A2 BGMUT_820 protEffect P156L; R176H; fs + elongation BGMUT_821 alias Bvar (S#52) BGMUT_821 commonName B108 BGMUT_821 protEffect R176G; G235S; L266M; G268A; A298S BGMUT_822 alias Bvar (S#108) BGMUT_822 commonName B109 BGMUT_822 protEffect R176G; G235S; L266M; G268A BGMUT_823 alias Bvar (S#133,#216) BGMUT_823 commonName B110 (same as Bw14) BGMUT_823 phenoCommon Bw BGMUT_823 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_824 alias Bvar (S#192) BGMUT_824 commonName B111 BGMUT_824 protEffect R178G; G235S; L266M; G268A BGMUT_825 commonName Aw12 BGMUT_825 phenoCommon Aw BGMUT_825 protEffect P156L; M186V BGMUT_826 commonName Bw12 BGMUT_826 phenoCommon Bw BGMUT_826 protEffect P93L; R176G; G235S; L266M; G268A BGMUT_827 alias O.01.11.1 BGMUT_827 commonName O57 BGMUT_827 phenoCommon O BGMUT_827 protEffect 88fs BGMUT_828 commonName Aw13 BGMUT_828 phenoCommon Aw BGMUT_828 protEffect initiator Met codon is disrupted; amino terminally truncated protein BGMUT_829 alias a common haplotype in 5'region BGMUT_829 commonName A4GALT -773G, -770T, -638C, 550insC, -212G, -164C, -160G BGMUT_829 phenoCommon P1, P2 BGMUT_829 protEffect none BGMUT_83 commonName A301 BGMUT_83 phenoCommon A3 BGMUT_83 protEffect D291N BGMUT_832 alias RHD DFV BGMUT_832 commonName RHD 223V BGMUT_832 phenoCommon weak D type 4 BGMUT_832 protEffect F223V BGMUT_833 alias RHD 410T,455C, 602G, 667G, 819A BGMUT_833 commonName RHD III type 6 BGMUT_833 phenoCommon DIII type 6 BGMUT_833 protEffect A137A; N152T; T201R; F223V; A273A BGMUT_835 alias RHD 602G, 667G, 697C, 957A,1025C BGMUT_835 commonName RHD DARE BGMUT_835 phenoCommon related to weak D type 4 BGMUT_835 protEffect T201R; F223V; E233Q; V319V; I342T BGMUT_836 alias RHCE 48C, 105T, 365T BGMUT_836 commonName RHCE ceSL 2 BGMUT_836 phenoCommon ceSL;atypical serology: D antigen expression not associated with D-specific amino acids BGMUT_836 protEffect W16C, S122L BGMUT_837 alias hybrid A102 X O02 BGMUT_837 commonName Ael07 BGMUT_837 phenoCommon Ael BGMUT_837 protEffect P156L; V277M BGMUT_838 alias O217 (designated by authors) BGMUT_838 commonName O58 BGMUT_838 phenoCommon O BGMUT_838 protEffect 88fs + truncation BGMUT_839 alias O103.1 (designated by authors) BGMUT_839 commonName O59 BGMUT_839 phenoCommon O BGMUT_839 protEffect 88fs + truncation BGMUT_84 commonName A302 BGMUT_84 phenoCommon A3 BGMUT_84 protEffect V277M; 354fs BGMUT_840 commonName B305 BGMUT_840 phenoCommon B3 BGMUT_840 protEffect M142T, R176G; G235S; L266M; G268A BGMUT_841 alias GYPC-9 BGMUT_841 commonName GEIS BGMUT_841 phenoCommon GEIS BGMUT_841 protEffect T32N BGMUT_842 alias B (var) BGMUT_842 commonName B306 BGMUT_842 phenoCommon A1B3 in A101/Bvar or A102/Bvar heterozygotes or B in Bvar/O01 heterozygotes BGMUT_842 protEffect R176G; D183N; G235S; L266M; G268A BGMUT_845 alias DO 378T; 624C; 793G; 898G BGMUT_845 commonName DOB WL BGMUT_845 phenoCommon DOb BGMUT_845 protEffect N265D; L300V BGMUT_847 commonName Fut1 661T BGMUT_847 phenoCommon Para-Bombay BGMUT_847 protEffect R221C BGMUT_848 alias RHcE 48C, 538C BGMUT_848 commonName RHce ceRA BGMUT_848 phenoCommon very weak RH5 antigen BGMUT_848 protEffect W16C; G180R BGMUT_85 commonName A303 BGMUT_85 phenoCommon A3 BGMUT_85 protEffect L280F BGMUT_851 alias 1868A; KALT BGMUT_851 commonName KEL29 BGMUT_851 phenoCommon KALT BGMUT_851 protEffect R623K BGMUT_852 alias KEL 913A; KTIM BGMUT_852 commonName KEL30 BGMUT_852 phenoCommon KTIM BGMUT_852 protEffect D305N BGMUT_853 alias RHD 611C BGMUT_853 commonName RHD weak D type 19 BGMUT_853 phenoCommon normal D BGMUT_853 protEffect I204T BGMUT_854 alias RHD 1250C BGMUT_854 commonName RHD weak D type 20 BGMUT_854 phenoCommon normal D BGMUT_854 protEffect F417S BGMUT_855 alias RHce 48C, 697G, 733G; Crawford; RH43 BGMUT_855 commonName RHce ceCF BGMUT_855 phenoCommon ceCF; Crawford antigen (RH43) and VS (RH20) are expressed BGMUT_855 protEffect W16C; Q233E; L245V BGMUT_859 commonName cis-AB05 BGMUT_859 phenoCommon cisAB BGMUT_859 protEffect R176G; G235S; L266M BGMUT_86 commonName Ax01 BGMUT_86 phenoCommon Ax BGMUT_86 protEffect F216I BGMUT_860 alias RHD 3A BGMUT_860 commonName RHD Del (Cde)7 BGMUT_860 phenoCommon Del BGMUT_860 protEffect loss initiation codon BGMUT_861 alias RHD 28T BGMUT_861 commonName RHD Del (Cde)8 BGMUT_861 phenoCommon Del BGMUT_861 protEffect R10W BGMUT_862 alias RHD 53C BGMUT_862 commonName RHD Del(Cde)9 BGMUT_862 phenoCommon Del BGMUT_862 protEffect L18P BGMUT_863 alias RHD 251C BGMUT_863 commonName RHD Del(Cde)10 BGMUT_863 phenoCommon Del BGMUT_863 protEffect L84P BGMUT_864 commonName IGnT C 243A BGMUT_864 phenoCommon adult i in Taiwanese; no congenital cataract BGMUT_864 protEffect N81K BGMUT_865 commonName FUT1 538T; 1089G BGMUT_865 phenoCommon para-Bombay BGMUT_865 protEffect Q180X; A363A BGMUT_866 commonName FUT1 689C BGMUT_866 phenoCommon para-Bombay BGMUT_866 protEffect Q230P BGMUT_867 alias KEL 1899G BGMUT_867 commonName KEL7 - 1 BGMUT_867 phenoCommon Jsb BGMUT_867 protEffect L633L BGMUT_868 alias RHD DVL-1 BGMUT_868 commonName RHD 684-686del BGMUT_868 phenoCommon partial D BGMUT_868 protEffect R229del BGMUT_869 alias RHD DVL-2 BGMUT_869 commonName RHD 705-707del BGMUT_869 phenoCommon partial D BGMUT_869 protEffect K235del BGMUT_87 commonName Ax02 BGMUT_87 phenoCommon Ax BGMUT_87 protEffect F216I; V277M BGMUT_870 alias RHce ceBP BGMUT_870 commonName RHce 685-687del BGMUT_870 phenoCommon altered e and f antigen expression BGMUT_870 protEffect R229del BGMUT_871 commonName FUT1 917T BGMUT_871 phenoCommon most likely para-Bombay BGMUT_871 protEffect T306I BGMUT_872 commonName FUT1 35T, 269T BGMUT_872 phenoCommon para-Bombay BGMUT_872 protEffect A12V; G90V BGMUT_873 commonName FUT2 278T; 357T BGMUT_873 phenoCommon para-Bombay BGMUT_873 protEffect A93V; N119N BGMUT_874 commonName FUT1 422A BGMUT_874 phenoCommon Bombay BGMUT_874 protEffect W141X BGMUT_875 commonName Bel05 BGMUT_875 phenoCommon Bel BGMUT_875 protEffect R176G; G235S; L266M; G268A; V318M BGMUT_876 commonName B(A)06 BGMUT_876 phenoCommon B(A) classified as AwB BGMUT_876 protEffect R176G;G235S;L266M BGMUT_879 commonName SEMA7A 620A BGMUT_879 phenoCommon variant JMH (variant C) BGMUT_879 protEffect R207Q BGMUT_88 commonName Ax03 BGMUT_88 phenoCommon Ax BGMUT_88 protEffect F216I; V277M BGMUT_880 commonName SEMA7A 1379A BGMUT_880 phenoCommon variant JMH (variant U) BGMUT_880 protEffect R460H BGMUT_881 commonName SEMA7A 1381T BGMUT_881 phenoCommon variant JMH (variantP) BGMUT_881 protEffect R461C BGMUT_883 commonName SEMA7A 619T, 1545G BGMUT_883 phenoCommon variant JMH (variant J) BGMUT_883 protEffect R207W; Q515Q BGMUT_884 commonName CR1 4619G BGMUT_884 protEffect N1540S BGMUT_885 commonName SEMA7A 507T BGMUT_885 phenoCommon JMH-negative BGMUT_885 protEffect Y169Y BGMUT_886 commonName SEMA7A 1059T BGMUT_886 phenoCommon JMH-negative BGMUT_886 protEffect G353G BGMUT_887 commonName SEMA7A 1239T BGMUT_887 phenoCommon JMH-negative BGMUT_887 protEffect V413V BGMUT_888 alias RHD 594T;602G BGMUT_888 commonName RHD weak D type 51 BGMUT_888 phenoCommon weak D BGMUT_888 protEffect K198N; T201R BGMUT_889 alias RHD 92C BGMUT_889 commonName RHD weak D type 52 BGMUT_889 phenoCommon weakD BGMUT_889 protEffect F31S BGMUT_89 commonName Ax04 BGMUT_89 phenoCommon Ax BGMUT_89 protEffect F216I BGMUT_890 alias RHD 740G BGMUT_890 commonName RHD weak D type 53 BGMUT_890 phenoCommon weak D BGMUT_890 protEffect V247G BGMUT_891 alias RHD 667G;676C;697C;712A;733C;744T;787A;800T (D1-4 CE5 D6-10) BGMUT_891 commonName RHD V type 2 BGMUT_891 phenoCommon weakD BGMUT_891 protEffect F223V; A226P; E233Q; V238M; V245L; S248S; G263R; K267M BGMUT_892 alias RHD 667G;676C;697C;712A;733C;744T; BGMUT_892 commonName RHD V type 8 BGMUT_892 phenoCommon weak D BGMUT_892 protEffect F223V; A226P; E233Q; V238M; V245L; S248S BGMUT_894 commonName LU 361T BGMUT_894 phenoCommon Lua-b- BGMUT_894 protEffect R121X BGMUT_895 commonName LU 691T BGMUT_895 phenoCommon Lu a-b- BGMUT_895 protEffect R231X BGMUT_896 commonName RHD 325delA BGMUT_896 phenoCommon D neg. BGMUT_896 protEffect T108fs + 118X BGMUT_898 commonName RHce 48C;733G BGMUT_898 protEffect W16C; L245V BGMUT_899 alias KEL intron8 1T BGMUT_899 commonName Ko (Germany 1) BGMUT_899 phenoCommon Kell null BGMUT_899 protEffect protein altered BGMUT_9 alias A201 exonic BGMUT_9 commonName A201 BGMUT_9 phenoCommon A2 BGMUT_9 protEffect P156L; 354fs + 21aa BGMUT_900 alias KEL intron8 1A BGMUT_900 commonName Ko (Austria 1) BGMUT_900 phenoCommon Kell null or 1;-2 BGMUT_900 protEffect protein altered BGMUT_901 alias KEL 948A BGMUT_901 commonName Ko (Germany 2) BGMUT_901 phenoCommon Kell null BGMUT_901 protEffect W316X BGMUT_902 alias KEL 1216T BGMUT_902 commonName Ko (Austria 2) BGMUT_902 phenoCommon Kell 1;-2 BGMUT_902 protEffect R406X BGMUT_903 alias KEL 1477T BGMUT_903 commonName Ko (Germany 3) BGMUT_903 phenoCommon Kell null BGMUT_903 protEffect Q493X BGMUT_904 alias KEL 1546T BGMUT_904 commonName Ko (Germany 4) BGMUT_904 phenoCommon Kell null BGMUT_904 protEffect R516X BGMUT_905 alias KEL 1678G BGMUT_905 commonName Ko (Austria 3) BGMUT_905 phenoCommon Kell 1;-2 BGMUT_905 protEffect P560A BGMUT_906 alias KEL 2023T BGMUT_906 commonName Ko (Austria 4) BGMUT_906 phenoCommon Kell 1;-2 BGMUT_906 protEffect R675X BGMUT_907 alias KEL 986C BGMUT_907 commonName Ko (US 1) BGMUT_907 phenoCommon Kell 1;2mod BGMUT_907 protEffect L329P BGMUT_908 alias KEL 306A,1298T BGMUT_908 commonName Ko (Austria 5) BGMUT_908 phenoCommon Kell 1;2el BGMUT_908 protEffect D102E; P433L BGMUT_909 alias KEL 1763G BGMUT_909 commonName Ko (Austria 6) BGMUT_909 phenoCommon Kell 1;2el BGMUT_909 protEffect Y588C BGMUT_910 alias KEL 841T BGMUT_910 commonName Ko (Austria 7) BGMUT_910 phenoCommon Kell 1;2 weak BGMUT_910 protEffect R281W BGMUT_911 commonName Aw14 BGMUT_911 phenoCommon Aweak BGMUT_911 protEffect P156L; H233Q BGMUT_912 commonName Bw18 BGMUT_912 phenoCommon Bw BGMUT_912 protEffect R176G; G235S; L266M; G268T BGMUT_913 commonName Bw15 BGMUT_913 phenoCommon Bw BGMUT_913 protEffect R176G; M189V; G235S; L266M; G268A BGMUT_914 commonName Bw16 BGMUT_914 phenoCommon Bw BGMUT_914 protEffect R176G; I192T; G235S; L266M; G268A BGMUT_915 commonName Bw17 BGMUT_915 phenoCommon Bw BGMUT_915 protEffect R176G; G235S; D262N; L266M; G268A BGMUT_916 commonName Bw19 BGMUT_916 phenoCommon Bw BGMUT_916 protEffect R176G; F216I; G235S; L266M; G268A BGMUT_917 commonName Bw14 ( same as B110) BGMUT_917 phenoCommon Bw BGMUT_917 protEffect V175M; R176G; G235S; L266M; G268A BGMUT_919 alias RHD 494G BGMUT_919 commonName RHD weak D 494G BGMUT_919 phenoCommon putative weak or partial D BGMUT_919 protEffect Y165C BGMUT_92 commonName Ax07 BGMUT_92 phenoCommon Ax BGMUT_92 protEffect W332X BGMUT_920 alias RHD 1148C BGMUT_920 commonName RHD weak D 1148C BGMUT_920 phenoCommon putative weak or partial D BGMUT_920 protEffect L383P BGMUT_922 alias RHD 1219-1224del BGMUT_922 commonName RHD weak D 1219-1224del BGMUT_922 phenoCommon putative weak or partial D BGMUT_922 protEffect F407-W408del BGMUT_924 alias RHD 640T BGMUT_924 commonName RHD weak D 640T BGMUT_924 phenoCommon probably weak D BGMUT_924 protEffect L214F BGMUT_925 alias RHD 677A BGMUT_925 commonName RHD weak D 677A BGMUT_925 phenoCommon putative weak or partial D BGMUT_925 protEffect A266D BGMUT_926 alias RHD 1006C BGMUT_926 commonName RHD weak D 1006C BGMUT_926 phenoCommon putative weak or partial D BGMUT_926 protEffect G366R BGMUT_927 alias RHD 65A BGMUT_927 commonName RHD weak D 65A BGMUT_927 phenoCommon putative weak or partial D BGMUT_927 protEffect A22E BGMUT_928 alias RHD 284G BGMUT_928 commonName RHD weak D 284G BGMUT_928 phenoCommon putative weak or partial D BGMUT_928 protEffect D95G BGMUT_929 alias RHD 330GTdel BGMUT_929 commonName RHD weak D 330GTdel BGMUT_929 phenoCommon D null BGMUT_929 protEffect fs BGMUT_93 commonName Ax08 BGMUT_93 phenoCommon Ax BGMUT_93 protEffect F216I; V277M BGMUT_930 alias RHD 667G,697C,1136T,1177C BGMUT_930 commonName RHD weak D 667G,697C,1136T,1177C BGMUT_930 phenoCommon partial D BGMUT_930 protEffect F223V, E233Q, T379M, W393R BGMUT_932 commonName A305 BGMUT_932 phenoCommon A3 BGMUT_932 protEffect V274M BGMUT_933 commonName A306 BGMUT_933 phenoCommon A3 BGMUT_933 protEffect P156L; V274M BGMUT_934 commonName A307 BGMUT_934 phenoCommon A3 BGMUT_934 protEffect P156L; R249W BGMUT_935 commonName Ax11 BGMUT_935 phenoCommon Ax BGMUT_935 protEffect P156L; A287V BGMUT_936 alias SLC4A1 2191C BGMUT_936 commonName SLC4A1 -Hemel BGMUT_936 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_936 protEffect S731P BGMUT_937 alias SLC4A1 166G, 1249T, 2201G BGMUT_937 commonName SLC4A1 - Hurstpierpoint 2 BGMUT_937 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_937 protEffect K56E; L417L; H734R BGMUT_938 alias SCL4A1 2113T BGMUT_938 commonName SLC4A1 - Horam BGMUT_938 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_938 protEffect D705Y BGMUT_939 alias SLC4A1 2201G BGMUT_939 commonName SLC4A1 - Hurstpierpoint 1 BGMUT_939 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_939 protEffect H734R BGMUT_94 commonName Aw01 BGMUT_94 phenoCommon Aw BGMUT_94 protEffect T136M; P156L; 354fs BGMUT_940 alias SLC4A1 2060C BGMUT_940 commonName SLC4A1 - Blackburn BGMUT_940 phenoCommon hemolytic anemia; cation-leaky red cells BGMUT_940 protEffect L687P BGMUT_941 commonName O60 (designated by authors O4 or O41) BGMUT_941 phenoCommon O BGMUT_941 protEffect 29fs; 55x BGMUT_942 commonName DO 185C,378T,624C,793G BGMUT_942 phenoCommon Do(a-b-), Hy-, Gy(a-) BGMUT_942 protEffect F62S; Y126Y; L208L; N265D BGMUT_943 alias DAF 466A BGMUT_943 commonName DAF CROM (CROM14) BGMUT_943 phenoCommon CROV- BGMUT_943 protEffect E156K BGMUT_944 alias DAF 740G BGMUT_944 commonName DAF CRAM (CROM15) BGMUT_944 phenoCommon CRAM- BGMUT_944 protEffect Q247R BGMUT_945 commonName FUT2 210G, 357T BGMUT_945 phenoCommon secretor BGMUT_945 protEffect T70T; N119N BGMUT_946 commonName FUT2 357T, 380A, 385T BGMUT_946 phenoCommon weak secretor (deduced) BGMUT_946 protEffect N119N; R127H; I129F BGMUT_947 commonName FUT2 853A BGMUT_947 phenoCommon weaker secretor (deduced reduced enzyme activity) BGMUT_947 protEffect A285T BGMUT_948 commonName FUT2 357T, 855C BGMUT_948 phenoCommon secretor BGMUT_948 protEffect N119N; A285A BGMUT_949 commonName FUT2 171G;216T;428A;572A;739A;960G;1009G;1011C BGMUT_949 phenoCommon non-secretor BGMUT_949 protEffect A57A; Y72Y; W143X; R191Q; G247S; T320T; BGMUT_95 commonName Aw02 BGMUT_95 phenoCommon Aw BGMUT_95 protEffect G117A; P156L; 354fs BGMUT_950 commonName FUT2 357T, 748insGTG BGMUT_950 phenoCommon not known BGMUT_950 protEffect 249-250insV BGMUT_951 alias CD44 488A BGMUT_951 commonName IN 4 BGMUT_951 phenoCommon IN:-4 BGMUT_951 protEffect T163K BGMUT_953 alias RHD 505C, 509G, 514T, 560A, 577A; 594T, 602G (RHD1-3 CE4 D5-10) BGMUT_953 commonName RHD DFR-2 BGMUT_953 phenoCommon DFR BGMUT_953 protEffect M169L;M170R;I172F;S182T;E193K;K198N;T201R BGMUT_959 alias RHD DCS-1 BGMUT_959 commonName RHD 667G; 676C BGMUT_959 phenoCommon ccDEe BGMUT_959 protEffect F223V; A226P BGMUT_96 commonName Aw03 BGMUT_96 phenoCommon Aw BGMUT_96 protEffect R68T; P156L; 354fs BGMUT_960 alias RHD DCS-2 BGMUT_960 commonName RHD 676C BGMUT_960 phenoCommon ccDEe BGMUT_960 protEffect A226P BGMUT_961 commonName Bw20 BGMUT_961 phenoCommon O; no or very weak anti-B in serum BGMUT_961 protEffect R176G; G235S; L266M; G268A; 272fs +38 aa BGMUT_962 commonName A210 BGMUT_962 phenoCommon A2 BGMUT_962 protEffect W90R;P156L BGMUT_963 commonName A211 BGMUT_963 phenoCommon A2 BGMUT_963 protEffect P89L;P156L BGMUT_964 commonName B307 BGMUT_964 phenoCommon B3 BGMUT_964 protEffect A137V; R176G; G235S; L266M; G268A BGMUT_97 commonName Aw04 BGMUT_97 phenoCommon Aw BGMUT_97 protEffect R241W BGMUT_98 commonName Aw05 BGMUT_98 phenoCommon Aw BGMUT_98 protEffect E322G BGMUT_99 commonName Aw06 BGMUT_99 phenoCommon Aw BGMUT_99 protEffect R168G BGMUT_101 longName AF134412.1(ABO):c.[220C>T; 297A>G; 488C>T; 526C>G; 802G>A; 98+127_98+128insA; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 98+539C>A; 155+1095delC; 155+1096delA; 203+375C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+91T>C; 239+103_239+104insCCC; 239+266G>A; 373+42G>T; 373+163T>C; 373+179C>T; 373+271A>G; 373+280C>T; 373+446A>G; 373+628A>G; 373+786A>G; 373+891A>G; 373+901G>A; 373+950A>G] BGMUT_27 longName AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 155+1357C>T; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_33 longName AF134412.1(ABO):c.[98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_41 longName AF134412.1(ABO):c.[155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_63 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 538C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_64 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 498C>T; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_65 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 351G>A; 646T>A; 681G>A; 771C>T; 829G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] TP53_g.17910_17939del commonName del30 TP53_g.13806G>C commonName G>C TP53_g.13806G>C protEffect p.Ala276Pro TP53_g.12637_12639del commonName del3 TP53_g.13409G>T commonName G>T TP53_g.13409G>T protEffect p.Glu258STOP BGMUT_68 longName AF134412.1(ABO):c.[220C>T; 261delG #insertion in reference#; 297A>G; 681G>A; 771C>T; 829G>A; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_69 longName AF134412.1(ABO):c.[106G>T; 188G>A; 189C>T; 261delG #insertion in reference#; 297A>G; 646T>A; 681G>A; 829G>A; 98+362C>T; 98+369C>G; 98+396T>C; 98+437C>T; 155+205C>T; 155+479C>T; 155+525A>T; 155+969T>C; 155+1063A>G; 155+1244C>T; 155+1278T>C; 203+28G>C; 203+73_203+74insGTGTGGACAGAAG; 203+114C>T; 203+163G>A; 203+346T>G; 203+738T>G; 203+1176C>T; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623_203+1624insC; 239+103_239+104insCCC; 239+306C>T; 239+450C>A; 239+527G>A; 373+89T>A; 373+163T>C; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_71 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 526C>G; 657C>T; 703G>A; 796C>A; 803G>C; 930G>A; 373+89T>A; 373+163T>C; 373+180-187dupGTGGGCTC; 373+188G>A; 373+226C>T; 373+235C>G; 373+446A>G; 373+493T>C; 373+717G>A; 373+786A>G; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_762 longName AF134412.1(ABO):c.[261delG #insertion in reference#; 297A>G; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1170C>T; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T; 203+738T>G; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623C>CC; 239+496G>A; 373+160delT; 373+163T>C; 373+188G>A; 373+235C>G; 373+268T>G; 373+446A>G; 373+786A>G; 373+788G>A; 373+891A>G; 373+950A>G; 373+1011A>G; 373+1013G>A] BGMUT_764 longName AF134412.1(ABO):c.[467C>T; 1061delC; 98+362C>T; 98+369C>G; 98+396T>C; 155+41G>A; 155+199C>T; 155+377C>T; 155+399G>A; 155+969T>C; 155+1254C>T; 155+1357C>T; 203+1delG; 203+28G>C; 203+74A>T; 203+215A>G; 203+216A>C; 203+673A>T; 203+738T>G; 203+1467G>A; 203+1496T>C; 203+1511T>G; 203+1623C>CC] TP53_g.12381C>G commonName C>G TP53_g.12381C>G protEffect p.Asn131Lys TP53_g.13860del commonName del1 TP53_g.13839G>A commonName G>A TP53_g.13839G>A protEffect p.Glu287Lys TP53_g.13833G>C commonName G>C TP53_g.13833G>C protEffect p.Glu285Gln TP53_g.13841G>A commonName G>A TP53_g.13841G>A protEffect p.Glu287Glu TP53_g.13410A>G commonName A>G TP53_g.13410A>G protEffect p.Glu258Gly TP53_g.13380_13381delinsAA commonName GG>AA TP53_g.13380_13381delinsAA protEffect p.Arg248Gln TP53_g.12701C>T commonName C>T TP53_g.12701C>T protEffect p.Thr211Ile TP53_g.12496A>T commonName A>T TP53_g.12496A>T protEffect p.Thr170Ser TP53_g.12439C>G commonName C>G TP53_g.12439C>G protEffect p.Pro151Ala TP53_g.12679G>T commonName G>T TP53_g.12679G>T protEffect p.Glu204STOP TP53_g.13819G>T commonName G>T TP53_g.13819G>T protEffect p.Arg280Ile TP53_g.12449G>A commonName G>A TP53_g.12449G>A protEffect p.Gly154Asp TP53_g.13368G>T commonName G>T TP53_g.13368G>T protEffect p.Gly244Val TP53_g.13383G>A commonName G>A TP53_g.13383G>A protEffect p.Arg249Lys TP53_g.13837A>G commonName A>G TP53_g.13837A>G protEffect p.Glu286Gly TP53_g.12661G>T commonName G>T TP53_g.12661G>T protEffect p.Glu198STOP TP53_g.13794G>C commonName G>C TP53_g.13794G>C protEffect p.Val272Leu TP53_g.13809T>G commonName T>G TP53_g.13809T>G protEffect p.Cys277Gly TP53_g.13351T>A commonName T>A TP53_g.13351T>A protEffect p.Cys238STOP TP53_g.13886G>T commonName G>T TP53_g.13886G>T protEffect p.Gly302Gly TP53_g.13805_13806ins30 commonName ins30 TP53_g.12468G>T commonName G>T TP53_g.12468G>T protEffect p.Met160Ile TP53_g.12363G>T commonName G>T TP53_g.13762G>T commonName G>T TP53_g.12400G>C commonName G>C TP53_g.12400G>C protEffect p.Ala138Pro TP53_g.12678G>T commonName G>T TP53_g.12678G>T protEffect p.Val203Val TP53_g.12415G>T commonName G>T TP53_g.12415G>T protEffect p.Val143Leu TP53_g.11569_11570delinsGT commonName TC>GT TP53_g.11569_11570delinsGT protEffect p.Phe113Cys TP53_g.11568_11569delinsGG commonName TT>GG TP53_g.11568_11569delinsGG protEffect p.Phe113Gly TP53_g.12364_12384del commonName del21 TP53_g.12364_12384del protEffect Y126_K132del TP53_g.12368C>T commonName C>T TP53_g.12368C>T protEffect p.Ser127Phe TP53_g.12506T>C commonName T>C TP53_g.12506T>C protEffect p.Val173Ala TP53_g.12521A>C commonName A>C TP53_g.12521A>C protEffect p.His178Pro TP53_g.12523C>G commonName C>G TP53_g.12523C>G protEffect p.His179Asp TP53_g.13351_13352del commonName del2 TP53_g.13362G>A commonName G>A TP53_g.13362G>A protEffect p.Cys242Tyr TP53_g.13401T>C commonName T>C TP53_g.13401T>C protEffect p.Ile255Thr TP53_g.13776G>A commonName G>A TP53_g.13776G>A protEffect p.Gly266Arg TP53_g.13813C>G commonName C>G TP53_g.13813C>G protEffect p.Pro278Arg TP53_g.13346_13347del commonName del2 TP53_g.12520C>G commonName C>G TP53_g.12520C>G protEffect p.His178Asp TP53_g.12393C>T commonName C>T TP53_g.12393C>T protEffect p.Cys135Cys TP53_g.12441C>T commonName C>T TP53_g.12441C>T protEffect p.Pro151Pro TP53_g.12440C>T commonName C>T TP53_g.12440C>T protEffect p.Pro151Leu TP53_g.13375G>T commonName G>T TP53_g.13375G>T protEffect p.Met246Ile TP53_g.12627A>C commonName A>C TP53_g.12724_12735del commonName del12 TP53_g.13402_13405del commonName del4 TP53_g.12517C>T commonName C>T TP53_g.12517C>T protEffect p.Pro177Ser TP53_g.12393C>G commonName C>G TP53_g.12393C>G protEffect p.Cys135Trp TP53_g.13880_13881ins2 commonName ins2 TP53_g.13388A>C commonName A>C TP53_g.13388A>C protEffect p.Ile251Leu TP53_g.13398T>C commonName T>C TP53_g.13398T>C protEffect p.Ile254Thr TP53_g.13323G>C commonName G>C TP53_g.13323G>C protEffect p.Cys229Ser TP53_g.12443C>A commonName C>A TP53_g.12443C>A protEffect p.Pro152Gln TP53_g.13412G>T commonName G>T TP53_g.13412G>T protEffect p.Asp259Tyr TP53_g.13404C>T commonName C>T TP53_g.13404C>T protEffect p.Thr256Ile TP53_g.12512G>C commonName G>C TP53_g.12512G>C protEffect p.Arg175Pro TP53_g.12497C>T commonName C>T TP53_g.12497C>T protEffect p.Thr170Met TP53_g.13355A>G commonName A>G TP53_g.13355A>G protEffect p.Ser240Gly TP53_g.12556C>T commonName C>T TP53_g.11327G>C commonName G>C TP53_g.13420G>T commonName G>T TP53_g.12706C>A commonName C>A TP53_g.12706C>A protEffect p.Arg213Arg TP53_g.13395C>T commonName C>T TP53_g.13395C>T protEffect p.Thr253Ile TP53_g.13823C>A commonName C>A TP53_g.13823C>A protEffect p.Asp281Glu TP53_g.13788T>C commonName T>C TP53_g.13788T>C protEffect p.Phe270Leu TP53_g.16915del commonName del1 TP53_g.12478A>G commonName A>G TP53_g.12478A>G protEffect p.Lys164Glu TP53_g.13350G>C commonName G>C TP53_g.13350G>C protEffect p.Cys238Ser TP53_g.13320A>G commonName A>G TP53_g.13320A>G protEffect p.Asp228Gly TP53_g.13341A>G commonName A>G TP53_g.13341A>G protEffect p.Asn235Ser TP53_g.13309G>T commonName G>T TP53_g.12658G>A commonName G>A TP53_g.12658G>A protEffect p.Val197Met TP53_g.12656G>C commonName G>C TP53_g.12656G>C protEffect p.Arg196Pro TP53_g.11213G>A commonName G>A TP53_g.11213G>A protEffect p.Val31Ile TP53_g.12460del commonName del1 TP53_g.13991G>A commonName G>A TP53_g.11559del commonName del1 TP53_g.11504G>A commonName G>A TP53_g.11504G>A protEffect p.Trp91STOP TP53_g.12487C>T commonName C>T TP53_g.12487C>T protEffect p.Gln167STOP TP53_g.12448_12461del commonName del14 TP53_g.12651_12652ins1 commonName ins1 TP53_g.12665G>A commonName G>A TP53_g.12665G>A protEffect p.Gly199Glu TP53_g.13801T>G commonName T>G TP53_g.13801T>G protEffect p.Val274Gly TP53_g.12519_12520ins1 commonName ins1 TP53_g.12415G>A commonName G>A TP53_g.12415G>A protEffect p.Val143Met TP53_g.13795T>A commonName T>A TP53_g.13795T>A protEffect p.Val272Glu TP53_g.13774_13775delinsCT commonName TG>CT TP53_g.13774_13775delinsCT protEffect p.Leu265Pro TP53_g.16936del commonName del1 TP53_g.13380_13381delinsTT commonName GG>TT TP53_g.13380_13381delinsTT protEffect p.Arg248Leu TP53_g.12626T>G commonName T>G TP53_g.13315_13316ins37 commonName ins37 TP53_g.13407T>A commonName T>A TP53_g.13407T>A protEffect p.Leu257Gln TP53_g.13892_13893ins4 commonName ins4 TP53_g.12741G>A commonName G>A TP53_g.12741G>A protEffect p.Glu224Glu TP53_g.13777G>A commonName G>A TP53_g.13777G>A protEffect p.Gly266Glu TP53_g.13816G>A commonName G>A TP53_g.13816G>A protEffect p.Gly279Glu TP53_g.12721_12722del commonName del2 TP53_g.12406del commonName del1 TP53_g.12394C>G commonName C>G TP53_g.12394C>G protEffect p.Gln136Glu TP53_g.12544G>T commonName G>T TP53_g.12544G>T protEffect p.Asp186Tyr TP53_g.12670del commonName del1 TP53_g.12478A>C commonName A>C TP53_g.12478A>C protEffect p.Lys164Gln TP53_g.12692A>T commonName A>T TP53_g.12692A>T protEffect p.Asp208Val TP53_g.13400_13402del commonName del3 TP53_g.12547G>T commonName G>T TP53_g.12547G>T protEffect p.Gly187Cys TP53_g.13385C>G commonName C>G TP53_g.13385C>G protEffect p.Pro250Ala TP53_g.13899G>A commonName G>A TP53_g.13899G>A protEffect p.Ala307Thr TP53_g.13818A>G commonName A>G TP53_g.13818A>G protEffect p.Arg280Gly TP53_g.13780G>A commonName G>A TP53_g.13780G>A protEffect p.Arg267Gln TP53_g.13773del commonName del1 TP53_g.13794G>T commonName G>T TP53_g.13794G>T protEffect p.Val272Leu TP53_g.13358_13360del commonName del3 TP53_g.13776G>T commonName G>T TP53_g.13776G>T protEffect p.Gly266STOP TP53_g.12530G>C commonName G>C TP53_g.12530G>C protEffect p.Arg181Pro TP53_g.13800G>C commonName G>C TP53_g.13800G>C protEffect p.Val274Leu TP53_g.13805_13806ins4 commonName ins4 TP53_g.12409T>G commonName T>G TP53_g.12409T>G protEffect p.Cys141Gly TP53_g.13368G>A commonName G>A TP53_g.13368G>A protEffect p.Gly244Asp TP53_g.13322_13323del commonName del2 TP53_g.13388del commonName del1 TP53_g.12398T>C commonName T>C TP53_g.12398T>C protEffect p.Leu137Pro TP53_g.13855A>G commonName A>G TP53_g.13855A>G protEffect p.Lys292Arg TP53_g.13399C>A commonName C>A TP53_g.13399C>A protEffect p.Ile254Ile TP53_g.13805T>C commonName T>C TP53_g.13805T>C protEffect p.Cys275Cys TP53_g.12638C>T commonName C>T TP53_g.12638C>T protEffect p.Pro190Leu TP53_g.12439C>A commonName C>A TP53_g.12439C>A protEffect p.Pro151Thr TP53_g.13812_13813delinsTT commonName CC>TT TP53_g.13812_13813delinsTT protEffect p.Pro278Phe TP53_g.13331A>T commonName A>T TP53_g.13331A>T protEffect p.Ile232Phe TP53_g.12438_12439ins1 commonName ins1 TP53_g.12525T>C commonName T>C TP53_g.12525T>C protEffect p.His179His TP53_g.12458T>A commonName T>A TP53_g.12458T>A protEffect p.Val157Asp TP53_g.12664_12677del commonName del14 TP53_g.12508A>T commonName A>T TP53_g.12508A>T protEffect p.Arg174Trp TP53_g.13345C>G commonName C>G TP53_g.13345C>G protEffect p.Tyr236STOP TP53_g.13411A>T commonName A>T TP53_g.13411A>T protEffect p.Glu258Asp TP53_g.12694_12700del commonName del7 TP53_g.12427G>A commonName G>A TP53_g.12427G>A protEffect p.Val147Ile TP53_g.12391T>C commonName T>C TP53_g.12391T>C protEffect p.Cys135Arg TP53_g.13774T>C commonName T>C TP53_g.13774T>C protEffect p.Leu265Pro TP53_g.12498_12499delinsTT commonName GG>TT TP53_g.12498_12499delinsTT protEffect E171X TP53_g.12447C>T commonName C>T TP53_g.12447C>T protEffect p.Pro153Pro TP53_g.12363G>C commonName G>C TP53_g.13417C>T commonName C>T TP53_g.13417C>T protEffect p.Ser260Ser TP53_g.12394C>T commonName C>T TP53_g.12394C>T protEffect p.Gln136STOP TP53_g.12494T>A commonName T>A TP53_g.12494T>A protEffect p.Met169Lys TP53_g.12496A>G commonName A>G TP53_g.12496A>G protEffect p.Thr170Ala TP53_g.13792A>G commonName A>G TP53_g.13792A>G protEffect p.Glu271Gly TP53_g.12406A>G commonName A>G TP53_g.12406A>G protEffect p.Thr140Ala TP53_g.12412C>T commonName C>T TP53_g.12412C>T protEffect p.Pro142Ser TP53_g.13827C>G commonName C>G TP53_g.13827C>G protEffect p.Arg283Gly TP53_g.12533G>A commonName G>A TP53_g.12533G>A protEffect p.Cys182Tyr TP53_g.13825G>A commonName G>A TP53_g.13825G>A protEffect p.Arg282Gln TP53_g.13829del commonName del1 TP53_g.13395C>G commonName C>G TP53_g.13395C>G protEffect p.Thr253Ser TP53_g.12463G>C commonName G>C TP53_g.12463G>C protEffect p.Ala159Pro TP53_g.13381G>T commonName G>T TP53_g.13381G>T protEffect p.Arg248Arg TP53_g.12472A>T commonName A>T TP53_g.12472A>T protEffect p.Ile162Phe TP53_g.13383G>C commonName G>C TP53_g.13383G>C protEffect p.Arg249Thr TP53_g.13379C>G commonName C>G TP53_g.13379C>G protEffect p.Arg248Gly TP53_g.13401T>G commonName T>G TP53_g.13401T>G protEffect p.Ile255Ser TP53_g.13815_13838del commonName del24 TP53_g.12482A>T commonName A>T TP53_g.12482A>T protEffect p.Gln165Leu TP53_g.13896C>T commonName C>T TP53_g.13896C>T protEffect p.Arg306STOP TP53_g.13899_13914del commonName del16 TP53_g.12683A>C commonName A>C TP53_g.12683A>C protEffect p.Tyr205Ser TP53_g.12676del commonName del1 TP53_g.13373A>T commonName A>T TP53_g.13373A>T protEffect p.Met246Leu TP53_g.12448del commonName del1 TP53_g.12363G>A commonName G>A TP53_g.13791del commonName del1 TP53_g.12473T>G commonName T>G TP53_g.12473T>G protEffect p.Ile162Ser TP53_g.12520del commonName del1 TP53_g.13403del commonName del1 TP53_g.12385A>C commonName A>C TP53_g.12385A>C protEffect p.Met133Leu TP53_g.12690T>G commonName T>G TP53_g.12690T>G protEffect p.Asp207Glu TP53_g.11036G>C commonName G>C TP53_g.11036G>C protEffect p.Glu11Gln TP53_g.13871C>T commonName C>T TP53_g.13871C>T protEffect p.His297His TP53_g.13821G>A commonName G>A TP53_g.13821G>A protEffect p.Asp281Asn TP53_g.13370G>C commonName G>C TP53_g.13370G>C protEffect p.Gly245Arg TP53_g.13356G>T commonName G>T TP53_g.13356G>T protEffect p.Ser240Ile TP53_g.13823_13824ins1 commonName ins1 TP53_g.13347del commonName del1 TP53_g.13813C>A commonName C>A TP53_g.13813C>A protEffect p.Pro278His TP53_g.12530G>T commonName G>T TP53_g.12530G>T protEffect p.Arg181Leu TP53_g.13409G>C commonName G>C TP53_g.13409G>C protEffect p.Glu258Gln TP53_g.14020C>T commonName C>T TP53_g.14020C>T protEffect p.Pro316Pro TP53_g.13355del commonName del1 TP53_g.12380A>G commonName A>G TP53_g.12380A>G protEffect p.Asn131Ser TP53_g.13386C>T commonName C>T TP53_g.13386C>T protEffect p.Pro250Leu TP53_g.12398T>A commonName T>A TP53_g.12398T>A protEffect p.Leu137Gln TP53_g.12454_12458del commonName del5 TP53_g.13801T>C commonName T>C TP53_g.13801T>C protEffect p.Val274Ala TP53_g.13385del commonName del1 TP53_g.12513_12514ins1 commonName ins1 TP53_g.13374T>G commonName T>G TP53_g.13374T>G protEffect p.Met246Arg TP53_g.12457_12463del commonName del7 TP53_g.13346_13363del commonName del18 TP53_g.13358T>G commonName T>G TP53_g.13358T>G protEffect p.Ser241Ala TP53_g.13382A>T commonName A>T TP53_g.13382A>T protEffect p.Arg249Trp TP53_g.12409del commonName del1 TP53_g.12377T>G commonName T>G TP53_g.12377T>G protEffect p.Leu130Arg TP53_g.12724del commonName del1 TP53_g.13788T>G commonName T>G TP53_g.13788T>G protEffect p.Phe270Val TP53_g.11499_11556del commonName del58 TP53_g.13422C>G commonName C>G TP53_g.12393C>A commonName C>A TP53_g.12393C>A protEffect p.Cys135STOP TP53_g.12713G>A commonName G>A TP53_g.12713G>A protEffect p.Ser215Asn TP53_g.16900C>T commonName C>T TP53_g.16900C>T protEffect p.Arg337Cys TP53_g.13361T>A commonName T>A TP53_g.13361T>A protEffect p.Cys242Ser TP53_g.11336G>C commonName G>C TP53_g.11336G>C protEffect p.Leu35Phe TP53_g.13400A>T commonName A>T TP53_g.13400A>T protEffect p.Ile255Phe TP53_g.12502G>T commonName G>T TP53_g.12502G>T protEffect p.Val172Phe TP53_g.12466A>G commonName A>G TP53_g.12466A>G protEffect p.Met160Val TP53_g.13346A>C commonName A>C TP53_g.13346A>C protEffect p.Met237Leu TP53_g.12428T>C commonName T>C TP53_g.12428T>C protEffect p.Val147Ala TP53_g.13324del commonName del1 TP53_g.11596_11597del commonName del2 TP53_g.13391_13396del commonName del6 TP53_g.12457_12465del commonName del9 TP53_g.12464C>A commonName C>A TP53_g.12464C>A protEffect p.Ala159Asp TP53_g.13399C>G commonName C>G TP53_g.13399C>G protEffect p.Ile254Met TP53_g.12370_12396del commonName del27 TP53_g.13824_13829del commonName del6 TP53_g.12677T>C commonName T>C TP53_g.12677T>C protEffect p.Val203Ala TP53_g.11415G>T commonName G>T TP53_g.11415G>T protEffect p.Glu62STOP TP53_g.12724C>T commonName C>T TP53_g.12724C>T protEffect p.Pro219Ser TP53_g.11442del commonName del1 TP53_g.13358del commonName del1 TP53_g.12472A>G commonName A>G TP53_g.12472A>G protEffect p.Ile162Val TP53_g.14014_14015ins1 commonName ins1 TP53_g.13398T>G commonName T>G TP53_g.13398T>G protEffect p.Ile254Ser TP53_g.13848C>T commonName C>T TP53_g.13848C>T protEffect p.Arg290Cys TP53_g.12417G>T commonName G>T TP53_g.12417G>T protEffect p.Val143Val TP53_g.12425G>A commonName G>A TP53_g.12425G>A protEffect p.Trp146STOP TP53_g.13360C>A commonName C>A TP53_g.13360C>A protEffect p.Ser241Ser TP53_g.12699_12700ins1 commonName ins1 TP53_g.12650T>C commonName T>C TP53_g.12650T>C protEffect p.Leu194Pro TP53_g.13343T>A commonName T>A TP53_g.13343T>A protEffect p.Tyr236Asn TP53_g.13779C>T commonName C>T TP53_g.13779C>T protEffect p.Arg267Trp TP53_g.12477C>G commonName C>G TP53_g.12477C>G protEffect p.Tyr163STOP TP53_g.12532T>A commonName T>A TP53_g.12532T>A protEffect p.Cys182Ser TP53_g.13803T>G commonName T>G TP53_g.13803T>G protEffect p.Cys275Gly TP53_g.12460_12463del commonName del4 TP53_g.11565del commonName del1 TP53_g.13316_13319del commonName del4 TP53_g.12648T>A commonName T>A TP53_g.12648T>A protEffect p.His193Gln TP53_g.11367del commonName del1 TP53_g.13359C>A commonName C>A TP53_g.13359C>A protEffect p.Ser241Tyr TP53_g.12730G>T commonName G>T TP53_g.12730G>T protEffect p.Glu221STOP TP53_g.14017_14018ins1 commonName ins1 TP53_g.30020_30115del commonName del96 TP53_g.12677T>A commonName T>A TP53_g.12677T>A protEffect p.Val203Glu TP53_g.13844_13845ins2 commonName ins2 TP53_g.12430_12439del commonName del10 TP53_g.13800_13831del commonName del32 TP53_g.13337_13341del commonName del5 TP53_g.13806_13811del commonName del6 TP53_g.13854_13855del commonName del2 TP53_g.12739_12742del commonName del4 TP53_g.12460_12465del commonName del6 TP53_g.12410G>T commonName G>T TP53_g.12410G>T protEffect p.Cys141Phe TP53_g.12532del commonName del1 TP53_g.13764_13777del commonName del14 TP53_g.16957G>T commonName G>T TP53_g.16957G>T protEffect p.Gly356Trp TP53_g.13420G>A commonName G>A TP53_g.13839_13843del commonName del5 TP53_g.13836G>T commonName G>T TP53_g.13836G>T protEffect p.Glu286STOP TP53_g.13859G>A commonName G>A TP53_g.13859G>A protEffect p.Gly293Gly TP53_g.12427del commonName del1 TP53_g.12481C>T commonName C>T TP53_g.12481C>T protEffect p.Gln165STOP TP53_g.13850del commonName del1 TP53_g.12389T>C commonName T>C TP53_g.12389T>C protEffect p.Phe134Ser TP53_g.12428T>G commonName T>G TP53_g.12428T>G protEffect p.Val147Gly TP53_g.12517del commonName del1 TP53_g.13876T>C commonName T>C TP53_g.13876T>C protEffect p.Leu299Pro TP53_g.11545G>T commonName G>T TP53_g.11545G>T protEffect p.Gly105Val TP53_g.12707G>T commonName G>T TP53_g.12707G>T protEffect p.Arg213Leu TP53_g.13417_13418ins3 commonName ins3 TP53_g.11336G>T commonName G>T TP53_g.11336G>T protEffect p.Leu35Phe TP53_g.13865T>C commonName T>C TP53_g.13865T>C protEffect p.Pro295Pro TP53_g.12628G>A commonName G>A TP53_g.12694del commonName del1 TP53_g.13408_13409delinsAA commonName GG>AA TP53_g.13408_13409delinsAA protEffect E258K TP53_g.11529C>T commonName C>T TP53_g.11529C>T protEffect p.Gln100STOP TP53_g.12518C>T commonName C>T TP53_g.12518C>T protEffect p.Pro177Leu TP53_g.12520C>A commonName C>A TP53_g.12520C>A protEffect p.His178Asn TP53_g.11370_11371del commonName del2 TP53_g.16914_16915delinsTT commonName CC>TT TP53_g.16914_16915delinsTT protEffect R342X TP53_g.13823_13824delinsTT commonName CC>TT TP53_g.13823_13824delinsTT protEffect R282W TP53_g.12515del commonName del1 TP53_g.13387C>T commonName C>T TP53_g.13387C>T protEffect p.Pro250Pro TP53_g.13834A>T commonName A>T TP53_g.13834A>T protEffect p.Glu285Val TP53_g.12649_12652del commonName del4 TP53_g.13789T>C commonName T>C TP53_g.13789T>C protEffect p.Phe270Ser TP53_g.12510G>C commonName G>C TP53_g.12510G>C protEffect p.Arg174Ser TP53_g.11556_11561del commonName del6 TP53_g.12430_12453del commonName del24 TP53_g.13879C>G commonName C>G TP53_g.13879C>G protEffect p.Pro300Arg TP53_g.12515G>C commonName G>C TP53_g.12515G>C protEffect p.Cys176Ser TP53_g.16906G>T commonName G>T TP53_g.16906G>T protEffect p.Glu339STOP TP53_g.13842A>T commonName A>T TP53_g.13842A>T protEffect p.Asn288Tyr TP53_g.12501G>C commonName G>C TP53_g.12501G>C protEffect p.Glu171Asp TP53_g.12659T>A commonName T>A TP53_g.12659T>A protEffect p.Val197Glu TP53_g.13354C>A commonName C>A TP53_g.13354C>A protEffect p.Asn239Lys TP53_g.13797C>A commonName C>A TP53_g.13797C>A protEffect p.Arg273Ser TP53_g.13343T>G commonName T>G TP53_g.13343T>G protEffect p.Tyr236Asp TP53_g.13336_13337ins1 commonName ins1 TP53_g.12433del commonName del1 TP53_g.12646C>G commonName C>G TP53_g.12646C>G protEffect p.His193Asp TP53_g.12517_12534del commonName del18 TP53_g.12490C>G commonName C>G TP53_g.12490C>G protEffect p.His168Asp TP53_g.12672G>C commonName G>C TP53_g.12672G>C protEffect p.Leu201Phe TP53_g.12435C>T commonName C>T TP53_g.12435C>T protEffect p.Ser149Ser TP53_g.13382del commonName del1 TP53_g.12508del commonName del1 TP53_g.13800_13807del commonName del8 TP53_g.12675_12676ins1 commonName ins1 TP53_g.13336C>T commonName C>T TP53_g.13336C>T protEffect p.His233His TP53_g.13343T>C commonName T>C TP53_g.13343T>C protEffect p.Tyr236His TP53_g.13346A>G commonName A>G TP53_g.13346A>G protEffect p.Met237Val TP53_g.13846T>A commonName T>A TP53_g.13846T>A protEffect p.Leu289His TP53_g.16885_16991del commonName del107 TP53_g.12505_12507del commonName del3 TP53_g.12716T>G commonName T>G TP53_g.12716T>G protEffect p.Val216Gly TP53_g.13863C>T commonName C>T TP53_g.13863C>T protEffect p.Pro295Ser TP53_g.13928G>A commonName G>A TP53_g.13783A>G commonName A>G TP53_g.13783A>G protEffect p.Asn268Ser TP53_g.13885G>A commonName G>A TP53_g.13885G>A protEffect p.Gly302Glu TP53_g.13828G>A commonName G>A TP53_g.13828G>A protEffect p.Arg283His TP53_g.13412G>A commonName G>A TP53_g.13412G>A protEffect p.Asp259Asn TP53_g.13364A>T commonName A>T TP53_g.13364A>T protEffect p.Met243Leu TP53_g.13349T>G commonName T>G TP53_g.13349T>G protEffect p.Cys238Gly TP53_g.13405A>G commonName A>G TP53_g.13405A>G protEffect p.Thr256Thr TP53_g.13760T>C commonName T>C TP53_g.13885G>T commonName G>T TP53_g.13885G>T protEffect p.Gly302Val TP53_g.13882C>T commonName C>T TP53_g.13882C>T protEffect p.Pro301Leu TP53_g.12662A>G commonName A>G TP53_g.12662A>G protEffect p.Glu198Gly TP53_g.12541del commonName del1 TP53_g.13763T>C commonName T>C TP53_g.13763T>C protEffect p.Ser261Ser TP53_g.13778A>G commonName A>G TP53_g.13778A>G protEffect p.Gly266Gly TP53_g.12505_12506delinsTG commonName GT>TG TP53_g.12505_12506delinsTG protEffect p.Val173Trp TP53_g.12514del commonName del1 TP53_g.12504T>A commonName T>A TP53_g.12504T>A protEffect p.Val172Val TP53_g.12392G>T commonName G>T TP53_g.12392G>T protEffect p.Cys135Phe TP53_g.13849G>A commonName G>A TP53_g.13849G>A protEffect p.Arg290His TP53_g.13764del commonName del1 TP53_g.13857G>T commonName G>T TP53_g.13857G>T protEffect p.Gly293Trp TP53_g.12278T>C commonName T>C TP53_g.13898_13899ins1 commonName ins1 TP53_g.12393_12394ins1 commonName ins1 TP53_g.12391T>A commonName T>A TP53_g.12391T>A protEffect p.Cys135Ser TP53_g.12442_12443delinsTT commonName CC>TT TP53_g.12442_12443delinsTT protEffect p.Pro152Leu TP53_g.12522_12523delinsTT commonName CC>TT TP53_g.12522_12523delinsTT protEffect H179Y TP53_g.12393_12394delinsTT commonName CC>TT TP53_g.12393_12394delinsTT protEffect Q136X TP53_g.13377A>C commonName A>C TP53_g.13377A>C protEffect p.Asn247Thr TP53_g.12464_12465delinsTT commonName CC>TT TP53_g.12464_12465delinsTT protEffect p.Ala159Val TP53_g.11568T>G commonName T>G TP53_g.11568T>G protEffect p.Phe113Val TP53_g.13368G>C commonName G>C TP53_g.13368G>C protEffect p.Gly244Ala TP53_g.13770_13787del commonName del18 TP53_g.13380G>C commonName G>C TP53_g.13380G>C protEffect p.Arg248Pro TP53_g.12709_12710del commonName del2 TP53_g.13353A>C commonName A>C TP53_g.13353A>C protEffect p.Asn239Thr TP53_g.13367_13374del commonName del8 TP53_g.12508_12524del commonName del17 TP53_g.12385del commonName del1 TP53_g.13791G>T commonName G>T TP53_g.13791G>T protEffect p.Glu271STOP TP53_g.13770del commonName del1 TP53_g.13402_13403ins1 commonName ins1 TP53_g.12718_12720del commonName del3 TP53_g.16905_16906ins5 commonName ins5 TP53_g.12649_12653del commonName del5 TP53_g.12396A>G commonName A>G TP53_g.12396A>G protEffect p.Gln136Gln TP53_g.12478A>T commonName A>T TP53_g.12478A>T protEffect p.Lys164STOP TP53_g.12425G>C commonName G>C TP53_g.12425G>C protEffect p.Trp146Ser TP53_g.11504G>T commonName G>T TP53_g.11504G>T protEffect p.Trp91Cys TP53_g.12485C>G commonName C>G TP53_g.12485C>G protEffect p.Ser166STOP TP53_g.12680A>T commonName A>T TP53_g.12680A>T protEffect p.Glu204Val TP53_g.13878del commonName del1 TP53_g.12649_12661del commonName del13 TP53_g.12451_12460del commonName del10 TP53_g.13360_13361ins1 commonName ins1 TP53_g.12684_12685ins1 commonName ins1 TP53_g.12383A>T commonName A>T TP53_g.12383A>T protEffect p.Lys132Met TP53_g.12698A>G commonName A>G TP53_g.12698A>G protEffect p.Asn210Ser TP53_g.12719T>C commonName T>C TP53_g.12719T>C protEffect p.Val217Ala TP53_g.13838A>C commonName A>C TP53_g.13838A>C protEffect p.Glu286Asp TP53_g.12636C>T commonName C>T TP53_g.12636C>T protEffect p.Ala189Ala TP53_g.30002_30011del commonName del10 TP53_g.13761A>T commonName A>T TP53_g.12627A>T commonName A>T TP53_g.12712_12727del commonName del16 TP53_g.12463del commonName del1 TP53_g.12653T>G commonName T>G TP53_g.12653T>G protEffect p.Ile195Ser TP53_g.12414_12415ins5 commonName ins5 TP53_g.12647A>T commonName A>T TP53_g.12647A>T protEffect p.His193Leu TP53_g.12481_12484del commonName del4 TP53_g.12489_12490ins8 commonName ins8 TP53_g.13850C>T commonName C>T TP53_g.13850C>T protEffect p.Arg290Arg TP53_g.12633_12634ins1 commonName ins1 TP53_g.12499G>A commonName G>A TP53_g.12499G>A protEffect p.Glu171Lys TP53_g.13323G>A commonName G>A TP53_g.13323G>A protEffect p.Cys229Tyr TP53_g.12711T>G commonName T>G TP53_g.12711T>G protEffect p.His214Gln TP53_g.13818A>T commonName A>T TP53_g.13818A>T protEffect p.Arg280STOP TP53_g.13828G>T commonName G>T TP53_g.13828G>T protEffect p.Arg283Leu TP53_g.13386_13387delinsAG commonName CC>AG TP53_g.13386_13387delinsAG protEffect p.Pro250Gln TP53_g.13389del commonName del1 TP53_g.12508_12533del commonName del26 TP53_g.13763_13899del commonName del137 TP53_g.12432T>A commonName T>A TP53_g.12432T>A protEffect p.Asp148Glu TP53_g.13385_13386delinsAA commonName CC>AA TP53_g.13385_13386delinsAA protEffect p.Pro250Asn TP53_g.12547G>A commonName G>A TP53_g.12547G>A protEffect p.Gly187Ser TP53_g.13822A>C commonName A>C TP53_g.13822A>C protEffect p.Asp281Ala TP53_g.13881del commonName del1 TP53_g.12454C>T commonName C>T TP53_g.12454C>T protEffect p.Arg156Cys TP53_g.11463_11475del commonName del13 TP53_g.11370_11373del commonName del4 TP53_g.11560G>C commonName G>C TP53_g.11560G>C protEffect p.Arg110Pro TP53_g.13370_13382del commonName del13 TP53_g.11553_11557del commonName del5 TP53_g.13387_13388ins4 commonName ins4 TP53_g.13857_13871del commonName del15 TP53_g.11472del commonName del1 TP53_g.13796G>C commonName G>C TP53_g.13796G>C protEffect p.Val272Val TP53_g.12640C>A commonName C>A TP53_g.12640C>A protEffect p.Pro191Thr TP53_g.12394C>A commonName C>A TP53_g.12394C>A protEffect p.Gln136Lys TP53_g.13370_13371delinsCA commonName GG>CA TP53_g.13370_13371delinsCA protEffect p.Gly245His TP53_g.13807C>A commonName C>A TP53_g.13807C>A protEffect p.Ala276Asp TP53_g.12400del commonName del1 TP53_g.12503T>C commonName T>C TP53_g.12503T>C protEffect p.Val172Ala TP53_g.12485C>T commonName C>T TP53_g.12485C>T protEffect p.Ser166Leu TP53_g.11424A>T commonName A>T TP53_g.11424A>T protEffect p.Arg65STOP TP53_g.13767A>C commonName A>C TP53_g.13767A>C protEffect p.Asn263His TP53_g.13363C>T commonName C>T TP53_g.13363C>T protEffect p.Cys242Cys TP53_g.11605C>T commonName C>T TP53_g.11605C>T protEffect p.Thr125Met TP53_g.12491A>T commonName A>T TP53_g.12491A>T protEffect p.His168Leu TP53_g.11541_11561del commonName del21 TP53_g.11359T>C commonName T>C TP53_g.11359T>C protEffect p.Leu43Ser TP53_g.14054del commonName del1 TP53_g.13818_13819ins1 commonName ins1 TP53_g.12498_12499del commonName del2 TP53_g.12692del commonName del1 TP53_g.13359del commonName del1 TP53_g.13357_13358ins2 commonName ins2 TP53_g.11389G>A commonName G>A TP53_g.11389G>A protEffect p.Trp53STOP TP53_g.13323_13324del commonName del2 TP53_g.13764_13765delinsCA commonName GG>CA TP53_g.13764_13765delinsCA protEffect p.Gly262His TP53_g.13852A>G commonName A>G TP53_g.13852A>G protEffect p.Lys291Arg TP53_g.12407C>T commonName C>T TP53_g.12407C>T protEffect p.Thr140Ile TP53_g.13894A>G commonName A>G TP53_g.13894A>G protEffect p.Lys305Arg TP53_g.12454C>A commonName C>A TP53_g.12454C>A protEffect p.Arg156Ser TP53_g.12519C>T commonName C>T TP53_g.12519C>T protEffect p.Pro177Pro TP53_g.13861A>G commonName A>G TP53_g.13861A>G protEffect p.Glu294Gly TP53_g.13898A>T commonName A>T TP53_g.13898A>T protEffect p.Arg306Arg TP53_g.13412G>C commonName G>C TP53_g.13412G>C protEffect p.Asp259His TP53_g.13839del commonName del1 TP53_g.12474C>G commonName C>G TP53_g.12474C>G protEffect p.Ile162Met TP53_g.13402_13403ins28 commonName ins28 TP53_g.12695G>A commonName G>A TP53_g.12695G>A protEffect p.Arg209Lys TP53_g.12695G>C commonName G>C TP53_g.12695G>C protEffect p.Arg209Thr TP53_g.12491A>C commonName A>C TP53_g.12491A>C protEffect p.His168Pro TP53_g.12441_12442ins1 commonName ins1 TP53_g.12509del commonName del1 TP53_g.13404C>A commonName C>A TP53_g.13404C>A protEffect p.Thr256Lys TP53_g.12516_12517ins1 commonName ins1 TP53_g.12580T>G commonName T>G TP53_g.12617G>A commonName G>A TP53_g.13849G>T commonName G>T TP53_g.13849G>T protEffect p.Arg290Leu TP53_g.13392T>C commonName T>C TP53_g.13392T>C protEffect p.Leu252Pro TP53_g.13807C>T commonName C>T TP53_g.13807C>T protEffect p.Ala276Val TP53_g.16938A>C commonName A>C TP53_g.16938A>C protEffect p.Glu349Asp TP53_g.13310G>C commonName G>C TP53_g.13310G>C protEffect p.Val225Leu TP53_g.13789T>A commonName T>A TP53_g.13789T>A protEffect p.Phe270Tyr TP53_g.12508_12516del commonName del9 TP53_g.12740A>G commonName A>G TP53_g.12740A>G protEffect p.Glu224Gly TP53_g.13374T>A commonName T>A TP53_g.13374T>A protEffect p.Met246Lys TP53_g.12641C>A commonName C>A TP53_g.12641C>A protEffect p.Pro191His TP53_g.12363_12364ins3 commonName ins3 TP53_g.12411_12412ins1 commonName ins1 TP53_g.13355A>C commonName A>C TP53_g.13355A>C protEffect p.Ser240Arg TP53_g.13869C>T commonName C>T TP53_g.13869C>T protEffect p.His297Tyr TP53_g.13782A>C commonName A>C TP53_g.13782A>C protEffect p.Asn268His TP53_g.12702_12703ins1 commonName ins1 TP53_g.13829C>T commonName C>T TP53_g.13829C>T protEffect p.Arg283Arg TP53_g.13328A>G commonName A>G TP53_g.13328A>G protEffect p.Thr231Ala TP53_g.12732G>A commonName G>A TP53_g.12732G>A protEffect p.Glu221Glu TP53_g.12422T>C commonName T>C TP53_g.12422T>C protEffect p.Leu145Pro TP53_g.13790T>C commonName T>C TP53_g.13790T>C protEffect p.Phe270Phe TP53_g.12640C>T commonName C>T TP53_g.12640C>T protEffect p.Pro191Ser TP53_g.13310G>A commonName G>A TP53_g.13310G>A protEffect p.Val225Ile TP53_g.13418A>C commonName A>C TP53_g.13418A>C protEffect p.Ser261Arg TP53_g.12508_12517del commonName del10 TP53_g.12514T>G commonName T>G TP53_g.12514T>G protEffect p.Cys176Gly TP53_g.12652del commonName del1 TP53_g.13792A>T commonName A>T TP53_g.13792A>T protEffect p.Glu271Val TP53_g.14027A>T commonName A>T TP53_g.14027A>T protEffect p.Lys319STOP TP53_g.12518C>A commonName C>A TP53_g.12518C>A protEffect p.Pro177His TP53_g.13793G>C commonName G>C TP53_g.13793G>C protEffect p.Glu271Asp TP53_g.13856A>T commonName A>T TP53_g.13856A>T protEffect p.Lys292Asn TP53_g.13878C>T commonName C>T TP53_g.13878C>T protEffect p.Pro300Ser TP53_g.13386_13387delinsTG commonName CC>TG TP53_g.13386_13387delinsTG protEffect p.Pro250Leu TP53_g.12518_12519delinsTT commonName CC>TT TP53_g.12518_12519delinsTT protEffect p.Pro177Leu TP53_g.12674G>C commonName G>C TP53_g.12674G>C protEffect p.Arg202Pro TP53_g.12447_12448ins1 commonName ins1 TP53_g.13302T>A commonName T>A TP53_g.13418A>T commonName A>T TP53_g.13418A>T protEffect p.Ser261Cys TP53_g.13888G>C commonName G>C TP53_g.13888G>C protEffect p.Ser303Thr TP53_g.13939del commonName del1 TP53_g.13815G>A commonName G>A TP53_g.13815G>A protEffect p.Gly279Arg TP53_g.12503T>G commonName T>G TP53_g.12503T>G protEffect p.Val172Gly TP53_g.14061T>A commonName T>A TP53_g.14061T>A protEffect p.Leu330His TP53_g.12436_12447del commonName del12 TP53_g.12742G>T commonName G>T TP53_g.13328A>T commonName A>T TP53_g.13328A>T protEffect p.Thr231Ser TP53_g.13348G>C commonName G>C TP53_g.13348G>C protEffect p.Met237Ile TP53_g.13366G>C commonName G>C TP53_g.13366G>C protEffect p.Met243Ile TP53_g.13881C>G commonName C>G TP53_g.13881C>G protEffect p.Pro301Ala TP53_g.12463G>T commonName G>T TP53_g.12463G>T protEffect p.Ala159Ser TP53_g.14032G>C commonName G>C TP53_g.14032G>C protEffect p.Lys320Asn TP53_g.12479A>T commonName A>T TP53_g.12479A>T protEffect p.Lys164Met TP53_g.12656G>A commonName G>A TP53_g.12656G>A protEffect p.Arg196Gln TP53_g.12693C>A commonName C>A TP53_g.12693C>A protEffect p.Asp208Glu TP53_g.12693C>G commonName C>G TP53_g.12693C>G protEffect p.Asp208Glu TP53_g.13388_13390del commonName del3 TP53_g.12399G>A commonName G>A TP53_g.12399G>A protEffect p.Leu137Leu TP53_g.13830_13831del commonName del2 TP53_g.12687_12688ins4 commonName ins4 TP53_g.12677del commonName del1 TP53_g.12488A>G commonName A>G TP53_g.12488A>G protEffect p.Gln167Arg TP53_g.12439_12440del commonName del2 TP53_g.13866C>T commonName C>T TP53_g.13866C>T protEffect p.His296Tyr TP53_g.12664G>A commonName G>A TP53_g.12664G>A protEffect p.Gly199Arg TP53_g.13406C>G commonName C>G TP53_g.13406C>G protEffect p.Leu257Val TP53_g.13825delinsCCC commonName G>CCC TP53_g.13815G>T commonName G>T TP53_g.13815G>T protEffect p.Gly279Trp TP53_g.13870A>C commonName A>C TP53_g.13870A>C protEffect p.His297Pro TP53_g.13341del commonName del1 TP53_g.12721G>A commonName G>A TP53_g.12721G>A protEffect p.Val218Met TP53_g.12381_12382ins1 commonName ins1 TP53_g.12640_12642del commonName del3 TP53_g.12515_12516ins2 commonName ins2 TP53_g.12635C>G commonName C>G TP53_g.12635C>G protEffect p.Ala189Gly TP53_g.12379A>C commonName A>C TP53_g.12379A>C protEffect p.Asn131His TP53_g.13358T>C commonName T>C TP53_g.13358T>C protEffect p.Ser241Pro TP53_g.12511_12512del commonName del2 TP53_g.12490C>A commonName C>A TP53_g.12490C>A protEffect p.His168Asn TP53_g.12470_12471delinsGA commonName CC>GA TP53_g.12470_12471delinsGA protEffect p.Ala161Gly TP53_g.13340A>G commonName A>G TP53_g.13340A>G protEffect p.Asn235Asp TP53_g.12516del commonName del1 TP53_g.12411C>T commonName C>T TP53_g.12411C>T protEffect p.Cys141Cys TP53_g.16916G>C commonName G>C TP53_g.16916G>C protEffect p.Arg342Pro TP53_g.13260_13261ins1 commonName ins1 TP53_g.12525T>A commonName T>A TP53_g.12525T>A protEffect p.His179Gln TP53_g.14007C>G commonName C>G TP53_g.14007C>G protEffect p.Thr312Ser TP53_g.12694_12708del commonName del15 TP53_g.13880_13881ins1 commonName ins1 TP53_g.12486_12487ins1 commonName ins1 TP53_g.12697del commonName del1 TP53_g.12682T>C commonName T>C TP53_g.12682T>C protEffect p.Tyr205His TP53_g.12461G>C commonName G>C TP53_g.12461G>C protEffect p.Arg158Pro TP53_g.12641_12650del commonName del10 TP53_g.11380_11419del commonName del40 TP53_g.13401T>A commonName T>A TP53_g.13401T>A protEffect p.Ile255Asn TP53_g.11531G>A commonName G>A TP53_g.11531G>A protEffect p.Gln100Gln TP53_g.11549C>G commonName C>G TP53_g.11549C>G protEffect p.Ser106Arg TP53_g.14044T>G commonName T>G TP53_g.14044T>G protEffect p.Asp324Glu TP53_g.13373_13391del commonName del19 TP53_g.16927_16941del commonName del15 TP53_g.12627_12636del commonName del10 TP53_g.30003_30015del commonName del13 TP53_g.13776G>C commonName G>C TP53_g.13776G>C protEffect p.Gly266Arg TP53_g.12497_12504del commonName del8 TP53_g.13337T>G commonName T>G TP53_g.13337T>G protEffect p.Tyr234Asp TP53_g.12404A>G commonName A>G TP53_g.12404A>G protEffect p.Lys139Arg TP53_g.16952A>G commonName A>G TP53_g.16952A>G protEffect p.Gln354Arg TP53_g.12442C>G commonName C>G TP53_g.12442C>G protEffect p.Pro152Ala TP53_g.30017_30018ins1200 commonName ins1200 TP53_g.13391del commonName del1 TP53_g.11536C>T commonName C>T TP53_g.11536C>T protEffect p.Thr102Ile TP53_g.11580G>C commonName G>C TP53_g.11580G>C protEffect p.Gly117Arg TP53_g.11433G>C commonName G>C TP53_g.11433G>C protEffect p.Glu68Gln TP53_g.11543G>C commonName G>C TP53_g.11543G>C protEffect p.Gln104His TP53_g.12512_12513del commonName del2 TP53_g.13358T>A commonName T>A TP53_g.13358T>A protEffect p.Ser241Thr TP53_g.13833del commonName del1 TP53_g.13842del commonName del1 TP53_g.13356G>C commonName G>C TP53_g.13356G>C protEffect p.Ser240Thr TP53_g.13896del commonName del1 TP53_g.12461_12462delinsTT commonName GC>TT TP53_g.12461_12462delinsTT protEffect p.Arg158Leu TP53_g.12504T>G commonName T>G TP53_g.12504T>G protEffect p.Val172Val TP53_g.13726_13770del commonName del45 TP53_g.13410A>T commonName A>T TP53_g.13410A>T protEffect p.Glu258Val TP53_g.13786G>T commonName G>T TP53_g.13786G>T protEffect p.Ser269Ile TP53_g.13369C>T commonName C>T TP53_g.13369C>T protEffect p.Gly244Gly TP53_g.12402_12403ins4 commonName ins4 TP53_g.13788_13809del commonName del22 TP53_g.12463G>A commonName G>A TP53_g.12463G>A protEffect p.Ala159Thr TP53_g.30015_30022del commonName del8 TP53_g.30014_30015ins6 commonName ins6 TP53_g.30016_30017ins5 commonName ins5 TP53_g.12457G>A commonName G>A TP53_g.12457G>A protEffect p.Val157Ile TP53_g.12650T>A commonName T>A TP53_g.12650T>A protEffect p.Leu194His TP53_g.12666A>G commonName A>G TP53_g.12666A>G protEffect p.Gly199Gly TP53_g.13840A>G commonName A>G TP53_g.13840A>G protEffect p.Glu287Gly TP53_g.12474C>T commonName C>T TP53_g.12474C>T protEffect p.Ile162Ile TP53_g.14035A>G commonName A>G TP53_g.14035A>G protEffect p.Lys321Lys TP53_g.12509G>A commonName G>A TP53_g.12509G>A protEffect p.Arg174Lys TP53_g.12657A>G commonName A>G TP53_g.12657A>G protEffect p.Arg196Arg TP53_g.12644A>G commonName A>G TP53_g.12644A>G protEffect p.Gln192Arg TP53_g.12417G>A commonName G>A TP53_g.12417G>A protEffect p.Val143Val TP53_g.12453C>T commonName C>T TP53_g.12453C>T protEffect p.Thr155Thr TP53_g.12454del commonName del1 TP53_g.12635C>T commonName C>T TP53_g.12635C>T protEffect p.Ala189Val TP53_g.12709C>T commonName C>T TP53_g.12709C>T protEffect p.His214Tyr TP53_g.12451del commonName del1 TP53_g.12451_12452del commonName del2 TP53_g.13787C>T commonName C>T TP53_g.13787C>T protEffect p.Ser269Ser TP53_g.12371C>T commonName C>T TP53_g.12371C>T protEffect p.Pro128Leu TP53_g.12395A>G commonName A>G TP53_g.12395A>G protEffect p.Gln136Arg TP53_g.13797_13798delinsAA commonName CG>AA TP53_g.13797_13798delinsAA protEffect p.Arg273Asn TP53_g.13893del commonName del1 TP53_g.13812del commonName del1 TP53_g.13361T>G commonName T>G TP53_g.13361T>G protEffect p.Cys242Gly TP53_g.12454C>G commonName C>G TP53_g.12454C>G protEffect p.Arg156Gly TP53_g.12413C>T commonName C>T TP53_g.12413C>T protEffect p.Pro142Leu TP53_g.12376C>T commonName C>T TP53_g.12376C>T protEffect p.Leu130Phe TP53_g.13850C>G commonName C>G TP53_g.13850C>G protEffect p.Arg290Arg TP53_g.12493A>G commonName A>G TP53_g.12493A>G protEffect p.Met169Val TP53_g.12665G>C commonName G>C TP53_g.12665G>C protEffect p.Gly199Ala TP53_g.13366G>A commonName G>A TP53_g.13366G>A protEffect p.Met243Ile TP53_g.13867A>G commonName A>G TP53_g.13867A>G protEffect p.His296Arg TP53_g.13856A>G commonName A>G TP53_g.13856A>G protEffect p.Lys292Lys TP53_g.13791G>C commonName G>C TP53_g.13791G>C protEffect p.Glu271Gln TP53_g.13416C>T commonName C>T TP53_g.13416C>T protEffect p.Ser260Phe TP53_g.12445C>T commonName C>T TP53_g.12445C>T protEffect p.Pro153Ser TP53_g.12417del commonName del1 TP53_g.13873A>C commonName A>C TP53_g.13873A>C protEffect p.Glu298Ala TP53_g.12451A>C commonName A>C TP53_g.12451A>C protEffect p.Thr155Pro TP53_g.16895G>T commonName G>T TP53_g.16895G>T protEffect p.Arg335Leu TP53_g.16905C>T commonName C>T TP53_g.16905C>T protEffect p.Phe338Phe TP53_g.12481_12495del commonName del15 TP53_g.12456_12457delinsGT commonName CG>GT TP53_g.12456_12457delinsGT protEffect V157F TP53_g.12457del commonName del1 TP53_g.13351T>C commonName T>C TP53_g.13351T>C protEffect p.Cys238Cys TP53_g.12501G>A commonName G>A TP53_g.12501G>A protEffect p.Glu171Glu TP53_g.13351T>G commonName T>G TP53_g.13351T>G protEffect p.Cys238Trp TP53_g.13825del commonName del1 TP53_g.12631_12642del commonName del12 TP53_g.12708_12709ins1 commonName ins1 TP53_g.12716T>C commonName T>C TP53_g.12716T>C protEffect p.Val216Ala TP53_g.12721G>C commonName G>C TP53_g.12721G>C protEffect p.Val218Leu TP53_g.13810G>C commonName G>C TP53_g.13810G>C protEffect p.Cys277Ser TP53_g.13864C>T commonName C>T TP53_g.13864C>T protEffect p.Pro295Leu TP53_g.12547del commonName del1 TP53_g.13382_13387del commonName del6 TP53_g.12390_12391ins2 commonName ins2 TP53_g.13770_13772del commonName del3 TP53_g.12389T>G commonName T>G TP53_g.12389T>G protEffect p.Phe134Cys TP53_g.12444_12445ins9 commonName ins9 TP53_g.13360_13361ins4 commonName ins4 TP53_g.12505del commonName del1 TP53_g.12544del commonName del1 TP53_g.11327_11328ins1 commonName ins1 TP53_g.12485C>A commonName C>A TP53_g.12485C>A protEffect p.Ser166STOP TP53_g.12694A>C commonName A>C TP53_g.12694A>C protEffect p.Arg209Arg TP53_g.12499del commonName del1 TP53_g.12507_12508ins1 commonName ins1 TP53_g.12460_12461del commonName del2 TP53_g.12400_12402del commonName del3 TP53_g.13807C>G commonName C>G TP53_g.13807C>G protEffect p.Ala276Gly TP53_g.12458T>G commonName T>G TP53_g.12458T>G protEffect p.Val157Gly TP53_g.11580del commonName del1 TP53_g.12451_12458del commonName del8 TP53_g.13811T>A commonName T>A TP53_g.13811T>A protEffect p.Cys277STOP TP53_g.12721_12723del commonName del3 TP53_g.13417_13418ins4 commonName ins4 TP53_g.13393C>T commonName C>T TP53_g.13393C>T protEffect p.Leu252Leu TP53_g.13399C>T commonName C>T TP53_g.13399C>T protEffect p.Ile254Ile TP53_g.12664del commonName del1 TP53_g.13800del commonName del1 TP53_g.13768A>G commonName A>G TP53_g.13768A>G protEffect p.Asn263Ser TP53_g.13800G>A commonName G>A TP53_g.13800G>A protEffect p.Val274Ile TP53_g.13843A>G commonName A>G TP53_g.13843A>G protEffect p.Asn288Ser TP53_g.11430C>T commonName C>T TP53_g.11430C>T protEffect p.Pro67Ser TP53_g.12460_12467del commonName del8 TP53_g.11608T>C commonName T>C TP53_g.13862G>A commonName G>A TP53_g.13862G>A protEffect p.Glu294Glu TP53_g.12522_12523delinsAT commonName CC>AT TP53_g.12522_12523delinsAT protEffect H178Q;H179S] TP53_g.12495G>A commonName G>A TP53_g.12495G>A protEffect p.Met169Ile TP53_g.14048G>T commonName G>T TP53_g.14048G>T protEffect p.Glu326STOP TP53_g.11552C>G commonName C>G TP53_g.11552C>G protEffect p.Tyr107STOP TP53_g.11559C>G commonName C>G TP53_g.11559C>G protEffect p.Arg110Gly TP53_g.13991G>T commonName G>T TP53_g.12738_12739ins5 commonName ins5 TP53_g.12499_12544del commonName del46 TP53_g.13857_13858del commonName del2 TP53_g.13815G>C commonName G>C TP53_g.13815G>C protEffect p.Gly279Arg TP53_g.12490del commonName del1 TP53_g.11385C>T commonName C>T TP53_g.11385C>T protEffect p.Gln52STOP TP53_g.11508C>T commonName C>T TP53_g.11508C>T protEffect p.Leu93Leu TP53_g.12673C>T commonName C>T TP53_g.12673C>T protEffect p.Arg202Cys TP53_g.13420_13761del commonName del342(del intron7) TP53_g.12490C>T commonName C>T TP53_g.12490C>T protEffect p.His168Tyr TP53_g.13326C>T commonName C>T TP53_g.13326C>T protEffect p.Thr230Ile TP53_g.13320A>C commonName A>C TP53_g.13320A>C protEffect p.Asp228Ala TP53_g.13341A>T commonName A>T TP53_g.13341A>T protEffect p.Asn235Ile TP53_g.13327C>A commonName C>A TP53_g.13327C>A protEffect p.Thr230Thr TP53_g.13376A>T commonName A>T TP53_g.13376A>T protEffect p.Asn247Tyr TP53_g.13337_13339del commonName del3 TP53_g.11285_11360del commonName del76 TP53_g.12442del commonName del1 TP53_g.12457G>C commonName G>C TP53_g.12457G>C protEffect p.Val157Leu TP53_g.13391C>T commonName C>T TP53_g.13391C>T protEffect p.Leu252Phe TP53_g.12661G>C commonName G>C TP53_g.12661G>C protEffect p.Glu198Gln TP53_g.13381G>C commonName G>C TP53_g.13381G>C protEffect p.Arg248Arg TP53_g.13381G>A commonName G>A TP53_g.13381G>A protEffect p.Arg248Arg TP53_g.11557T>C commonName T>C TP53_g.11557T>C protEffect p.Phe109Ser TP53_g.12714T>G commonName T>G TP53_g.12714T>G protEffect p.Ser215Arg TP53_g.13792_13795del commonName del4 TP53_g.12651_12655del commonName del5 TP53_g.13818_13819delinsCC commonName AG>CC TP53_g.13818_13819delinsCC protEffect p.Arg280Pro TP53_g.12722T>G commonName T>G TP53_g.12722T>G protEffect p.Val218Gly TP53_g.12682T>A commonName T>A TP53_g.12682T>A protEffect p.Tyr205Asn TP53_g.13771del commonName del1 TP53_g.11482C>T commonName C>T TP53_g.11482C>T protEffect p.Ala84Val TP53_g.14063C>T commonName C>T TP53_g.14063C>T protEffect p.Gln331STOP TP53_g.11506C>T commonName C>T TP53_g.11506C>T protEffect p.Pro92Leu TP53_g.12669_12670ins1 commonName ins1 TP53_g.12520C>T commonName C>T TP53_g.12520C>T protEffect p.His178Tyr TP53_g.12672_12673delinsTT commonName GC>TT TP53_g.12672_12673delinsTT protEffect L201F;R202C] TP53_g.12675del commonName del1 TP53_g.11091C>T commonName C>T TP53_g.12734C>T commonName C>T TP53_g.12734C>T protEffect p.Pro222Leu TP53_g.12736del commonName del1 TP53_g.12406A>T commonName A>T TP53_g.12406A>T protEffect p.Thr140Ser TP53_g.12725C>T commonName C>T TP53_g.12725C>T protEffect p.Pro219Leu TP53_g.11597del commonName del1 TP53_g.12448_12462del commonName del15 TP53_g.12390_12391ins19 commonName ins19 TP53_g.12642_12643ins20 commonName ins20 TP53_g.13899G>T commonName G>T TP53_g.13899G>T protEffect p.Ala307Ser TP53_g.12727T>A commonName T>A TP53_g.12727T>A protEffect p.Tyr220Asn TP53_g.12561_12562ins1 commonName ins1 TP53_g.13834A>G commonName A>G TP53_g.13834A>G protEffect p.Glu285Gly TP53_g.14018C>A commonName C>A TP53_g.14018C>A protEffect p.Pro316Thr TP53_g.13911G>A commonName G>A TP53_g.11457_11508del commonName del52 TP53_g.12373_12378del commonName del6 TP53_g.14073G>A commonName G>A TP53_g.13790_13791ins2 commonName ins2 TP53_g.11464C>T commonName C>T TP53_g.11464C>T protEffect p.Ala78Val TP53_g.12503T>A commonName T>A TP53_g.12503T>A protEffect p.Val172Asp TP53_g.12628G>C commonName G>C TP53_g.13811_13812ins21 commonName ins21 TP53_g.13394A>T commonName A>T TP53_g.13394A>T protEffect p.Thr253Ser TP53_g.12693_12694ins1 commonName ins1 TP53_g.13387_13388ins5 commonName ins5 TP53_g.11457_11509del commonName del53 TP53_g.16985A>G commonName A>G TP53_g.16985A>G protEffect p.His365Arg TP53_g.12364_12366del commonName del3 TP53_g.16936G>T commonName G>T TP53_g.16936G>T protEffect p.Glu349STOP TP53_g.12655C>A commonName C>A TP53_g.12655C>A protEffect p.Arg196Arg TP53_g.13806G>T commonName G>T TP53_g.13806G>T protEffect p.Ala276Ser TP53_g.12676G>A commonName G>A TP53_g.12676G>A protEffect p.Val203Met TP53_g.13318T>G commonName T>G TP53_g.13318T>G protEffect p.Ser227Ser TP53_g.12526G>T commonName G>T TP53_g.12526G>T protEffect p.Glu180STOP TP53_g.12674G>A commonName G>A TP53_g.12674G>A protEffect p.Arg202His TP53_g.13827_13839del commonName del13 TP53_g.12703_12704del commonName del2 TP53_g.11581G>A commonName G>A TP53_g.11581G>A protEffect p.Gly117Glu TP53_g.13330C>T commonName C>T TP53_g.13330C>T protEffect p.Thr231Thr TP53_g.13378C>T commonName C>T TP53_g.13378C>T protEffect p.Asn247Asn TP53_g.12400_12409del commonName del10 TP53_g.12734C>A commonName C>A TP53_g.12734C>A protEffect p.Pro222Gln TP53_g.12691G>A commonName G>A TP53_g.12691G>A protEffect p.Asp208Asn TP53_g.12388del commonName del1 TP53_g.12695_12696del commonName del2 TP53_g.12700_12701ins1 commonName ins1 TP53_g.12387_12388ins8 commonName ins8 TP53_g.12492del commonName del1 TP53_g.13366del commonName del1 TP53_g.13793G>A commonName G>A TP53_g.13793G>A protEffect p.Glu271Glu TP53_g.12391_12402del commonName del12 TP53_g.12470C>T commonName C>T TP53_g.12470C>T protEffect p.Ala161Val TP53_g.12362A>G commonName A>G TP53_g.12422T>G commonName T>G TP53_g.12422T>G protEffect p.Leu145Arg TP53_g.13309G>C commonName G>C TP53_g.13331_13345del commonName del15 TP53_g.12509G>T commonName G>T TP53_g.12509G>T protEffect p.Arg174Met TP53_g.12505_12542del commonName del38 TP53_g.13794del commonName del1 TP53_g.12416T>A commonName T>A TP53_g.12416T>A protEffect p.Val143Glu TP53_g.13379del commonName del1 TP53_g.11600_11601ins1 commonName ins1 TP53_g.11415_11434del commonName del20 TP53_g.16906_16913del commonName del8 TP53_g.11607_11608ins1 commonName ins1 TP53_g.11378_11379ins1 commonName ins1 TP53_g.14009_14013del commonName del5 TP53_g.16897G>T commonName G>T TP53_g.16897G>T protEffect p.Glu336STOP TP53_g.13860G>A commonName G>A TP53_g.13860G>A protEffect p.Glu294Lys TP53_g.12471C>T commonName C>T TP53_g.12471C>T protEffect p.Ala161Ala TP53_g.12711_12712ins3 commonName ins3 TP53_g.30001_30002ins1 commonName ins1 TP53_g.12450C>T commonName C>T TP53_g.12450C>T protEffect p.Gly154Gly TP53_g.13859G>C commonName G>C TP53_g.13859G>C protEffect p.Gly293Gly TP53_g.12448G>A commonName G>A TP53_g.12448G>A protEffect p.Gly154Ser TP53_g.13345C>T commonName C>T TP53_g.13345C>T protEffect p.Tyr236Tyr TP53_g.13415delinsGC commonName T>GC TP53_g.12468G>A commonName G>A TP53_g.12468G>A protEffect p.Met160Ile TP53_g.14065G>T commonName G>T TP53_g.14065G>T protEffect p.Gln331His TP53_g.12476del commonName del1 TP53_g.13846_13847del commonName del2 TP53_g.13355A>T commonName A>T TP53_g.13355A>T protEffect p.Ser240Cys TP53_g.12524A>C commonName A>C TP53_g.12524A>C protEffect p.His179Pro TP53_g.12696_12701delinsCCCACACGCA commonName AAACAC>CCCACACGCA TP53_g.16963G>A commonName G>A TP53_g.16963G>A protEffect p.Glu358Lys TP53_g.14035del commonName del1 TP53_g.11447_11453del commonName del7 TP53_g.13850C>A commonName C>A TP53_g.13850C>A protEffect p.Arg290Arg TP53_g.11437C>G commonName C>G TP53_g.11437C>G protEffect p.Ala69Gly TP53_g.13337T>A commonName T>A TP53_g.13337T>A protEffect p.Tyr234Asn TP53_g.11410C>T commonName C>T TP53_g.11410C>T protEffect p.Pro60Leu TP53_g.13880C>A commonName C>A TP53_g.13880C>A protEffect p.Pro300Pro TP53_g.14022A>C commonName A>C TP53_g.14022A>C protEffect p.Gln317Pro TP53_g.13877G>C commonName G>C TP53_g.13877G>C protEffect p.Leu299Leu TP53_g.12741G>T commonName G>T TP53_g.12741G>T protEffect p.Glu224Asp TP53_g.12732G>C commonName G>C TP53_g.12732G>C protEffect p.Glu221Asp TP53_g.13314G>A commonName G>A TP53_g.13314G>A protEffect p.Gly226Asp TP53_g.12722T>A commonName T>A TP53_g.12722T>A protEffect p.Val218Glu TP53_g.12411C>A commonName C>A TP53_g.12411C>A protEffect p.Cys141STOP TP53_g.13321C>T commonName C>T TP53_g.13321C>T protEffect p.Asp228Asp TP53_g.13322_13336del commonName del15 TP53_g.13900G>C commonName G>C TP53_g.12508A>G commonName A>G TP53_g.12508A>G protEffect p.Arg174Gly TP53_g.13803_13812del commonName del10 TP53_g.12514_12523del commonName del10 TP53_g.13786G>C commonName G>C TP53_g.13786G>C protEffect p.Ser269Thr TP53_g.13376A>G commonName A>G TP53_g.13376A>G protEffect p.Asn247Asp TP53_g.13408del commonName del1 TP53_g.11400_11416del commonName del17 TP53_g.14042_14043delinsAG commonName GA>AG TP53_g.14042_14043delinsAG protEffect p.Asp324Ser TP53_g.11201del commonName del1 TP53_g.12472_12477del commonName del6 TP53_g.13808_13809ins1 commonName ins1 TP53_g.12456del commonName del1 TP53_g.13360_13364del commonName del5 TP53_g.12462del commonName del1 TP53_g.13393del commonName del1 TP53_g.13839_13852del commonName del14 TP53_g.13785_13788del commonName del4 TP53_g.13316_13317del commonName del2 TP53_g.13328_13329del commonName del2 TP53_g.11565_11571del commonName del7 TP53_g.11589del commonName del1 TP53_g.13388A>T commonName A>T TP53_g.13388A>T protEffect p.Ile251Phe TP53_g.12376C>A commonName C>A TP53_g.12376C>A protEffect p.Leu130Ile TP53_g.13765del commonName del1 TP53_g.13352del commonName del1 TP53_g.12682del commonName del1 TP53_g.12710A>C commonName A>C TP53_g.12710A>C protEffect p.His214Pro TP53_g.13879C>T commonName C>T TP53_g.13879C>T protEffect p.Pro300Leu TP53_g.12483G>A commonName G>A TP53_g.12483G>A protEffect p.Gln165Gln TP53_g.12684T>A commonName T>A TP53_g.12684T>A protEffect p.Tyr205STOP TP53_g.12651T>C commonName T>C TP53_g.12651T>C protEffect p.Leu194Leu TP53_g.12411_12412ins6 commonName ins6 TP53_g.13888G>A commonName G>A TP53_g.13888G>A protEffect p.Ser303Asn TP53_g.13874G>A commonName G>A TP53_g.13874G>A protEffect p.Glu298Glu TP53_g.12560G>A commonName G>A TP53_g.12457_12461del commonName del5 TP53_g.13408G>A commonName G>A TP53_g.13408G>A protEffect p.Leu257Leu TP53_g.13811T>C commonName T>C TP53_g.13811T>C protEffect p.Cys277Cys TP53_g.11347C>T commonName C>T TP53_g.11347C>T protEffect p.Ala39Val TP53_g.12672G>T commonName G>T TP53_g.12672G>T protEffect p.Leu201Phe TP53_g.12423_12424ins1 commonName ins1 TP53_g.11328T>A commonName T>A TP53_g.11328T>A protEffect p.Ser33Thr TP53_g.16945G>C commonName G>C TP53_g.16945G>C protEffect p.Asp352His TP53_g.12676G>T commonName G>T TP53_g.12676G>T protEffect p.Val203Leu TP53_g.12439_12440delinsAT commonName CC>AT TP53_g.12439_12440delinsAT protEffect p.Pro151His TP53_g.13765G>T commonName G>T TP53_g.13765G>T protEffect p.Gly262Val TP53_g.12475del commonName del1 TP53_g.12688_12717del commonName del30 TP53_g.12475_12485del commonName del11 TP53_g.11388T>G commonName T>G TP53_g.11388T>G protEffect p.Trp53Gly TP53_g.12391_12425del commonName del35 TP53_g.13319G>C commonName G>C TP53_g.13319G>C protEffect p.Asp228His TP53_g.11512C>T commonName C>T TP53_g.11512C>T protEffect p.Ser94Leu TP53_g.11520G>T commonName G>T TP53_g.11520G>T protEffect p.Val97Phe TP53_g.13779C>G commonName C>G TP53_g.13779C>G protEffect p.Arg267Gly TP53_g.13806G>A commonName G>A TP53_g.13806G>A protEffect p.Ala276Thr TP53_g.12391T>G commonName T>G TP53_g.12391T>G protEffect p.Cys135Gly TP53_g.12400G>A commonName G>A TP53_g.12400G>A protEffect p.Ala138Thr TP53_g.12406A>C commonName A>C TP53_g.12406A>C protEffect p.Thr140Pro TP53_g.13926G>C commonName G>C TP53_g.30016_30018del commonName del3 TP53_g.12534C>T commonName C>T TP53_g.12534C>T protEffect p.Cys182Cys TP53_g.13917G>C commonName G>C TP53_g.30016_30017del commonName del2 TP53_g.30017_30018ins2 commonName ins2 TP53_g.12489G>T commonName G>T TP53_g.12489G>T protEffect p.Gln167His TP53_g.11056A>T commonName A>T TP53_g.11056A>T protEffect p.Glu17Asp TP53_g.11077A>T commonName A>T TP53_g.11077A>T protEffect p.Lys24Asn TP53_g.13384_13385ins3 commonName ins3 TP53_g.12643_12645del commonName del3 TP53_g.14008C>A commonName C>A TP53_g.14008C>A protEffect p.Thr312Thr TP53_g.12387G>T commonName G>T TP53_g.12387G>T protEffect p.Met133Ile TP53_g.12735G>T commonName G>T TP53_g.12735G>T protEffect p.Pro222Pro TP53_g.13843A>C commonName A>C TP53_g.13843A>C protEffect p.Asn288Thr TP53_g.13774T>A commonName T>A TP53_g.13774T>A protEffect p.Leu265Gln TP53_g.13866C>G commonName C>G TP53_g.13866C>G protEffect p.His296Asp TP53_g.13322T>A commonName T>A TP53_g.13322T>A protEffect p.Cys229Ser TP53_g.13340A>T commonName A>T TP53_g.13340A>T protEffect p.Asn235Tyr TP53_g.11500C>T commonName C>T TP53_g.11500C>T protEffect p.Ser90Phe TP53_g.11564G>A commonName G>A TP53_g.11564G>A protEffect p.Leu111Leu TP53_g.11588C>T commonName C>T TP53_g.11588C>T protEffect p.Ala119Ala TP53_g.12386T>C commonName T>C TP53_g.12386T>C protEffect p.Met133Thr TP53_g.12409T>C commonName T>C TP53_g.12409T>C protEffect p.Cys141Arg TP53_g.12675T>C commonName T>C TP53_g.12675T>C protEffect p.Arg202Arg TP53_g.14049A>G commonName A>G TP53_g.14049A>G protEffect p.Glu326Gly TP53_g.11339G>T commonName G>T TP53_g.11339G>T protEffect p.Pro36Pro TP53_g.11434A>G commonName A>G TP53_g.11434A>G protEffect p.Glu68Gly TP53_g.11582G>T commonName G>T TP53_g.11582G>T protEffect p.Gly117Gly TP53_g.12423G>T commonName G>T TP53_g.12423G>T protEffect p.Leu145Leu TP53_g.12456C>A commonName C>A TP53_g.12456C>A protEffect p.Arg156Arg TP53_g.12713_12714delinsAA commonName GT>AA TP53_g.12713_12714delinsAA protEffect p.Ser215Lys TP53_g.14046G>A commonName G>A TP53_g.14046G>A protEffect p.Gly325Glu TP53_g.11565G>A commonName G>A TP53_g.11565G>A protEffect p.Gly112Ser TP53_g.12500A>G commonName A>G TP53_g.12500A>G protEffect p.Glu171Gly TP53_g.13996G>A commonName G>A TP53_g.13996G>A protEffect p.Leu308Leu TP53_g.11419C>T commonName C>T TP53_g.11419C>T protEffect p.Ala63Val TP53_g.11542A>T commonName A>T TP53_g.11542A>T protEffect p.Gln104Leu TP53_g.14034A>G commonName A>G TP53_g.14034A>G protEffect p.Lys321Arg TP53_g.11574C>T commonName C>T TP53_g.11574C>T protEffect p.His115Tyr TP53_g.12704T>C commonName T>C TP53_g.12704T>C protEffect p.Phe212Ser TP53_g.14054T>C commonName T>C TP53_g.14054T>C protEffect p.Phe328Leu TP53_g.11364C>T commonName C>T TP53_g.11364C>T protEffect p.Leu45Leu TP53_g.11579T>C commonName T>C TP53_g.11579T>C protEffect p.Ser116Ser TP53_g.12641C>G commonName C>G TP53_g.12641C>G protEffect p.Pro191Arg TP53_g.12409T>A commonName T>A TP53_g.12409T>A protEffect p.Cys141Ser TP53_g.13887A>T commonName A>T TP53_g.13887A>T protEffect p.Ser303Cys TP53_g.13341A>C commonName A>C TP53_g.13341A>C protEffect p.Asn235Thr TP53_g.12445_12461del commonName del17 TP53_g.12732G>T commonName G>T TP53_g.12732G>T protEffect p.Glu221Asp TP53_g.13785_13792del commonName del8 TP53_g.12467T>A commonName T>A TP53_g.12467T>A protEffect p.Met160Lys TP53_g.13842A>G commonName A>G TP53_g.13842A>G protEffect p.Asn288Asp TP53_g.13770C>T commonName C>T TP53_g.13770C>T protEffect p.Leu264Leu TP53_g.12462C>A commonName C>A TP53_g.12462C>A protEffect p.Arg158Arg TP53_g.12695G>T commonName G>T TP53_g.12695G>T protEffect p.Arg209Ile TP53_g.13371_13372delinsTA commonName GC>TA TP53_g.13371_13372delinsTA protEffect p.Gly245Val TP53_g.13384_13385delinsTG commonName GC>TG TP53_g.13384_13385delinsTG protEffect R249S;P250A] TP53_g.13383_13384delinsTT commonName GG>TT TP53_g.13383_13384delinsTT protEffect p.Arg249Ile TP53_g.12454_12463del commonName del10 TP53_g.12490_12491delinsGT commonName CA>GT TP53_g.12490_12491delinsGT protEffect p.His168Val TP53_g.11539_11565del commonName del27 TP53_g.13376_13381del commonName del6 TP53_g.13415del commonName del1 TP53_g.12437C>A commonName C>A TP53_g.12437C>A protEffect p.Thr150Lys TP53_g.13367del commonName del1 TP53_g.12731A>G commonName A>G TP53_g.12731A>G protEffect p.Glu221Gly TP53_g.13367G>C commonName G>C TP53_g.13367G>C protEffect p.Gly244Arg TP53_g.13397del commonName del1 TP53_g.13349del commonName del1 TP53_g.11460C>G commonName C>G TP53_g.11460C>G protEffect p.Pro77Ala TP53_g.12535T>C commonName T>C TP53_g.12535T>C protEffect p.Ser183Pro TP53_g.12638_12639ins1 commonName ins1 TP53_g.12420G>C commonName G>C TP53_g.12420G>C protEffect p.Gln144His TP53_g.12735G>C commonName G>C TP53_g.12735G>C protEffect p.Pro222Pro TP53_g.13884del commonName del1 TP53_g.13706A>G commonName A>G TP53_g.12418del commonName del1 TP53_g.12558G>T commonName G>T TP53_g.12484T>G commonName T>G TP53_g.12484T>G protEffect p.Ser166Ala TP53_g.12584T>G commonName T>G TP53_g.12656G>T commonName G>T TP53_g.12656G>T protEffect p.Arg196Leu TP53_g.13795T>G commonName T>G TP53_g.13795T>G protEffect p.Val272Gly TP53_g.11390G>C commonName G>C TP53_g.11390G>C protEffect p.Trp53Cys TP53_g.13781G>A commonName G>A TP53_g.13781G>A protEffect p.Arg267Arg TP53_g.11397G>A commonName G>A TP53_g.11397G>A protEffect p.Glu56Lys TP53_g.12405G>A commonName G>A TP53_g.12405G>A protEffect p.Lys139Lys TP53_g.14025C>T commonName C>T TP53_g.14025C>T protEffect p.Pro318Leu TP53_g.12408C>T commonName C>T TP53_g.12408C>T protEffect p.Thr140Thr TP53_g.12419A>T commonName A>T TP53_g.12419A>T protEffect p.Gln144Leu TP53_g.30014_30015ins42 commonName ins42 TP53_g.12514_12532del commonName del19 TP53_g.13820A>G commonName A>G TP53_g.13820A>G protEffect p.Arg280Arg TP53_g.12485_12486ins1 commonName ins1 TP53_g.11563T>C commonName T>C TP53_g.11563T>C protEffect p.Leu111Pro TP53_g.12472_12473ins1 commonName ins1 TP53_g.12367T>C commonName T>C TP53_g.12367T>C protEffect p.Ser127Pro TP53_g.12650_12651del commonName del2 TP53_g.13395_13396ins1 commonName ins1 TP53_g.13370del commonName del1 TP53_g.12631del commonName del1 TP53_g.13324T>C commonName T>C TP53_g.13324T>C protEffect p.Cys229Cys TP53_g.12667A>G commonName A>G TP53_g.12667A>G protEffect p.Asn200Asp TP53_g.13824_13825delinsTA commonName CG>TA TP53_g.13824_13825delinsTA protEffect R282X TP53_g.12456_12457ins6 commonName ins6 TP53_g.12691_12706del commonName del16 TP53_g.13829_13830ins2 commonName ins2 TP53_g.12524del commonName del1 TP53_g.13325_13326ins1 commonName ins1 TP53_g.13805T>A commonName T>A TP53_g.13805T>A protEffect p.Cys275STOP TP53_g.16966del commonName del1 TP53_g.13373del commonName del1 TP53_g.12672_12673ins1 commonName ins1 TP53_g.12473T>A commonName T>A TP53_g.12473T>A protEffect p.Ile162Asn TP53_g.12733_12741del commonName del9 TP53_g.12433T>A commonName T>A TP53_g.12433T>A protEffect p.Ser149Thr TP53_g.12679_12699del commonName del21 TP53_g.12368C>A commonName C>A TP53_g.12368C>A protEffect p.Ser127Tyr TP53_g.13846T>C commonName T>C TP53_g.13846T>C protEffect p.Leu289Pro TP53_g.13418A>G commonName A>G TP53_g.13418A>G protEffect p.Ser261Gly TP53_g.12455G>A commonName G>A TP53_g.12455G>A protEffect p.Arg156His TP53_g.13785A>G commonName A>G TP53_g.13785A>G protEffect p.Ser269Gly TP53_g.12391del commonName del1 TP53_g.13814del commonName del1 TP53_g.12718_12731del commonName del14 TP53_g.13331_13336del commonName del6 TP53_g.13352_13362del commonName del11 TP53_g.13836G>C commonName G>C TP53_g.13836G>C protEffect p.Glu286Gln TP53_g.12715G>C commonName G>C TP53_g.12715G>C protEffect p.Val216Leu TP53_g.12484T>A commonName T>A TP53_g.12484T>A protEffect p.Ser166Thr TP53_g.12648T>C commonName T>C TP53_g.12648T>C protEffect p.His193His TP53_g.12466A>C commonName A>C TP53_g.12466A>C protEffect p.Met160Leu TP53_g.12705T>A commonName T>A TP53_g.12705T>A protEffect p.Phe212Leu TP53_g.12660G>A commonName G>A TP53_g.12660G>A protEffect p.Val197Val TP53_g.13364A>G commonName A>G TP53_g.13364A>G protEffect p.Met243Val TP53_g.12482A>C commonName A>C TP53_g.12482A>C protEffect p.Gln165Pro TP53_g.13396C>T commonName C>T TP53_g.13396C>T protEffect p.Thr253Thr TP53_g.12718_12720delinsATA commonName GTG>ATA TP53_g.12718_12720delinsATA protEffect V217I TP53_g.11368_11369del commonName del2 TP53_g.12540_12541del commonName del2 TP53_g.12490_12496del commonName del7 TP53_g.12513_12514delinsTA commonName CT>TA TP53_g.12513_12514delinsTA protEffect C176S TP53_g.12381_12382ins2 commonName ins2 TP53_g.13342_13343ins1 commonName ins1 TP53_g.13931G>A commonName G>A TP53_g.13824C>A commonName C>A TP53_g.13824C>A protEffect p.Arg282Arg TP53_g.13897G>C commonName G>C TP53_g.13897G>C protEffect p.Arg306Pro TP53_g.13857G>C commonName G>C TP53_g.13857G>C protEffect p.Gly293Arg TP53_g.12488A>T commonName A>T TP53_g.12488A>T protEffect p.Gln167Leu TP53_g.12431A>C commonName A>C TP53_g.12431A>C protEffect p.Asp148Ala TP53_g.12450_12451ins2 commonName ins2 TP53_g.13385C>A commonName C>A TP53_g.13385C>A protEffect p.Pro250Thr TP53_g.11475_11482del commonName del8 TP53_g.12379A>T commonName A>T TP53_g.12379A>T protEffect p.Asn131Tyr TP53_g.11398A>T commonName A>T TP53_g.11398A>T protEffect p.Glu56Val TP53_g.11451_11461del commonName del11 TP53_g.11585A>G commonName A>G TP53_g.11585A>G protEffect p.Thr118Thr TP53_g.12549T>G commonName T>G TP53_g.12551A>T commonName A>T TP53_g.12540T>C commonName T>C TP53_g.12540T>C protEffect p.Asp184Asp TP53_g.12496A>C commonName A>C TP53_g.12496A>C protEffect p.Thr170Pro TP53_g.12492C>T commonName C>T TP53_g.12492C>T protEffect p.His168His TP53_g.16913T>G commonName T>G TP53_g.16913T>G protEffect p.Phe341Cys TP53_g.13361del commonName del1 TP53_g.13764_13766del commonName del3 TP53_g.16970G>T commonName G>T TP53_g.16970G>T protEffect p.Gly360Val TP53_g.13405_13406ins1 commonName ins1 TP53_g.12388T>A commonName T>A TP53_g.12388T>A protEffect p.Phe134Ile TP53_g.13767del commonName del1 TP53_g.13899del commonName del1 TP53_g.13418del commonName del1 TP53_g.13421_13430del commonName del10 TP53_g.12454_12455del commonName del2 TP53_g.13370_13371delinsCT commonName GG>CT TP53_g.13370_13371delinsCT protEffect p.Gly245Leu TP53_g.12672G>A commonName G>A TP53_g.12672G>A protEffect p.Leu201Leu TP53_g.12478_12484del commonName del7 TP53_g.13399_13400ins1 commonName ins1 TP53_g.12697_12703del commonName del7 TP53_g.12675_12676ins2 commonName ins2 TP53_g.13384_13385ins5 commonName ins5 TP53_g.13334_13339del commonName del6 TP53_g.12436_12448del commonName del13 TP53_g.13375_13376ins1 commonName ins1 TP53_g.12498_12499ins2 commonName ins2 TP53_g.13796_13797ins1 commonName ins1 TP53_g.13848_13852del commonName del5 TP53_g.12689A>G commonName A>G TP53_g.12689A>G protEffect p.Asp207Gly TP53_g.12523del commonName del1 TP53_g.13823_13824ins6 commonName ins6 TP53_g.12698A>T commonName A>T TP53_g.12698A>T protEffect p.Asn210Ile TP53_g.12663A>T commonName A>T TP53_g.12663A>T protEffect p.Glu198Asp TP53_g.13797_13798del commonName del2 TP53_g.13832A>T commonName A>T TP53_g.13832A>T protEffect p.Thr284Thr TP53_g.13317C>T commonName C>T TP53_g.13317C>T protEffect p.Ser227Phe TP53_g.12691G>T commonName G>T TP53_g.12691G>T protEffect p.Asp208Tyr TP53_g.12468G>C commonName G>C TP53_g.12468G>C protEffect p.Met160Ile TP53_g.13319G>A commonName G>A TP53_g.13319G>A protEffect p.Asp228Asn TP53_g.12420G>A commonName G>A TP53_g.12420G>A protEffect p.Gln144Gln TP53_g.12701C>A commonName C>A TP53_g.12701C>A protEffect p.Thr211Asn TP53_g.13403A>T commonName A>T TP53_g.13403A>T protEffect p.Thr256Ser TP53_g.13866_13889del commonName del24 TP53_g.12433T>C commonName T>C TP53_g.12433T>C protEffect p.Ser149Pro TP53_g.13797_13800del commonName del4 TP53_g.13890A>G commonName A>G TP53_g.13890A>G protEffect p.Thr304Ala TP53_g.13854A>C commonName A>C TP53_g.13854A>C protEffect p.Lys292Gln TP53_g.13790T>A commonName T>A TP53_g.13790T>A protEffect p.Phe270Leu TP53_g.11476C>T commonName C>T TP53_g.11476C>T protEffect p.Pro82Leu TP53_g.13779_13787del commonName del9 TP53_g.12721G>T commonName G>T TP53_g.12721G>T protEffect p.Val218Leu TP53_g.13331del commonName del1 TP53_g.12702del commonName del1 TP53_g.12470del commonName del1 TP53_g.13901T>A commonName T>A TP53_g.12378C>G commonName C>G TP53_g.12378C>G protEffect p.Leu130Leu TP53_g.12437C>T commonName C>T TP53_g.12437C>T protEffect p.Thr150Ile TP53_g.12430G>T commonName G>T TP53_g.12430G>T protEffect p.Asp148Tyr TP53_g.12367del commonName del1 TP53_g.12434C>T commonName C>T TP53_g.12434C>T protEffect p.Ser149Phe TP53_g.13833G>T commonName G>T TP53_g.13833G>T protEffect p.Glu285STOP TP53_g.13325_13335del commonName del11 TP53_g.13394_13397del commonName del4 TP53_g.13388_13396del commonName del9 TP53_g.13414C>A commonName C>A TP53_g.13414C>A protEffect p.Asp259Glu TP53_g.13409_13415del commonName del7 TP53_g.12737C>A commonName C>A TP53_g.12737C>A protEffect p.Pro223His TP53_g.12487_12489del commonName del3 TP53_g.12469del commonName del1 TP53_g.12513C>G commonName C>G TP53_g.12513C>G protEffect p.Arg175Arg TP53_g.12415_12446del commonName del32 TP53_g.12679_12703del commonName del25 TP53_g.11436del commonName del1 TP53_g.11391_11403del commonName del13 TP53_g.11547_11561del commonName del15 TP53_g.12711_12712ins1 commonName ins1 TP53_g.13315C>T commonName C>T TP53_g.13315C>T protEffect p.Gly226Gly TP53_g.12720G>A commonName G>A TP53_g.12720G>A protEffect p.Val217Val TP53_g.12723G>A commonName G>A TP53_g.12723G>A protEffect p.Val218Val TP53_g.12714T>C commonName T>C TP53_g.12714T>C protEffect p.Ser215Ser TP53_g.11484C>T commonName C>T TP53_g.11484C>T protEffect p.Pro85Ser TP53_g.11496C>T commonName C>T TP53_g.11496C>T protEffect p.Pro89Ser TP53_g.11533A>G commonName A>G TP53_g.11533A>G protEffect p.Lys101Arg TP53_g.12382_12383delinsTG commonName AA>TG TP53_g.12382_12383delinsTG protEffect p.Lys132Trp TP53_g.11368C>T commonName C>T TP53_g.11368C>T protEffect p.Ser46Phe TP53_g.11595G>T commonName G>T TP53_g.11595G>T protEffect p.Val122Leu TP53_g.11540C>T commonName C>T TP53_g.11540C>T protEffect p.Tyr103Tyr TP53_g.13835G>A commonName G>A TP53_g.13835G>A protEffect p.Glu285Glu TP53_g.13857G>A commonName G>A TP53_g.13857G>A protEffect p.Gly293Arg TP53_g.11546C>T commonName C>T TP53_g.11546C>T protEffect p.Gly105Gly TP53_g.11554G>A commonName G>A TP53_g.11554G>A protEffect p.Gly108Asp TP53_g.12733C>T commonName C>T TP53_g.12733C>T protEffect p.Pro222Ser TP53_g.13765G>A commonName G>A TP53_g.13765G>A protEffect p.Gly262Asp TP53_g.13802T>C commonName T>C TP53_g.13802T>C protEffect p.Val274Val TP53_g.13821_13823delinsCGG commonName GAC>CGG TP53_g.13821_13823delinsCGG protEffect D281R TP53_g.16980G>A commonName G>A TP53_g.16980G>A protEffect p.Arg363Arg TP53_g.13315_13316ins1 commonName ins1 TP53_g.13338A>T commonName A>T TP53_g.13338A>T protEffect p.Tyr234Phe TP53_g.13343_13348del commonName del6 TP53_g.12448_12454del commonName del7 TP53_g.14066_14068delinsC commonName GTA>C TP53_g.13827_13828del commonName del2 TP53_g.12517_12533del commonName del17 TP53_g.12533G>C commonName G>C TP53_g.12533G>C protEffect p.Cys182Ser TP53_g.12508_12534del commonName del27 TP53_g.13357_13358del commonName del2 TP53_g.13776_13784del commonName del9 TP53_g.13340_13346del commonName del7 TP53_g.12507_12508ins12 commonName ins12 TP53_g.13352_13363del commonName del12 TP53_g.13899_13911del commonName del13 TP53_g.11569T>G commonName T>G TP53_g.11569T>G protEffect p.Phe113Cys TP53_g.11430del commonName del1 TP53_g.13400del commonName del1 TP53_g.13055_14754del commonName del exon5-9 TP53_g.12712A>T commonName A>T TP53_g.12712A>T protEffect p.Ser215Cys TP53_g.12429del commonName del1 TP53_g.14452_14588del commonName del exon8 TP53_g.12451_12471del commonName del21 TP53_g.12475_12483del commonName del9 TP53_g.13320_13432del commonName del exon6 TP53_g.11484_11500del commonName del17 TP53_g.11406_11605del commonName del200 TP53_g.13841G>C commonName G>C TP53_g.13841G>C protEffect p.Glu287Asp TP53_g.12739G>A commonName G>A TP53_g.12739G>A protEffect p.Glu224Lys TP53_g.13764_13786del commonName del23 TP53_g.13770C>A commonName C>A TP53_g.13770C>A protEffect p.Leu264Ile TP53_g.11447_11646del commonName del200 TP53_g.16935G>T commonName G>T TP53_g.16935G>T protEffect p.Leu348Phe TP53_g.12495_12496ins3 commonName ins3 TP53_g.11572T>A commonName T>A TP53_g.11572T>A protEffect p.Leu114STOP TP53_g.12444_12445ins1 commonName ins1 TP53_g.16981G>A commonName G>A TP53_g.16981G>A protEffect p.Ala364Thr TP53_g.13310_13315del commonName del6 TP53_g.11451del commonName del1 TP53_g.12451_12456del commonName del6 TP53_g.11427_11434del commonName del8 TP53_g.13403_13409del commonName del7 TP53_g.16918G>T commonName G>T TP53_g.16918G>T protEffect p.Glu343STOP TP53_g.17572_17678del commonName del exon10 TP53_g.11601T>C commonName T>C TP53_g.11601T>C protEffect p.Cys124Arg TP53_g.11441_11442ins4 commonName ins4 TP53_g.12370del commonName del1 TP53_g.11382del commonName del1 TP53_g.12498G>A commonName G>A TP53_g.12498G>A protEffect p.Thr170Thr TP53_g.12436_12441del commonName del6 TP53_g.11484_11497del commonName del14 TP53_g.12653T>A commonName T>A TP53_g.12653T>A protEffect p.Ile195Asn TP53_g.14012_14030del commonName del19 TP53_g.14681_14754del commonName del exon9 TP53_g.13386_13387delinsTT commonName CC>TT TP53_g.13386_13387delinsTT protEffect p.Pro250Leu TP53_g.12493del commonName del1 TP53_g.12532T>C commonName T>C TP53_g.12532T>C protEffect p.Cys182Arg TP53_g.12442C>A commonName C>A TP53_g.12442C>A protEffect p.Pro152Thr TP53_g.12469_12471delinsACT commonName GCC>ACT TP53_g.12469_12471delinsACT protEffect A161T TP53_g.12379A>G commonName A>G TP53_g.12379A>G protEffect p.Asn131Asp TP53_g.13869_13871del commonName del3 TP53_g.13322_13340del commonName del19 TP53_g.13782_13785del commonName del4 TP53_g.12339_12340ins1 commonName ins1 TP53_g.13326del commonName del1 TP53_g.11198del commonName del1 TP53_g.12548G>T commonName G>T TP53_g.14067T>C commonName T>C TP53_g.12362A>T commonName A>T TP53_g.12545A>T commonName A>T TP53_g.12545A>T protEffect p.Asp186Val TP53_g.12710del commonName del1 TP53_g.12645G>A commonName G>A TP53_g.12645G>A protEffect p.Gln192Gln TP53_g.13818A>C commonName A>C TP53_g.13818A>C protEffect p.Arg280Arg TP53_g.11363G>T commonName G>T TP53_g.11363G>T protEffect p.Met44Ile TP53_g.13344A>C commonName A>C TP53_g.13344A>C protEffect p.Tyr236Ser TP53_g.13365T>C commonName T>C TP53_g.13365T>C protEffect p.Met243Thr TP53_g.13893A>G commonName A>G TP53_g.13893A>G protEffect p.Lys305Glu TP53_g.12481C>G commonName C>G TP53_g.12481C>G protEffect p.Gln165Glu TP53_g.12517_12518delinsAT commonName CC>AT TP53_g.12517_12518delinsAT protEffect p.Pro177Ile TP53_g.13406del commonName del1 TP53_g.13766_13767ins5 commonName ins5 TP53_g.13818del commonName del1 TP53_g.12517_12525del commonName del9 TP53_g.13412_13413ins1 commonName ins1 TP53_g.13892T>G commonName T>G TP53_g.13892T>G protEffect p.Thr304Thr TP53_g.12522C>T commonName C>T TP53_g.12522C>T protEffect p.His178His TP53_g.12497C>A commonName C>A TP53_g.12497C>A protEffect p.Thr170Lys TP53_g.12706C>G commonName C>G TP53_g.12706C>G protEffect p.Arg213Gly TP53_g.13837A>T commonName A>T TP53_g.13837A>T protEffect p.Glu286Val TP53_g.12479A>G commonName A>G TP53_g.12479A>G protEffect p.Lys164Arg TP53_g.12421C>G commonName C>G TP53_g.12421C>G protEffect p.Leu145Val TP53_g.13331A>G commonName A>G TP53_g.13331A>G protEffect p.Ile232Val TP53_g.13860G>C commonName G>C TP53_g.13860G>C protEffect p.Glu294Gln TP53_g.12425G>T commonName G>T TP53_g.12425G>T protEffect p.Trp146Leu TP53_g.13407T>G commonName T>G TP53_g.13407T>G protEffect p.Leu257Arg TP53_g.11036G>A commonName G>A TP53_g.11036G>A protEffect p.Glu11Lys TP53_g.12548G>C commonName G>C TP53_g.13385_13391del commonName del7 TP53_g.12666_12667ins1 commonName ins1 TP53_g.11503G>A commonName G>A TP53_g.11503G>A protEffect p.Trp91STOP TP53_g.11446del commonName del1 TP53_g.13319_13320del commonName del2 TP53_g.12720G>C commonName G>C TP53_g.12720G>C protEffect p.Val217Val TP53_g.13875del commonName del1 TP53_g.12539_12540del commonName del2 TP53_g.12634G>A commonName G>A TP53_g.12634G>A protEffect p.Ala189Thr TP53_g.12716del commonName del1 TP53_g.13786G>A commonName G>A TP53_g.13786G>A protEffect p.Ser269Asn TP53_g.12470C>G commonName C>G TP53_g.12470C>G protEffect p.Ala161Gly TP53_g.11393_11394ins1 commonName ins1 TP53_g.11390G>A commonName G>A TP53_g.11390G>A protEffect p.Trp53STOP TP53_g.13399del commonName del1 TP53_g.13816_13817delinsAA commonName GG>AA TP53_g.13816_13817delinsAA protEffect p.Gly279Glu TP53_g.12490_12499del commonName del10 TP53_g.12445_12449del commonName del5 TP53_g.12724C>A commonName C>A TP53_g.12724C>A protEffect p.Pro219Thr TP53_g.12730G>A commonName G>A TP53_g.12730G>A protEffect p.Glu221Lys TP53_g.14009_14040del commonName del32 TP53_g.13797_13805del commonName del9 TP53_g.12715del commonName del1 TP53_g.13779del commonName del1 TP53_g.12686T>A commonName T>A TP53_g.12686T>A protEffect p.Leu206STOP TP53_g.13321C>A commonName C>A TP53_g.13321C>A protEffect p.Asp228Glu TP53_g.12547G>C commonName G>C TP53_g.12547G>C protEffect p.Gly187Arg TP53_g.13415_13416del commonName del2 TP53_g.12403A>C commonName A>C TP53_g.12403A>C protEffect p.Lys139Gln TP53_g.11518C>T commonName C>T TP53_g.11518C>T protEffect p.Ser96Phe TP53_g.13372C>A commonName C>A TP53_g.13372C>A protEffect p.Gly245Gly TP53_g.13856_13857ins1 commonName ins1 TP53_g.12740A>T commonName A>T TP53_g.12740A>T protEffect p.Glu224Val TP53_g.12460_12466del commonName del7 TP53_g.11547_11549del commonName del3 TP53_g.12487C>A commonName C>A TP53_g.12487C>A protEffect p.Gln167Lys TP53_g.12500A>T commonName A>T TP53_g.12500A>T protEffect p.Glu171Val TP53_g.13333C>A commonName C>A TP53_g.13333C>A protEffect p.Ile232Ile TP53_g.12726C>G commonName C>G TP53_g.12726C>G protEffect p.Pro219Pro TP53_g.13326C>A commonName C>A TP53_g.13326C>A protEffect p.Thr230Asn TP53_g.12687G>C commonName G>C TP53_g.12687G>C protEffect p.Leu206Phe TP53_g.13385_13393del commonName del9 TP53_g.13882del commonName del1 TP53_g.13354C>G commonName C>G TP53_g.13354C>G protEffect p.Asn239Lys TP53_g.13790T>G commonName T>G TP53_g.13790T>G protEffect p.Phe270Leu TP53_g.12399G>T commonName G>T TP53_g.12399G>T protEffect p.Leu137Leu TP53_g.12423G>C commonName G>C TP53_g.12423G>C protEffect p.Leu145Leu TP53_g.12424T>C commonName T>C TP53_g.12424T>C protEffect p.Trp146Arg TP53_g.12637C>A commonName C>A TP53_g.12637C>A protEffect p.Pro190Thr TP53_g.13409_13410delinsTT commonName GA>TT TP53_g.13409_13410delinsTT protEffect p.Glu258Leu TP53_g.11511del commonName del1 TP53_g.12390T>G commonName T>G TP53_g.12390T>G protEffect p.Phe134Leu TP53_g.13342_13343ins4 commonName ins4 TP53_g.11552C>A commonName C>A TP53_g.11552C>A protEffect p.Tyr107STOP TP53_g.30002del commonName del1 TP53_g.12403del commonName del1 TP53_g.13387_13388ins3 commonName ins3 TP53_g.13364del commonName del1 TP53_g.13895G>T commonName G>T TP53_g.13895G>T protEffect p.Lys305Asn TP53_g.13803T>A commonName T>A TP53_g.13803T>A protEffect p.Cys275Ser TP53_g.13372C>G commonName C>G TP53_g.13372C>G protEffect p.Gly245Gly TP53_g.13767A>G commonName A>G TP53_g.13767A>G protEffect p.Asn263Asp TP53_g.13851A>C commonName A>C TP53_g.13851A>C protEffect p.Lys291Gln TP53_g.13885G>C commonName G>C TP53_g.13885G>C protEffect p.Gly302Ala TP53_g.13352A>T commonName A>T TP53_g.13352A>T protEffect p.Asn239Tyr TP53_g.13826G>T commonName G>T TP53_g.13826G>T protEffect p.Arg282Arg TP53_g.13854_13855delinsGG commonName AA>GG TP53_g.13854_13855delinsGG protEffect p.Lys292Gly TP53_g.13859G>T commonName G>T TP53_g.13859G>T protEffect p.Gly293Gly TP53_g.13872G>C commonName G>C TP53_g.13872G>C protEffect p.Glu298Gln TP53_g.13874G>T commonName G>T TP53_g.13874G>T protEffect p.Glu298Asp TP53_g.13837_13838delinsGT commonName AA>GT TP53_g.13837_13838delinsGT protEffect p.Glu286Gly TP53_g.16951C>G commonName C>G TP53_g.16951C>G protEffect p.Gln354Glu TP53_g.13876T>A commonName T>A TP53_g.13876T>A protEffect p.Leu299Gln TP53_g.17988_17989ins20 commonName ins20 TP53_g.11504_11505ins1 commonName ins1 TP53_g.12364T>G commonName T>G TP53_g.12364T>G protEffect p.Tyr126Asp TP53_g.13395C>A commonName C>A TP53_g.13395C>A protEffect p.Thr253Asn TP53_g.13309_13310ins4 commonName ins4 TP53_g.13352A>C commonName A>C TP53_g.13352A>C protEffect p.Asn239His TP53_g.13386C>A commonName C>A TP53_g.13386C>A protEffect p.Pro250His TP53_g.13394A>G commonName A>G TP53_g.13394A>G protEffect p.Thr253Ala TP53_g.12549T>C commonName T>C TP53_g.12370_12406del commonName del37 TP53_g.12516C>A commonName C>A TP53_g.12516C>A protEffect p.Cys176STOP TP53_g.12520_12521ins2 commonName ins2 TP53_g.12482_12483ins1 commonName ins1 TP53_g.12405G>T commonName G>T TP53_g.12405G>T protEffect p.Lys139Asn TP53_g.12452C>T commonName C>T TP53_g.12452C>T protEffect p.Thr155Ile TP53_g.12387G>A commonName G>A TP53_g.12387G>A protEffect p.Met133Ile TP53_g.13384G>A commonName G>A TP53_g.13384G>A protEffect p.Arg249Arg TP53_g.12401C>A commonName C>A TP53_g.12401C>A protEffect p.Ala138Asp TP53_g.13872_13885del commonName del14 TP53_g.12697A>G commonName A>G TP53_g.12697A>G protEffect p.Asn210Asp TP53_g.12697A>C commonName A>C TP53_g.12697A>C protEffect p.Asn210His TP53_g.11577T>C commonName T>C TP53_g.11577T>C protEffect p.Ser116Pro TP53_g.12367T>A commonName T>A TP53_g.12367T>A protEffect p.Ser127Thr TP53_g.12649C>A commonName C>A TP53_g.12649C>A protEffect p.Leu194Ile TP53_g.16916G>A commonName G>A TP53_g.16916G>A protEffect p.Arg342Gln TP53_g.12364_12554del commonName del191 TP53_g.11589_11637del commonName del49 TP53_g.13764G>T commonName G>T TP53_g.13764G>T protEffect p.Gly262Cys TP53_g.11576T>C commonName T>C TP53_g.11576T>C protEffect p.His115His TP53_g.13346A>T commonName A>T TP53_g.13346A>T protEffect p.Met237Leu TP53_g.11586G>A commonName G>A TP53_g.11586G>A protEffect p.Ala119Thr TP53_g.17940C>A commonName C>A TP53_g.17940C>A protEffect p.Thr377Thr TP53_g.12385_12545del commonName del161 TP53_g.16901G>T commonName G>T TP53_g.16901G>T protEffect p.Arg337Leu TP53_g.12696A>G commonName A>G TP53_g.12696A>G protEffect p.Arg209Arg TP53_g.11556T>C commonName T>C TP53_g.11556T>C protEffect p.Phe109Leu TP53_g.12630T>C commonName T>C TP53_g.12630T>C protEffect p.Gly187Gly TP53_g.12510G>A commonName G>A TP53_g.12510G>A protEffect p.Arg174Arg TP53_g.13346_13348del commonName del3 TP53_g.12430del commonName del1 TP53_g.12634del commonName del1 TP53_g.13798_13799delinsAG commonName GT>AG TP53_g.13798_13799delinsAG protEffect p.Arg273Gln TP53_g.11219G>T commonName G>T TP53_g.12661del commonName del1 TP53_g.11589_11605del commonName del17 TP53_g.12453_12454ins1 commonName ins1 TP53_g.12436_12437del commonName del2 TP53_g.13316T>A commonName T>A TP53_g.13316T>A protEffect p.Ser227Thr TP53_g.13403_13406del commonName del4 TP53_g.13387C>G commonName C>G TP53_g.13387C>G protEffect p.Pro250Pro TP53_g.13788del commonName del1 TP53_g.13996_13997ins1 commonName ins1 TP53_g.13829C>A commonName C>A TP53_g.13829C>A protEffect p.Arg283Arg TP53_g.13852A>C commonName A>C TP53_g.13852A>C protEffect p.Lys291Thr TP53_g.14014C>T commonName C>T TP53_g.14014C>T protEffect p.Ser314Ser TP53_g.13384del commonName del1 TP53_g.13377A>G commonName A>G TP53_g.13377A>G protEffect p.Asn247Ser TP53_g.12412C>G commonName C>G TP53_g.12412C>G protEffect p.Pro142Ala TP53_g.13827_13853del commonName del27 TP53_g.12478_12487del commonName del10 TP53_g.12538del commonName del1 TP53_g.13796G>A commonName G>A TP53_g.13796G>A protEffect p.Val272Val TP53_g.13853G>C commonName G>C TP53_g.13853G>C protEffect p.Lys291Asn TP53_g.12428_12429delinsAA commonName TT>AA TP53_g.12428_12429delinsAA protEffect p.Val147Glu TP53_g.13833_13834del commonName del2 TP53_g.13859_13860ins1 commonName ins1 TP53_g.12473T>C commonName T>C TP53_g.12473T>C protEffect p.Ile162Thr TP53_g.13823C>T commonName C>T TP53_g.13823C>T protEffect p.Asp281Asp TP53_g.13802_13803ins1 commonName ins1 TP53_g.12655del commonName del1 TP53_g.13829C>G commonName C>G TP53_g.13829C>G protEffect p.Arg283Arg TP53_g.16975del commonName del1 TP53_g.11473C>T commonName C>T TP53_g.11473C>T protEffect p.Thr81Ile TP53_g.11532A>T commonName A>T TP53_g.11532A>T protEffect p.Lys101STOP TP53_g.13357T>A commonName T>A TP53_g.13357T>A protEffect p.Ser240Arg TP53_g.12736C>G commonName C>G TP53_g.12736C>G protEffect p.Pro223Ala TP53_g.12500A>C commonName A>C TP53_g.12500A>C protEffect p.Glu171Ala TP53_g.14054T>G commonName T>G TP53_g.14054T>G protEffect p.Phe328Val TP53_g.13393C>A commonName C>A TP53_g.13393C>A protEffect p.Leu252Leu TP53_g.13831C>A commonName C>A TP53_g.13831C>A protEffect p.Thr284Lys TP53_g.13376_13377del commonName del2 TP53_g.12690_12691ins1 commonName ins1 TP53_g.12507G>T commonName G>T TP53_g.12507G>T protEffect p.Val173Val TP53_g.12472del commonName del1 TP53_g.13857_13891del commonName del35 TP53_g.13803_13829del commonName del27 TP53_g.13346_13350del commonName del5 TP53_g.12469G>C commonName G>C TP53_g.12469G>C protEffect p.Ala161Pro TP53_g.12403A>G commonName A>G TP53_g.12403A>G protEffect p.Lys139Glu TP53_g.12669T>A commonName T>A TP53_g.12669T>A protEffect p.Asn200Lys TP53_g.13762G>A commonName G>A TP53_g.12631C>G commonName C>G TP53_g.12631C>G protEffect p.Leu188Val TP53_g.12674_12675ins2 commonName ins2 TP53_g.12477C>T commonName C>T TP53_g.12477C>T protEffect p.Tyr163Tyr TP53_g.13373A>C commonName A>C TP53_g.13373A>C protEffect p.Met246Leu TP53_g.12397C>A commonName C>A TP53_g.12397C>A protEffect p.Leu137Met TP53_g.13389T>C commonName T>C TP53_g.13389T>C protEffect p.Ile251Thr TP53_g.13799T>C commonName T>C TP53_g.13799T>C protEffect p.Arg273Arg TP53_g.13804G>C commonName G>C TP53_g.13804G>C protEffect p.Cys275Ser TP53_g.13352_13358del commonName del7 TP53_g.14011C>T commonName C>T TP53_g.14011C>T protEffect p.Ser313Ser TP53_g.11603C>G commonName C>G TP53_g.11603C>G protEffect p.Cys124Trp TP53_g.12786_12788delinsAGTTA commonName GTT>AGTTA TP53_g.13311T>G commonName T>G TP53_g.13311T>G protEffect p.Val225Gly TP53_g.13397A>G commonName A>G TP53_g.13397A>G protEffect p.Ile254Val TP53_g.13799T>G commonName T>G TP53_g.13799T>G protEffect p.Arg273Arg TP53_g.13805_13806ins8 commonName ins8 TP53_g.13309G>A commonName G>A TP53_g.13900G>A commonName G>A TP53_g.13784_13785ins1 commonName ins1 TP53_g.12438A>G commonName A>G TP53_g.12438A>G protEffect p.Thr150Thr TP53_g.12642T>C commonName T>C TP53_g.12642T>C protEffect p.Pro191Pro TP53_g.13868C>T commonName C>T TP53_g.13868C>T protEffect p.His296His TP53_g.13832A>C commonName A>C TP53_g.13832A>C protEffect p.Thr284Thr TP53_g.13337_13339delinsCAG commonName TAC>CAG TP53_g.13337_13339delinsCAG protEffect Y234Q TP53_g.12678_12679ins2 commonName ins2 TP53_g.12387_12388ins1 commonName ins1 TP53_g.13346_13354del commonName del9 TP53_g.13829_13830ins8 commonName ins8 TP53_g.12510_12511ins3 commonName ins3 TP53_g.30007del commonName del1 TP53_g.11479C>A commonName C>A TP53_g.11479C>A protEffect p.Ala83Glu TP53_g.13823_13824delinsGT commonName CC>GT TP53_g.13823_13824delinsGT protEffect D281E;R282W] TP53_g.14044T>C commonName T>C TP53_g.14044T>C protEffect p.Asp324Asp TP53_g.12460C>A commonName C>A TP53_g.12460C>A protEffect p.Arg158Ser TP53_g.11510G>A commonName G>A TP53_g.11510G>A protEffect p.Leu93Leu TP53_g.12356_12366del commonName del11 TP53_g.12459_12460ins1 commonName ins1 TP53_g.16958G>C commonName G>C TP53_g.16958G>C protEffect p.Gly356Ala TP53_g.12652_12666del commonName del15 TP53_g.13379_13387del commonName del9 TP53_g.13351_13352ins3 commonName ins3 TP53_g.13961_14009del commonName del49 TP53_g.11382_11421del commonName del40 TP53_g.13349_13360del commonName del12 TP53_g.13369_13370ins11 commonName ins11 TP53_g.13318_13319ins13 commonName ins13 TP53_g.12557_12571del commonName del15 TP53_g.13397A>T commonName A>T TP53_g.13397A>T protEffect p.Ile254Phe TP53_g.12513_12514ins2 commonName ins2 TP53_g.11580G>A commonName G>A TP53_g.11580G>A protEffect p.Gly117Arg TP53_g.13322del commonName del1 TP53_g.13346del commonName del1 TP53_g.13766_13767ins1 commonName ins1 TP53_g.13844_13845ins1 commonName ins1 TP53_g.13802_13803ins3 commonName ins3 TP53_g.13775_13776ins1 commonName ins1 TP53_g.14015del commonName del1 TP53_g.14007C>T commonName C>T TP53_g.14007C>T protEffect p.Thr312Ile TP53_g.12717_12718ins1 commonName ins1 TP53_g.11474_11475ins5 commonName ins5 TP53_g.13785A>T commonName A>T TP53_g.13785A>T protEffect p.Ser269Cys TP53_g.12373G>A commonName G>A TP53_g.12373G>A protEffect p.Ala129Thr TP53_g.13769del commonName del1 TP53_g.12510del commonName del1 TP53_g.12712del commonName del1 TP53_g.12654del commonName del1 TP53_g.12711T>A commonName T>A TP53_g.12711T>A protEffect p.His214Gln TP53_g.12480G>A commonName G>A TP53_g.12480G>A protEffect p.Lys164Lys TP53_g.12432T>G commonName T>G TP53_g.12432T>G protEffect p.Asp148Glu TP53_g.13402C>G commonName C>G TP53_g.13402C>G protEffect p.Ile255Met TP53_g.11400_11459del commonName del60 TP53_g.13349_13351del commonName del3 TP53_g.16931C>G commonName C>G TP53_g.16931C>G protEffect p.Ala347Gly TP53_g.11563T>G commonName T>G TP53_g.11563T>G protEffect p.Leu111Arg TP53_g.13350_13352del commonName del3 TP53_g.13400A>G commonName A>G TP53_g.13400A>G protEffect p.Ile255Val TP53_g.12649C>G commonName C>G TP53_g.12649C>G protEffect p.Leu194Val TP53_g.16915_16921del commonName del7 TP53_g.12676G>C commonName G>C TP53_g.12676G>C protEffect p.Val203Leu TP53_g.13358_13389del commonName del32 TP53_g.13387_13388ins1 commonName ins1 TP53_g.12652A>G commonName A>G TP53_g.12652A>G protEffect p.Ile195Val TP53_g.13820A>C commonName A>C TP53_g.13820A>C protEffect p.Arg280Ser TP53_g.13363_13364ins1 commonName ins1 TP53_g.13806del commonName del1 TP53_g.12483_12484ins1 commonName ins1 TP53_g.12454_12465del commonName del12 TP53_g.13815_13820del commonName del6 TP53_g.13363_13364ins3 commonName ins3 TP53_g.13867A>T commonName A>T TP53_g.13867A>T protEffect p.His296Leu TP53_g.12459C>T commonName C>T TP53_g.12459C>T protEffect p.Val157Val TP53_g.11445_11450del commonName del6 TP53_g.12692_12693delinsTT commonName AC>TT TP53_g.12692_12693delinsTT protEffect p.Asp208Val TP53_g.13417_13422del commonName del6 TP53_g.12495G>T commonName G>T TP53_g.12495G>T protEffect p.Met169Ile TP53_g.12538G>A commonName G>A TP53_g.12538G>A protEffect p.Asp184Asn TP53_g.13777G>C commonName G>C TP53_g.13777G>C protEffect p.Gly266Ala TP53_g.13881_13882del commonName del2 TP53_g.13878_13966del commonName del89 TP53_g.13803_13817del commonName del15 TP53_g.13890del commonName del1 TP53_g.12462_12463ins1 commonName ins1 TP53_g.11588C>G commonName C>G TP53_g.11588C>G protEffect p.Ala119Ala TP53_g.16922T>G commonName T>G TP53_g.16922T>G protEffect p.Leu344Arg TP53_g.12629G>A commonName G>A TP53_g.12629G>A protEffect p.Gly187Asp TP53_g.11541C>T commonName C>T TP53_g.11541C>T protEffect p.Gln104STOP TP53_g.13836del commonName del1 TP53_g.13872G>A commonName G>A TP53_g.13872G>A protEffect p.Glu298Lys TP53_g.13365T>G commonName T>G TP53_g.13365T>G protEffect p.Met243Arg TP53_g.13390C>A commonName C>A TP53_g.13390C>A protEffect p.Ile251Ile TP53_g.13369C>A commonName C>A TP53_g.13369C>A protEffect p.Gly244Gly TP53_g.13365T>A commonName T>A TP53_g.13365T>A protEffect p.Met243Lys TP53_g.13363C>A commonName C>A TP53_g.13363C>A protEffect p.Cys242STOP TP53_g.12709C>G commonName C>G TP53_g.12709C>G protEffect p.His214Asp TP53_g.12766G>C commonName G>C TP53_g.13771T>A commonName T>A TP53_g.13771T>A protEffect p.Leu264Gln TP53_g.12692A>G commonName A>G TP53_g.12692A>G protEffect p.Asp208Gly TP53_g.12706_12712del commonName del7 TP53_g.12368del commonName del1 TP53_g.12375_12382del commonName del8 TP53_g.12669del commonName del1 TP53_g.12694_12713del commonName del20 TP53_g.12714_12715ins5 commonName ins5 TP53_g.13355_13356del commonName del2 TP53_g.13360del commonName del1 TP53_g.13804_13805del commonName del2 TP53_g.12426_12427ins21 commonName ins21 TP53_g.13763T>G commonName T>G TP53_g.13763T>G protEffect p.Ser261Arg TP53_g.13357T>G commonName T>G TP53_g.13357T>G protEffect p.Ser240Arg TP53_g.13842_13843del commonName del2 TP53_g.14012del commonName del1 TP53_g.13883A>G commonName A>G TP53_g.13883A>G protEffect p.Pro301Pro TP53_g.13406_13413del commonName del8 TP53_g.11567C>G commonName C>G TP53_g.11567C>G protEffect p.Gly112Gly TP53_g.12477C>A commonName C>A TP53_g.12477C>A protEffect p.Tyr163STOP TP53_g.13331_13351del commonName del21 TP53_g.13346_13351del commonName del6 TP53_g.12727T>G commonName T>G TP53_g.12727T>G protEffect p.Tyr220Asp TP53_g.13791_13802del commonName del12 TP53_g.12641C>T commonName C>T TP53_g.12641C>T protEffect p.Pro191Leu TP53_g.11437C>A commonName C>A TP53_g.11437C>A protEffect p.Ala69Asp TP53_g.11567C>A commonName C>A TP53_g.11567C>A protEffect p.Gly112Gly TP53_g.12505_12506ins18 commonName ins18 TP53_g.12743T>G commonName T>G TP53_g.13923G>A commonName G>A TP53_g.13892_13893ins1 commonName ins1 TP53_g.12409_12416del commonName del8 TP53_g.12711T>C commonName T>C TP53_g.12711T>C protEffect p.His214His TP53_g.12719_12732del commonName del14 TP53_g.13855A>T commonName A>T TP53_g.13855A>T protEffect p.Lys292Ile TP53_g.13894_13895delinsCT commonName AG>CT TP53_g.13894_13895delinsCT protEffect p.Lys305Thr TP53_g.13786del commonName del1 TP53_g.12498_12499ins1 commonName ins1 TP53_g.30003_30026del commonName del24 TP53_g.13851A>G commonName A>G TP53_g.13851A>G protEffect p.Lys291Glu TP53_g.13869C>A commonName C>A TP53_g.13869C>A protEffect p.His297Asn TP53_g.13156G>T commonName G>T TP53_g.13443C>A commonName C>A TP53_g.13402C>T commonName C>T TP53_g.13402C>T protEffect p.Ile255Ile TP53_g.12722T>C commonName T>C TP53_g.12722T>C protEffect p.Val218Ala TP53_g.13773_13781del commonName del9 TP53_g.12706_12707del commonName del2 TP53_g.12366C>A commonName C>A TP53_g.12366C>A protEffect p.Tyr126STOP TP53_g.11370_11506del commonName del137 TP53_g.12484T>C commonName T>C TP53_g.12484T>C protEffect p.Ser166Pro TP53_g.11590A>G commonName A>G TP53_g.11590A>G protEffect p.Lys120Arg TP53_g.12430_12431del commonName del2 TP53_g.13391_13393del commonName del3 TP53_g.12373_12375del commonName del3 TP53_g.12713G>C commonName G>C TP53_g.12713G>C protEffect p.Ser215Thr TP53_g.12447C>A commonName C>A TP53_g.12447C>A protEffect p.Pro153Pro TP53_g.13325A>G commonName A>G TP53_g.13325A>G protEffect p.Thr230Ala TP53_g.13345_13346ins3 commonName ins3 TP53_g.12661_12669del commonName del9 TP53_g.12539A>G commonName A>G TP53_g.12539A>G protEffect p.Asp184Gly TP53_g.13385_13394del commonName del10 TP53_g.12456_12457ins4 commonName ins4 TP53_g.11514T>A commonName T>A TP53_g.11514T>A protEffect p.Ser95Thr TP53_g.14012_14016del commonName del5 TP53_g.12451_12462del commonName del12 TP53_g.13898A>G commonName A>G TP53_g.13898A>G protEffect p.Arg306Arg TP53_g.11364C>A commonName C>A TP53_g.11364C>A protEffect p.Leu45Met TP53_g.11529del commonName del1 TP53_g.13994del commonName del1 TP53_g.13860_13882del commonName del23 TP53_g.13785_13831del commonName del47 TP53_g.12472_12478del commonName del7 TP53_g.13858G>T commonName G>T TP53_g.13858G>T protEffect p.Gly293Val TP53_g.14027_14077del commonName del51 TP53_g.11568_11571del commonName del4 TP53_g.12450C>G commonName C>G TP53_g.12450C>G protEffect p.Gly154Gly TP53_g.12743T>C commonName T>C TP53_g.12419A>G commonName A>G TP53_g.12419A>G protEffect p.Gln144Arg TP53_g.12644A>T commonName A>T TP53_g.12644A>T protEffect p.Gln192Leu TP53_g.12673C>A commonName C>A TP53_g.12673C>A protEffect p.Arg202Ser TP53_g.12651T>G commonName T>G TP53_g.12651T>G protEffect p.Leu194Leu TP53_g.13799_13800ins1 commonName ins1 TP53_g.13881C>T commonName C>T TP53_g.13881C>T protEffect p.Pro301Ser TP53_g.11607G>A commonName G>A TP53_g.13808C>A commonName C>A TP53_g.13808C>A protEffect p.Ala276Ala TP53_g.13394A>C commonName A>C TP53_g.13394A>C protEffect p.Thr253Pro TP53_g.12526G>A commonName G>A TP53_g.12526G>A protEffect p.Glu180Lys TP53_g.12651del commonName del1 TP53_g.12376del commonName del1 TP53_g.12420_12431del commonName del12 TP53_g.12502_12547del commonName del46 TP53_g.13384_13385ins1 commonName ins1 TP53_g.12523_12525delinsTAG commonName CAT>TAG TP53_g.12523_12525delinsTAG protEffect H179X TP53_g.13837A>C commonName A>C TP53_g.13837A>C protEffect p.Glu286Ala TP53_g.13840A>T commonName A>T TP53_g.13840A>T protEffect p.Glu287Val TP53_g.12656del commonName del1 TP53_g.12685_12689del commonName del5 TP53_g.12359_12363del commonName del5 TP53_g.13378_13379delinsAT commonName CC>AT TP53_g.13378_13379delinsAT protEffect N247K;R248W] TP53_g.12409_12410ins1 commonName ins1 TP53_g.12489G>A commonName G>A TP53_g.12489G>A protEffect p.Gln167Gln TP53_g.12361C>T commonName C>T TP53_g.13311T>A commonName T>A TP53_g.13311T>A protEffect p.Val225Asp TP53_g.12450C>A commonName C>A TP53_g.12450C>A protEffect p.Gly154Gly TP53_g.12536C>T commonName C>T TP53_g.12536C>T protEffect p.Ser183Leu TP53_g.12456C>G commonName C>G TP53_g.12456C>G protEffect p.Arg156Arg TP53_g.12414T>C commonName T>C TP53_g.12414T>C protEffect p.Pro142Pro TP53_g.12717_12718ins8 commonName ins8 TP53_g.13803del commonName del1 TP53_g.12452C>G commonName C>G TP53_g.12452C>G protEffect p.Thr155Ser TP53_g.12397_12426del commonName del30 TP53_g.12517_12528del commonName del12 TP53_g.12469_12472del commonName del4 TP53_g.13791_13792delinsCG commonName GA>CG TP53_g.13791_13792delinsCG protEffect p.Glu271Arg TP53_g.14008_14009ins1 commonName ins1 TP53_g.14053T>G commonName T>G TP53_g.14053T>G protEffect p.Tyr327STOP TP53_g.12680A>C commonName A>C TP53_g.12680A>C protEffect p.Glu204Ala TP53_g.13353A>T commonName A>T TP53_g.13353A>T protEffect p.Asn239Ile TP53_g.12531C>T commonName C>T TP53_g.12531C>T protEffect p.Arg181Arg TP53_g.12369C>T commonName C>T TP53_g.12369C>T protEffect p.Ser127Ser TP53_g.12646C>A commonName C>A TP53_g.12646C>A protEffect p.His193Asn TP53_g.13329C>T commonName C>T TP53_g.13329C>T protEffect p.Thr231Ile TP53_g.12399_12400ins1 commonName ins1 TP53_g.12492C>A commonName C>A TP53_g.12492C>A protEffect p.His168Gln TP53_g.12630_12631ins1 commonName ins1 TP53_g.13373_13387del commonName del15 TP53_g.12403_12407del commonName del5 TP53_g.13337_13344del commonName del8 TP53_g.13362_13363delinsTT commonName GC>TT TP53_g.13362_13363delinsTT protEffect p.Cys242Phe TP53_g.13921C>T commonName C>T TP53_g.12466del commonName del1 TP53_g.12436_12454del commonName del19 TP53_g.12720_12721ins5 commonName ins5 TP53_g.13369C>G commonName C>G TP53_g.13369C>G protEffect p.Gly244Gly TP53_g.12527A>G commonName A>G TP53_g.12527A>G protEffect p.Glu180Gly TP53_g.12703T>C commonName T>C TP53_g.12703T>C protEffect p.Phe212Leu TP53_g.13797del commonName del1 TP53_g.12408C>A commonName C>A TP53_g.12408C>A protEffect p.Thr140Thr TP53_g.13802T>G commonName T>G TP53_g.13802T>G protEffect p.Val274Val TP53_g.12509G>C commonName G>C TP53_g.12509G>C protEffect p.Arg174Thr TP53_g.13784C>T commonName C>T TP53_g.13784C>T protEffect p.Asn268Asn TP53_g.13360C>T commonName C>T TP53_g.13360C>T protEffect p.Ser241Ser TP53_g.13397A>C commonName A>C TP53_g.13397A>C protEffect p.Ile254Leu TP53_g.13853G>A commonName G>A TP53_g.13853G>A protEffect p.Lys291Lys TP53_g.12405_12406ins1 commonName ins1 TP53_g.12513C>A commonName C>A TP53_g.12513C>A protEffect p.Arg175Arg TP53_g.13388A>G commonName A>G TP53_g.13388A>G protEffect p.Ile251Val TP53_g.11338C>T commonName C>T TP53_g.11338C>T protEffect p.Pro36Leu TP53_g.11205A>C commonName A>C TP53_g.11205A>C protEffect p.Glu28Ala TP53_g.14020_14021ins1 commonName ins1 TP53_g.11589_11788del commonName del200 TP53_g.11553_11563del commonName del11 TP53_g.13353_13354delinsGT commonName AC>GT TP53_g.13353_13354delinsGT protEffect p.Asn239Ser TP53_g.12643C>A commonName C>A TP53_g.12643C>A protEffect p.Gln192Lys TP53_g.12645G>C commonName G>C TP53_g.12645G>C protEffect p.Gln192His TP53_g.12408_12409ins1 commonName ins1 TP53_g.16905_16906ins16 commonName ins16 TP53_g.13990A>G commonName A>G TP53_g.16924del commonName del1 TP53_g.13761_13762ins3 commonName ins3 TP53_g.12412_12413delinsTT commonName CC>TT TP53_g.12412_12413delinsTT protEffect p.Pro142Phe TP53_g.12368_12369delinsTT commonName CC>TT TP53_g.12368_12369delinsTT protEffect p.Ser127Phe TP53_g.12733_12734delinsTT commonName CC>TT TP53_g.12733_12734delinsTT protEffect p.Pro222Leu TP53_g.13359_13360delinsTT commonName CC>TT TP53_g.13359_13360delinsTT protEffect p.Ser241Phe TP53_g.12401_12402delinsTT commonName CC>TT TP53_g.12401_12402delinsTT protEffect p.Ala138Val TP53_g.12725_12726delinsTT commonName CC>TT TP53_g.12725_12726delinsTT protEffect p.Pro219Leu TP53_g.13851_13869del commonName del19 TP53_g.12721_12730del commonName del10 TP53_g.13815_13818del commonName del4 TP53_g.11526_11527del commonName del2 TP53_g.30000_30001ins16 commonName ins16 TP53_g.13845del commonName del1 TP53_g.12678G>A commonName G>A TP53_g.12678G>A protEffect p.Val203Val TP53_g.13310_13311del commonName del2 TP53_g.13334C>T commonName C>T TP53_g.13334C>T protEffect p.His233Tyr TP53_g.12397C>T commonName C>T TP53_g.12397C>T protEffect p.Leu137Leu TP53_g.12544G>A commonName G>A TP53_g.12544G>A protEffect p.Asp186Asn TP53_g.11467C>G commonName C>G TP53_g.11467C>G protEffect p.Ala79Gly TP53_g.12382del commonName del1 TP53_g.12411del commonName del1 TP53_g.13768_13769ins1 commonName ins1 TP53_g.12538G>C commonName G>C TP53_g.12538G>C protEffect p.Asp184His TP53_g.12406_12407ins1 commonName ins1 TP53_g.12520_12521ins1 commonName ins1 TP53_g.12491_12492ins1 commonName ins1 TP53_g.12404del commonName del1 TP53_g.12729_12730ins1 commonName ins1 TP53_g.13343_13345del commonName del3 TP53_g.12397del commonName del1 TP53_g.12429_12430ins2 commonName ins2 TP53_g.12456_12457ins1 commonName ins1 TP53_g.12459_12460ins4 commonName ins4 TP53_g.12595_12616del commonName del22 TP53_g.12639_12640ins2 commonName ins2 TP53_g.13281_13304del commonName del24 TP53_g.13352_13357del commonName del6 TP53_g.13364_13371del commonName del8 TP53_g.13841G>T commonName G>T TP53_g.13841G>T protEffect p.Glu287Asp TP53_g.11424_11444del commonName del21 TP53_g.12700_12714del commonName del15 TP53_g.12727_12733del commonName del7 TP53_g.13322T>G commonName T>G TP53_g.13322T>G protEffect p.Cys229Gly TP53_g.13394_13396del commonName del3 TP53_g.13884_13888del commonName del5 TP53_g.11501_11502ins1 commonName ins1 TP53_g.13342_13343ins2 commonName ins2 TP53_g.14003A>C commonName A>C TP53_g.14003A>C protEffect p.Asn311His TP53_g.16891del commonName del1 TP53_g.12702T>C commonName T>C TP53_g.12702T>C protEffect p.Thr211Thr TP53_g.12658G>T commonName G>T TP53_g.12658G>T protEffect p.Val197Leu TP53_g.12725C>A commonName C>A TP53_g.12725C>A protEffect p.Pro219His TP53_g.12476A>C commonName A>C TP53_g.12476A>C protEffect p.Tyr163Ser TP53_g.12421_12423del commonName del3 TP53_g.12733_12736del commonName del4 TP53_g.12381_12383del commonName del3 TP53_g.12430_12458del commonName del29 TP53_g.12400_12403del commonName del4 TP53_g.12498_12499ins6 commonName ins6 TP53_g.13845C>T commonName C>T TP53_g.13845C>T protEffect p.Leu289Phe TP53_g.13333_13334ins1 commonName ins1 TP53_g.12550G>C commonName G>C TP53_g.17926del commonName del1 TP53_g.12688_12708del commonName del21 TP53_g.13418_13441del commonName del24 TP53_g.11563T>A commonName T>A TP53_g.11563T>A protEffect p.Leu111Gln TP53_g.13379_13381delinsTGC commonName CGG>TGC TP53_g.13379_13381delinsTGC protEffect R248C TP53_g.12571C>T commonName C>T TP53_g.12528G>C commonName G>C TP53_g.12528G>C protEffect p.Glu180Asp TP53_g.12511_12528del commonName del18 TP53_g.13848_13858del commonName del11 TP53_g.13826_13827ins2 commonName ins2 TP53_g.13791_13793del commonName del3 TP53_g.12638C>G commonName C>G TP53_g.12638C>G protEffect p.Pro190Arg TP53_g.11470C>T commonName C>T TP53_g.11470C>T protEffect p.Pro80Leu TP53_g.11485C>T commonName C>T TP53_g.11485C>T protEffect p.Pro85Leu TP53_g.11544del commonName del1 TP53_g.12414T>A commonName T>A TP53_g.12414T>A protEffect p.Pro142Pro TP53_g.13379C>A commonName C>A TP53_g.13379C>A protEffect p.Arg248Arg TP53_g.12730_12734del commonName del5 TP53_g.12545A>G commonName A>G TP53_g.12545A>G protEffect p.Asp186Gly TP53_g.11449del commonName del1 TP53_g.12637C>T commonName C>T TP53_g.12637C>T protEffect p.Pro190Ser TP53_g.13854A>T commonName A>T TP53_g.13854A>T protEffect p.Lys292STOP TP53_g.13794_13856del commonName del63 TP53_g.14020_14021delinsTT commonName CC>TT TP53_g.14020_14021delinsTT protEffect Q317X TP53_g.30004_30022del commonName del19 TP53_g.14059C>A commonName C>A TP53_g.14059C>A protEffect p.Thr329Thr TP53_g.12454_12457del commonName del4 TP53_g.12706_12709del commonName del4 TP53_g.13388_13399del commonName del12 TP53_g.13419del commonName del1 TP53_g.12542G>T commonName G>T TP53_g.12542G>T protEffect p.Ser185Ile TP53_g.12529C>A commonName C>A TP53_g.12529C>A protEffect p.Arg181Ser TP53_g.12645G>T commonName G>T TP53_g.12645G>T protEffect p.Gln192His TP53_g.12394del commonName del1 TP53_g.13337_13338del commonName del2 TP53_g.12714T>A commonName T>A TP53_g.12714T>A protEffect p.Ser215Arg TP53_g.12685T>A commonName T>A TP53_g.12685T>A protEffect p.Leu206Met TP53_g.13415T>A commonName T>A TP53_g.13415T>A protEffect p.Ser260Thr TP53_g.13778A>T commonName A>T TP53_g.13778A>T protEffect p.Gly266Gly TP53_g.13312T>C commonName T>C TP53_g.13312T>C protEffect p.Val225Val TP53_g.12421C>A commonName C>A TP53_g.12421C>A protEffect p.Leu145Met TP53_g.12679_12691del commonName del13 TP53_g.12701_12702del commonName del2 TP53_g.12435_12436ins1 commonName ins1 TP53_g.13777del commonName del1 TP53_g.30017_30022del commonName del6 TP53_g.12502G>A commonName G>A TP53_g.12502G>A protEffect p.Val172Ile TP53_g.12690_12691delinsGT commonName TG>GT TP53_g.12690_12691delinsGT protEffect D207E;D208Y] TP53_g.13347T>C commonName T>C TP53_g.13347T>C protEffect p.Met237Thr TP53_g.12639T>A commonName T>A TP53_g.12639T>A protEffect p.Pro190Pro TP53_g.13877G>T commonName G>T TP53_g.13877G>T protEffect p.Leu299Leu TP53_g.12734C>G commonName C>G TP53_g.12734C>G protEffect p.Pro222Arg TP53_g.13809T>C commonName T>C TP53_g.13809T>C protEffect p.Cys277Arg TP53_g.13411A>C commonName A>C TP53_g.13411A>C protEffect p.Glu258Asp TP53_g.13382_13388del commonName del7 TP53_g.13313del commonName del1 TP53_g.11495_11496ins1 commonName ins1 TP53_g.12649del commonName del1 TP53_g.13344A>T commonName A>T TP53_g.13344A>T protEffect p.Tyr236Phe TP53_g.13385_13396del commonName del12 TP53_g.12668A>G commonName A>G TP53_g.12668A>G protEffect p.Asn200Ser TP53_g.12514_12516del commonName del3 TP53_g.12736C>T commonName C>T TP53_g.12736C>T protEffect p.Pro223Ser TP53_g.12519C>G commonName C>G TP53_g.12519C>G protEffect p.Pro177Pro TP53_g.12364_12381del commonName del18 TP53_g.12429_12430ins1 commonName ins1 TP53_g.11569T>C commonName T>C TP53_g.11569T>C protEffect p.Phe113Ser TP53_g.30019_30020ins6 commonName ins6 TP53_g.12405_12410del commonName del6 TP53_g.12364_12365delinsGG commonName TA>GG TP53_g.12364_12365delinsGG protEffect p.Tyr126Gly TP53_g.13416C>A commonName C>A TP53_g.13416C>A protEffect p.Ser260Tyr TP53_g.11597_11598ins1 commonName ins1 TP53_g.13999C>T commonName C>T TP53_g.13999C>T protEffect p.Pro309Pro TP53_g.14016C>T commonName C>T TP53_g.14016C>T protEffect p.Ser315Phe TP53_g.12718_12723del commonName del6 TP53_g.13412_13414delinsCCG commonName GAC>CCG TP53_g.13412_13414delinsCCG protEffect D259P TP53_g.13322T>C commonName T>C TP53_g.13322T>C protEffect p.Cys229Arg TP53_g.13311T>C commonName T>C TP53_g.13311T>C protEffect p.Val225Ala TP53_g.11565_11579del commonName del15 TP53_g.11455C>G commonName C>G TP53_g.11455C>G protEffect p.Pro75Arg TP53_g.12629G>T commonName G>T TP53_g.12629G>T protEffect p.Gly187Val TP53_g.13855A>C commonName A>C TP53_g.13855A>C protEffect p.Lys292Thr TP53_g.11544G>C commonName G>C TP53_g.11544G>C protEffect p.Gly105Arg TP53_g.11540C>A commonName C>A TP53_g.11540C>A protEffect p.Tyr103STOP TP53_g.12711_12712ins5 commonName ins5 TP53_g.12621_12626del commonName del6 TP53_g.12522_12523ins1 commonName ins1 TP53_g.12370_12374del commonName del5 TP53_g.13397_13399del commonName del3 TP53_g.13839_13840del commonName del2 TP53_g.13820_13821ins8 commonName ins8 TP53_g.13357T>C commonName T>C TP53_g.13357T>C protEffect p.Ser240Ser TP53_g.13776del commonName del1 TP53_g.12636_12637ins1 commonName ins1 TP53_g.12671T>A commonName T>A TP53_g.12671T>A protEffect p.Leu201STOP TP53_g.12365A>C commonName A>C TP53_g.12365A>C protEffect p.Tyr126Ser TP53_g.11601T>A commonName T>A TP53_g.11601T>A protEffect p.Cys124Ser TP53_g.13378_13379delinsGT commonName CC>GT TP53_g.13378_13379delinsGT protEffect N247K;R248W] TP53_g.12363_12364ins1 commonName ins1 TP53_g.12515_12517delinsTTT commonName GCC>TTT TP53_g.12515_12517delinsTTT protEffect C176F;P177S] TP53_g.11370_11371delinsTT commonName CC>TT TP53_g.11370_11371delinsTT protEffect p.Pro47Leu TP53_g.12440_12441delinsTT commonName CC>TT TP53_g.12440_12441delinsTT protEffect p.Pro151Leu TP53_g.12517_12518delinsTT commonName CC>TT TP53_g.12517_12518delinsTT protEffect p.Pro177Phe TP53_g.12474_12475delinsTC commonName CT>TC TP53_g.12474_12475delinsTC protEffect Y163H TP53_g.11494_11495delinsTT commonName CC>TT TP53_g.11494_11495delinsTT protEffect p.Ala88Val TP53_g.11442C>A commonName C>A TP53_g.11442C>A protEffect p.Pro71Thr TP53_g.13402_13403ins2 commonName ins2 TP53_g.12724_12725del commonName del2 TP53_g.12402C>G commonName C>G TP53_g.12402C>G protEffect p.Ala138Ala TP53_g.12406_12408delinsGCG commonName ACC>GCG TP53_g.12406_12408delinsGCG protEffect T140A TP53_g.12526G>C commonName G>C TP53_g.12526G>C protEffect p.Glu180Gln TP53_g.12451A>T commonName A>T TP53_g.12451A>T protEffect p.Thr155Ser TP53_g.12438A>C commonName A>C TP53_g.12438A>C protEffect p.Thr150Thr TP53_g.12495G>C commonName G>C TP53_g.12495G>C protEffect p.Met169Ile TP53_g.12642T>A commonName T>A TP53_g.12642T>A protEffect p.Pro191Pro TP53_g.13888G>T commonName G>T TP53_g.13888G>T protEffect p.Ser303Ile TP53_g.13835G>C commonName G>C TP53_g.13835G>C protEffect p.Glu285Asp TP53_g.12446C>T commonName C>T TP53_g.12446C>T protEffect p.Pro153Leu TP53_g.13416C>G commonName C>G TP53_g.13416C>G protEffect p.Ser260Cys TP53_g.12421C>T commonName C>T TP53_g.12421C>T protEffect p.Leu145Leu TP53_g.13824del commonName del1 TP53_g.13863del commonName del1 TP53_g.13814T>C commonName T>C TP53_g.13814T>C protEffect p.Pro278Pro TP53_g.12529C>G commonName C>G TP53_g.12529C>G protEffect p.Arg181Gly TP53_g.12514_12525del commonName del12 TP53_g.12715_12720del commonName del6 TP53_g.12433_12465del commonName del33 TP53_g.13400_13405del commonName del6 TP53_g.12363del commonName del1 TP53_g.11509T>C commonName T>C TP53_g.11509T>C protEffect p.Leu93Pro TP53_g.11479C>T commonName C>T TP53_g.11479C>T protEffect p.Ala83Val TP53_g.11355G>T commonName G>T TP53_g.11355G>T protEffect p.Asp42Tyr TP53_g.11448G>T commonName G>T TP53_g.11448G>T protEffect p.Val73Leu TP53_g.12383A>C commonName A>C TP53_g.12383A>C protEffect p.Lys132Thr TP53_g.12646_12654delinsGCCCCT commonName CATCTTATC>GCCCCT TP53_g.13318T>A commonName T>A TP53_g.13318T>A protEffect p.Ser227Ser TP53_g.13760T>A commonName T>A TP53_g.11484del commonName del1 TP53_g.12684T>C commonName T>C TP53_g.12684T>C protEffect p.Tyr205Tyr TP53_g.13832A>G commonName A>G TP53_g.13832A>G protEffect p.Thr284Thr TP53_g.12705T>G commonName T>G TP53_g.12705T>G protEffect p.Phe212Leu TP53_g.13330C>A commonName C>A TP53_g.13330C>A protEffect p.Thr231Thr TP53_g.13896_13899del commonName del4 TP53_g.16894C>G commonName C>G TP53_g.16894C>G protEffect p.Arg335Gly TP53_g.13788_13789del commonName del2 TP53_g.14022A>T commonName A>T TP53_g.14022A>T protEffect p.Gln317Leu TP53_g.13391_13426del commonName del36 TP53_g.13319G>T commonName G>T TP53_g.13319G>T protEffect p.Asp228Tyr TP53_g.13328del commonName del1 TP53_g.12459C>A commonName C>A TP53_g.12459C>A protEffect p.Val157Val TP53_g.13325A>T commonName A>T TP53_g.13325A>T protEffect p.Thr230Ser TP53_g.12429T>G commonName T>G TP53_g.12429T>G protEffect p.Val147Val TP53_g.13791_13793delinsTAA commonName GAG>TAA TP53_g.13791_13793delinsTAA protEffect E271X TP53_g.12486A>C commonName A>C TP53_g.12486A>C protEffect p.Ser166Ser TP53_g.14006A>T commonName A>T TP53_g.14006A>T protEffect p.Thr312Ser TP53_g.14030A>T commonName A>T TP53_g.14030A>T protEffect p.Lys320STOP TP53_g.12510G>T commonName G>T TP53_g.12510G>T protEffect p.Arg174Ser TP53_g.12513C>T commonName C>T TP53_g.12513C>T protEffect p.Arg175Arg TP53_g.13378C>A commonName C>A TP53_g.13378C>A protEffect p.Asn247Lys TP53_g.12546T>A commonName T>A TP53_g.12546T>A protEffect p.Asp186Glu TP53_g.13343_13344del commonName del2 TP53_g.12535_12542del commonName del8 TP53_g.13854_13857del commonName del4 TP53_g.12718del commonName del1 TP53_g.12729T>G commonName T>G TP53_g.12729T>G protEffect p.Tyr220STOP TP53_g.12410G>C commonName G>C TP53_g.12410G>C protEffect p.Cys141Ser TP53_g.11524C>T commonName C>T TP53_g.11524C>T protEffect p.Pro98Leu TP53_g.11498C>T commonName C>T TP53_g.11498C>T protEffect p.Pro89Pro TP53_g.11570C>T commonName C>T TP53_g.11570C>T protEffect p.Phe113Phe TP53_g.13759G>A commonName G>A TP53_g.12546_12547ins2 commonName ins2 TP53_g.11537C>T commonName C>T TP53_g.11537C>T protEffect p.Thr102Thr TP53_g.11497C>T commonName C>T TP53_g.11497C>T protEffect p.Pro89Leu TP53_g.11522C>T commonName C>T TP53_g.11522C>T protEffect p.Val97Val TP53_g.11421del commonName del1 TP53_g.11556del commonName del1 TP53_g.16919A>G commonName A>G TP53_g.16919A>G protEffect p.Glu343Gly TP53_g.13857_13873del commonName del17 TP53_g.14021del commonName del1 TP53_g.12679G>A commonName G>A TP53_g.12679G>A protEffect p.Glu204Lys TP53_g.11018C>T commonName C>T TP53_g.11018C>T protEffect p.Gln5STOP TP53_g.11590A>T commonName A>T TP53_g.11590A>T protEffect p.Lys120Met TP53_g.11599C>T commonName C>T TP53_g.11599C>T protEffect p.Thr123Ile TP53_g.12366C>T commonName C>T TP53_g.12366C>T protEffect p.Tyr126Tyr TP53_g.14032G>A commonName G>A TP53_g.14032G>A protEffect p.Lys320Lys TP53_g.17945G>A commonName G>A TP53_g.17945G>A protEffect p.Arg379His TP53_g.12560_12561del commonName del2 TP53_g.13905C>T commonName C>T TP53_g.12623T>G commonName T>G TP53_g.13369_13370ins10 commonName ins10 TP53_g.12514_12531del commonName del18 TP53_g.13895G>C commonName G>C TP53_g.13895G>C protEffect p.Lys305Asn TP53_g.13292G>C commonName G>C TP53_g.12719T>G commonName T>G TP53_g.12719T>G protEffect p.Val217Gly TP53_g.12481_12483del commonName del3 TP53_g.12715_12716del commonName del2 TP53_g.13866C>A commonName C>A TP53_g.13866C>A protEffect p.His296Asn TP53_g.14018_14019del commonName del2 TP53_g.12681_12682ins2 commonName ins2 TP53_g.14053T>C commonName T>C TP53_g.14053T>C protEffect p.Tyr327Tyr TP53_g.12743T>A commonName T>A TP53_g.12726C>A commonName C>A TP53_g.12726C>A protEffect p.Pro219Pro TP53_g.12643_12644del commonName del2 TP53_g.13400_13401del commonName del2 TP53_g.12378C>T commonName C>T TP53_g.12378C>T protEffect p.Leu130Leu TP53_g.12384_12385ins1 commonName ins1 TP53_g.12430_12432delinsTGA commonName GAT>TGA TP53_g.12430_12432delinsTGA protEffect D148X TP53_g.12639T>G commonName T>G TP53_g.12639T>G protEffect p.Pro190Pro TP53_g.14001A>C commonName A>C TP53_g.14001A>C protEffect p.Asn310Thr TP53_g.13322_13324delinsTA commonName TGT>TA TP53_g.13352_13354delinsTAA commonName AAC>TAA TP53_g.13352_13354delinsTAA protEffect N239X TP53_g.13874_13875ins1 commonName ins1 TP53_g.13371_13372delinsAA commonName GC>AA TP53_g.13371_13372delinsAA protEffect p.Gly245Glu TP53_g.13392T>A commonName T>A TP53_g.13392T>A protEffect p.Leu252His TP53_g.14000_14001delinsTT commonName AA>TT TP53_g.14000_14001delinsTT protEffect p.Asn310Leu TP53_g.13355_13357delinsCCC commonName AGT>CCC TP53_g.13355_13357delinsCCC protEffect S240P TP53_g.14037C>G commonName C>G TP53_g.14037C>G protEffect p.Pro322Arg TP53_g.14039del commonName del1 TP53_g.14039_14040delinsGG commonName CT>GG TP53_g.14039_14040delinsGG protEffect p.Leu323Gly TP53_g.12395A>C commonName A>C TP53_g.12395A>C protEffect p.Gln136Pro TP53_g.13996G>C commonName G>C TP53_g.13996G>C protEffect p.Leu308Leu TP53_g.13368_13369delinsAA commonName GC>AA TP53_g.13368_13369delinsAA protEffect p.Gly244Glu TP53_g.13893_13895delinsTAA commonName AAG>TAA TP53_g.13893_13895delinsTAA protEffect K305X TP53_g.14040T>G commonName T>G TP53_g.14040T>G protEffect p.Leu323Arg TP53_g.14016C>G commonName C>G TP53_g.14016C>G protEffect p.Ser315Cys TP53_g.12652_12653delinsTA commonName AT>TA TP53_g.12652_12653delinsTA protEffect p.Ile195Tyr TP53_g.13878C>G commonName C>G TP53_g.13878C>G protEffect p.Pro300Ala TP53_g.12691_12728del commonName del38 TP53_g.12640_12647del commonName del8 TP53_g.12433_12511del commonName del79 TP53_g.16883A>T commonName A>T TP53_g.12635del commonName del1 TP53_g.11540C>G commonName C>G TP53_g.11540C>G protEffect p.Tyr103STOP TP53_g.12381C>T commonName C>T TP53_g.12381C>T protEffect p.Asn131Asn TP53_g.12365A>T commonName A>T TP53_g.12365A>T protEffect p.Tyr126Phe TP53_g.13396C>G commonName C>G TP53_g.13396C>G protEffect p.Thr253Thr TP53_g.12508A>C commonName A>C TP53_g.12508A>C protEffect p.Arg174Arg TP53_g.13847C>G commonName C>G TP53_g.13847C>G protEffect p.Leu289Leu TP53_g.13809_13838del commonName del30 TP53_g.11526del commonName del1 TP53_g.11603_11604ins1 commonName ins1 TP53_g.13782A>T commonName A>T TP53_g.13782A>T protEffect p.Asn268Tyr TP53_g.13792A>C commonName A>C TP53_g.13792A>C protEffect p.Glu271Ala TP53_g.13403_13411del commonName del9 TP53_g.12409_12417del commonName del9 TP53_g.12627A>G commonName A>G TP53_g.13376_13379del commonName del4 TP53_g.13339C>G commonName C>G TP53_g.13339C>G protEffect p.Tyr234STOP TP53_g.13340_13342del commonName del3 TP53_g.13331A>C commonName A>C TP53_g.13331A>C protEffect p.Ile232Leu TP53_g.12637C>G commonName C>G TP53_g.12637C>G protEffect p.Pro190Ala TP53_g.12733C>A commonName C>A TP53_g.12733C>A protEffect p.Pro222Thr TP53_g.12729T>A commonName T>A TP53_g.12729T>A protEffect p.Tyr220STOP TP53_g.13378C>G commonName C>G TP53_g.13378C>G protEffect p.Asn247Lys TP53_g.30018_30031del commonName del14 TP53_g.16885del commonName del1 TP53_g.11027C>T commonName C>T TP53_g.11027C>T protEffect p.Pro8Ser TP53_g.11048A>C commonName A>C TP53_g.11048A>C protEffect p.Ser15Arg TP53_g.11413A>G commonName A>G TP53_g.11413A>G protEffect p.Asp61Gly TP53_g.11317C>T commonName C>T TP53_g.11534_11535ins1 commonName ins1 TP53_g.11543G>T commonName G>T TP53_g.11543G>T protEffect p.Gln104His TP53_g.17962T>C commonName T>C TP53_g.17962T>C protEffect p.Phe385Leu TP53_g.11547A>G commonName A>G TP53_g.11547A>G protEffect p.Ser106Gly TP53_g.16992G>A commonName G>A TP53_g.11082G>A commonName G>A TP53_g.13306C>T commonName C>T TP53_g.16929G>A commonName G>A TP53_g.16929G>A protEffect p.Glu346Glu TP53_g.16979G>A commonName G>A TP53_g.16979G>A protEffect p.Arg363Lys TP53_g.16878G>A commonName G>A TP53_g.16974G>A commonName G>A TP53_g.16974G>A protEffect p.Gly361Gly TP53_g.16984C>T commonName C>T TP53_g.16984C>T protEffect p.His365Tyr TP53_g.11035C>T commonName C>T TP53_g.11035C>T protEffect p.Val10Val TP53_g.16982C>T commonName C>T TP53_g.16982C>T protEffect p.Ala364Val TP53_g.12432T>C commonName T>C TP53_g.12432T>C protEffect p.Asp148Asp TP53_g.13884G>A commonName G>A TP53_g.12444G>C commonName G>C TP53_g.12444G>C protEffect p.Pro152Pro TP53_g.12415G>C commonName G>C TP53_g.12688G>C commonName G>C TP53_g.12688G>C protEffect p.Asp207His TP53_g.12719T>A commonName T>A TP53_g.12719T>A protEffect p.Val217Glu TP53_g.12466A>T commonName A>T TP53_g.12466A>T protEffect p.Met160Leu TP53_g.12498G>T commonName G>T TP53_g.12498G>T protEffect p.Thr170Thr TP53_g.12690T>C commonName T>C TP53_g.12690T>C protEffect p.Asp207Asp TP53_g.12417G>C commonName G>C TP53_g.12417G>C protEffect p.Val143Val TP53_g.12681G>A commonName G>A TP53_g.12681G>A protEffect p.Glu204Glu TP53_g.12382_12392del commonName del11 TP53_g.12664G>T commonName G>T TP53_g.12664G>T protEffect p.Gly199STOP TP53_g.16891G>T commonName G>T TP53_g.16891G>T protEffect p.Gly334Trp TP53_g.12375_12376ins6 commonName ins6 TP53_g.11431C>G commonName C>G TP53_g.11431C>G protEffect p.Pro67Arg TP53_g.12430_12432delinsGG commonName GAT>GG TP53_g.13764_13769delinsCCTGAT commonName GGTAAT>CCTGAT TP53_g.13764_13769delinsCCTGAT protEffect G262P;N263D] TP53_g.13866_13890del commonName del25 TP53_g.13830_13838del commonName del9 TP53_g.13796_13797delinsAA commonName GC>AA TP53_g.13796_13797delinsAA protEffect R273S TP53_g.13335A>T commonName A>T TP53_g.13335A>T protEffect p.His233Leu TP53_g.12546T>C commonName T>C TP53_g.12546T>C protEffect p.Asp186Asp TP53_g.12544_12561del commonName del18 TP53_g.13365_13366delinsCA commonName TG>CA TP53_g.13365_13366delinsCA protEffect p.Met243Thr TP53_g.12412C>A commonName C>A TP53_g.12412C>A protEffect p.Pro142Thr TP53_g.12420G>T commonName G>T TP53_g.12420G>T protEffect p.Gln144His TP53_g.12403_12411del commonName del9 TP53_g.12514_12519del commonName del6 TP53_g.12460_12461delinsTA commonName CG>TA TP53_g.12460_12461delinsTA protEffect p.Arg158Tyr TP53_g.12443C>G commonName C>G TP53_g.12443C>G protEffect p.Pro152Arg TP53_g.16901G>A commonName G>A TP53_g.16901G>A protEffect p.Arg337His TP53_g.13356G>A commonName G>A TP53_g.13356G>A protEffect p.Ser240Asn TP53_g.11547_11612del commonName del66 TP53_g.11557T>G commonName T>G TP53_g.11557T>G protEffect p.Phe109Cys TP53_g.11593C>T commonName C>T TP53_g.11593C>T protEffect p.Ser121Phe TP53_g.12458T>C commonName T>C TP53_g.12458T>C protEffect p.Val157Ala TP53_g.12731A>C commonName A>C TP53_g.12731A>C protEffect p.Glu221Ala TP53_g.13390C>T commonName C>T TP53_g.13390C>T protEffect p.Ile251Ile TP53_g.13799T>A commonName T>A TP53_g.13799T>A protEffect p.Arg273Arg TP53_g.13866_13867delinsTG commonName CA>TG TP53_g.13866_13867delinsTG protEffect p.His296Cys TP53_g.13847C>A commonName C>A TP53_g.13847C>A protEffect p.Leu289Leu TP53_g.13883A>T commonName A>T TP53_g.13883A>T protEffect p.Pro301Pro TP53_g.13852A>T commonName A>T TP53_g.13852A>T protEffect p.Lys291Met TP53_g.13847C>T commonName C>T TP53_g.13847C>T protEffect p.Leu289Leu TP53_g.12704T>A commonName T>A TP53_g.12704T>A protEffect p.Phe212Tyr TP53_g.13385_13390del commonName del6 TP53_g.13993A>G commonName A>G TP53_g.13993A>G protEffect p.Ala307Ala TP53_g.12439_12444del commonName del6 TP53_g.12511del commonName del1 TP53_g.13383_13384delinsAT commonName GG>AT TP53_g.13383_13384delinsAT protEffect p.Arg249Asn TP53_g.11421_11481del commonName del61 TP53_g.11553del commonName del1 TP53_g.11558_11559ins14 commonName ins14 TP53_g.11600_11601ins5 commonName ins5 TP53_g.13793_13794ins2 commonName ins2 TP53_g.13848del commonName del1 TP53_g.13833_13844del commonName del12 TP53_g.16915_16926del commonName del12 TP53_g.11608T>G commonName T>G TP53_g.12362A>C commonName A>C TP53_g.11415_11418del commonName del4 TP53_g.12700del commonName del1 TP53_g.11513_11514ins17 commonName ins17 TP53_g.14060_14061del commonName del2 TP53_g.13806_13861del commonName del56 TP53_g.11484_11499del commonName del16 TP53_g.11486_11487ins4 commonName ins4 TP53_g.12634_12635del commonName del2 TP53_g.14015_14039del commonName del25 TP53_g.13829_13830ins1 commonName ins1 TP53_g.13429C>T commonName C>T TP53_g.13376del commonName del1 TP53_g.30015_30037del commonName del23 TP53_g.12384G>A commonName G>A TP53_g.12384G>A protEffect p.Lys132Lys TP53_g.12374C>T commonName C>T TP53_g.12374C>T protEffect p.Ala129Val TP53_g.12699C>T commonName C>T TP53_g.12699C>T protEffect p.Asn210Asn TP53_g.12654C>T commonName C>T TP53_g.12654C>T protEffect p.Ile195Ile TP53_g.12655_12656delinsTC commonName CG>TC TP53_g.12655_12656delinsTC protEffect p.Arg196Ser TP53_g.12717G>A commonName G>A TP53_g.12717G>A protEffect p.Val216Val TP53_g.13414C>T commonName C>T TP53_g.13414C>T protEffect p.Asp259Asp TP53_g.13333C>T commonName C>T TP53_g.13333C>T protEffect p.Ile232Ile TP53_g.13406C>T commonName C>T TP53_g.13406C>T protEffect p.Leu257Leu TP53_g.13808C>T commonName C>T TP53_g.13808C>T protEffect p.Ala276Ala TP53_g.13880C>T commonName C>T TP53_g.13880C>T protEffect p.Pro300Pro TP53_g.12436A>G commonName A>G TP53_g.12436A>G protEffect p.Thr150Ala TP53_g.13334del commonName del1 TP53_g.14046G>C commonName G>C TP53_g.14046G>C protEffect p.Gly325Ala TP53_g.11592del commonName del1 TP53_g.13415T>C commonName T>C TP53_g.13415T>C protEffect p.Ser260Pro TP53_g.12418_12450del commonName del33 TP53_g.14009A>T commonName A>T TP53_g.14009A>T protEffect p.Ser313Cys TP53_g.12536_12562del commonName del27 TP53_g.13825_13826delinsAT commonName GG>AT TP53_g.13825_13826delinsAT protEffect p.Arg282His TP53_g.12360A>G commonName A>G TP53_g.12712_12721del commonName del10 TP53_g.12709del commonName del1 TP53_g.12679_12680del commonName del2 TP53_g.12480_12481delinsAT commonName GC>AT TP53_g.12480_12481delinsAT protEffect Q165X TP53_g.16895G>A commonName G>A TP53_g.16895G>A protEffect p.Arg335His TP53_g.11366_11367ins16 commonName ins16 TP53_g.12523_12540del commonName del18 TP53_g.13892_13893ins23 commonName ins23 TP53_g.16912del commonName del1 TP53_g.12463_12464del commonName del2 TP53_g.13800_13801del commonName del2 TP53_g.13390_13391ins3 commonName ins3 TP53_g.11332C>T commonName C>T TP53_g.11332C>T protEffect p.Pro34Leu TP53_g.11460_11461del commonName del2 TP53_g.11488C>T commonName C>T TP53_g.11488C>T protEffect p.Ala86Val TP53_g.11567C>T commonName C>T TP53_g.11567C>T protEffect p.Gly112Gly TP53_g.12403_12404del commonName del2 TP53_g.12457_12464del commonName del8 TP53_g.12549T>A commonName T>A TP53_g.12661_12671del commonName del11 TP53_g.13388_13389del commonName del2 TP53_g.13872_13883del commonName del12 TP53_g.14029_14030ins4 commonName ins4 TP53_g.11328del commonName del1 TP53_g.11352del commonName del1 TP53_g.11469_11475del commonName del7 TP53_g.11517_11518del commonName del2 TP53_g.12688_12695del commonName del8 TP53_g.12712_12715del commonName del4 TP53_g.12739del commonName del1 TP53_g.13390_13391ins1 commonName ins1 TP53_g.13415_13417del commonName del3 TP53_g.13806_13821del commonName del16 TP53_g.13848_13863del commonName del16 TP53_g.13878_13881del commonName del4 TP53_g.12386T>G commonName T>G TP53_g.12386T>G protEffect p.Met133Arg TP53_g.13844T>A commonName T>A TP53_g.13844T>A protEffect p.Asn288Lys TP53_g.12457_12462del commonName del6 TP53_g.12690T>A commonName T>A TP53_g.12690T>A protEffect p.Asp207Glu TP53_g.12447_12448ins3 commonName ins3 TP53_g.12483_12484ins9 commonName ins9 TP53_g.11605C>A commonName C>A TP53_g.11605C>A protEffect p.Thr125Lys TP53_g.11417A>G commonName A>G TP53_g.11417A>G protEffect p.Glu62Glu TP53_g.11393C>T commonName C>T TP53_g.11393C>T protEffect p.Phe54Phe TP53_g.11482C>G commonName C>G TP53_g.11482C>G protEffect p.Ala84Gly TP53_g.13314G>C commonName G>C TP53_g.13314G>C protEffect p.Gly226Ala TP53_g.14027A>G commonName A>G TP53_g.14027A>G protEffect p.Lys319Glu TP53_g.12730del commonName del1 TP53_g.12393_12394ins3 commonName ins3 TP53_g.13771T>C commonName T>C TP53_g.13771T>C protEffect p.Leu264Pro TP53_g.13791_13792delinsCC commonName GA>CC TP53_g.13791_13792delinsCC protEffect p.Glu271Pro TP53_g.13986_13987ins1 commonName ins1 TP53_g.11559C>A commonName C>A TP53_g.11559C>A protEffect p.Arg110Ser TP53_g.13815_13816del commonName del2 TP53_g.13874_13875ins10 commonName ins10 TP53_g.13372_13373ins1 commonName ins1 TP53_g.30014del commonName del1 TP53_g.30016_30017ins1 commonName ins1 TP53_g.12370C>G commonName C>G TP53_g.12370C>G protEffect p.Pro128Ala TP53_g.30018del commonName del1 TP53_g.30015del commonName del1 TP53_g.13310G>T commonName G>T TP53_g.13310G>T protEffect p.Val225Phe TP53_g.13418_13426del commonName del9 TP53_g.13376_13387del commonName del12 TP53_g.14037C>T commonName C>T TP53_g.14037C>T protEffect p.Pro322Leu TP53_g.11611G>A commonName G>A TP53_g.11327G>A commonName G>A TP53_g.14030_14032del commonName del3 TP53_g.13333_13334ins11 commonName ins11 TP53_g.12733del commonName del1 TP53_g.12487_12496del commonName del10 TP53_g.12664_12694del commonName del31 TP53_g.13325_13334del commonName del10 TP53_g.13866_13887del commonName del22 TP53_g.13887_13889delinsGT commonName AGC>GT TP53_g.12403A>T commonName A>T TP53_g.12403A>T protEffect p.Lys139STOP TP53_g.16906_16926del commonName del21 TP53_g.16901G>C commonName G>C TP53_g.16901G>C protEffect p.Arg337Pro TP53_g.13894A>T commonName A>T TP53_g.13894A>T protEffect p.Lys305Met TP53_g.13812_13813del commonName del2 TP53_g.12547_12563del commonName del17 TP53_g.11459A>T commonName A>T TP53_g.11459A>T protEffect p.Ala76Ala TP53_g.11517T>C commonName T>C TP53_g.11517T>C protEffect p.Ser96Pro TP53_g.13994C>A commonName C>A TP53_g.13994C>A protEffect p.Leu308Met TP53_g.16903T>A commonName T>A TP53_g.16903T>A protEffect p.Phe338Ile TP53_g.12738_12739ins6 commonName ins6 TP53_g.13313_13314del commonName del2 TP53_g.12366_12370delinsA commonName CTCCC>A TP53_g.13366_13367ins9 commonName ins9 TP53_g.13790_13791ins6 commonName ins6 TP53_g.12445del commonName del1 TP53_g.13818_13820del commonName del3 TP53_g.12401_12402delinsTA commonName CC>TA TP53_g.12401_12402delinsTA protEffect p.Ala138Val TP53_g.12454_12456del commonName del3 TP53_g.13322_13328del commonName del7 TP53_g.13878_13879del commonName del2 TP53_g.12423G>A commonName G>A TP53_g.12423G>A protEffect p.Leu145Leu TP53_g.12521A>G commonName A>G TP53_g.12521A>G protEffect p.His178Arg TP53_g.12382_12402del commonName del21 TP53_g.12431A>T commonName A>T TP53_g.12431A>T protEffect p.Asp148Val TP53_g.13325del commonName del1 TP53_g.11566G>A commonName G>A TP53_g.11566G>A protEffect p.Gly112Asp TP53_g.12550G>A commonName G>A TP53_g.12687G>A commonName G>A TP53_g.12687G>A protEffect p.Leu206Leu TP53_g.12441C>A commonName C>A TP53_g.12441C>A protEffect p.Pro151Pro TP53_g.12541A>T commonName A>T TP53_g.12541A>T protEffect p.Ser185Cys TP53_g.12543_12544ins1 commonName ins1 TP53_g.12538_12539ins1 commonName ins1 TP53_g.12628_12629ins1 commonName ins1 TP53_g.13339C>T commonName C>T TP53_g.13339C>T protEffect p.Tyr234Tyr TP53_g.13339_13340ins1 commonName ins1 TP53_g.13773C>A commonName C>A TP53_g.13773C>A protEffect p.Leu265Met TP53_g.17940_17941ins2 commonName ins2 TP53_g.12657_12658ins2 commonName ins2 TP53_g.13349_13350delinsCA commonName TG>CA TP53_g.13349_13350delinsCA protEffect p.Cys238His TP53_g.12426G>C commonName G>C TP53_g.12426G>C protEffect p.Trp146Cys TP53_g.12519_12520delinsAT commonName CC>AT TP53_g.12519_12520delinsAT protEffect H178Y TP53_g.13322_13323delinsAA commonName TG>AA TP53_g.13322_13323delinsAA protEffect p.Cys229Asn TP53_g.17917A>C commonName A>C TP53_g.17917A>C protEffect p.Lys370Gln TP53_g.12434_12435delinsTT commonName CC>TT TP53_g.12434_12435delinsTT protEffect p.Ser149Phe TP53_g.13781_13782ins13 commonName ins13 TP53_g.12495_12496ins2 commonName ins2 TP53_g.30005_30006del commonName del2 TP53_g.12702_12703ins3 commonName ins3 TP53_g.12479A>C commonName A>C TP53_g.12479A>C protEffect p.Lys164Thr TP53_g.11411A>T commonName A>T TP53_g.11411A>T protEffect p.Pro60Pro TP53_g.11508C>A commonName C>A TP53_g.11508C>A protEffect p.Leu93Met TP53_g.14029G>T commonName G>T TP53_g.14029G>T protEffect p.Lys319Asn TP53_g.12446C>A commonName C>A TP53_g.12446C>A protEffect p.Pro153His TP53_g.11560del commonName del1 TP53_g.12424T>G commonName T>G TP53_g.12424T>G protEffect p.Trp146Gly TP53_g.11449T>A commonName T>A TP53_g.11449T>A protEffect p.Val73Glu TP53_g.12483G>T commonName G>T TP53_g.12483G>T protEffect p.Gln165His TP53_g.14010G>A commonName G>A TP53_g.14010G>A protEffect p.Ser313Asn TP53_g.30003del commonName del1 TP53_g.12394_12405del commonName del12 TP53_g.13882C>A commonName C>A TP53_g.13882C>A protEffect p.Pro301Gln TP53_g.13313_13314delinsAA commonName GG>AA TP53_g.13313_13314delinsAA protEffect p.Gly226Asn TP53_g.13880_13881delinsTT commonName CC>TT TP53_g.13880_13881delinsTT protEffect P301S TP53_g.13357_13358delinsCC commonName TT>CC TP53_g.13357_13358delinsCC protEffect S241P TP53_g.13853G>T commonName G>T TP53_g.13853G>T protEffect p.Lys291Asn TP53_g.12607A>G commonName A>G TP53_g.13793_13794ins1 commonName ins1 TP53_g.13790_13791ins1 commonName ins1 TP53_g.11406_11407delinsAA commonName GG>AA TP53_g.11406_11407delinsAA protEffect p.Gly59Asn TP53_g.12519_12520delinsTT commonName CC>TT TP53_g.12519_12520delinsTT protEffect H178Y TP53_g.12518_12519delinsAT commonName CC>AT TP53_g.12518_12519delinsAT protEffect p.Pro177His TP53_g.13419_13420delinsAA commonName GG>AA TP53_g.13419_13420delinsAA protEffect p.Ser261Asn TP53_g.13370_13371delinsTT commonName GG>TT TP53_g.13370_13371delinsTT protEffect p.Gly245Phe TP53_g.30002_30025del commonName del24 TP53_g.12493_12494ins1 commonName ins1 TP53_g.13364A>C commonName A>C TP53_g.13364A>C protEffect p.Met243Leu TP53_g.16934T>A commonName T>A TP53_g.16934T>A protEffect p.Leu348STOP TP53_g.13869C>G commonName C>G TP53_g.13869C>G protEffect p.His297Asp TP53_g.12394_12409del commonName del16 TP53_g.12432_12433ins1 commonName ins1 TP53_g.12711_12712del commonName del2 TP53_g.13318_13319ins1 commonName ins1 TP53_g.14054_14059del commonName del6 TP53_g.16904_16905ins18 commonName ins18 TP53_g.13369_13370ins1 commonName ins1 TP53_g.12480G>C commonName G>C TP53_g.12480G>C protEffect p.Lys164Asn TP53_g.11340T>C commonName T>C TP53_g.11340T>C protEffect p.Ser37Pro TP53_g.13340A>C commonName A>C TP53_g.13340A>C protEffect p.Asn235His TP53_g.12441C>G commonName C>G TP53_g.12441C>G protEffect p.Pro151Pro TP53_g.13817G>T commonName G>T TP53_g.13817G>T protEffect p.Gly279Gly TP53_g.12404_12405ins1 commonName ins1 TP53_g.12758G>C commonName G>C TP53_g.13329C>A commonName C>A TP53_g.13329C>A protEffect p.Thr231Asn TP53_g.13776_13793del commonName del18 TP53_g.12392_12393ins1 commonName ins1 TP53_g.11447_11448ins1 commonName ins1 TP53_g.13315C>A commonName C>A TP53_g.13315C>A protEffect p.Gly226Gly TP53_g.13886G>C commonName G>C TP53_g.13886G>C protEffect p.Gly302Gly TP53_g.12678G>C commonName G>C TP53_g.12678G>C protEffect p.Val203Val TP53_g.12402C>A commonName C>A TP53_g.12402C>A protEffect p.Ala138Ala TP53_g.14006del commonName del1 TP53_g.12450_12451ins1 commonName ins1 TP53_g.12472_12474delinsGTT commonName ATC>GTT TP53_g.12472_12474delinsGTT protEffect I162V TP53_g.12377T>C commonName T>C TP53_g.12377T>C protEffect p.Leu130Pro TP53_g.13377_13378delinsTA commonName AC>TA TP53_g.13377_13378delinsTA protEffect p.Asn247Ile TP53_g.30002_30027del commonName del26 TP53_g.11457G>A commonName G>A TP53_g.11457G>A protEffect p.Ala76Thr TP53_g.12385A>G commonName A>G TP53_g.12385A>G protEffect p.Met133Val TP53_g.11453C>T commonName C>T TP53_g.11453C>T protEffect p.Ala74Ala TP53_g.13354C>T commonName C>T TP53_g.13354C>T protEffect p.Asn239Asn TP53_g.12775G>A commonName G>A TP53_g.13424G>A commonName G>A TP53_g.11382_11385del commonName del4 TP53_g.13882_13886del commonName del5 TP53_g.11458C>G commonName C>G TP53_g.11458C>G protEffect p.Ala76Gly TP53_g.13382A>C commonName A>C TP53_g.13382A>C protEffect p.Arg249Arg TP53_g.11589_11718del commonName del130 TP53_g.11444C>T commonName C>T TP53_g.11444C>T protEffect p.Pro71Pro TP53_g.11444_11445ins1 commonName ins1 TP53_g.11525T>A commonName T>A TP53_g.11525T>A protEffect p.Pro98Pro TP53_g.12433_12434del commonName del2 TP53_g.13866del commonName del1 TP53_g.13421T>G commonName T>G TP53_g.12536C>A commonName C>A TP53_g.12536C>A protEffect p.Ser183STOP TP53_g.12448G>T commonName G>T TP53_g.12448G>T protEffect p.Gly154Cys TP53_g.12541A>G commonName A>G TP53_g.12541A>G protEffect p.Ser185Gly TP53_g.12661_12662ins1 commonName ins1 TP53_g.12691G>C commonName G>C TP53_g.12691G>C protEffect p.Asp208His TP53_g.14064A>C commonName A>C TP53_g.14064A>C protEffect p.Gln331Pro TP53_g.14030_14031ins2 commonName ins2 TP53_g.14064_14065delinsCA commonName AG>CA TP53_g.14064_14065delinsCA protEffect p.Gln331Pro TP53_g.12435_12436ins8 commonName ins8 TP53_g.12444_12445ins8 commonName ins8 TP53_g.12460_12472del commonName del13 TP53_g.12499_12504del commonName del6 TP53_g.13309_13310ins6 commonName ins6 TP53_g.13360_13361ins3 commonName ins3 TP53_g.13411_13412ins1 commonName ins1 TP53_g.13775_13776ins10 commonName ins10 TP53_g.13824_13841del commonName del18 TP53_g.13827_13846del commonName del20 TP53_g.12430_12432del commonName del3 TP53_g.12457_12474del commonName del18 TP53_g.12475_12493del commonName del19 TP53_g.12487_12491del commonName del5 TP53_g.13345_13346ins6 commonName ins6 TP53_g.13351_13352ins4 commonName ins4 TP53_g.13818_13823del commonName del6 TP53_g.13827_13845del commonName del19 TP53_g.14045G>T commonName G>T TP53_g.14045G>T protEffect p.Gly325STOP TP53_g.14039_14056del commonName del18 TP53_g.12726C>T commonName C>T TP53_g.12726C>T protEffect p.Pro219Pro TP53_g.12540_12541ins2 commonName ins2 TP53_g.11384_11385ins3 commonName ins3 TP53_g.12413C>A commonName C>A TP53_g.12413C>A protEffect p.Pro142His TP53_g.12477_12489del commonName del13 TP53_g.13350_13356del commonName del7 TP53_g.11530A>G commonName A>G TP53_g.11530A>G protEffect p.Gln100Arg TP53_g.12406_12419del commonName del14 TP53_g.12515_12516del commonName del2 TP53_g.12631_12658del commonName del28 TP53_g.13339_13340ins9 commonName ins9 TP53_g.13385_13386del commonName del2 TP53_g.13766_13767ins9 commonName ins9 TP53_g.13796_13797ins25 commonName ins25 TP53_g.14061T>G commonName T>G TP53_g.14061T>G protEffect p.Leu330Arg TP53_g.12517_12535del commonName del19 TP53_g.12542G>A commonName G>A TP53_g.12542G>A protEffect p.Ser185Asn TP53_g.12489_12490delinsTG commonName GC>TG TP53_g.12489_12490delinsTG protEffect Q167H;H168D] TP53_g.12521A>T commonName A>T TP53_g.12521A>T protEffect p.His178Leu TP53_g.12396A>C commonName A>C TP53_g.12396A>C protEffect p.Gln136His TP53_g.12648_12649ins1 commonName ins1 TP53_g.12469_12470delinsTT commonName GC>TT TP53_g.12469_12470delinsTT protEffect p.Ala161Phe TP53_g.13357_13358ins1 commonName ins1 TP53_g.13403A>C commonName A>C TP53_g.13403A>C protEffect p.Thr256Pro TP53_g.14052_14053del commonName del2 TP53_g.13873A>T commonName A>T TP53_g.13873A>T protEffect p.Glu298Val TP53_g.11419del commonName del1 TP53_g.13842_13846del commonName del5 TP53_g.13872_13876del commonName del5 TP53_g.12459_12460del commonName del2 TP53_g.13416_13417ins1 commonName ins1 TP53_g.11466_11495del commonName del30 TP53_g.12388_12389ins1 commonName ins1 TP53_g.12474C>A commonName C>A TP53_g.12474C>A protEffect p.Ile162Ile TP53_g.12350_12372del commonName del23 TP53_g.13274del commonName del1 TP53_g.12730G>C commonName G>C TP53_g.12730G>C protEffect p.Glu221Gln TP53_g.12660G>T commonName G>T TP53_g.12660G>T protEffect p.Val197Val TP53_g.12633G>A commonName G>A TP53_g.12633G>A protEffect p.Leu188Leu TP53_g.12682_12683ins1 commonName ins1 TP53_g.11568_11586del commonName del19 TP53_g.12415_12421del commonName del7 TP53_g.12431_12432del commonName del2 TP53_g.12452_12466del commonName del15 TP53_g.12460_12461delinsTT commonName CG>TT TP53_g.12460_12461delinsTT protEffect p.Arg158Phe TP53_g.12498_12505del commonName del8 TP53_g.13412_13452del commonName del41 TP53_g.12689A>T commonName A>T TP53_g.12689A>T protEffect p.Asp207Val TP53_g.12700_12701del commonName del2 TP53_g.13352_13354del commonName del3 TP53_g.13352_13354del protEffect N239del TP53_g.13371_13372del commonName del2 TP53_g.13777_13778ins1 commonName ins1 TP53_g.13832del commonName del1 TP53_g.13834_13835ins48 commonName ins48 TP53_g.13848_13849ins33 commonName ins33 TP53_g.13861del commonName del1 TP53_g.13337_13339delinsAAA commonName TAC>AAA TP53_g.13337_13339delinsAAA protEffect Y234K TP53_g.12767G>A commonName G>A TP53_g.14019C>T commonName C>T TP53_g.14019C>T protEffect p.Pro316Leu TP53_g.13901T>G commonName T>G TP53_g.12742G>C commonName G>C TP53_g.13909C>T commonName C>T TP53_g.12758G>T commonName G>T TP53_g.13971C>T commonName C>T TP53_g.12781G>T commonName G>T TP53_g.12773G>T commonName G>T TP53_g.12457_12459del commonName del3 TP53_g.13914C>T commonName C>T TP53_g.12766_12767delinsAA commonName GG>AA TP53_g.12522C>A commonName C>A TP53_g.12522C>A protEffect p.His178Gln TP53_g.12766G>A commonName G>A TP53_g.13828_13857del commonName del30 TP53_g.12520_12522del commonName del3 TP53_g.12429_12430ins4 commonName ins4 TP53_g.13781del commonName del1 TP53_g.13774T>G commonName T>G TP53_g.13774T>G protEffect p.Leu265Arg TP53_g.12521_12522ins1 commonName ins1 TP53_g.13847_13854del commonName del8 TP53_g.12368_12389del commonName del22 TP53_g.13325A>C commonName A>C TP53_g.13325A>C protEffect p.Thr230Pro TP53_g.13352_13364del commonName del13 TP53_g.13817G>A commonName G>A TP53_g.13817G>A protEffect p.Gly279Gly TP53_g.11343C>T commonName C>T TP53_g.11343C>T protEffect p.Gln38STOP TP53_g.12718_12762del commonName del45 TP53_g.12385_12392del commonName del8 TP53_g.11454C>T commonName C>T TP53_g.11454C>T protEffect p.Pro75Ser TP53_g.11575del commonName del1 TP53_g.11393_11394ins22 commonName ins22 TP53_g.12540_12545del commonName del6 TP53_g.12361_12362ins1 commonName ins1 TP53_g.12392_12393ins4 commonName ins4 TP53_g.11548del commonName del1 TP53_g.11436_11437del commonName del2 TP53_g.13874del commonName del1 TP53_g.12529_12530ins18 commonName ins18 TP53_g.13787_13788ins3 commonName ins3 TP53_g.12390_12407del commonName del18 TP53_g.12479_12482del commonName del4 TP53_g.12510_12521del commonName del12 TP53_g.13826G>C commonName G>C TP53_g.13826G>C protEffect p.Arg282Arg TP53_g.12468_12469delinsTT commonName GG>TT TP53_g.12468_12469delinsTT protEffect M160I;A161S] TP53_g.13381_13382del commonName del2 TP53_g.12700_12724del commonName del25 TP53_g.11569_11571del commonName del3 TP53_g.13898_13899ins74 commonName ins74 TP53_g.12417_12418delinsTT commonName GC>TT TP53_g.12417_12418delinsTT protEffect Q144X TP53_g.12439_12440ins1 commonName ins1 TP53_g.13313_13321del commonName del9 TP53_g.11512C>A commonName C>A TP53_g.11512C>A protEffect p.Ser94STOP TP53_g.16913del commonName del1 TP53_g.12457_12469del commonName del13 TP53_g.12664_12682del commonName del19 TP53_g.13819_13820del commonName del2 TP53_g.14008del commonName del1 TP53_g.11540_11541delinsAT commonName CC>AT TP53_g.11540_11541delinsAT protEffect Y103X TP53_g.12469_12470del commonName del2 TP53_g.12501G>T commonName G>T TP53_g.12501G>T protEffect p.Glu171Asp TP53_g.12384del commonName del1 TP53_g.13366_13367delinsTT commonName GG>TT TP53_g.13366_13367delinsTT protEffect M243I;G244C] TP53_g.13815_13836del commonName del22 TP53_g.13376_13384del commonName del9 TP53_g.13360_13361ins8 commonName ins8 TP53_g.13862_13865delinsACC commonName GCCT>ACC TP53_g.13861A>T commonName A>T TP53_g.13861A>T protEffect p.Glu294Val TP53_g.13891C>A commonName C>A TP53_g.13891C>A protEffect p.Thr304Asn TP53_g.13871_13872ins1 commonName ins1 TP53_g.13993_13994ins1 commonName ins1 TP53_g.13414_13415ins1 commonName ins1 TP53_g.12514_12515ins1 commonName ins1 TP53_g.12647_12648ins1 commonName ins1 TP53_g.11597_11608del commonName del12 TP53_g.13347_13348delinsCC commonName TG>CC TP53_g.13347_13348delinsCC protEffect p.Met237Thr TP53_g.12639T>C commonName T>C TP53_g.12639T>C protEffect p.Pro190Pro TP53_g.12645_12646delinsTT commonName GC>TT TP53_g.12645_12646delinsTT protEffect Q192H;H193Y] TP53_g.12430_12432delinsTAG commonName GAT>TAG TP53_g.12430_12432delinsTAG protEffect D148X TP53_g.12443del commonName del1 TP53_g.13379_13380delinsTT commonName CG>TT TP53_g.13379_13380delinsTT protEffect p.Arg248Leu TP53_g.13813del commonName del1 TP53_g.13836_13837del commonName del2 TP53_g.13825_13826delinsTC commonName GG>TC TP53_g.13825_13826delinsTC protEffect p.Arg282Leu TP53_g.13844T>C commonName T>C TP53_g.13844T>C protEffect p.Asn288Asn TP53_g.13858_13859delinsCC commonName GG>CC TP53_g.13858_13859delinsCC protEffect p.Gly293Ala TP53_g.13868C>G commonName C>G TP53_g.13868C>G protEffect p.His296Gln TP53_g.13822del commonName del1 TP53_g.13413_13414delinsGT commonName AC>GT TP53_g.13413_13414delinsGT protEffect p.Asp259Gly TP53_g.12527A>T commonName A>T TP53_g.12527A>T protEffect p.Glu180Val TP53_g.13319_13320delinsCC commonName GA>CC TP53_g.13319_13320delinsCC protEffect p.Asp228Pro TP53_g.13844_13845delinsCT commonName TC>CT TP53_g.13844_13845delinsCT protEffect L289F TP53_g.13391C>G commonName C>G TP53_g.13391C>G protEffect p.Leu252Val TP53_g.13836_13837delinsTT commonName GA>TT TP53_g.13836_13837delinsTT protEffect p.Glu286Leu TP53_g.13317C>G commonName C>G TP53_g.13317C>G protEffect p.Ser227Cys TP53_g.13348del commonName del1 TP53_g.12445C>G commonName C>G TP53_g.12445C>G protEffect p.Pro153Ala TP53_g.13383_13384delinsCC commonName GG>CC TP53_g.13383_13384delinsCC protEffect p.Arg249Thr TP53_g.12426del commonName del1 TP53_g.12464C>G commonName C>G TP53_g.12464C>G protEffect p.Ala159Gly TP53_g.12644_12645delinsCC commonName AG>CC TP53_g.12644_12645delinsCC protEffect p.Gln192Pro TP53_g.12693C>T commonName C>T TP53_g.12693C>T protEffect p.Asp208Asp TP53_g.13419G>T commonName G>T TP53_g.13419G>T protEffect p.Ser261Ile TP53_g.12382A>T commonName A>T TP53_g.12382A>T protEffect p.Lys132STOP TP53_g.12709_12716del commonName del8 TP53_g.12455del commonName del1 TP53_g.13320A>T commonName A>T TP53_g.13320A>T protEffect p.Asp228Val TP53_g.16885A>G commonName A>G TP53_g.16885A>G protEffect p.Ile332Val TP53_g.11417A>C commonName A>C TP53_g.11417A>C protEffect p.Glu62Asp TP53_g.11412G>A commonName G>A TP53_g.11412G>A protEffect p.Asp61Asn TP53_g.12489G>C commonName G>C TP53_g.12489G>C protEffect p.Gln167His TP53_g.12638C>A commonName C>A TP53_g.12638C>A protEffect p.Pro190His TP53_g.11418G>A commonName G>A TP53_g.11418G>A protEffect p.Ala63Thr TP53_g.11512C>G commonName C>G TP53_g.11512C>G protEffect p.Ser94STOP TP53_g.14066_14067delinsAC commonName GT>AC TP53_g.12380_12382del commonName del3 TP53_g.12518_12527del commonName del10 TP53_g.12433_12434ins1 commonName ins1 TP53_g.14043_14044del commonName del2 TP53_g.16917_16918ins18 commonName ins18 TP53_g.13832_13846del commonName del15 TP53_g.13996_14000del commonName del5 TP53_g.12436A>C commonName A>C TP53_g.12436A>C protEffect p.Thr150Pro TP53_g.13369_13370delinsAT commonName CG>AT TP53_g.13369_13370delinsAT protEffect G245C TP53_g.13991G>C commonName G>C TP53_g.13831_13832del commonName del2 TP53_g.13777_13778del commonName del2 TP53_g.13409_13410ins3 commonName ins3 TP53_g.14021C>A commonName C>A TP53_g.14021C>A protEffect p.Gln317Lys TP53_g.13766_13767delinsAC commonName TA>AC TP53_g.13766_13767delinsAC protEffect N263H TP53_g.13768A>T commonName A>T TP53_g.13768A>T protEffect p.Asn263Ile TP53_g.13853_13854del commonName del2 TP53_g.13370_13377del commonName del8 TP53_g.11518C>G commonName C>G TP53_g.11518C>G protEffect p.Ser96Cys TP53_g.13377_13382del commonName del6 TP53_g.12499G>C commonName G>C TP53_g.12499G>C protEffect p.Glu171Gln TP53_g.12689_12690ins1 commonName ins1 TP53_g.12692_12718del commonName del27 TP53_g.11607G>C commonName G>C TP53_g.13772_13773ins2 commonName ins2 TP53_g.13806_13807ins2 commonName ins2 TP53_g.13387_13388ins18 commonName ins18 TP53_g.12642_12643ins40 commonName ins40 TP53_g.12362del commonName del1 TP53_g.13764_13769del commonName del6 TP53_g.12449G>C commonName G>C TP53_g.12449G>C protEffect p.Gly154Ala TP53_g.13801_13806del commonName del6 TP53_g.12652_12653ins1 commonName ins1 TP53_g.12364T>C commonName T>C TP53_g.12364T>C protEffect p.Tyr126His TP53_g.13352_13353ins1 commonName ins1 TP53_g.11340del commonName del1 TP53_g.13798_13799ins1 commonName ins1 TP53_g.12371C>G commonName C>G TP53_g.12371C>G protEffect p.Pro128Arg TP53_g.12547_12548delinsAA commonName GG>AA TP53_g.12547_12548delinsAA protEffect p.Gly187Asn TP53_g.11469C>T commonName C>T TP53_g.11469C>T protEffect p.Pro80Ser TP53_g.12738_12777del commonName del40 TP53_g.13864C>G commonName C>G TP53_g.13864C>G protEffect p.Pro295Arg TP53_g.12374_12377del commonName del4 TP53_g.12432del commonName del1 TP53_g.12510_12511del commonName del2 TP53_g.12699_12700del commonName del2 TP53_g.13359_13361del commonName del3 TP53_g.13386del commonName del1 TP53_g.13407_13408del commonName del2 TP53_g.13777_13794del commonName del18 TP53_g.13859del commonName del1 TP53_g.12612_12623del commonName del12 TP53_g.12475T>G commonName T>G TP53_g.12475T>G protEffect p.Tyr163Asp TP53_g.13334C>G commonName C>G TP53_g.13334C>G protEffect p.His233Asp TP53_g.12676_12677delinsTG commonName GT>TG TP53_g.12676_12677delinsTG protEffect p.Val203Trp TP53_g.12418_12431del commonName del14 TP53_g.11605C>G commonName C>G TP53_g.11605C>G protEffect p.Thr125Arg TP53_g.11478_11481del commonName del4 TP53_g.11538_11553del commonName del16 TP53_g.13411del commonName del1 TP53_g.12510_12511ins1 commonName ins1 TP53_g.13339_13340ins3 commonName ins3 TP53_g.11451G>A commonName G>A TP53_g.11451G>A protEffect p.Ala74Thr TP53_g.12651T>A commonName T>A TP53_g.12651T>A protEffect p.Leu194Leu TP53_g.13383_13384del commonName del2 TP53_g.12699del commonName del1 TP53_g.13816G>T commonName G>T TP53_g.13816G>T protEffect p.Gly279Val TP53_g.13868_13869delinsTT commonName CC>TT TP53_g.13868_13869delinsTT protEffect H297Y TP53_g.13870del commonName del1 TP53_g.11523C>T commonName C>T TP53_g.11523C>T protEffect p.Pro98Ser TP53_g.12689_12696del commonName del8 TP53_g.13854del commonName del1 TP53_g.13831C>T commonName C>T TP53_g.13831C>T protEffect p.Thr284Ile TP53_g.12367_12370del commonName del4 TP53_g.12469_12475del commonName del7 TP53_g.11369C>T commonName C>T TP53_g.11369C>T protEffect p.Ser46Ser TP53_g.11437del commonName del1 TP53_g.11597G>A commonName G>A TP53_g.11597G>A protEffect p.Val122Val TP53_g.12396del commonName del1 TP53_g.11378_11379del commonName del2 TP53_g.11608T>A commonName T>A TP53_g.13354_13355ins3 commonName ins3 TP53_g.13384_13385delinsTT commonName GC>TT TP53_g.13384_13385delinsTT protEffect R249S;P250S] TP53_g.13398_13405del commonName del8 TP53_g.13882_13883ins1 commonName ins1 TP53_g.14005del commonName del1 TP53_g.14031del commonName del1 TP53_g.14043del commonName del1 TP53_g.12478_12481del commonName del4 TP53_g.13340_13345del commonName del6 TP53_g.13806_13809del commonName del4 TP53_g.13846T>G commonName T>G TP53_g.13846T>G protEffect p.Leu289Arg TP53_g.11504_11505del commonName del2 TP53_g.13343_13344ins1 commonName ins1 TP53_g.11565_11566del commonName del2 TP53_g.12499_12524del commonName del26 TP53_g.12679del commonName del1 TP53_g.13791_13792del commonName del2 TP53_g.13785A>C commonName A>C TP53_g.13785A>C protEffect p.Ser269Arg TP53_g.11579_11580ins1 commonName ins1 TP53_g.12484_12485delinsGG commonName TC>GG TP53_g.12484_12485delinsGG protEffect p.Ser166Gly TP53_g.13897G>A commonName G>A TP53_g.13897G>A protEffect p.Arg306Gln TP53_g.14040_14042del commonName del3 TP53_g.14045_14050del commonName del6 TP53_g.12675_12676ins8 commonName ins8 TP53_g.13783A>T commonName A>T TP53_g.13783A>T protEffect p.Asn268Ile TP53_g.12492C>G commonName C>G TP53_g.12492C>G protEffect p.His168Gln TP53_g.12715_12729del commonName del15 TP53_g.11367_11378del commonName del12 TP53_g.11359T>A commonName T>A TP53_g.11359T>A protEffect p.Leu43STOP TP53_g.11599C>A commonName C>A TP53_g.11599C>A protEffect p.Thr123Asn TP53_g.13409del commonName del1 TP53_g.12721_12729del commonName del9 TP53_g.12406_12410del commonName del5 TP53_g.14024del commonName del1 TP53_g.13834A>C commonName A>C TP53_g.13834A>C protEffect p.Glu285Ala TP53_g.16896_16897ins4 commonName ins4 TP53_g.13417_13418ins200 commonName ins200 TP53_g.13899_13917del commonName del19 TP53_g.12724_12725delinsTG commonName CC>TG TP53_g.12724_12725delinsTG protEffect p.Pro219Cys TP53_g.13310_13318del commonName del9 TP53_g.12376_12378del commonName del3 TP53_g.13349_13375del commonName del27 TP53_g.13348_13349ins3 commonName ins3 TP53_g.13381_13382ins13 commonName ins13 TP53_g.13367_13368del commonName del2 TP53_g.11440_11441ins2 commonName ins2 TP53_g.13376_13392del commonName del17 TP53_g.13339_13340ins6 commonName ins6 TP53_g.12364_12371del commonName del8 TP53_g.12377T>A commonName T>A TP53_g.12377T>A protEffect p.Leu130His TP53_g.13899_13900del commonName del2 TP53_g.12726_12727ins1 commonName ins1 TP53_g.11552C>T commonName C>T TP53_g.11552C>T protEffect p.Tyr107Tyr TP53_g.11399A>G commonName A>G TP53_g.11399A>G protEffect p.Glu56Glu TP53_g.11534A>T commonName A>T TP53_g.11534A>T protEffect p.Lys101Asn TP53_g.11483C>T commonName C>T TP53_g.11483C>T protEffect p.Ala84Ala TP53_g.12543C>G commonName C>G TP53_g.12543C>G protEffect p.Ser185Arg TP53_g.13890A>T commonName A>T TP53_g.13890A>T protEffect p.Thr304Ser TP53_g.13775G>T commonName G>T TP53_g.13775G>T protEffect p.Leu265Leu TP53_g.12441_12442delinsT commonName CC>T TP53_g.14020C>A commonName C>A TP53_g.14020C>A protEffect p.Pro316Pro TP53_g.12452_12453delinsTG commonName CC>TG TP53_g.12452_12453delinsTG protEffect p.Thr155Met TP53_g.16916G>T commonName G>T TP53_g.16916G>T protEffect p.Arg342Leu TP53_g.13780_13781delinsAT commonName GG>AT TP53_g.13780_13781delinsAT protEffect p.Arg267His TP53_g.12488del commonName del1 TP53_g.11572_11585del commonName del14 TP53_g.12364_12377del commonName del14 TP53_g.13354_13355ins7 commonName ins7 TP53_g.12433_12445del commonName del13 TP53_g.11469del commonName del1 TP53_g.11550_11560del commonName del11 TP53_g.12714_12715ins2 commonName ins2 TP53_g.11516_11517ins1 commonName ins1 TP53_g.13314G>T commonName G>T TP53_g.13314G>T protEffect p.Gly226Val TP53_g.11433del commonName del1 TP53_g.12648del commonName del1 TP53_g.12635_12643del commonName del9 TP53_g.11546_11551del commonName del6 TP53_g.12501_12502ins1 commonName ins1 TP53_g.12492_12493ins2 commonName ins2 TP53_g.13390del commonName del1 TP53_g.11594_11600del commonName del7 TP53_g.11532del commonName del1 TP53_g.11593_11594del commonName del2 TP53_g.12650del commonName del1 TP53_g.11432_11433ins1 commonName ins1 TP53_g.11477G>A commonName G>A TP53_g.11477G>A protEffect p.Pro82Pro TP53_g.13814_13815ins15 commonName ins15 TP53_g.11448del commonName del1 TP53_g.11478del commonName del1 TP53_g.11549_11550ins3 commonName ins3 TP53_g.12672_12673ins15 commonName ins15 TP53_g.30004_30034del commonName del31 TP53_g.13773_13787del commonName del15 TP53_g.13872del commonName del1 TP53_g.12526_12527ins2 commonName ins2 TP53_g.13888_13889ins1 commonName ins1 TP53_g.13408_13409ins1 commonName ins1 TP53_g.12526_12527ins1 commonName ins1 TP53_g.13409_13410ins1 commonName ins1 TP53_g.13336del commonName del1 TP53_g.12397C>G commonName C>G TP53_g.12397C>G protEffect p.Leu137Val TP53_g.12673C>G commonName C>G TP53_g.12673C>G protEffect p.Arg202Gly TP53_g.13344_13345ins1 commonName ins1 TP53_g.13390_13393del commonName del4 TP53_g.11372G>A commonName G>A TP53_g.11372G>A protEffect p.Pro47Pro TP53_g.12714_12715ins1 commonName ins1 TP53_g.12439_12451del commonName del13 TP53_g.17908A>T commonName A>T TP53_g.13419G>A commonName G>A TP53_g.13419G>A protEffect p.Ser261Asn TP53_g.12457_12516del commonName del60 TP53_g.12527A>C commonName A>C TP53_g.12527A>C protEffect p.Glu180Ala TP53_g.12541A>C commonName A>C TP53_g.12541A>C protEffect p.Ser185Arg TP53_g.13886del commonName del1 TP53_g.12688del commonName del1 TP53_g.12695del commonName del1 TP53_g.13387_13388ins21 commonName ins21 TP53_g.12512_12513delinsAG commonName GC>AG TP53_g.12512_12513delinsAG protEffect p.Arg175Gln TP53_g.12416_12417delinsGT commonName TG>GT TP53_g.12416_12417delinsGT protEffect p.Val143Gly TP53_g.11425G>C commonName G>C TP53_g.11425G>C protEffect p.Arg65Thr TP53_g.11552_11553ins1 commonName ins1 TP53_g.12444_12445ins2 commonName ins2 TP53_g.13811T>G commonName T>G TP53_g.13811T>G protEffect p.Cys277Trp TP53_g.14010G>T commonName G>T TP53_g.14010G>T protEffect p.Ser313Ile TP53_g.14032G>T commonName G>T TP53_g.14032G>T protEffect p.Lys320Asn TP53_g.13354_13355ins1 commonName ins1 TP53_g.11348_11349ins1 commonName ins1 TP53_g.11390_11391ins1 commonName ins1 TP53_g.11555T>C commonName T>C TP53_g.11555T>C protEffect p.Gly108Gly TP53_g.13830_13831ins1 commonName ins1 TP53_g.11585_11586ins1 commonName ins1 TP53_g.14023_14024ins1 commonName ins1 TP53_g.12640_12653del commonName del14 TP53_g.14052A>C commonName A>C TP53_g.14052A>C protEffect p.Tyr327Ser TP53_g.11604_11638del commonName del35 TP53_g.13791_13799del commonName del9 TP53_g.11445del commonName del1 TP53_g.14020_14021ins50 commonName ins50 TP53_g.16885_16984del commonName del100 TP53_g.16885_17004del commonName del120 TP53_g.13369_13382del commonName del14 TP53_g.12390_12391ins1 commonName ins1 TP53_g.13827C>A commonName C>A TP53_g.13827C>A protEffect p.Arg283Ser TP53_g.13415_13416ins1 commonName ins1 TP53_g.11345del commonName del1 TP53_g.13353_13361del commonName del9 TP53_g.11340T>A commonName T>A TP53_g.11340T>A protEffect p.Ser37Thr TP53_g.11544G>T commonName G>T TP53_g.11544G>T protEffect p.Gly105Cys TP53_g.12454_12460del commonName del7 TP53_g.11385_11386ins4 commonName ins4 TP53_g.12433_13272del commonName del840 TP53_g.16965G>T commonName G>T TP53_g.16965G>T protEffect p.Glu358Asp TP53_g.13394_13395ins1 commonName ins1 TP53_g.11455C>T commonName C>T TP53_g.11455C>T protEffect p.Pro75Leu TP53_g.11494C>T commonName C>T TP53_g.11494C>T protEffect p.Ala88Val TP53_g.11431C>T commonName C>T TP53_g.11431C>T protEffect p.Pro67Leu TP53_g.11507C>T commonName C>T TP53_g.11507C>T protEffect p.Pro92Pro TP53_g.11597G>C commonName G>C TP53_g.11597G>C protEffect p.Val122Val TP53_g.13366_13367delinsAA commonName GG>AA TP53_g.13366_13367delinsAA protEffect M243I;G244S] TP53_g.12439_12507del commonName del69 TP53_g.13336C>G commonName C>G TP53_g.13336C>G protEffect p.His233Gln TP53_g.11553G>A commonName G>A TP53_g.11553G>A protEffect p.Gly108Ser TP53_g.12373_12735del commonName del363 TP53_g.13310_13630del commonName del321 TP53_g.12544_12545del commonName del2 TP53_g.11478_11479del commonName del2 TP53_g.12478_12611del commonName del134 TP53_g.13831_13834del commonName del4 TP53_g.12388T>G commonName T>G TP53_g.12388T>G protEffect p.Phe134Val TP53_g.12631C>T commonName C>T TP53_g.12631C>T protEffect p.Leu188Leu TP53_g.12559G>A commonName G>A TP53_g.13315C>G commonName C>G TP53_g.13315C>G protEffect p.Gly226Gly TP53_g.12759G>C commonName G>C TP53_g.13775G>A commonName G>A TP53_g.13775G>A protEffect p.Leu265Leu TP53_g.13891C>T commonName C>T TP53_g.13891C>T protEffect p.Thr304Ile TP53_g.13293C>T commonName C>T TP53_g.13845C>G commonName C>G TP53_g.13845C>G protEffect p.Leu289Val TP53_g.12437C>G commonName C>G TP53_g.12437C>G protEffect p.Thr150Arg TP53_g.12641_12643del commonName del3 TP53_g.13925delinsAT commonName G>AT TP53_g.12418C>A commonName C>A TP53_g.12418C>A protEffect p.Gln144Lys TP53_g.13856A>C commonName A>C TP53_g.13856A>C protEffect p.Lys292Asn TP53_g.13320_13321del commonName del2 TP53_g.12645_12646delinsCA commonName GC>CA TP53_g.12645_12646delinsCA protEffect Q192H;H193N] TP53_g.13420G>C commonName G>C TP53_g.12511_12529del commonName del19 TP53_g.12406_12427del commonName del22 TP53_g.13391_13401del commonName del11 TP53_g.11373del commonName del1 TP53_g.11499del commonName del1 TP53_g.12674_12675delinsCG commonName GT>CG TP53_g.12674_12675delinsCG protEffect p.Arg202Pro TP53_g.16922T>C commonName T>C TP53_g.16922T>C protEffect p.Leu344Pro TP53_g.11553_11558del commonName del6 TP53_g.11482_11483delinsTT commonName CC>TT TP53_g.11482_11483delinsTT protEffect p.Ala84Val TP53_g.13382_13405del commonName del24 TP53_g.13412del commonName del1 TP53_g.13301A>G commonName A>G TP53_g.12471_12472ins1 commonName ins1 TP53_g.13335A>G commonName A>G TP53_g.13335A>G protEffect p.His233Arg TP53_g.12703T>G commonName T>G TP53_g.12703T>G protEffect p.Phe212Val TP53_g.13313G>A commonName G>A TP53_g.13313G>A protEffect p.Gly226Ser TP53_g.13411A>G commonName A>G TP53_g.13411A>G protEffect p.Glu258Glu TP53_g.13392_13393ins1 commonName ins1 TP53_g.12440_12441ins1 commonName ins1 TP53_g.11474_11475ins1 commonName ins1 TP53_g.11374A>G commonName A>G TP53_g.11374A>G protEffect p.Asp48Gly TP53_g.13877_13878ins1 commonName ins1 TP53_g.12448_12449delinsAT commonName GG>AT TP53_g.12448_12449delinsAT protEffect p.Gly154Ile TP53_g.11499_11513del commonName del15 TP53_g.13394_13399del commonName del6 TP53_g.13769_13770ins51 commonName ins51 TP53_g.13791_13806del commonName del16 TP53_g.12522C>G commonName C>G TP53_g.12522C>G protEffect p.His178Gln TP53_g.12668A>T commonName A>T TP53_g.12668A>T protEffect p.Asn200Ile TP53_g.11385_11397del commonName del13 TP53_g.11441_11442ins1 commonName ins1 TP53_g.14022A>G commonName A>G TP53_g.14022A>G protEffect p.Gln317Arg TP53_g.12511_12516del commonName del6 TP53_g.12646_12654del commonName del9 TP53_g.12772A>G commonName A>G TP53_g.14076T>C commonName T>C TP53_g.13396_13404del commonName del9 TP53_g.11071A>G commonName A>G TP53_g.11071A>G protEffect p.Leu22Leu TP53_g.12461_12462delinsAA commonName GC>AA TP53_g.12461_12462delinsAA protEffect p.Arg158Gln TP53_g.13345_13346delinsAT commonName CA>AT TP53_g.13345_13346delinsAT protEffect Y236X TP53_g.12547_12552del commonName del6 TP53_g.16981G>C commonName G>C TP53_g.16981G>C protEffect p.Ala364Pro TP53_g.11403C>A commonName C>A TP53_g.11403C>A protEffect p.Pro58Thr TP53_g.11555_11556ins1 commonName ins1 TP53_g.12670_12671delinsCC commonName TT>CC TP53_g.12670_12671delinsCC protEffect p.Leu201Pro TP53_g.12376_12412del commonName del37 TP53_g.12505_12520del commonName del16 TP53_g.12396_12397ins1 commonName ins1 TP53_g.13437A>T commonName A>T TP53_g.14050_14051ins1 commonName ins1 TP53_g.16914del commonName del1 TP53_g.11561_11562ins1 commonName ins1 TP53_g.12517C>G commonName C>G TP53_g.12517C>G protEffect p.Pro177Ala TP53_g.13833_13834ins1 commonName ins1 TP53_g.12653_12654ins1 commonName ins1 TP53_g.13351_13352ins8 commonName ins8 TP53_g.12681_12682ins1 commonName ins1 TP53_g.11206_11207ins1 commonName ins1 TP53_g.12655_12676del commonName del22 TP53_g.12658_12663del commonName del6 TP53_g.13402_13403ins12 commonName ins12 TP53_g.13763_13786del commonName del24 TP53_g.14066G>C commonName G>C TP53_g.11495_11496ins11 commonName ins11 TP53_g.12406_12415del commonName del10 TP53_g.11298C>A commonName C>A TP53_g.11509del commonName del1 TP53_g.13797_13798delinsTA commonName CG>TA TP53_g.13797_13798delinsTA protEffect p.Arg273Tyr TP53_g.11407G>A commonName G>A TP53_g.11407G>A protEffect p.Gly59Asp TP53_g.11568T>C commonName T>C TP53_g.11568T>C protEffect p.Phe113Leu TP53_g.11436G>A commonName G>A TP53_g.11436G>A protEffect p.Ala69Thr TP53_g.14051T>C commonName T>C TP53_g.14051T>C protEffect p.Tyr327His TP53_g.13788_13823del commonName del36 TP53_g.30014_30015ins1 commonName ins1 TP53_g.12635C>A commonName C>A TP53_g.12635C>A protEffect p.Ala189Asp TP53_g.12688G>A commonName G>A TP53_g.12688G>A protEffect p.Asp207Asn TP53_g.14056_14057ins14 commonName ins14 TP53_g.12721_12732del commonName del12 TP53_g.13761A>G commonName A>G TP53_g.12639_12640ins1 commonName ins1 TP53_g.13899_13992del commonName del94 TP53_g.12382_12383delinsTT commonName AA>TT TP53_g.12382_12383delinsTT protEffect p.Lys132Leu TP53_g.12385A>T commonName A>T TP53_g.12385A>T protEffect p.Met133Leu TP53_g.12368C>G commonName C>G TP53_g.12368C>G protEffect p.Ser127Cys TP53_g.13797_13798ins1 commonName ins1 TP53_g.13410A>C commonName A>C TP53_g.13410A>C protEffect p.Glu258Ala TP53_g.12457_12458ins6 commonName ins6 TP53_g.12544G>C commonName G>C TP53_g.12544G>C protEffect p.Asp186His TP53_g.12494_12495ins1 commonName ins1 TP53_g.13876T>G commonName T>G TP53_g.13876T>G protEffect p.Leu299Arg TP53_g.13863_13864ins2 commonName ins2 TP53_g.13334_13335ins1 commonName ins1 TP53_g.11209_11210delinsGG commonName CA>GG TP53_g.11209_11210delinsGG protEffect N29K;N30D] TP53_g.12663_12664ins63 commonName ins63 TP53_g.13845_13854del commonName del10 TP53_g.14021_14039del commonName del19 TP53_g.12649_12650del commonName del2 TP53_g.13394_13413del commonName del20 TP53_g.11391del commonName del1 TP53_g.11361del commonName del1 TP53_g.11558_11559ins6 commonName ins6 TP53_g.12408_12409ins2 commonName ins2 TP53_g.30006_30053del commonName del48 TP53_g.13766T>C commonName T>C TP53_g.13766T>C protEffect p.Gly262Gly TP53_g.12462_12463ins6 commonName ins6 TP53_g.30016_30042del commonName del27 TP53_g.13367_13369del commonName del3 TP53_g.17913del commonName del1 TP53_g.12516C>T commonName C>T TP53_g.12516C>T protEffect p.Cys176Cys TP53_g.13417del commonName del1 TP53_g.12723_12724ins3 commonName ins3 TP53_g.12702_12703ins36 commonName ins36 TP53_g.13771T>G commonName T>G TP53_g.13771T>G protEffect p.Leu264Arg TP53_g.12394_12395ins2 commonName ins2 TP53_g.13408_13456del commonName del49 TP53_g.13847_13848ins5 commonName ins5 TP53_g.13786_13787ins1 commonName ins1 TP53_g.12765T>A commonName T>A TP53_g.12438del commonName del1 TP53_g.12670T>C commonName T>C TP53_g.12670T>C protEffect p.Leu201Leu TP53_g.30014_30015del commonName del2 TP53_g.11197_11218del commonName del22 TP53_g.30018_30019ins74 commonName ins74 TP53_g.11367_11384del commonName del18 TP53_g.11550T>G commonName T>G TP53_g.11550T>G protEffect p.Tyr107Asp TP53_g.13319_13322del commonName del4 TP53_g.13355_13356ins1 commonName ins1 TP53_g.12652_12670del commonName del19 TP53_g.13870A>G commonName A>G TP53_g.13870A>G protEffect p.His297Arg TP53_g.11507_11508ins1 commonName ins1 TP53_g.13798del commonName del1 TP53_g.12379del commonName del1 TP53_g.13327C>T commonName C>T TP53_g.13327C>T protEffect p.Thr230Thr TP53_g.12615del commonName del1 TP53_g.11406G>T commonName G>T TP53_g.11406G>T protEffect p.Gly59Cys TP53_g.16902_16903ins1 commonName ins1 TP53_g.13331_13338del commonName del8 TP53_g.11906_11927del commonName del exon3 TP53_g.11467_11691del commonName del225 TP53_g.12509_12526del commonName del18 TP53_g.11428T>G commonName T>G TP53_g.11428T>G protEffect p.Met66Arg TP53_g.17935T>G commonName T>G TP53_g.17935T>G protEffect p.Ser376Ala TP53_g.11327_11345del commonName del19 TP53_g.14054_14055ins1 commonName ins1 TP53_g.12671T>C commonName T>C TP53_g.12671T>C protEffect p.Leu201Ser TP53_g.12543C>A commonName C>A TP53_g.12543C>A protEffect p.Ser185Arg TP53_g.16928A>C commonName A>C TP53_g.16928A>C protEffect p.Glu346Ala TP53_g.11041_11392del commonName del352 TP53_g.13991_14009del commonName del19 TP53_g.12644_12645ins24 commonName ins24 TP53_g.12729del commonName del1 TP53_g.12398_12399ins3 commonName ins3 TP53_g.11467C>T commonName C>T TP53_g.11467C>T protEffect p.Ala79Val TP53_g.11548_11605del commonName del58 TP53_g.17935T>A commonName T>A TP53_g.17935T>A protEffect p.Ser376Thr TP53_g.13407_13418del commonName del12 TP53_g.11020G>T commonName G>T TP53_g.11020G>T protEffect p.Gln5His TP53_g.11582_11592del commonName del11 TP53_g.12634_12660del commonName del27 TP53_g.14044T>A commonName T>A TP53_g.14044T>A protEffect p.Asp324Glu TP53_g.12421_12427del commonName del7 TP53_g.12634G>T commonName G>T TP53_g.12634G>T protEffect p.Ala189Ser TP53_g.12425_12426delinsA commonName GG>A TP53_g.11560G>A commonName G>A TP53_g.11560G>A protEffect p.Arg110His TP53_g.11495C>T commonName C>T TP53_g.11495C>T protEffect p.Ala88Ala TP53_g.12717G>T commonName G>T TP53_g.12717G>T protEffect p.Val216Val TP53_g.12502_12518del commonName del17 TP53_g.13838A>T commonName A>T TP53_g.13838A>T protEffect p.Glu286Asp TP53_g.13778_13779ins1 commonName ins1 TP53_g.13847del commonName del1 TP53_g.14023del commonName del1 TP53_g.11492_11517del commonName del26 TP53_g.12681_12682ins7 commonName ins7 TP53_g.13375del commonName del1 TP53_g.12462C>G commonName C>G TP53_g.12462C>G protEffect p.Arg158Arg TP53_g.12507G>C commonName G>C TP53_g.12507G>C protEffect p.Val173Val TP53_g.12738T>A commonName T>A TP53_g.12738T>A protEffect p.Pro223Pro TP53_g.12738_12739ins1 commonName ins1 TP53_g.12418_12420delinsAAA commonName CAG>AAA TP53_g.12418_12420delinsAAA protEffect p.Gln144Lys TP53_g.13840A>C commonName A>C TP53_g.13840A>C protEffect p.Glu287Ala TP53_g.12463_12464delinsAG commonName GC>AG TP53_g.12463_12464delinsAG protEffect p.Ala159Ser TP53_g.12539A>T commonName A>T TP53_g.12539A>T protEffect p.Asp184Val TP53_g.12400_12416del commonName del17 TP53_g.12368_12375del commonName del8 TP53_g.11334del commonName del1 TP53_g.17021A>T commonName A>T TP53_g.12696A>T commonName A>T TP53_g.12696A>T protEffect p.Arg209Ser TP53_g.12688G>T commonName G>T TP53_g.12688G>T protEffect p.Asp207Tyr TP53_g.11505del commonName del1 TP53_g.13775G>C commonName G>C TP53_g.13775G>C protEffect p.Leu265Leu TP53_g.12409_12411delinsGCG commonName TGC>GCG TP53_g.12409_12411delinsGCG protEffect C141A TP53_g.11448G>C commonName G>C TP53_g.11448G>C protEffect p.Val73Leu TP53_g.12468_12469ins1 commonName ins1 TP53_g.16948G>A commonName G>A TP53_g.16948G>A protEffect p.Ala353Thr TP53_g.13782_13783delinsTT commonName AA>TT TP53_g.13782_13783delinsTT protEffect p.Asn268Phe TP53_g.16957del commonName del1 TP53_g.12542_12543delinsCG commonName GC>CG TP53_g.12542_12543delinsCG protEffect p.Ser185Thr TP53_g.13854A>G commonName A>G TP53_g.13854A>G protEffect p.Lys292Glu TP53_g.11441T>G commonName T>G TP53_g.11441T>G protEffect p.Ala70Ala TP53_g.12444del commonName del1 TP53_g.13348_13349ins1 commonName ins1 TP53_g.12423_12426del commonName del4 TP53_g.13305C>G commonName C>G TP53_g.12530del commonName del1 TP53_g.12463_12489del commonName del27 TP53_g.12468_12469ins2 commonName ins2 TP53_g.12547_12551del commonName del5 TP53_g.13862G>T commonName G>T TP53_g.13862G>T protEffect p.Glu294Asp TP53_g.16987T>G commonName T>G TP53_g.16987T>G protEffect p.Ser366Ala TP53_g.16930G>A commonName G>A TP53_g.16930G>A protEffect p.Ala347Thr TP53_g.11203_11209delinsAG commonName TGAAAAC>AG TP53_g.14005_14006ins1 commonName ins1 TP53_g.13779C>A commonName C>A TP53_g.13779C>A protEffect p.Arg267Arg TP53_g.14039C>A commonName C>A TP53_g.14039C>A protEffect p.Leu323Met TP53_g.12716_12725del commonName del10 TP53_g.13359_13360del commonName del2 TP53_g.13788_13797del commonName del10 TP53_g.11410C>A commonName C>A TP53_g.11410C>A protEffect p.Pro60Gln TP53_g.12650_12678del commonName del29 TP53_g.12486A>G commonName A>G TP53_g.12486A>G protEffect p.Ser166Ser TP53_g.13797_13799delinsTCG commonName CGT>TCG TP53_g.13797_13799delinsTCG protEffect R273S TP53_g.12700A>C commonName A>C TP53_g.12700A>C protEffect p.Thr211Pro TP53_g.13341_13342delinsTG commonName AC>TG TP53_g.13341_13342delinsTG protEffect p.Asn235Met TP53_g.13402C>A commonName C>A TP53_g.13402C>A protEffect p.Ile255Ile TP53_g.12531_12532ins1 commonName ins1 TP53_g.11442_11447del commonName del6 TP53_g.14064A>G commonName A>G TP53_g.14064A>G protEffect p.Gln331Arg TP53_g.13824_13826del commonName del3 TP53_g.12452_12453ins1 commonName ins1 TP53_g.13345_13346ins1 commonName ins1 TP53_g.13327_13328ins1 commonName ins1 TP53_g.12632T>C commonName T>C TP53_g.12632T>C protEffect p.Leu188Pro TP53_g.13373_13396del commonName del24 TP53_g.12486_12487ins3 commonName ins3 TP53_g.13342del commonName del1 TP53_g.13993A>T commonName A>T TP53_g.13993A>T protEffect p.Ala307Ala TP53_g.12370_12372del commonName del3 TP53_g.12391_12396del commonName del6 TP53_g.12429T>A commonName T>A TP53_g.12429T>A protEffect p.Val147Val TP53_g.12512_12523del commonName del12 TP53_g.12669T>C commonName T>C TP53_g.12669T>C protEffect p.Asn200Asn TP53_g.12413C>G commonName C>G TP53_g.12413C>G protEffect p.Pro142Arg TP53_g.12480del commonName del1 TP53_g.12683_12687del commonName del5 TP53_g.12380_12384del commonName del5 TP53_g.13329del commonName del1 TP53_g.13895G>A commonName G>A TP53_g.13895G>A protEffect p.Lys305Lys TP53_g.13784C>A commonName C>A TP53_g.13784C>A protEffect p.Asn268Lys TP53_g.13291G>A commonName G>A TP53_g.13892T>C commonName T>C TP53_g.13892T>C protEffect p.Thr304Thr TP53_g.12714_12738del commonName del25 TP53_g.11477_11478ins76 commonName ins76 TP53_g.12517_12520del commonName del4 TP53_g.13430A>T commonName A>T TP53_g.11454del commonName del1 TP53_g.12356_12357ins1 commonName ins1 TP53_g.13815_13824del commonName del10 TP53_g.13998C>G commonName C>G TP53_g.13998C>G protEffect p.Pro309Arg TP53_g.13318T>C commonName T>C TP53_g.13318T>C protEffect p.Ser227Ser TP53_g.14028A>G commonName A>G TP53_g.14028A>G protEffect p.Lys319Arg TP53_g.13833_13855del commonName del23 TP53_g.12380A>C commonName A>C TP53_g.12380A>C protEffect p.Asn131Thr TP53_g.14008C>T commonName C>T TP53_g.14008C>T protEffect p.Thr312Thr TP53_g.13835G>T commonName G>T TP53_g.13835G>T protEffect p.Glu285Asp TP53_g.11376G>A commonName G>A TP53_g.11376G>A protEffect p.Asp49Asn TP53_g.12423_12449del commonName del27 TP53_g.12474_12481del commonName del8 TP53_g.12442_12447del commonName del6 TP53_g.11475C>T commonName C>T TP53_g.11475C>T protEffect p.Pro82Ser TP53_g.13803_13820del commonName del18 TP53_g.12471del commonName del1 TP53_g.12382_12383del commonName del2 TP53_g.12438_12452del commonName del15 TP53_g.12668del commonName del1 TP53_g.12746G>A commonName G>A TP53_g.11545G>A commonName G>A TP53_g.11545G>A protEffect p.Gly105Asp TP53_g.11432_11444del commonName del13 TP53_g.12441_12447del commonName del7 TP53_g.12718_12728del commonName del11 TP53_g.12736_12737del commonName del2 TP53_g.12538_12541del commonName del4 TP53_g.12450_12455del commonName del6 TP53_g.12450_12455del protEffect T155_R156del TP53_g.13806_13820del commonName del15 TP53_g.11364_11365del commonName del2 TP53_g.12373_12381del commonName del9 TP53_g.12407_12408delinsTT commonName CC>TT TP53_g.12407_12408delinsTT protEffect p.Thr140Ile TP53_g.12445_12446delinsTT commonName CC>TT TP53_g.12445_12446delinsTT protEffect p.Pro153Phe TP53_g.13764_13790del commonName del27 TP53_g.12628_12629delinsAA commonName GG>AA TP53_g.12542del commonName del1 TP53_g.12713del commonName del1 TP53_g.13770C>G commonName C>G TP53_g.13770C>G protEffect p.Leu264Val TP53_g.12703T>A commonName T>A TP53_g.12703T>A protEffect p.Phe212Ile TP53_g.12649_12650ins1 commonName ins1 TP53_g.13781G>T commonName G>T TP53_g.13781G>T protEffect p.Arg267Arg TP53_g.12698A>C commonName A>C TP53_g.12698A>C protEffect p.Asn210Thr TP53_g.13862_13863ins1 commonName ins1 TP53_g.12605T>G commonName T>G TP53_g.13999C>A commonName C>A TP53_g.13999C>A protEffect p.Pro309Pro TP53_g.12369C>G commonName C>G TP53_g.12369C>G protEffect p.Ser127Ser TP53_g.12456C>T commonName C>T TP53_g.12456C>T protEffect p.Arg156Arg TP53_g.12701C>G commonName C>G TP53_g.12701C>G protEffect p.Thr211Ser TP53_g.12736C>A commonName C>A TP53_g.12736C>A protEffect p.Pro223Thr TP53_g.12411_12413del commonName del3 TP53_g.11589A>G commonName A>G TP53_g.11589A>G protEffect p.Lys120Glu TP53_g.13334_13358del commonName del25 TP53_g.11478_11493del commonName del16 TP53_g.11437C>T commonName C>T TP53_g.11437C>T protEffect p.Ala69Val TP53_g.11515C>T commonName C>T TP53_g.11515C>T protEffect p.Ser95Phe TP53_g.14040T>C commonName T>C TP53_g.14040T>C protEffect p.Leu323Pro TP53_g.13310del commonName del1 TP53_g.16990del commonName del1 TP53_g.14013C>T commonName C>T TP53_g.14013C>T protEffect p.Ser314Phe TP53_g.12478_12479ins1 commonName ins1 TP53_g.12453C>A commonName C>A TP53_g.12453C>A protEffect p.Thr155Thr TP53_g.12474_12475ins1 commonName ins1 TP53_g.13793G>T commonName G>T TP53_g.13793G>T protEffect p.Glu271Asp TP53_g.13763_13764ins3 commonName ins3 TP53_g.12393_12394ins18 commonName ins18 TP53_g.12502_12510del commonName del9 TP53_g.12412_12420del commonName del9 TP53_g.13414_13419del commonName del6 TP53_g.12691_12692delinsAT commonName GA>AT TP53_g.12691_12692delinsAT protEffect p.Asp208Ile TP53_g.14061del commonName del1 TP53_g.11601_11602ins1 commonName ins1 TP53_g.11602G>C commonName G>C TP53_g.11602G>C protEffect p.Cys124Ser TP53_g.13853del commonName del1 TP53_g.11526T>C commonName T>C TP53_g.11526T>C protEffect p.Ser99Pro TP53_g.16904del commonName del1 TP53_g.13324_13325ins3 commonName ins3 TP53_g.12351C>T commonName C>T TP53_g.11487_11499del commonName del13 TP53_g.12652A>C commonName A>C TP53_g.12652A>C protEffect p.Ile195Leu TP53_g.12444G>T commonName G>T TP53_g.12444G>T protEffect p.Pro152Pro TP53_g.12543C>T commonName C>T TP53_g.12543C>T protEffect p.Ser185Ser TP53_g.12453del commonName del1 TP53_g.12476A>T commonName A>T TP53_g.12476A>T protEffect p.Tyr163Phe TP53_g.12519C>A commonName C>A TP53_g.12519C>A protEffect p.Pro177Pro TP53_g.12658_12659ins1 commonName ins1 TP53_g.13362_13373del commonName del12 TP53_g.13995_14035del commonName del41 TP53_g.12702T>A commonName T>A TP53_g.12702T>A protEffect p.Thr211Thr TP53_g.11544G>A commonName G>A TP53_g.11544G>A protEffect p.Gly105Ser TP53_g.12461_12462ins3 commonName ins3 TP53_g.12539_12542del commonName del4 TP53_g.12629_12630ins1 commonName ins1 TP53_g.12704_12705del commonName del2 TP53_g.12738T>G commonName T>G TP53_g.12738T>G protEffect p.Pro223Pro TP53_g.13360C>G commonName C>G TP53_g.13360C>G protEffect p.Ser241Ser TP53_g.13341_13342ins3 commonName ins3 TP53_g.13804del commonName del1 TP53_g.13806_13829del commonName del24 TP53_g.13881_13882ins1 commonName ins1 TP53_g.12668A>C commonName A>C TP53_g.12668A>C protEffect p.Asn200Thr TP53_g.13461C>T commonName C>T TP53_g.12490_12491ins1 commonName ins1 TP53_g.12572G>A commonName G>A TP53_g.13321del commonName del1 TP53_g.13787C>A commonName C>A TP53_g.13787C>A protEffect p.Ser269Arg TP53_g.13443C>G commonName C>G TP53_g.13757G>A commonName G>A TP53_g.12637_12661del commonName del25 TP53_g.12696_12697ins4 commonName ins4 TP53_g.14055T>C commonName T>C TP53_g.14055T>C protEffect p.Phe328Ser TP53_g.13309_13310ins5 commonName ins5 TP53_g.13310_13311ins69 commonName ins69 TP53_g.16884_16885ins133 commonName ins133 TP53_g.11484_11485del commonName del2 TP53_g.12389_12406del commonName del18 TP53_g.13310_13356del commonName del47 TP53_g.13881_13889del commonName del9 TP53_g.13871_13872ins17 commonName ins17 TP53_g.12528G>T commonName G>T TP53_g.12528G>T protEffect p.Glu180Asp TP53_g.11570_11572del commonName del3 TP53_g.11439G>A commonName G>A TP53_g.11439G>A protEffect p.Ala70Thr TP53_g.12515_12516delinsTT commonName GC>TT TP53_g.12515_12516delinsTT protEffect p.Cys176Phe TP53_g.12377_12413del commonName del37 TP53_g.11033G>A commonName G>A TP53_g.11033G>A protEffect p.Val10Ile TP53_g.11550_11552delinsCAA commonName TAC>CAA TP53_g.11550_11552delinsCAA protEffect Y107H TP53_g.11604A>C commonName A>C TP53_g.11604A>C protEffect p.Thr125Pro TP53_g.11593del commonName del1 TP53_g.12628del commonName del1 TP53_g.12668_12669ins1 commonName ins1 TP53_g.16921_16933del commonName del13 TP53_g.12390T>C commonName T>C TP53_g.12390T>C protEffect p.Phe134Phe TP53_g.12733C>G commonName C>G TP53_g.12733C>G protEffect p.Pro222Ala TP53_g.14056C>T commonName C>T TP53_g.14056C>T protEffect p.Phe328Phe TP53_g.13864C>A commonName C>A TP53_g.13864C>A protEffect p.Pro295His TP53_g.12737C>G commonName C>G TP53_g.12737C>G protEffect p.Pro223Arg TP53_g.13342C>T commonName C>T TP53_g.13342C>T protEffect p.Asn235Asn TP53_g.12715_12719del commonName del5 TP53_g.11505C>G commonName C>G TP53_g.11505C>G protEffect p.Pro92Ala TP53_g.14061T>C commonName T>C TP53_g.14061T>C protEffect p.Leu330Pro TP53_g.12424T>A commonName T>A TP53_g.12424T>A protEffect p.Trp146Arg TP53_g.11587C>A commonName C>A TP53_g.11587C>A protEffect p.Ala119Asp TP53_g.12468_12469delinsAA commonName GG>AA TP53_g.12468_12469delinsAA protEffect M160I;A161T] TP53_g.13342_13343delinsTG commonName CT>TG TP53_g.13342_13343delinsTG protEffect Y236D TP53_g.13401_13402delinsAT commonName TC>AT TP53_g.13401_13402delinsAT protEffect p.Ile255Asn TP53_g.11448G>A commonName G>A TP53_g.11448G>A protEffect p.Val73Met TP53_g.12453_12472del commonName del20 TP53_g.11562C>A commonName C>A TP53_g.11562C>A protEffect p.Leu111Met TP53_g.12551A>C commonName A>C TP53_g.12359_12360del commonName del2 TP53_g.12399_12413del commonName del15 TP53_g.12625T>A commonName T>A TP53_g.17908A>C commonName A>C TP53_g.12678_12679delinsTT commonName GG>TT TP53_g.12678_12679delinsTT protEffect E204X TP53_g.11498del commonName del1 TP53_g.12527del commonName del1 TP53_g.17974G>T commonName G>T TP53_g.17974G>T protEffect p.Gly389Trp TP53_g.13763_14162del commonName del400 TP53_g.14035_14036ins2 commonName ins2 TP53_g.12360_12372del commonName del13 TP53_g.12402del commonName del1 TP53_g.12390_12391del commonName del2 TP53_g.13814_13815delinsA commonName TG>A TP53_g.12632_12643del commonName del12 TP53_g.13992_13998del commonName del7 TP53_g.11553_11555del commonName del3 TP53_g.11451_11457del commonName del7 TP53_g.13333_13343del commonName del11 TP53_g.11006_12187del commonName del1182 TP53_g.11456_11457ins1 commonName ins1 TP53_g.11335_11336ins1 commonName ins1 TP53_g.12641del commonName del1 TP53_g.16974del commonName del1 TP53_g.13420_13556del commonName del137 TP53_g.12394_12395ins1 commonName ins1 TP53_g.11385_11386ins3 commonName ins3 TP53_g.11591G>T commonName G>T TP53_g.11591G>T protEffect p.Lys120Asn TP53_g.13388_13389ins1 commonName ins1 TP53_g.11565_11597del commonName del33 TP53_g.11565_11597del protEffect G112_V122del TP53_g.13334_13336del commonName del3 TP53_g.12712_12714del commonName del3 TP53_g.12517C>A commonName C>A TP53_g.12517C>A protEffect p.Pro177Thr TP53_g.16884G>C commonName G>C TP53_g.14025_14043del commonName del19 TP53_g.11052A>T commonName A>T TP53_g.11052A>T protEffect p.Gln16Leu TP53_g.13363del commonName del1 TP53_g.14001_14002ins1 commonName ins1 TP53_g.11589A>T commonName A>T TP53_g.11589A>T protEffect p.Lys120STOP TP53_g.13829_13830del commonName del2 TP53_g.17955del commonName del1 TP53_g.12513_12514ins4 commonName ins4 TP53_g.13318del commonName del1 TP53_g.12426_12434del commonName del9 TP53_g.14067T>G commonName T>G TP53_g.14014del commonName del1 TP53_g.11590del commonName del1 TP53_g.13419G>C commonName G>C TP53_g.13419G>C protEffect p.Ser261Thr TP53_g.11333del commonName del1 TP53_g.13859_13860delinsCT commonName GG>CT TP53_g.13859_13860delinsCT protEffect E294X TP53_g.11376G>T commonName G>T TP53_g.11376G>T protEffect p.Asp49Tyr TP53_g.12739_12740ins5 commonName ins5 TP53_g.13790del commonName del1 TP53_g.12682_12684del commonName del3 TP53_g.30003_30302del commonName del300 TP53_g.12463_12464delinsTT commonName GC>TT TP53_g.12463_12464delinsTT protEffect p.Ala159Phe TP53_g.11603C>A commonName C>A TP53_g.11603C>A protEffect p.Cys124STOP TP53_g.11080G>A commonName G>A TP53_g.11081T>C commonName T>C TP53_g.13795_13796del commonName del2 TP53_g.13349_13362del commonName del14 TP53_g.11326A>G commonName A>G TP53_g.11352_11356del commonName del5 TP53_g.14057_14078del commonName del22 TP53_g.16906_16910del commonName del5 TP53_g.12497del commonName del1 TP53_g.16888del commonName del1 TP53_g.12478_12492del commonName del15 TP53_g.16884G>A commonName G>A TP53_g.11477_11478ins8 commonName ins8 TP53_g.11558_11559ins4 commonName ins4 TP53_g.11465_11466delinsGA commonName AG>GA TP53_g.11465_11466delinsGA protEffect A79T TP53_g.13784del commonName del1 TP53_g.12649_12651del commonName del3 TP53_g.13848_13849ins1 commonName ins1 TP53_g.12485_12486ins10 commonName ins10 TP53_g.13422C>T commonName C>T TP53_g.13341_13346del commonName del6 TP53_g.13382_13384del commonName del3 TP53_g.13405del commonName del1 TP53_g.14015T>C commonName T>C TP53_g.14015T>C protEffect p.Ser315Pro TP53_g.13335_13336del commonName del2 TP53_g.14059C>T commonName C>T TP53_g.14059C>T protEffect p.Thr329Thr TP53_g.12354C>T commonName C>T TP53_g.11445C>T commonName C>T TP53_g.11445C>T protEffect p.Pro/Arg72Cys TP53_g.13414del commonName del1 TP53_g.11460del commonName del1 TP53_g.14065G>A commonName G>A TP53_g.14065G>A protEffect p.Gln331Gln TP53_g.12454_12455ins1 commonName ins1 TP53_g.12367_12396del commonName del30 TP53_g.13412_13413delinsAG commonName GA>AG TP53_g.13412_13413delinsAG protEffect p.Asp259Ser TP53_g.12641_12642ins2 commonName ins2 TP53_g.12681G>C commonName G>C TP53_g.12681G>C protEffect p.Glu204Asp TP53_g.13994C>G commonName C>G TP53_g.13994C>G protEffect p.Leu308Val TP53_g.14039C>G commonName C>G TP53_g.14039C>G protEffect p.Leu323Val TP53_g.12417_12418del commonName del2 TP53_g.14005C>G commonName C>G TP53_g.14005C>G protEffect p.Asn311Lys TP53_g.14017T>G commonName T>G TP53_g.14017T>G protEffect p.Ser315Ser TP53_g.12639_12641del commonName del3 TP53_g.13820_13825del commonName del6 TP53_g.12672_12673ins4 commonName ins4 TP53_g.17985_17988del commonName del4 TP53_g.12614A>T commonName A>T TP53_g.14042G>T commonName G>T TP53_g.14042G>T protEffect p.Asp324Tyr TP53_g.12480_12481delinsTT commonName GC>TT TP53_g.12480_12481delinsTT protEffect K164N;Q165X] TP53_g.12464_12466del commonName del3 TP53_g.14031_14038del commonName del8 TP53_g.14026_14029del commonName del4 TP53_g.12655C>G commonName C>G TP53_g.12655C>G protEffect p.Arg196Gly TP53_g.13994C>T commonName C>T TP53_g.13994C>T protEffect p.Leu308Leu TP53_g.13830del commonName del1 TP53_g.13875C>T commonName C>T TP53_g.13875C>T protEffect p.Leu299Leu TP53_g.13920G>A commonName G>A TP53_g.12578G>A commonName G>A TP53_g.13316T>C commonName T>C TP53_g.13316T>C protEffect p.Ser227Pro TP53_g.13407del commonName del1 TP53_g.13820_13821ins4 commonName ins4 TP53_g.12740_12741ins1 commonName ins1 TP53_g.13418_13423del commonName del6 TP53_g.12679G>C commonName G>C TP53_g.12679G>C protEffect p.Glu204Gln TP53_g.11535_11537del commonName del3 TP53_g.11559_11561del commonName del3 TP53_g.13299T>C commonName T>C TP53_g.13763T>A commonName T>A TP53_g.13763T>A protEffect p.Ser261Arg TP53_g.11375C>T commonName C>T TP53_g.11375C>T protEffect p.Asp48Asp TP53_g.13409_13411del commonName del3 TP53_g.16941del commonName del1 TP53_g.13859_13860del commonName del2 TP53_g.13335del commonName del1 TP53_g.11384A>G commonName A>G TP53_g.11384A>G protEffect p.Glu51Glu TP53_g.11387A>T commonName A>T TP53_g.11387A>T protEffect p.Gln52His TP53_g.11393C>A commonName C>A TP53_g.11393C>A protEffect p.Phe54Leu TP53_g.11432A>G commonName A>G TP53_g.11432A>G protEffect p.Pro67Pro TP53_g.11520G>A commonName G>A TP53_g.11520G>A protEffect p.Val97Ile TP53_g.11531_11532ins1 commonName ins1 TP53_g.13767_13769delinsTAG commonName AAT>TAG TP53_g.13767_13769delinsTAG protEffect N263X TP53_g.13456T>A commonName T>A TP53_g.12714_12715ins3 commonName ins3 TP53_g.12499_12525del commonName del27 TP53_g.12657A>C commonName A>C TP53_g.12657A>C protEffect p.Arg196Arg TP53_g.12501_12527del commonName del27 TP53_g.12454_12474del commonName del21 TP53_g.30019del commonName del1 TP53_g.11219G>A commonName G>A TP53_g.13823_13824delinsAT commonName CC>AT TP53_g.13823_13824delinsAT protEffect D281E;R282W] TP53_g.14001A>T commonName A>T TP53_g.14001A>T protEffect p.Asn310Ile TP53_g.14004A>G commonName A>G TP53_g.14004A>G protEffect p.Asn311Ser TP53_g.14004A>C commonName A>C TP53_g.14004A>C protEffect p.Asn311Thr TP53_g.14023G>T commonName G>T TP53_g.14023G>T protEffect p.Gln317His TP53_g.30015_30030del commonName del16 TP53_g.30014_30019del commonName del6 TP53_g.14064_14065ins1 commonName ins1 TP53_g.11367T>C commonName T>C TP53_g.11367T>C protEffect p.Ser46Pro TP53_g.12446C>G commonName C>G TP53_g.12446C>G protEffect p.Pro153Arg TP53_g.11609C>T commonName C>T TP53_g.11625C>T commonName C>T TP53_g.12468_12469delinsCC commonName GG>CC TP53_g.12468_12469delinsCC protEffect M160I;A161P] TP53_g.11527C>T commonName C>T TP53_g.11527C>T protEffect p.Ser99Phe TP53_g.11534A>G commonName A>G TP53_g.11534A>G protEffect p.Lys101Lys TP53_g.11568T>A commonName T>A TP53_g.11568T>A protEffect p.Phe113Ile TP53_g.12726_12737del commonName del12 TP53_g.12758G>A commonName G>A TP53_g.12477del commonName del1 TP53_g.12375_12386del commonName del12 TP53_g.12681G>T commonName G>T TP53_g.12681G>T protEffect p.Glu204Asp TP53_g.12700A>T commonName A>T TP53_g.12700A>T protEffect p.Thr211Ser TP53_g.13368_13369ins1 commonName ins1 TP53_g.13370_13371ins1 commonName ins1 TP53_g.13377_13378ins1 commonName ins1 TP53_g.13391C>A commonName C>A TP53_g.13391C>A protEffect p.Leu252Ile TP53_g.13814T>A commonName T>A TP53_g.13814T>A protEffect p.Pro278Pro TP53_g.12502_12503ins7 commonName ins7 TP53_g.13769_13781del commonName del13 TP53_g.12422_12423ins2 commonName ins2 TP53_g.13267_13277delinscccagagccca commonName ccaaggcgcac>cccagagccca TP53_g.12431A>G commonName A>G TP53_g.12431A>G protEffect p.Asp148Gly TP53_g.12662A>T commonName A>T TP53_g.12662A>T protEffect p.Glu198Val TP53_g.13413A>C commonName A>C TP53_g.13413A>C protEffect p.Asp259Ala TP53_g.12427G>T commonName G>T TP53_g.12427G>T protEffect p.Val147Phe TP53_g.12655_12656ins1 commonName ins1 TP53_g.13402_13404del commonName del3 TP53_g.13396del commonName del1 TP53_g.13401del commonName del1 TP53_g.12674_12675ins1 commonName ins1 TP53_g.12709_12710ins1 commonName ins1 TP53_g.12648T>G commonName T>G TP53_g.12648T>G protEffect p.His193Gln TP53_g.12687_12688del commonName del2 TP53_g.14009A>C commonName A>C TP53_g.14009A>C protEffect p.Ser313Arg TP53_g.11505C>T commonName C>T TP53_g.11505C>T protEffect p.Pro92Ser TP53_g.17984_17985ins1 commonName ins1 TP53_g.11022C>T commonName C>T TP53_g.11022C>T protEffect p.Ser6Leu TP53_g.11392T>A commonName T>A TP53_g.11392T>A protEffect p.Phe54Tyr TP53_g.14058C>G commonName C>G TP53_g.14058C>G protEffect p.Thr329Ser TP53_g.11500C>A commonName C>A TP53_g.11500C>A protEffect p.Ser90Tyr TP53_g.13824_13825ins1 commonName ins1 TP53_g.13796G>T commonName G>T TP53_g.13796G>T protEffect p.Val272Val TP53_g.12375_12376ins1 commonName ins1 TP53_g.12640_12645del commonName del6 TP53_g.13324_13325del commonName del2 TP53_g.13325_13339del commonName del15 TP53_g.13773_13895del commonName del123 TP53_g.14024_14038del commonName del15 TP53_g.11054_11056del commonName del3 TP53_g.11059_11065del commonName del7 TP53_g.11498_11499ins1 commonName ins1 TP53_g.12644A>C commonName A>C TP53_g.12644A>C protEffect p.Gln192Pro TP53_g.13796_13797ins7 commonName ins7 TP53_g.11538_11564del commonName del27 TP53_g.11538_11564del protEffect Y103_L111del TP53_g.12377_12378delinsCT commonName TC>CT TP53_g.12377_12378delinsCT protEffect p.Leu130Pro TP53_g.12393del commonName del1 TP53_g.12380_12381delinsGT commonName AC>GT TP53_g.12380_12381delinsGT protEffect p.Asn131Ser TP53_g.12437_12438delinsAC commonName CA>AC TP53_g.12437_12438delinsAC protEffect p.Thr150Asn TP53_g.12438A>T commonName A>T TP53_g.12438A>T protEffect p.Thr150Thr TP53_g.13861A>C commonName A>C TP53_g.13861A>C protEffect p.Glu294Ala TP53_g.13899_13900delinsTT commonName GG>TT TP53_g.13786_13787ins12 commonName ins12 TP53_g.13431C>T commonName C>T TP53_g.12799C>T commonName C>T TP53_g.12555G>A commonName G>A TP53_g.11623G>A commonName G>A TP53_g.13450G>A commonName G>A TP53_g.13465G>A commonName G>A TP53_g.11584C>T commonName C>T TP53_g.11584C>T protEffect p.Thr118Ile TP53_g.11362T>C commonName T>C TP53_g.11362T>C protEffect p.Met44Thr TP53_g.11602G>A commonName G>A TP53_g.11602G>A protEffect p.Cys124Tyr TP53_g.12526_12527del commonName del2 TP53_g.11460_11489del commonName del30 TP53_g.11551A>G commonName A>G TP53_g.11551A>G protEffect p.Tyr107Cys TP53_g.11604A>G commonName A>G TP53_g.11604A>G protEffect p.Thr125Ala TP53_g.11521T>C commonName T>C TP53_g.11521T>C protEffect p.Val97Ala TP53_g.11361A>G commonName A>G TP53_g.11361A>G protEffect p.Met44Val TP53_g.11584C>G commonName C>G TP53_g.11584C>G protEffect p.Thr118Arg TP53_g.11651G>A commonName G>A TP53_g.11624G>A commonName G>A TP53_g.12407C>A commonName C>A TP53_g.12407C>A protEffect p.Thr140Asn TP53_g.12488_12489ins1 commonName ins1 TP53_g.12500_12501delinsTC commonName AG>TC TP53_g.12500_12501delinsTC protEffect p.Glu171Val TP53_g.12487_12492delinsTACCTC commonName CAGCAC>TACCTC TP53_g.12487_12492delinsTACCTC protEffect Q167Y;H168L] TP53_g.12646_12647ins1 commonName ins1 TP53_g.13332_13333ins1 commonName ins1 TP53_g.12529_12534delinsTGCTGT commonName CGCTGC>TGCTGT TP53_g.12529_12534delinsTGCTGT protEffect R181C TP53_g.12491_12495delinsTCATT commonName ACATG>TCATT TP53_g.12491_12495delinsTCATT protEffect H168L/M169I] TP53_g.12699C>G commonName C>G TP53_g.12699C>G protEffect p.Asn210Lys TP53_g.12676_12681delinsCTGGTG commonName GTGGAG>CTGGTG TP53_g.12676_12681delinsCTGGTG protEffect V203L/E204V] TP53_g.12497_12498ins1 commonName ins1 TP53_g.13377del commonName del1 TP53_g.12638del commonName del1 TP53_g.13380del commonName del1 TP53_g.13389_13390ins1 commonName ins1 TP53_g.13881C>A commonName C>A TP53_g.13881C>A protEffect p.Pro301Thr TP53_g.13436C>A commonName C>A TP53_g.13438C>G commonName C>G TP53_g.11600del commonName del1 TP53_g.14058C>T commonName C>T TP53_g.14058C>T protEffect p.Thr329Ile TP53_g.13334_13363del commonName del30 TP53_g.13429C>A commonName C>A TP53_g.16998G>T commonName G>T TP53_g.12735G>A commonName G>A TP53_g.12735G>A protEffect p.Pro222Pro TP53_g.13931G>T commonName G>T TP53_g.13754C>A commonName C>A TP53_g.13827_13836del commonName del10 TP53_g.12552G>T commonName G>T TP53_g.13293C>A commonName C>A TP53_g.12715_12716ins1 commonName ins1 TP53_g.11606G>C commonName G>C TP53_g.11606G>C protEffect p.Thr125Thr TP53_g.12755C>T commonName C>T TP53_g.12454_12462del commonName del9 TP53_g.12441_12444del commonName del4 TP53_g.11483_11493del commonName del11 TP53_g.16916_16917del commonName del2 TP53_g.11494del commonName del1 TP53_g.16906G>A commonName G>A TP53_g.16906G>A protEffect p.Glu339Lys TP53_g.16916del commonName del1 TP53_g.12521_12523del commonName del3 TP53_g.16951C>A commonName C>A TP53_g.16951C>A protEffect p.Gln354Lys TP53_g.13298G>T commonName G>T TP53_g.13335A>C commonName A>C TP53_g.13335A>C protEffect p.His233Pro TP53_g.12738T>C commonName T>C TP53_g.12738T>C protEffect p.Pro223Pro TP53_g.11489_11511del commonName del23 TP53_g.12440_12442del commonName del3 TP53_g.12454_12471del commonName del18 TP53_g.13369_13373del commonName del5 TP53_g.13796_13797delinsTT commonName GC>TT TP53_g.13796_13797delinsTT protEffect V272V;R273C] TP53_g.12445_12456del commonName del12 TP53_g.13895_13896delinsTT commonName GC>TT TP53_g.13895_13896delinsTT protEffect K305N;R306X] TP53_g.12540_12541ins4 commonName ins4 TP53_g.12379_12384del commonName del6 TP53_g.12374C>G commonName C>G TP53_g.12374C>G protEffect p.Ala129Gly TP53_g.13340del commonName del1 TP53_g.12680_12681ins1 commonName ins1 TP53_g.12727_12728ins1 commonName ins1 TP53_g.12727_12728ins1 protEffect Y220X TP53_g.13376_13377delinsTT commonName AA>TT TP53_g.13376_13377delinsTT protEffect p.Asn247Phe TP53_g.13377_13381delinsTTCCC commonName ACCGG>TTCCC TP53_g.13377_13381delinsTTCCC protEffect N247I;R248] TP53_g.12677_12678ins1 commonName ins1 TP53_g.13368del commonName del1 TP53_g.13413del commonName del1 TP53_g.11381_11388del commonName del8 TP53_g.11361_11364del commonName del4 TP53_g.11538_11552del commonName del15 TP53_g.11541del commonName del1 TP53_g.11568_11570del commonName del3 TP53_g.12378_12380del commonName del3 TP53_g.12428_12457del commonName del30 TP53_g.12742del commonName del1 TP53_g.14006_14007del commonName del2 TP53_g.14048_14078del commonName del31 TP53_g.14051_14052del commonName del2 TP53_g.16919del commonName del1 TP53_g.11601T>G commonName T>G TP53_g.11601T>G protEffect p.Cys124Gly TP53_g.16906G>C commonName G>C TP53_g.16906G>C protEffect p.Glu339Gln TP53_g.17984C>T commonName C>T TP53_g.17984C>T protEffect p.Ser392Leu TP53_g.14063_14064ins2 commonName ins2 TP53_g.13353_13364del commonName del12 TP53_g.13985_13991del commonName del7 TP53_g.13787_13789del commonName del3 TP53_g.12724_12739del commonName del16 TP53_g.12394_12397del commonName del4 TP53_g.11542del commonName del1 TP53_g.11343del commonName del1 TP53_g.11510_11511ins7 commonName ins7 TP53_g.11558_11559ins11 commonName ins11 TP53_g.11589A>C commonName A>C TP53_g.11589A>C protEffect p.Lys120Gln TP53_g.13352_13373del commonName del22 TP53_g.13370_13372del commonName del3 TP53_g.13382_13390del commonName del9 TP53_g.12460_12461ins3 commonName ins3 TP53_g.11204_11206delinsCA commonName GAA>CA TP53_g.30005del commonName del1 TP53_g.12402_12403ins8 commonName ins8 TP53_g.12503del commonName del1 TP53_g.14013_14029del commonName del17 TP53_g.12465del commonName del1 TP53_g.12490_12513del commonName del24 TP53_g.13347_13348del commonName del2 TP53_g.13790_13791delinsGT commonName TG>GT TP53_g.13790_13791delinsGT protEffect F270L;E271X] TP53_g.11059A>T commonName A>T TP53_g.11059A>T protEffect p.Thr18Thr TP53_g.12665del commonName del1 TP53_g.13769T>G commonName T>G TP53_g.13769T>G protEffect p.Asn263Lys TP53_g.13996G>T commonName G>T TP53_g.13996G>T protEffect p.Leu308Leu TP53_g.12720_12761del commonName del42 TP53_g.11340_11361del commonName del22 TP53_g.12396A>T commonName A>T TP53_g.12396A>T protEffect p.Gln136His TP53_g.11404C>A commonName C>A TP53_g.11404C>A protEffect p.Pro58Gln TP53_g.11578C>T commonName C>T TP53_g.11578C>T protEffect p.Ser116Phe TP53_g.11614G>A commonName G>A TP53_g.11621G>A commonName G>A TP53_g.12467T>C commonName T>C TP53_g.12467T>C protEffect p.Met160Thr TP53_g.12725C>G commonName C>G TP53_g.12725C>G protEffect p.Pro219Arg TP53_g.11583A>G commonName A>G TP53_g.11583A>G protEffect p.Thr118Ala TP53_g.13875C>G commonName C>G TP53_g.13875C>G protEffect p.Leu299Val TP53_g.11457_11501del commonName del45 TP53_g.11429G>A commonName G>A TP53_g.11429G>A protEffect p.Met66Ile TP53_g.11558C>T commonName C>T TP53_g.11558C>T protEffect p.Phe109Phe TP53_g.13781G>C commonName G>C TP53_g.13781G>C protEffect p.Arg267Arg TP53_g.13816_13817delinsTA commonName GG>TA TP53_g.13816_13817delinsTA protEffect p.Gly279Val TP53_g.12721_12741del commonName del21 TP53_g.11570C>G commonName C>G TP53_g.11570C>G protEffect p.Phe113Leu TP53_g.13753_13783del commonName del31 TP53_g.13345del commonName del1 TP53_g.12416T>G commonName T>G TP53_g.12416T>G protEffect p.Val143Gly TP53_g.16895del commonName del1 TP53_g.14063del commonName del1 TP53_g.12470_12472del commonName del3 TP53_g.11393del commonName del1 TP53_g.13386_13394del commonName del9 TP53_g.11346G>C commonName G>C TP53_g.11346G>C protEffect p.Ala39Pro TP53_g.16934T>C commonName T>C TP53_g.16934T>C protEffect p.Leu348Ser TP53_g.12626_12638del commonName del13 TP53_g.13821_13835del commonName del15 TP53_g.12488_12489ins2 commonName ins2 TP53_g.12495_12496delinsTT commonName GA>TT TP53_g.12495_12496delinsTT protEffect M169I;T170S] TP53_g.12484_12493del commonName del10 TP53_g.11493G>A commonName G>A TP53_g.11493G>A protEffect p.Ala88Thr TP53_g.12728A>T commonName A>T TP53_g.12728A>T protEffect p.Tyr220Phe TP53_g.13317_13318del commonName del2 TP53_g.13899G>C commonName G>C TP53_g.13899G>C protEffect p.Ala307Pro TP53_g.11524_11525ins5 commonName ins5 TP53_g.12430_12470del commonName del41 TP53_g.13354del commonName del1 TP53_g.12457_12458ins4 commonName ins4 TP53_g.12398_12419del commonName del22 TP53_g.12511_12544del commonName del34 TP53_g.13811_13812ins3 commonName ins3 TP53_g.12442_12443delinsT commonName CC>T TP53_g.13375_13392del commonName del18 TP53_g.13869_13894del commonName del26 TP53_g.13354_13355del commonName del2 TP53_g.13864_13889del commonName del26 TP53_g.13797_13833del commonName del37 TP53_g.16903T>C commonName T>C TP53_g.16903T>C protEffect p.Phe338Leu TP53_g.13780G>T commonName G>T TP53_g.13780G>T protEffect p.Arg267Leu TP53_g.11211A>G commonName A>G TP53_g.11211A>G protEffect p.Asn30Ser TP53_g.17915T>C commonName T>C TP53_g.17915T>C protEffect p.Leu369Pro TP53_g.11054G>A commonName G>A TP53_g.11054G>A protEffect p.Glu17Lys TP53_g.12490_12510del commonName del21 TP53_g.13310_13330del commonName del21 TP53_g.11451_11510del commonName del60 TP53_g.12376_12390del commonName del15 TP53_g.11429_11430ins1 commonName ins1 TP53_g.13856del commonName del1 TP53_g.11567_11569del commonName del3 TP53_g.11556T>G commonName T>G TP53_g.11556T>G protEffect p.Phe109Val TP53_g.11577_11589del commonName del13 TP53_g.12385_12403del commonName del19 TP53_g.12333T>C commonName T>C TP53_g.12669T>G commonName T>G TP53_g.12669T>G protEffect p.Asn200Lys TP53_g.13998C>A commonName C>A TP53_g.13998C>A protEffect p.Pro309His TP53_g.13366G>T commonName G>T TP53_g.13366G>T protEffect p.Met243Ile TP53_g.12721del commonName del1 TP53_g.13785_13821del commonName del37 TP53_g.11538_11556del commonName del19 TP53_g.11550_11551del commonName del2 TP53_g.13369_13370ins3 commonName ins3 TP53_g.14027del commonName del1 TP53_g.16884_16885ins14 commonName ins14 TP53_g.16908_16909ins2 commonName ins2 TP53_g.12363_12364ins18 commonName ins18 TP53_g.13837_13843del commonName del7 TP53_g.17986_17989del commonName del4 TP53_g.12718G>A commonName G>A TP53_g.12718G>A protEffect p.Val217Met TP53_g.12630T>G commonName T>G TP53_g.12630T>G protEffect p.Gly187Gly TP53_g.13803_13804delinsCA commonName TG>CA TP53_g.13803_13804delinsCA protEffect p.Cys275His TP53_g.12697A>T commonName A>T TP53_g.12697A>T protEffect p.Asn210Tyr TP53_g.13990A>C commonName A>C TP53_g.13371del commonName del1 TP53_g.14052_14053ins2 commonName ins2 TP53_g.11352G>A commonName G>A TP53_g.11352G>A protEffect p.Asp41Asn TP53_g.14042G>C commonName G>C TP53_g.14042G>C protEffect p.Asp324His TP53_g.17985_17986ins1 commonName ins1 TP53_g.12433T>G commonName T>G TP53_g.12433T>G protEffect p.Ser149Ala TP53_g.13407_13409del commonName del3 TP53_g.13819_13821del commonName del3 TP53_g.12400G>T commonName G>T TP53_g.12400G>T protEffect p.Ala138Ser TP53_g.11572_11573ins4 commonName ins4 TP53_g.11480G>C commonName G>C TP53_g.11480G>C protEffect p.Ala83Ala TP53_g.11480del commonName del1 TP53_g.12671_12672ins1 commonName ins1 TP53_g.13805del commonName del1 TP53_g.11587C>G commonName C>G TP53_g.11587C>G protEffect p.Ala119Gly TP53_g.13990A>T commonName A>T TP53_g.11360del commonName del1 TP53_g.16884G>T commonName G>T TP53_g.11444_11445del commonName del2 TP53_g.12727_12728ins2 commonName ins2 TP53_g.13999del commonName del1 TP53_g.13796_13797ins2 commonName ins2 TP53_g.12666del commonName del1 TP53_g.13848C>A commonName C>A TP53_g.13848C>A protEffect p.Arg290Ser TP53_g.12381C>A commonName C>A TP53_g.12381C>A protEffect p.Asn131Lys TP53_g.12374_12380del commonName del7 TP53_g.12439_12441del commonName del3 TP53_g.16966C>T commonName C>T TP53_g.16966C>T protEffect p.Pro359Ser TP53_g.13841_13842ins1 commonName ins1 TP53_g.14024C>G commonName C>G TP53_g.14024C>G protEffect p.Pro318Ala TP53_g.14051T>G commonName T>G TP53_g.14051T>G protEffect p.Tyr327Asp TP53_g.14006A>G commonName A>G TP53_g.14006A>G protEffect p.Thr312Ala TP53_g.16905_16906ins1 commonName ins1 TP53_g.11553G>T commonName G>T TP53_g.11553G>T protEffect p.Gly108Cys TP53_g.12373_12384del commonName del12 TP53_g.11409C>A commonName C>A TP53_g.11409C>A protEffect p.Pro60Thr TP53_g.11387_11388ins7 commonName ins7 TP53_g.16964A>T commonName A>T TP53_g.16964A>T protEffect p.Glu358Val TP53_g.16927G>T commonName G>T TP53_g.16927G>T protEffect p.Glu346STOP TP53_g.13775_13776delinsAA commonName GG>AA TP53_g.13775_13776delinsAA protEffect G266R TP53_g.12662_12663delinsGG commonName AA>GG TP53_g.12662_12663delinsGG protEffect p.Glu198Gly TP53_g.12675T>A commonName T>A TP53_g.12675T>A protEffect p.Arg202Arg TP53_g.14046G>T commonName G>T TP53_g.14046G>T protEffect p.Gly325Val TP53_g.13323G>T commonName G>T TP53_g.13323G>T protEffect p.Cys229Phe TP53_g.13824_13825delinsGA commonName CG>GA TP53_g.13824_13825delinsGA protEffect p.Arg282Glu TP53_g.11365T>C commonName T>C TP53_g.11365T>C protEffect p.Leu45Pro TP53_g.11588C>A commonName C>A TP53_g.11588C>A protEffect p.Ala119Ala TP53_g.11404C>T commonName C>T TP53_g.11404C>T protEffect p.Pro58Leu TP53_g.11458C>T commonName C>T TP53_g.11458C>T protEffect p.Ala76Val TP53_g.11452C>T commonName C>T TP53_g.11452C>T protEffect p.Ala74Val TP53_g.12486_12496del commonName del11 TP53_g.13843_13863del commonName del21 TP53_g.12489_12490ins2 commonName ins2 TP53_g.11445_11446del commonName del2 TP53_g.14033A>T commonName A>T TP53_g.14033A>T protEffect p.Lys321STOP TP53_g.11338C>A commonName C>A TP53_g.11338C>A protEffect p.Pro36Gln TP53_g.13314_13337del commonName del24 TP53_g.11215_11216ins1 commonName ins1 TP53_g.13895_13896delinsTA commonName GC>TA TP53_g.13895_13896delinsTA protEffect K305N TP53_g.13889C>T commonName C>T TP53_g.13889C>T protEffect p.Ser303Ser TP53_g.12663A>G commonName A>G TP53_g.12663A>G protEffect p.Glu198Glu TP53_g.12708A>T commonName A>T TP53_g.12708A>T protEffect p.Arg213Arg TP53_g.13993_13994del commonName del2 TP53_g.12456_12457del commonName del2 TP53_g.12635_12650del commonName del16 TP53_g.13409_13419del commonName del11 TP53_g.13763_13771del commonName del9 TP53_g.14036del commonName del1 TP53_g.13316_13333del commonName del18 TP53_g.14024C>T commonName C>T TP53_g.14024C>T protEffect p.Pro318Ser TP53_g.13894A>C commonName A>C TP53_g.13894A>C protEffect p.Lys305Thr TP53_g.13361_13376del commonName del16 TP53_g.12510_12527del commonName del18 TP53_g.11028_11029ins1 commonName ins1 TP53_g.11418G>C commonName G>C TP53_g.11418G>C protEffect p.Ala63Pro TP53_g.11455C>A commonName C>A TP53_g.11455C>A protEffect p.Pro75His TP53_g.17937_17938ins1 commonName ins1 TP53_g.11461C>A commonName C>A TP53_g.11461C>A protEffect p.Pro77Gln TP53_g.12707_12708ins1 commonName ins1 TP53_g.17986G>A commonName G>A TP53_g.17986G>A protEffect p.Asp393Asn TP53_g.13890_13892del commonName del3 TP53_g.13339_13340ins4 commonName ins4 TP53_g.11324A>G commonName A>G TP53_g.13985T>A commonName T>A TP53_g.12659T>C commonName T>C TP53_g.12659T>C protEffect p.Val197Ala TP53_g.12426G>T commonName G>T TP53_g.12426G>T protEffect p.Trp146Cys TP53_g.11604del commonName del1 TP53_g.11417del commonName del1 TP53_g.13771_13773del commonName del3 TP53_g.11544_11606del commonName del63 TP53_g.13357_13371del commonName del15 TP53_g.12689A>C commonName A>C TP53_g.12689A>C protEffect p.Asp207Ala TP53_g.12448_12456del commonName del9 TP53_g.16971_16972ins1 commonName ins1 TP53_g.12637_12638delinsAA commonName CC>AA TP53_g.12637_12638delinsAA protEffect p.Pro190Asn TP53_g.12487C>G commonName C>G TP53_g.12487C>G protEffect p.Gln167Glu TP53_g.11592T>A commonName T>A TP53_g.11592T>A protEffect p.Ser121Thr TP53_g.11451G>C commonName G>C TP53_g.11451G>C protEffect p.Ala74Pro TP53_g.11599_11606del commonName del8 TP53_g.16930G>C commonName G>C TP53_g.16930G>C protEffect p.Ala347Pro TP53_g.13886_13887ins8 commonName ins8 TP53_g.16945G>T commonName G>T TP53_g.16945G>T protEffect p.Asp352Tyr TP53_g.14052A>G commonName A>G TP53_g.14052A>G protEffect p.Tyr327Cys TP53_g.11409C>G commonName C>G TP53_g.11409C>G protEffect p.Pro60Ala TP53_g.12496_12502del commonName del7 TP53_g.11410C>G commonName C>G TP53_g.11410C>G protEffect p.Pro60Arg TP53_g.12668_12669del commonName del2 TP53_g.11545G>C commonName G>C TP53_g.11545G>C protEffect p.Gly105Ala TP53_g.11206A>G commonName A>G TP53_g.11206A>G protEffect p.Glu28Glu TP53_g.14007del commonName del1 TP53_g.11521_11525del commonName del5 TP53_g.13992C>T commonName C>T TP53_g.13992C>T protEffect p.Ala307Val TP53_g.12405_12406del commonName del2 TP53_g.14044del commonName del1 TP53_g.14062del commonName del1 TP53_g.14063C>G commonName C>G TP53_g.14063C>G protEffect p.Gln331Glu TP53_g.14063_14254del commonName del192 TP53_g.11480_11801del commonName del322 TP53_g.13832_13838del commonName del7 TP53_g.16944G>T commonName G>T TP53_g.16944G>T protEffect p.Lys351Asn TP53_g.12471_12473del commonName del3 TP53_g.13379_13390del commonName del12 TP53_g.11606_11616del commonName del11 TP53_g.12671del commonName del1 TP53_g.11202del commonName del1 TP53_g.11397del commonName del1 TP53_g.11522_11526del commonName del5 TP53_g.12407del commonName del1 TP53_g.12452_12469del commonName del18 TP53_g.12522_12526del commonName del5 TP53_g.12662_12670del commonName del9 TP53_g.13350_13361del commonName del12 TP53_g.14055_14056ins1 commonName ins1 TP53_g.16909A>G commonName A>G TP53_g.16909A>G protEffect p.Met340Val TP53_g.16905_16908del commonName del4 TP53_g.16909_16911del commonName del3 TP53_g.13780_13781delinsCT commonName GG>CT TP53_g.13780_13781delinsCT protEffect p.Arg267Pro TP53_g.11011G>A commonName G>A TP53_g.11011G>A protEffect p.Glu2Glu TP53_g.11339G>A commonName G>A TP53_g.11339G>A protEffect p.Pro36Pro TP53_g.11352_11355del commonName del4 TP53_g.11552del commonName del1 TP53_g.13763del commonName del1 TP53_g.13790_13791delinsA commonName TG>A TP53_g.16889_16890del commonName del2 TP53_g.13868_13869ins5 commonName ins5 TP53_g.13771_13772del commonName del2 TP53_g.12650_12669del commonName del20 TP53_g.12438_12439del commonName del2 TP53_g.11524_11554del commonName del31 TP53_g.13849_13850ins1 commonName ins1 TP53_g.11544_11552del commonName del9 TP53_g.11551_11552ins7 commonName ins7 TP53_g.11605_11624del commonName del20 TP53_g.13863_13875del commonName del13 TP53_g.12374_12376del commonName del3 TP53_g.11366_11367ins2 commonName ins2 TP53_g.11506_11622del commonName del117 TP53_g.11408_11471del commonName del64 TP53_g.17909G>A commonName G>A TP53_g.11548_11557del commonName del10 TP53_g.11370del commonName del1 TP53_g.13998C>T commonName C>T TP53_g.13998C>T protEffect p.Pro309Leu TP53_g.11491C>T commonName C>T TP53_g.11491C>T protEffect p.Pro87Leu TP53_g.12423del commonName del1 TP53_g.12685T>C commonName T>C TP53_g.12685T>C protEffect p.Leu206Leu TP53_g.11395C>T commonName C>T TP53_g.11395C>T protEffect p.Thr55Ile TP53_g.14048G>A commonName G>A TP53_g.14048G>A protEffect p.Glu326Lys TP53_g.11553_11564delinsATTCAG commonName 11553 TP53_g.12614_12624del commonName 12614 TP53_g.14916_17271del commonName 14916 TP53_g.12714del commonName 12714 TP53_g.12640_12641del commonName 12640 TP53_g.12711_12712ins6 commonName 12712 TP53_g.13390C>G commonName 13390 TP53_g.13390C>G protEffect p.Ile251Met TP53_g.13271G>A commonName 13271 TP53_g.12362_12363ins1 commonName 12363 TP53_g.12806_12807ins2 commonName 12807 TP53_g.11081_11247del commonName 11081 TP53_g.11502del commonName 11502 TP53_g.13824_13831del commonName 13824 TP53_g.14066del commonName 14066 TP53_g.12469_12470ins7 commonName 12470 TP53_g.12687_12693del commonName 12687 TP53_g.12618_12628del commonName 12618 TP53_g.13878_13879ins4 commonName 13879 TP53_g.14023G>C commonName 14023 TP53_g.14023G>C protEffect p.Gln317His TP53_g.14033A>G commonName 14033 TP53_g.14033A>G protEffect p.Lys321Glu TP53_g.11317C>G commonName 11317 TP53_g.16967C>T commonName 16967 TP53_g.16967C>T protEffect p.Pro359Leu TP53_g.17750G>A commonName 17750 TP53_g.17401G>A commonName 17401 TP53_g.16897_16898ins6 commonName 16898 TP53_g.11517_11519del commonName 11517 TP53_g.16929_16931del commonName 16929 TP53_g.12483_12484ins3 commonName 12484 TP53_g.17940del commonName 17940 TP53_g.12705del commonName 12705 TP53_g.11381T>A commonName 11381 TP53_g.11381T>A protEffect p.Ile50Ile TP53_g.12712_12729del commonName 12712 TP53_g.11068C>T commonName 11068 TP53_g.11068C>T protEffect p.Asp21Asp TP53_g.12497_12500del commonName 12497 TP53_g.13798_13807del commonName 13798 TP53_g.11559_11560ins7 commonName 11560 TP53_g.12470_12475del commonName 12470 TP53_g.7830A>T commonName 7830 TP53_g.17908A>G commonName 17908 IPNMDB_397 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_397 commonName c.8C>T IPNMDB_397 alias Thr3Ile IPNMDB_398 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_398 commonName c.1166T>C IPNMDB_398 alias Leu389Ser IPNMDB_399 phenoCommon ALS4 / distal HMN with pyramidal tract signs IPNMDB_399 commonName c.6407G>A IPNMDB_399 alias Arg2136His IPNMDB_951 phenoCommon HSN I IPNMDB_951 commonName c.196G>C IPNMDB_951 alias Glu66Gln IPNMDB_952 phenoCommon HSN I IPNMDB_952 commonName c.976delG IPNMDB_952 alias Val326fs IPNMDB_950 phenoCommon HSN I IPNMDB_950 commonName c.1065C>A IPNMDB_950 alias Asn355Lys IPNMDB_380 phenoCommon dHMN / Silver syndrome (SPG17) IPNMDB_380 commonName c.263A>G IPNMDB_380 alias Asn88Ser IPNMDB_381 phenoCommon dHMN / Silver syndrome (SPG17) IPNMDB_381 commonName c.269C>T IPNMDB_381 alias Ser90Leu IPNMDB_954 phenoCommon HSN with spastic paraplegia IPNMDB_954 commonName c.440A>G IPNMDB_954 alias [His147Arg]+[His147Arg] IPNMDB_360 phenoCommon congentital cataracts facial dysmorphism neuropathy syndrome IPNMDB_360 commonName c.863+389C>T IPNMDB_360 alias Leu287fs IPNMDB_643 phenoCommon dHMN with vocal fold paralysis IPNMDB_643 commonName c.175G>A IPNMDB_643 alias Gly59Ser IPNMDB_885 phenoCommon centronuclear myopathy + PNS (CMT2) + CNS abnormalies IPNMDB_885 commonName c.1102G>C IPNMDB_885 alias Glu368Gln IPNMDB_886 phenoCommon CMT2 IPNMDB_886 commonName c.1597G>T IPNMDB_886 alias Gly533Cys IPNMDB_729 phenoCommon CMT1/2 IPNMDB_729 commonName c.1652_1659+1delATGAGGAGg IPNMDB_729 alias Asp551_Glu553del; Asp551fs IPNMDB_730 phenoCommon CMT1/2 IPNMDB_730 commonName c.1672_1674delAAG IPNMDB_730 alias Lys558del IPNMDB_731 phenoCommon CMT1/2 IPNMDB_731 commonName c.1672A>G IPNMDB_731 alias Lys558Glu IPNMDB_887 phenoCommon CMT2 IPNMDB_887 commonName c.1697T>A IPNMDB_887 alias Leu566His IPNMDB_281 phenoCommon CH IPNMDB_281 commonName c.803T>A IPNMDB_281 alias [Ile268Asn]+[Ile268Asn] IPNMDB_334 phenoCommon CMT1-severe IPNMDB_334 commonName c.1064A>T IPNMDB_334 alias Asp355Val IPNMDB_282 phenoCommon DSS (plus cranial nerve involvement)/CMT1 IPNMDB_282 commonName c.1075C>T IPNMDB_282 alias Arg359Trp IPNMDB_815 phenoCommon CMT1 + progressive scoliosis IPNMDB_815 commonName c.1076G>A IPNMDB_815 alias Arg359Gln IPNMDB_286 phenoCommon - (polymorphism) IPNMDB_286 commonName c.1086A>C IPNMDB_286 alias Arg362Arg IPNMDB_487 phenoCommon CMT1 IPNMDB_487 commonName c.1141C>T IPNMDB_487 alias Arg381Cys IPNMDB_335 phenoCommon CMT1 (+ cranial nerve involvement) IPNMDB_335 commonName c.1142G>A IPNMDB_335 alias Arg381His IPNMDB_283 phenoCommon CH IPNMDB_283 commonName c.[1146T>G;1147G>T] IPNMDB_283 alias [Ser382Arg; Asp383Tyr] IPNMDB_36 phenoCommon DSS IPNMDB_36 commonName c.1147G>T IPNMDB_36 alias Asp383Tyr IPNMDB_284 phenoCommon CMT1 IPNMDB_284 commonName c.1225C>T IPNMDB_284 alias Arg409Trp IPNMDB_923 phenoCommon DSS IPNMDB_923 commonName c.1234G>A IPNMDB_923 alias Glu412Lys IPNMDB_379 phenoCommon unspecified CMT IPNMDB_379 commonName c.1352G>T IPNMDB_379 alias Gly451Val IPNMDB_949 phenoCommon HSN II IPNMDB_949 commonName c.873+2T>C IPNMDB_949 alias [5'-splice site]+[5'-splice site] IPNMDB_926 phenoCommon CMT4H IPNMDB_926 commonName c.670C>T IPNMDB_926 alias [Arg224X]+[Arg224X] IPNMDB_930 phenoCommon CMT4H IPNMDB_930 commonName c.893T>C IPNMDB_930 alias [Met298Thr]+[Met298Thr] IPNMDB_927 phenoCommon CMT4H IPNMDB_927 commonName c.893T>G IPNMDB_927 alias [Met298Arg]+[Met298Arg]/[Met298fs]+[Met298fs] IPNMDB_928 phenoCommon CMT4H IPNMDB_928 commonName c.1628_1629delAG IPNMDB_928 alias [Glu543fs]+[Glu543fs] IPNMDB_929 phenoCommon CMT4H IPNMDB_929 commonName c.1756G>T IPNMDB_929 alias [Gly586X]+[Gly586X] IPNMDB_932 phenoCommon CMT4J IPNMDB_932 commonName c.[122T>C]+[294delT] IPNMDB_932 alias [Ile41Thr]+[Phe98fs] IPNMDB_934 phenoCommon CMT4J IPNMDB_934 commonName c.[122T>C]+[759delG] IPNMDB_934 alias [Ile41Thr]+[Gly253fs] IPNMDB_935 phenoCommon CMT4J IPNMDB_935 commonName c.[122T>C]+[1043_1050delATCAGGCA] IPNMDB_935 alias [Ile41Thr]+[Asp348fs] IPNMDB_474 phenoCommon GAN IPNMDB_474 commonName c.18_19insA IPNMDB_474 alias [Val7fs]+[Val7fs] IPNMDB_679 phenoCommon GAN IPNMDB_679 commonName c.[20_57del38]+[896A>C] IPNMDB_679 alias [Val7fs]+[Tyr299Cys] IPNMDB_472 phenoCommon GAN IPNMDB_472 commonName c.43C>A IPNMDB_472 alias [Arg15Ser]+[Arg15Ser] IPNMDB_678 phenoCommon GAN IPNMDB_678 commonName c.[145G>A]+[944C>T] IPNMDB_678 alias [Ala49Thr]+[Pro315Leu] IPNMDB_909 phenoCommon GAN IPNMDB_909 commonName c.151G>C IPNMDB_909 alias [Ala51Pro]+[Ala51Pro] IPNMDB_480 phenoCommon GAN IPNMDB_480 commonName c.[154A>G]+[1179T>A] IPNMDB_480 alias [Ser52Gly]+[Cys393X] IPNMDB_903 phenoCommon GAN IPNMDB_903 commonName c.168-1G>A IPNMDB_903 alias [Arg56fs]+[Arg56fs] IPNMDB_911 phenoCommon GAN IPNMDB_911 commonName c.213T>A IPNMDB_911 alias [Tyr71X]+[Tyr71X] IPNMDB_481 phenoCommon GAN (mut. in 2nd allele unknown) IPNMDB_481 commonName c.[236C>T]+[?] IPNMDB_481 alias [Ser79Leu]+[?] IPNMDB_476 phenoCommon GAN (mut. in 2nd allele unknown) IPNMDB_476 commonName c.[244G>T]+[?] IPNMDB_476 alias [Val82Phe]+[?] IPNMDB_652 phenoCommon GAN IPNMDB_652 commonName c.[256A>T]+[340_357delCTGACGGACCTTAAAACC] IPNMDB_652 alias [Ile86Phe]+[Leul114_Thr119del] IPNMDB_902 phenoCommon GAN IPNMDB_902 commonName c.[266A>G]+[1102G>A] IPNMDB_902 alias [Tyr89Cys]+[Gly368Arg] IPNMDB_482 phenoCommon GAN IPNMDB_482 commonName c.413G>A IPNMDB_482 alias [Arg138His]+[Arg138His] IPNMDB_906 phenoCommon GAN IPNMDB_906 commonName c.[583G>T]+[633+1G>T] IPNMDB_906 alias [Val195Phe]+[5'-splice site mutation] IPNMDB_569 phenoCommon GAN IPNMDB_569 commonName c.[601C>T]+[1268T>C] IPNMDB_569 alias [Arg201X]+[Ile423Thr] IPNMDB_649 phenoCommon GAN IPNMDB_649 commonName c.724C>T IPNMDB_649 alias [Arg242X]+[Arg242X] IPNMDB_483 phenoCommon GAN IPNMDB_483 commonName c.806G>A IPNMDB_483 alias Arg269Gln IPNMDB_836 phenoCommon GAN IPNMDB_836 commonName c.877C>T IPNMDB_836 alias [Arg293X]+[Arg293X] IPNMDB_479 phenoCommon GAN IPNMDB_479 commonName c.[877C>T]+[1709G>A] IPNMDB_479 alias [Arg293X]+[Cys570Tyr] IPNMDB_908 phenoCommon GAN IPNMDB_908 commonName c.[944C>T]+[1553_1554delTT] IPNMDB_908 alias [Pro315Leu]+[Phe518fs] IPNMDB_677 phenoCommon GAN IPNMDB_677 commonName c.[1086+1G>C]+[1529T>G] IPNMDB_677 alias [5'-splice site]+[Leu510X] IPNMDB_484 phenoCommon - (polymorphism) IPNMDB_484 commonName c.1086+71C>T IPNMDB_648 phenoCommon GAN IPNMDB_648 commonName c.1102G>A IPNMDB_648 alias [Gly368Arg]+[Gly368Arg] IPNMDB_477 phenoCommon GAN IPNMDB_477 commonName c.[1203G>A]+[1456G>A] IPNMDB_477 alias [Trp401X]+[Glu486Lys] IPNMDB_485 phenoCommon - (polymorphism) IPNMDB_485 commonName c.1293T>C IPNMDB_485 alias Tyr431Tyr IPNMDB_904 phenoCommon GAN IPNMDB_904 commonName c.[1420G>C]+[1429C>T] IPNMDB_904 alias [Gly474Arg]+[Arg477X] IPNMDB_650 phenoCommon GAN IPNMDB_650 commonName c.1429C>T IPNMDB_650 alias [Arg477X]+[Arg477X] IPNMDB_475 phenoCommon GAN IPNMDB_475 commonName c.1447C>T IPNMDB_475 alias [Gln483X]+[Gln483X] IPNMDB_473 phenoCommon GAN IPNMDB_473 commonName c.1456G>A IPNMDB_473 alias [Glu486Lys]+[Glu486Lys] IPNMDB_837 phenoCommon GAN IPNMDB_837 commonName c.1502+1G>T IPNMDB_837 alias 5'-splice site mutation IPNMDB_910 phenoCommon GAN IPNMDB_910 commonName c.1505G>A IPNMDB_910 alias [Trp502X]+[Trp502X] IPNMDB_478 phenoCommon GAN IPNMDB_478 commonName c.1633C>T IPNMDB_478 alias [Arg545Cys]+[Arg545Cys] IPNMDB_905 phenoCommon GAN IPNMDB_905 commonName c.1634G>A IPNMDB_905 alias [Arg545His]+[Arg545His] IPNMDB_676 phenoCommon GAN IPNMDB_676 commonName c.1684C>G IPNMDB_676 alias [Pro562Ala]+[Pro562Ala] IPNMDB_920 phenoCommon dHMN V + ptosis IPNMDB_920 commonName c.170C>T IPNMDB_920 alias Ala57Val IPNMDB_655 phenoCommon CMT2 / dHMN V IPNMDB_655 commonName c.212A>G IPNMDB_655 alias Glu71Gly IPNMDB_656 phenoCommon dHMN V IPNMDB_656 commonName c.385C>T IPNMDB_656 alias Leu129Pro IPNMDB_657 phenoCommon CMT2 IPNMDB_657 commonName c.718G>C IPNMDB_657 alias Gly240Arg IPNMDB_829 phenoCommon dHMN V IPNMDB_829 commonName c.838A>T IPNMDB_829 alias Ile280Phe IPNMDB_825 phenoCommon dHMN V IPNMDB_825 commonName c.1253A>G IPNMDB_825 alias His418Arg IPNMDB_826 phenoCommon CMT2 / dHMN IPNMDB_826 commonName c.1498G>A IPNMDB_826 alias Asp500Asn IPNMDB_658 phenoCommon dHMN V IPNMDB_658 commonName c.1576G>C IPNMDB_658 alias Gly526Arg IPNMDB_828 phenoCommon CMT2 IPNMDB_828 commonName c.1742C>T IPNMDB_828 alias Ser581Leu IPNMDB_564 phenoCommon CMT4A IPNMDB_564 commonName c.92G>A IPNMDB_564 alias [Trp31X]+[Trp31X] IPNMDB_752 phenoCommon CMT2 IPNMDB_752 commonName c.[311-1G>A]+[389C>G] IPNMDB_752 alias [3'-splice site mutation]+[Ser130Cys] IPNMDB_671 phenoCommon CMT2 IPNMDB_671 commonName c.[341_344delAAAG]+[487C>T] IPNMDB_671 alias [Glu114fs]+[Gln163X] IPNMDB_367 phenoCommon CMT4A IPNMDB_367 commonName c.[341_344delAAAG]+[715C>T] IPNMDB_367 alias [Glu114fs]+[Leu239Phe] IPNMDB_812 phenoCommon CMT2 IPNMDB_812 commonName c.347T>C IPNMDB_812 alias [Met116Thr]+[Met116Thr] IPNMDB_732 phenoCommon CMT4A (+pyramidal features) IPNMDB_732 commonName c.347T>G IPNMDB_732 alias [Met116Arg]+[Met116Arg] IPNMDB_611 phenoCommon CMT4A IPNMDB_611 commonName c.349_350insT IPNMDB_611 alias [Tyr117fs]+[Tyr117fs] IPNMDB_672 phenoCommon CMT2 IPNMDB_672 commonName c.358C>T IPNMDB_672 alias Arg120Trp IPNMDB_368 phenoCommon CMT4A IPNMDB_368 commonName c.[358C>T]+[811G>A] IPNMDB_368 alias [Arg120Trp]+[Gly271Arg] IPNMDB_642 phenoCommon DSS + vocal cord paresis + facial weakness IPNMDB_642 commonName c.359G>A IPNMDB_642 alias [Arg120Gln]+[Arg120Gln] IPNMDB_874 phenoCommon CMT4A IPNMDB_874 commonName c.439delA IPNMDB_874 alias [Thr147fs]+[Thr147fs] IPNMDB_734 phenoCommon CMT4A IPNMDB_734 commonName c.445G>T IPNMDB_734 alias [Asp149Tyr]+[Asp149Tyr] IPNMDB_900 phenoCommon CMT2 + hoarseness IPNMDB_900 commonName c.458C>T IPNMDB_900 alias [Pro153Leu]+[Pro153Leu] IPNMDB_673 phenoCommon CMT2 IPNMDB_673 commonName c.469A>C IPNMDB_673 alias Thr157Pro IPNMDB_566 phenoCommon CMT4A IPNMDB_566 commonName c.482G>A IPNMDB_566 alias [Arg161His]+[Arg161His] IPNMDB_366 phenoCommon CMT4A IPNMDB_366 commonName c.485-2A>G IPNMDB_366 alias [Ser162fsX166]+[Ser162fsX166] IPNMDB_561 phenoCommon CMT2 / DSS (+ vocal cord paresis + facial weakness) IPNMDB_561 commonName c.487C>T IPNMDB_561 alias [Gln163X]+[Gln163X] IPNMDB_562 phenoCommon CMT2 with vocal cord paresis IPNMDB_562 commonName c.[487C>T]+[581C>G] IPNMDB_562 alias [Gln163X]+[Ser194X] IPNMDB_612 phenoCommon - (polymorphism) IPNMDB_612 commonName c.507T>G IPNMDB_612 alias Ser169Ser IPNMDB_875 phenoCommon CMT4A IPNMDB_875 commonName c.[571C>T]+[715C>T] IPNMDB_875 alias [Arg191X]+[Leu239Phe] IPNMDB_613 phenoCommon CMT4A IPNMDB_613 commonName c.579+1G>A IPNMDB_613 alias [5'-splice site]+[5'-splice site] IPNMDB_674 phenoCommon CMT2 + vocal cord and diaphragm paralysis IPNMDB_674 commonName c.558delT IPNMDB_674 alias [Ile186fs]+[Ile186fs] IPNMDB_565 phenoCommon CMT4A IPNMDB_565 commonName c.581C>G IPNMDB_565 alias [Ser194X]+[Ser194X] IPNMDB_361 phenoCommon CMT2 (+vocal cord and diaphragm paresis) IPNMDB_361 commonName c.[581C>G]+[929G>A] IPNMDB_361 alias [Ser194X]+[Arg310Gln] IPNMDB_365 phenoCommon CMT4A IPNMDB_365 commonName c.668T>A IPNMDB_365 alias [Leu223X]+[Leu223X] IPNMDB_813 phenoCommon CMT4A IPNMDB_813 commonName c.715C>T IPNMDB_813 alias [Leu239Phe]+[Leu239Phe] IPNMDB_609 phenoCommon CMT4A IPNMDB_609 commonName c.786delG IPNMDB_609 alias [Gly262fs]+[Gly262fs] IPNMDB_610 phenoCommon CMT4A IPNMDB_610 commonName c.844C>T IPNMDB_610 alias [Arg282Cys]+[Arg282Cys] IPNMDB_104 phenoCommon CMT1X IPNMDB_104 commonName c.7T>C IPNMDB_104 alias Trp3Arg IPNMDB_288 commonName c.8G>A IPNMDB_288 alias Trp3X IPNMDB_105 phenoCommon CMT1X IPNMDB_105 commonName c.8G>C IPNMDB_105 alias Trp3Ser IPNMDB_466 phenoCommon CMT1X IPNMDB_466 commonName c.9G>A IPNMDB_466 alias Trp3X IPNMDB_616 phenoCommon CMT1X IPNMDB_616 commonName c.20_22delACA IPNMDB_616 alias Tyr7_Thr8delinsSer IPNMDB_106 phenoCommon CMT1X IPNMDB_106 commonName c.20A>G IPNMDB_106 alias Tyr7Cys IPNMDB_107 phenoCommon CMT1X IPNMDB_107 commonName c.22A>C IPNMDB_107 alias Thr8Pro IPNMDB_289 phenoCommon CMT1X IPNMDB_289 commonName c.26T>G IPNMDB_289 alias Leu9Trp IPNMDB_681 phenoCommon CMT1X IPNMDB_681 commonName c.27G>T IPNMDB_681 alias Leu9Phe IPNMDB_628 phenoCommon - (polymorphism) IPNMDB_628 commonName c.30C>T IPNMDB_628 alias Leu10Leu IPNMDB_108 phenoCommon CMT1X IPNMDB_108 commonName c.31A>G IPNMDB_108 alias Ser11Gly IPNMDB_109 phenoCommon CMT1X IPNMDB_109 commonName c.34G>A IPNMDB_109 alias Gly12Ser IPNMDB_290 phenoCommon - (polymorphism) IPNMDB_290 commonName c.36C>T IPNMDB_290 alias Gly12Gly IPNMDB_111 phenoCommon CMT1X IPNMDB_111 commonName c.37G>A IPNMDB_111 alias Val13Met IPNMDB_110 phenoCommon CMT1X IPNMDB_110 commonName c.37G>T IPNMDB_110 alias Val13Leu IPNMDB_378 phenoCommon unspecified CMT IPNMDB_378 commonName c.43delC IPNMDB_378 alias Arg15fs IPNMDB_114 phenoCommon CMT1X IPNMDB_114 commonName c.43C>T IPNMDB_114 alias Arg15Trp IPNMDB_113 phenoCommon CMT1X IPNMDB_113 commonName c.44G>A IPNMDB_113 alias Arg15Gln IPNMDB_115 phenoCommon CMT1X IPNMDB_115 commonName c.47A>C IPNMDB_115 alias His16Pro IPNMDB_345 phenoCommon CMT1 IPNMDB_345 commonName c.[59T>A;61G>A] IPNMDB_345 alias [Ile20Asn;Gly21Ser] IPNMDB_116 phenoCommon CMT1X IPNMDB_116 commonName c.59T>G IPNMDB_116 alias Ile20Ser IPNMDB_117 phenoCommon CMT1X IPNMDB_117 commonName c.62G>A IPNMDB_117 alias Gly21Asp IPNMDB_119 phenoCommon CMT1X IPNMDB_119 commonName c.64C>G IPNMDB_119 alias Arg22Gly IPNMDB_121 phenoCommon CMT1X IPNMDB_121 commonName c.64C>T IPNMDB_121 alias Arg22X IPNMDB_118 phenoCommon CMT1X IPNMDB_118 commonName c.65G>A IPNMDB_118 alias Arg22Gln IPNMDB_122 phenoCommon CMT1X IPNMDB_122 commonName c.[65G>A;187G>A] IPNMDB_122 alias [Arg22Gln;Val63Ile] IPNMDB_120 phenoCommon CMT1X IPNMDB_120 commonName c.65G>C IPNMDB_120 alias Arg22Pro IPNMDB_349 phenoCommon CMT1/2 IPNMDB_349 commonName c.68T>A IPNMDB_349 alias Val23Glu IPNMDB_123 phenoCommon CMT1X IPNMDB_123 commonName c.68T>C IPNMDB_123 alias Val23Ala IPNMDB_584 phenoCommon CMT1X + CNS involvement IPNMDB_584 commonName c.72G>T IPNMDB_584 alias Trp24Cys IPNMDB_124 phenoCommon CMT1X IPNMDB_124 commonName c.73C>T IPNMDB_124 alias Leu25Phe IPNMDB_532 phenoCommon CMT1 IPNMDB_532 commonName c.74T>C IPNMDB_532 alias Leu25Pro IPNMDB_126 phenoCommon CMT1X IPNMDB_126 commonName c.77C>A IPNMDB_126 alias Ser26X IPNMDB_491 phenoCommon CMT1X IPNMDB_491 commonName c.77C>G IPNMDB_491 alias Ser26Trp IPNMDB_125 phenoCommon CMT1X IPNMDB_125 commonName c.77C>T IPNMDB_125 alias Ser26Leu IPNMDB_127 phenoCommon CMT1X IPNMDB_127 commonName c.83T>A IPNMDB_127 alias Ile28Asn IPNMDB_128 phenoCommon CMT1X IPNMDB_128 commonName c.83T>C IPNMDB_128 alias Ile28Thr IPNMDB_130 phenoCommon CMT1X IPNMDB_130 commonName c.85T>C IPNMDB_130 alias Phe29Leu IPNMDB_292 commonName c.88A>T IPNMDB_292 alias Ile30Phe IPNMDB_131 phenoCommon CMT1X IPNMDB_131 commonName c.89T>A IPNMDB_131 alias Ile30Asn IPNMDB_293 phenoCommon CMT1X IPNMDB_293 commonName c.89T>C IPNMDB_293 alias Ile30Thr IPNMDB_291 commonName c.90C>G IPNMDB_291 alias Ile30Met IPNMDB_129 phenoCommon CMT1X IPNMDB_129 commonName c.94_95insTCTTCA IPNMDB_129 alias Phe31_Arg32insIlePhe IPNMDB_133 phenoCommon CMT1X IPNMDB_133 commonName c.100A>G IPNMDB_133 alias Met34Val IPNMDB_344 phenoCommon CMT1/2 IPNMDB_344 commonName c.101T>A IPNMDB_344 alias Met34Lys IPNMDB_132 phenoCommon CMT1X IPNMDB_132 commonName c.101T>C IPNMDB_132 alias Met34Thr IPNMDB_294 commonName c.102G>A IPNMDB_294 alias Met34Ile IPNMDB_134 phenoCommon CMT1X IPNMDB_134 commonName c.103G>A IPNMDB_134 alias Val35Met IPNMDB_135 phenoCommon CMT1X IPNMDB_135 commonName c.109G>A IPNMDB_135 alias Val37Met IPNMDB_136 phenoCommon CMT1X IPNMDB_136 commonName c.112G>A IPNMDB_136 alias Val38Met IPNMDB_742 phenoCommon CMT1X + hearing loss IPNMDB_742 commonName c.113T>C IPNMDB_742 alias Val38Ala IPNMDB_738 phenoCommon CMT1X IPNMDB_738 commonName c.114_115insC IPNMDB_738 alias Ala39fs IPNMDB_137 phenoCommon CMT1X IPNMDB_137 commonName c.115G>C IPNMDB_137 alias Ala39Pro IPNMDB_925 phenoCommon CMT IPNMDB_925 commonName c.115delG IPNMDB_925 alias Ala39fs IPNMDB_138 phenoCommon CMT1X (+ CNS involvement) IPNMDB_138 commonName c.116C>T IPNMDB_138 alias Ala39Val IPNMDB_739 phenoCommon CMT1X IPNMDB_739 commonName c.118G>A IPNMDB_739 alias Ala40Thr IPNMDB_139 phenoCommon CMT1X IPNMDB_139 commonName c.119C>T IPNMDB_139 alias Ala40Val IPNMDB_140 phenoCommon CMT1X IPNMDB_140 commonName c.121G>A IPNMDB_140 alias Glu41Lys IPNMDB_833 phenoCommon CMT1X + CNS involvement IPNMDB_833 commonName c.123G>C IPNMDB_833 alias Glu41Asp IPNMDB_141 phenoCommon CMT1X IPNMDB_141 commonName c.124delA IPNMDB_141 alias Ser42fs IPNMDB_142 phenoCommon CMT1X IPNMDB_142 commonName c.127G>A IPNMDB_142 alias Val43Met IPNMDB_295 commonName c.131G>A IPNMDB_295 alias Trp44X IPNMDB_143 phenoCommon CMT1X IPNMDB_143 commonName c.131G>T IPNMDB_143 alias Trp44Leu IPNMDB_438 phenoCommon CMT1X IPNMDB_438 commonName c.132G>A IPNMDB_438 alias Trp44X IPNMDB_917 phenoCommon CMT1 IPNMDB_917 commonName c.137A>G IPNMDB_917 alias Asp46Gly IPNMDB_880 phenoCommon CMT1 IPNMDB_880 commonName c.140A>G IPNMDB_880 alias Glu47Gly IPNMDB_577 phenoCommon CMT1X IPNMDB_577 commonName c.145T>C IPNMDB_577 alias Ser49Pro IPNMDB_144 phenoCommon CMT2 IPNMDB_144 commonName c.146C>A IPNMDB_144 alias Ser49Tyr IPNMDB_145 phenoCommon CMT1X IPNMDB_145 commonName c.148T>C IPNMDB_145 alias Ser50Pro IPNMDB_296 commonName c.153C>A IPNMDB_296 alias Phe51Leu IPNMDB_146 phenoCommon CMT1X IPNMDB_146 commonName c.158G>C IPNMDB_146 alias Cys53Ser IPNMDB_685 phenoCommon CMT IPNMDB_685 commonName c.163A>G IPNMDB_685 alias Thr55Ala IPNMDB_579 phenoCommon CMT1X + CNS involvement IPNMDB_579 commonName c.164C>G IPNMDB_579 alias Thr55Arg IPNMDB_147 phenoCommon CMT1X IPNMDB_147 commonName c.164C>T IPNMDB_147 alias Thr55Ile IPNMDB_148 phenoCommon CMT1X IPNMDB_148 commonName c.166C>T IPNMDB_148 alias Leu56Phe IPNMDB_149 phenoCommon CMT1X IPNMDB_149 commonName c.171G>C IPNMDB_149 alias Gln57His IPNMDB_150 phenoCommon CMT1X IPNMDB_150 commonName c.173C>G IPNMDB_150 alias Pro58Arg IPNMDB_297 phenoCommon CMT1X IPNMDB_297 commonName c.175G>C IPNMDB_297 alias Gly59Arg IPNMDB_151 phenoCommon CMT1X IPNMDB_151 commonName c.175G>T IPNMDB_151 alias Gly59Cys IPNMDB_299 commonName c.178T>A IPNMDB_299 alias Cys60Ser IPNMDB_298 commonName c.178T>C IPNMDB_298 alias Cys60Arg IPNMDB_152 phenoCommon CMT1X IPNMDB_152 commonName c.179G>T IPNMDB_152 alias Cys60Phe IPNMDB_572 phenoCommon CMT1X (+ CNS involvement) IPNMDB_572 commonName c.184_185insCACTCCAGCCTGGCTGCAACA IPNMDB_572 alias Asn61_Ser62insTyrLeuGlnProGlyCysAsn IPNMDB_153 phenoCommon CMT1X (+ deafness) IPNMDB_153 commonName c.187G>A IPNMDB_153 alias Val63Ile IPNMDB_154 phenoCommon CMT1X IPNMDB_154 commonName c.191G>C IPNMDB_154 alias Cys64Ser IPNMDB_492 phenoCommon CMT1X IPNMDB_492 commonName c.191G>T IPNMDB_492 alias Cys64Phe IPNMDB_465 phenoCommon CMT1X IPNMDB_465 commonName c.193T>C IPNMDB_465 alias Tyr65His IPNMDB_155 phenoCommon CMT1X IPNMDB_155 commonName c.194A>G IPNMDB_155 alias Tyr65Cys IPNMDB_156 phenoCommon CMT1X IPNMDB_156 commonName c.196_198delGAC IPNMDB_156 alias Asp66del IPNMDB_300 phenoCommon CMT2 IPNMDB_300 commonName c.205T>C IPNMDB_300 alias Phe69Leu IPNMDB_301 phenoCommon CMT1X IPNMDB_301 commonName c.208C>G IPNMDB_301 alias Pro70Ala IPNMDB_302 commonName c.208C>T IPNMDB_302 alias Pro70Ser IPNMDB_157 phenoCommon CMT1X IPNMDB_157 commonName c.210_211insC IPNMDB_157 alias Ile71fs IPNMDB_303 commonName c.215C>T IPNMDB_303 alias Ser72Phe IPNMDB_158 phenoCommon CMT1X IPNMDB_158 commonName c.217delC IPNMDB_158 alias His73fs IPNMDB_161 phenoCommon CMT1X / CMT2 (+CNS involvement) IPNMDB_161 commonName c.223C>T IPNMDB_161 alias Arg75Trp IPNMDB_159 phenoCommon CMT1X IPNMDB_159 commonName c.224G>A IPNMDB_159 alias Arg75Gln IPNMDB_160 phenoCommon CMT1X IPNMDB_160 commonName c.224G>C IPNMDB_160 alias Arg75Pro IPNMDB_162 phenoCommon CMT1X IPNMDB_162 commonName c.230G>C IPNMDB_162 alias Trp77Ser IPNMDB_304 commonName c.230G>T IPNMDB_304 alias Trp77Leu IPNMDB_163 phenoCommon CMT1X IPNMDB_163 commonName c.231G>A IPNMDB_163 alias Trp77X IPNMDB_279 phenoCommon - (polymorphism) IPNMDB_279 commonName c.235C>T IPNMDB_279 alias Leu79Leu IPNMDB_165 phenoCommon CMT1X IPNMDB_165 commonName c.238C>T IPNMDB_165 alias Gln80X IPNMDB_164 phenoCommon CMT1X IPNMDB_164 commonName c.239A>G IPNMDB_164 alias Gln80Arg IPNMDB_166 phenoCommon CMT1X IPNMDB_166 commonName c.241C>T IPNMDB_166 alias Leu81Phe IPNMDB_305 commonName c.242T>A IPNMDB_305 alias Leu81His IPNMDB_167 phenoCommon CMT1X IPNMDB_167 commonName c.248T>C IPNMDB_167 alias Leu83Pro IPNMDB_467 phenoCommon CMT1/2 IPNMDB_467 commonName c.248T>G IPNMDB_467 alias Leu83Arg IPNMDB_168 phenoCommon CMT1X IPNMDB_168 commonName c.250G>A IPNMDB_168 alias Val84Ile IPNMDB_169 phenoCommon CMT1X IPNMDB_169 commonName c.254C>G IPNMDB_169 alias Ser85Cys IPNMDB_170 phenoCommon CMT1X IPNMDB_170 commonName c.254C>T IPNMDB_170 alias Ser85Phe IPNMDB_171 phenoCommon CMT1X IPNMDB_171 commonName c.256A>G IPNMDB_171 alias Thr86Ala IPNMDB_173 phenoCommon CMT1X IPNMDB_173 commonName c.256A>T IPNMDB_173 alias Thr86Ser IPNMDB_172 phenoCommon CMT1X IPNMDB_172 commonName c.257C>A IPNMDB_172 alias Thr86Asn IPNMDB_174 phenoCommon CMT1X IPNMDB_174 commonName c.259C>G IPNMDB_174 alias Pro87Ala IPNMDB_176 phenoCommon CMT1X IPNMDB_176 commonName c.259C>T IPNMDB_176 alias Pro87Ser IPNMDB_175 phenoCommon CMT1X IPNMDB_175 commonName c.260C>T IPNMDB_175 alias Pro87Leu IPNMDB_306 commonName c.265C>G IPNMDB_306 alias Leu89Val IPNMDB_177 phenoCommon CMT1X IPNMDB_177 commonName c.266T>C IPNMDB_177 alias Leu89Pro IPNMDB_346 phenoCommon CMT1/2 IPNMDB_346 commonName c.268C>G IPNMDB_346 alias Leu90Val IPNMDB_178 phenoCommon CMT1X IPNMDB_178 commonName c.269T>A IPNMDB_178 alias Leu90His IPNMDB_308 phenoCommon CMT1X IPNMDB_308 commonName c.271G>A IPNMDB_308 alias Val91Met IPNMDB_307 commonName c.272T>C IPNMDB_307 alias Val91Ala IPNMDB_179 phenoCommon CMT1X IPNMDB_179 commonName c.273_274delGG IPNMDB_179 alias Val91fs IPNMDB_180 phenoCommon CMT1X IPNMDB_180 commonName c.275_276delCC IPNMDB_180 alias Ala92fs IPNMDB_181 phenoCommon CMT1X IPNMDB_181 commonName c.277A>G IPNMDB_181 alias Met93Val IPNMDB_688 phenoCommon CMT1/2 IPNMDB_688 commonName c.280C>G IPNMDB_688 alias His94Asp IPNMDB_183 phenoCommon CMT1X IPNMDB_183 commonName c.280C>T IPNMDB_183 alias His94Tyr IPNMDB_182 phenoCommon CMT1X IPNMDB_182 commonName c.282C>A IPNMDB_182 alias His94Gln IPNMDB_350 phenoCommon CMT1 IPNMDB_350 commonName c.282C>G IPNMDB_350 alias His94Gln IPNMDB_184 phenoCommon CMT1X IPNMDB_184 commonName c.283G>A IPNMDB_184 alias Val95Met IPNMDB_309 commonName c.287C>T IPNMDB_309 alias Ala96Val IPNMDB_185 phenoCommon CMT1X IPNMDB_185 commonName c.298C>T IPNMDB_185 alias His100Tyr IPNMDB_187 phenoCommon CMT1X IPNMDB_187 commonName c.304G>T IPNMDB_187 alias Glu102X IPNMDB_186 phenoCommon CMT1X IPNMDB_186 commonName c.305A>G IPNMDB_186 alias Glu102Gly IPNMDB_556 phenoCommon CMT1 + white matter lesions IPNMDB_556 commonName c.304_306delGAG IPNMDB_556 alias Glu102del IPNMDB_188 phenoCommon CMT1X IPNMDB_188 commonName c.307A>G IPNMDB_188 alias Lys103Glu IPNMDB_189 phenoCommon CMT1X IPNMDB_189 commonName c.311A>C IPNMDB_189 alias Lys104Thr IPNMDB_190 phenoCommon CMT1X IPNMDB_190 commonName c.313delA IPNMDB_190 alias Met105fs IPNMDB_310 phenoCommon - (polymorphism) IPNMDB_310 commonName c.318A>G IPNMDB_310 alias Leu106Leu IPNMDB_191 phenoCommon CMT1X IPNMDB_191 commonName c.319C>T IPNMDB_191 alias Arg107Trp IPNMDB_568 phenoCommon CMT2 IPNMDB_568 commonName c.323T>C IPNMDB_568 alias Leu108Pro IPNMDB_580 phenoCommon CMT1X + CNS involvement IPNMDB_580 commonName c.324_325insT IPNMDB_580 alias Glu109X IPNMDB_408 phenoCommon CMT1X IPNMDB_408 commonName c.329G>A IPNMDB_408 alias Gly110Asp IPNMDB_192 phenoCommon CMT1X IPNMDB_192 commonName c.332_349delATGGGGACCCCCTACACC IPNMDB_192 alias His111_His116del IPNMDB_422 phenoCommon CMT1X IPNMDB_422 commonName c.338_345delACCCCCTA insTGGC IPNMDB_422 alias Asp113fs IPNMDB_629 phenoCommon CMT1 IPNMDB_629 commonName c.358_360delGTG IPNMDB_629 alias Val120del IPNMDB_193 phenoCommon CMT1X (+ CNS involvement) IPNMDB_193 commonName c.359T>A IPNMDB_193 alias Val120Glu IPNMDB_195 phenoCommon CMT1X IPNMDB_195 commonName c.371delA IPNMDB_195 alias Lys124fs IPNMDB_194 phenoCommon CMT1X IPNMDB_194 commonName c.372G>C IPNMDB_194 alias Lys124Asn IPNMDB_581 phenoCommon CMT1X IPNMDB_581 commonName c.374T>A IPNMDB_581 alias Val125Asp IPNMDB_682 phenoCommon CMT IPNMDB_682 commonName c.380T>G IPNMDB_682 alias Ile127Ser IPNMDB_311 phenoCommon CMT1X IPNMDB_311 commonName c.381C>G IPNMDB_311 alias Ile127Met IPNMDB_196 phenoCommon CMT1X IPNMDB_196 commonName c.382T>C IPNMDB_196 alias Ser128Pro IPNMDB_441 phenoCommon CMT1 IPNMDB_441 commonName c.383C>G IPNMDB_441 alias Ser128X IPNMDB_689 phenoCommon CMT1/2 IPNMDB_689 commonName c.389C>T IPNMDB_689 alias Thr130Ile IPNMDB_313 phenoCommon CMT1X (+CNS involvement) IPNMDB_313 commonName c.392T>C IPNMDB_313 alias Leu131Pro IPNMDB_312 phenoCommon - (polymorphism) IPNMDB_312 commonName c.393G>A IPNMDB_312 alias Leu131Leu IPNMDB_198 phenoCommon CMT1X IPNMDB_198 commonName c.394_395delTG IPNMDB_198 alias Trp132fs IPNMDB_494 phenoCommon CMT1X IPNMDB_494 commonName c.396G>A IPNMDB_494 alias Trp132X IPNMDB_199 phenoCommon CMT1X IPNMDB_199 commonName c.397T>C IPNMDB_199 alias Trp133Arg IPNMDB_201 phenoCommon CMT1X IPNMDB_201 commonName c.399G>A IPNMDB_201 alias Trp133X IPNMDB_200 phenoCommon CMT1X IPNMDB_200 commonName c.399G>T IPNMDB_200 alias Trp133Cys IPNMDB_314 commonName c.401C>A IPNMDB_314 alias Thr134Asn IPNMDB_202 phenoCommon CMT1X IPNMDB_202 commonName c.404A>G IPNMDB_202 alias Tyr135Cys IPNMDB_725 phenoCommon DSS IPNMDB_725 commonName GJB1:c.[407T>C]+EGR2:c.[1075C>T] IPNMDB_725 alias GJB1:[Val136Ala]+EGR2:[Arg359Trp] IPNMDB_725 comment digenic IPNMDB_203 phenoCommon CMT1X IPNMDB_203 commonName c.410delT IPNMDB_203 alias Ile137fs IPNMDB_315 commonName c.412A>G IPNMDB_315 alias Ser138Gly IPNMDB_617 phenoCommon CMT1X / CMT2 IPNMDB_617 commonName c.413G>A IPNMDB_617 alias Ser138Asn IPNMDB_204 phenoCommon CMT1X IPNMDB_204 commonName c.415G>A IPNMDB_204 alias Val139Met IPNMDB_856 phenoCommon CMT1X IPNMDB_856 commonName c.419T>A IPNMDB_856 alias Val 140Glu IPNMDB_205 phenoCommon CMT1X IPNMDB_205 commonName c.423C>G IPNMDB_205 alias Phe141Leu IPNMDB_206 phenoCommon CMT1X (+ CNS involvement) IPNMDB_206 commonName c.424C>T IPNMDB_206 alias Arg142Trp IPNMDB_207 phenoCommon CMT1X (+ deafness) IPNMDB_207 commonName c.425G>A IPNMDB_207 alias Arg142Gln IPNMDB_857 phenoCommon CMT1X IPNMDB_857 commonName c.428T>C IPNMDB_857 alias Leu143Pro IPNMDB_208 phenoCommon CMT1X IPNMDB_208 commonName c.432_434delGTT IPNMDB_208 alias Leu144del IPNMDB_630 phenoCommon CMT1 IPNMDB_630 commonName c.436G>A IPNMDB_630 alias Glu146Lys IPNMDB_209 phenoCommon CMT1X IPNMDB_209 commonName c.439delG IPNMDB_209 alias Ala147fs IPNMDB_631 phenoCommon CMT1 IPNMDB_631 commonName c.440C>A IPNMDB_631 alias Ala147Asp IPNMDB_316 phenoCommon - (polymorphism) IPNMDB_316 commonName c.441C>T IPNMDB_316 alias Ala147Ala IPNMDB_210 phenoCommon CMT1X IPNMDB_210 commonName c.445T>A IPNMDB_210 alias Phe149Ile IPNMDB_211 phenoCommon CMT1X IPNMDB_211 commonName c.445T>G IPNMDB_211 alias Phe149Val IPNMDB_915 phenoCommon CMT1 IPNMDB_915 commonName c.451T>C IPNMDB_915 alias Tyr151His IPNMDB_351 phenoCommon CMT1/2 IPNMDB_351 commonName c.452A>C IPNMDB_351 alias Tyr151Ser IPNMDB_409 phenoCommon CMT1X IPNMDB_409 commonName c.455T>A IPNMDB_409 alias Val152Asp IPNMDB_582 phenoCommon CMT1X IPNMDB_582 commonName c.458T>C IPNMDB_582 alias Phe153Ser IPNMDB_881 phenoCommon CMT1 IPNMDB_881 commonName c.459_460delTT IPNMDB_881 alias Phe153fs IPNMDB_212 phenoCommon CMT1X IPNMDB_212 commonName c.462T>A IPNMDB_212 alias Tyr154X IPNMDB_858 phenoCommon CMT1X IPNMDB_858 commonName c.466_475delCTCTACCCTG IPNMDB_858 alias Leu156fs IPNMDB_214 phenoCommon CMT1X IPNMDB_214 commonName c.466C>T IPNMDB_214 alias Leu156Phe IPNMDB_213 phenoCommon CMT1X IPNMDB_213 commonName c.467T>G IPNMDB_213 alias Leu156Arg IPNMDB_215 phenoCommon CMT1X IPNMDB_215 commonName c.470A>G IPNMDB_215 alias Tyr157Cys IPNMDB_216 phenoCommon CMT1X IPNMDB_216 commonName c.472C>G IPNMDB_216 alias Pro158Ala IPNMDB_218 phenoCommon CMT1X IPNMDB_218 commonName c.472C>T IPNMDB_218 alias Pro158Ser IPNMDB_217 phenoCommon CMT1X IPNMDB_217 commonName c.473C>G IPNMDB_217 alias Pro158Arg IPNMDB_317 commonName c.473C>T IPNMDB_317 alias Pro158Leu IPNMDB_318 phenoCommon CMT1X IPNMDB_318 commonName c.474delT IPNMDB_318 alias Pro158fs IPNMDB_219 phenoCommon CMT1X IPNMDB_219 commonName c.475G>A IPNMDB_219 alias Gly159Ser IPNMDB_558 phenoCommon unspecified CMT IPNMDB_558 commonName c.476G>A IPNMDB_558 alias Gly159Asp IPNMDB_220 phenoCommon CMT1X IPNMDB_220 commonName c.478T>C IPNMDB_220 alias Tyr160His IPNMDB_221 phenoCommon CMT1X IPNMDB_221 commonName c.481G>C IPNMDB_221 alias Ala161Pro IPNMDB_319 phenoCommon - (polymorphism) IPNMDB_319 commonName c.483C>T IPNMDB_319 alias Ala161Ala IPNMDB_223 phenoCommon CMT1X (+ transient CNS involvement) IPNMDB_223 commonName c.490C>T IPNMDB_223 alias Arg164Trp IPNMDB_222 phenoCommon CMT1X (+ CNS involvement), CMT2 IPNMDB_222 commonName c.491G>A IPNMDB_222 alias Arg164Gln IPNMDB_410 phenoCommon CMT1X IPNMDB_410 commonName c.499A>G IPNMDB_410 alias Lys167Glu IPNMDB_726 phenoCommon CMT1 IPNMDB_726 commonName c.502T>C IPNMDB_726 alias Cys168Arg IPNMDB_320 phenoCommon CMT1X + transient CNS involvement IPNMDB_320 commonName c.503G>A IPNMDB_320 alias Cys168Tyr IPNMDB_321 commonName c.504C>A IPNMDB_321 alias Cys168X IPNMDB_322 phenoCommon - (polymorphism) IPNMDB_322 commonName c.507C>T IPNMDB_322 alias Asp169Asp IPNMDB_618 phenoCommon CMT1X / CMT2 IPNMDB_618 commonName c.514C>G IPNMDB_618 alias Pro172Ala IPNMDB_225 phenoCommon CMT1X IPNMDB_225 commonName c.514C>T IPNMDB_225 alias Pro172Ser IPNMDB_323 phenoCommon CMT1X IPNMDB_323 commonName c.515C>G IPNMDB_323 alias Pro172Arg IPNMDB_224 phenoCommon CMT1X IPNMDB_224 commonName c.515C>T IPNMDB_224 alias Pro172Leu IPNMDB_226 phenoCommon CMT1X IPNMDB_226 commonName c.517T>C IPNMDB_226 alias Cys173Arg IPNMDB_468 commonName c.518G>A IPNMDB_468 alias Cys173Tyr IPNMDB_227 phenoCommon CMT1X IPNMDB_227 commonName c.523A>G IPNMDB_227 alias Asn175Asp IPNMDB_228 phenoCommon CMT1X IPNMDB_228 commonName c.524_525insA IPNMDB_228 alias Asn175fs IPNMDB_469 phenoCommon CMT1X IPNMDB_469 commonName c.526A>C IPNMDB_469 alias Thr176Pro IPNMDB_229 phenoCommon CMT1X IPNMDB_229 commonName c.530T>A IPNMDB_229 alias Val177Glu IPNMDB_230 phenoCommon CMT1X IPNMDB_230 commonName c.530T>C IPNMDB_230 alias Val177Ala IPNMDB_231 phenoCommon CMT1X IPNMDB_231 commonName c.532G>T IPNMDB_231 alias Asp178Tyr IPNMDB_232 phenoCommon CMT1X IPNMDB_232 commonName c.535T>C IPNMDB_232 alias Cys179Arg IPNMDB_882 phenoCommon unspecified CMT IPNMDB_882 commonName c.536G>A IPNMDB_882 alias Cys179Tyr IPNMDB_916 phenoCommon CMT1 IPNMDB_916 commonName c.538T>C IPNMDB_916 alias Phe180Leu IPNMDB_324 phenoCommon CMT1X IPNMDB_324 commonName c.539T>C IPNMDB_324 alias Phe180Ser IPNMDB_233 phenoCommon CMT1X IPNMDB_233 commonName c.540C>G IPNMDB_233 alias Phe180Leu IPNMDB_234 phenoCommon CMT1X IPNMDB_234 commonName c.541G>A IPNMDB_234 alias Val181Met IPNMDB_740 phenoCommon CMT1X IPNMDB_740 commonName c.542T>C IPNMDB_740 alias Val181Ala IPNMDB_235 phenoCommon CMT1X IPNMDB_235 commonName c.544T>A IPNMDB_235 alias Ser182Thr IPNMDB_238 phenoCommon CMT1X IPNMDB_238 commonName c.547C>A IPNMDB_238 alias Arg183Ser IPNMDB_236 phenoCommon CMT1X IPNMDB_236 commonName c.547C>T IPNMDB_236 alias Arg183Cys IPNMDB_237 phenoCommon CMT1X IPNMDB_237 commonName c.548G>A IPNMDB_237 alias Arg183His IPNMDB_239 phenoCommon CMT1X IPNMDB_239 commonName c.551C>G IPNMDB_239 alias Pro184Arg IPNMDB_352 phenoCommon CMT1/2 IPNMDB_352 commonName c.551C>T IPNMDB_352 alias Pro184Leu IPNMDB_240 phenoCommon CMT1X IPNMDB_240 commonName c.553_555delACC IPNMDB_240 alias Thr185del IPNMDB_241 phenoCommon CMT1X (+ deafness) IPNMDB_241 commonName c.556G>A IPNMDB_241 alias Glu186Lys IPNMDB_242 phenoCommon CMT1X IPNMDB_242 commonName c.556G>T IPNMDB_242 alias Glu186X IPNMDB_243 phenoCommon CMT1X IPNMDB_243 commonName c.556_557insG IPNMDB_243 alias Glu186fs IPNMDB_244 phenoCommon CMT1X IPNMDB_244 commonName c.559A>G IPNMDB_244 alias Lys187Glu IPNMDB_845 phenoCommon CMT1X IPNMDB_845 commonName c.561_569insAACCGTCTT IPNMDB_845 alias Val189_Phe190insLeuThrVal IPNMDB_325 phenoCommon CMT1X IPNMDB_325 commonName c.562A>G IPNMDB_325 alias Thr188Ala IPNMDB_246 phenoCommon CMT1X IPNMDB_246 commonName c.565G>A IPNMDB_246 alias Val189Ile IPNMDB_245 phenoCommon CMT1X IPNMDB_245 commonName c.566T>G IPNMDB_245 alias Val189Gly IPNMDB_486 phenoCommon CMT1X IPNMDB_486 commonName c.571A>G IPNMDB_486 alias Thr191Ala IPNMDB_834 phenoCommon CMT1X IPNMDB_834 commonName c.571_579dupACCGTCTTC IPNMDB_834 alias Thr191_Phe193dup IPNMDB_741 phenoCommon CMT1X IPNMDB_741 commonName c.572_580delCCGTCTTCA IPNMDB_741 alias Thr191_Phe193del IPNMDB_326 phenoCommon CMT1X IPNMDB_326 commonName c.574G>T IPNMDB_326 alias Val192Phe IPNMDB_249 phenoCommon CMT1X IPNMDB_249 commonName c.578T>G IPNMDB_249 alias Phe193Cys IPNMDB_347 phenoCommon CMT1 IPNMDB_347 commonName c.579C>G IPNMDB_347 alias Phe193Leu IPNMDB_250 phenoCommon CMT1X IPNMDB_250 commonName c.580A>G IPNMDB_250 alias Met194Val IPNMDB_251 phenoCommon CMT1X IPNMDB_251 commonName c.593C>T IPNMDB_251 alias Ser198Phe IPNMDB_727 phenoCommon - (polymorphism) IPNMDB_727 commonName c.594T>A IPNMDB_727 alias Ser198Ser IPNMDB_252 phenoCommon CMT1X IPNMDB_252 commonName c.595G>C IPNMDB_252 alias Gly199Arg IPNMDB_253 phenoCommon CMT1X IPNMDB_253 commonName c.601T>C IPNMDB_253 alias Cys201Arg IPNMDB_686 phenoCommon CMT1/2 IPNMDB_686 commonName c.602G>A IPNMDB_686 alias Cys201Tyr IPNMDB_883 phenoCommon CMT1 IPNMDB_883 commonName c.602G>T IPNMDB_883 alias Cys201Phe IPNMDB_254 phenoCommon CMT1X IPNMDB_254 commonName c.608T>A IPNMDB_254 alias Ile203Asn IPNMDB_255 phenoCommon CMT1X IPNMDB_255 commonName c.610C>G IPNMDB_255 alias Leu204Val IPNMDB_256 phenoCommon CMT1X IPNMDB_256 commonName c.610C>T IPNMDB_256 alias Leu204Phe IPNMDB_257 phenoCommon CMT1X (+ CNS involvement) IPNMDB_257 commonName c.614A>G IPNMDB_257 alias Asn205Ser IPNMDB_327 phenoCommon CMT2 + deafness IPNMDB_327 commonName c.614A>T IPNMDB_327 alias Asn205Ile IPNMDB_328 phenoCommon CMT1X IPNMDB_328 commonName c.617_618insT IPNMDB_328 alias Val206fs IPNMDB_258 phenoCommon CMT1X IPNMDB_258 commonName c.622G>A IPNMDB_258 alias Glu208Lys IPNMDB_533 phenoCommon CMT1X IPNMDB_533 commonName c.623A>G IPNMDB_533 alias Glu208Gly IPNMDB_632 phenoCommon CMT1 IPNMDB_632 commonName c.628_630delGTG IPNMDB_632 alias Val210del IPNMDB_507 phenoCommon CMT1 IPNMDB_507 commonName c.631T>C IPNMDB_507 alias Tyr211His IPNMDB_259 phenoCommon CMT1X IPNMDB_259 commonName c.633C>A IPNMDB_259 alias Tyr211X IPNMDB_884 phenoCommon CMT1 IPNMDB_884 commonName c.633delC IPNMDB_884 alias Leu212fs IPNMDB_680 phenoCommon CMT IPNMDB_680 commonName c.634C>T IPNMDB_680 alias Leu212Phe IPNMDB_260 phenoCommon CMT1X IPNMDB_260 commonName c.637_640delATCAinsC IPNMDB_260 alias Ile213_Ile214delinsLeu IPNMDB_329 commonName c.637A>G IPNMDB_329 alias Ile213Val IPNMDB_879 phenoCommon CMT1/2 IPNMDB_879 commonName c.641T>A IPNMDB_879 alias Ile214Asn IPNMDB_261 phenoCommon CMT1X IPNMDB_261 commonName c.643C>T IPNMDB_261 alias Arg215Trp IPNMDB_262 phenoCommon CMT1X IPNMDB_262 commonName c.651T>A IPNMDB_262 alias Cys217X IPNMDB_263 phenoCommon CMT1X IPNMDB_263 commonName c.655C>T IPNMDB_263 alias Arg219Cys IPNMDB_264 phenoCommon CMT1X IPNMDB_264 commonName c.656G>A IPNMDB_264 alias Arg219His IPNMDB_265 phenoCommon CMT1X IPNMDB_265 commonName c.658C>G IPNMDB_265 alias Arg220Gly IPNMDB_266 phenoCommon CMT1X IPNMDB_266 commonName c.658C>T IPNMDB_266 alias Arg220X IPNMDB_267 phenoCommon CMT1X IPNMDB_267 commonName c.688C>T IPNMDB_267 alias Arg230Cys RISN_LRAT:c.505A>T commonName Ser 175 Arg RISN_LRAT:c.505A>T phenoCommon Early-onset severe retinal dystrophy RISN_LRAT:c.505A>T protEffect p.Ser175Arg RISN_LRAT:c.332A>G commonName Glu 114 Glu RISN_LRAT:c.332A>G protEffect p.Glu114Glu RISN_XLRS:c.(?_1)_(184_?)del commonName Del Exon 1 - 3 RISN_XLRS:c.(?_1)_(184_?)del phenoCommon RS RISN_XLRS:c.(?_1)_(52_?)del commonName Exon 1 del RISN_XLRS:c.(?_1)_(52_?)del phenoCommon RS RISN_XLRS:c.1A>G commonName Met 1 Val RISN_XLRS:c.1A>G phenoCommon RS RISN_XLRS:c.1A>G protEffect p.Met1Val IPNMDB_268 phenoCommon CMT1X IPNMDB_268 commonName c.689G>T IPNMDB_268 alias Arg230Leu IPNMDB_269 phenoCommon CMT1X (severe) IPNMDB_269 commonName c.704T>G IPNMDB_269 alias Phe235Cys IPNMDB_270 phenoCommon CMT1X IPNMDB_270 commonName c.713G>A IPNMDB_270 alias Arg238His IPNMDB_330 phenoCommon CMT1X IPNMDB_330 commonName c.715C>A IPNMDB_330 alias Leu239Ile IPNMDB_271 phenoCommon CMT1X IPNMDB_271 commonName c.761_762insA IPNMDB_271 alias Glu254fs IPNMDB_633 phenoCommon CMT2 IPNMDB_633 commonName c.790C>T IPNMDB_633 alias Arg264Cys IPNMDB_272 phenoCommon CMT1X IPNMDB_272 commonName c.793_821del29 IPNMDB_272 alias Arg265fs IPNMDB_423 phenoCommon CMT1X RISN_XLRS:c.2T>C commonName Met 1 Thr RISN_XLRS:c.2T>C phenoCommon RS RISN_XLRS:c.2T>C protEffect p.Met1Thr RISN_XLRS:c.52+2T>C commonName IVS1+2t>c RISN_XLRS:c.52+2T>C phenoCommon RS RISN_XLRS:c.33_36delACTT commonName 33delACTT RISN_XLRS:c.33_36delACTT phenoCommon RS RISN_XLRS:c.35T>A commonName Leu 12 His RISN_XLRS:c.35T>A phenoCommon RS RISN_XLRS:c.35T>A protEffect p.Leu12His RISN_XLRS:c.38T>C commonName Leu 13 Pro RISN_XLRS:c.38T>C phenoCommon RS RISN_XLRS:c.38T>C protEffect p.Leu13Pro RISN_XLRS:c.52+1G>A commonName IVS1+1g>a RISN_XLRS:c.52+1G>A phenoCommon RS RISN_XLRS:c.52+1_52+2insT commonName IVS1+2ins t RISN_XLRS:c.52+1_52+2insT phenoCommon RS RISN_XLRS:c.52+5G>C commonName IVS1+5g>c RISN_XLRS:c.52+5G>C phenoCommon RS RISN_XLRS:c.52+1G>T commonName IVS1+1g>t RISN_XLRS:c.52+1G>T phenoCommon RS RISN_XLRS:c.53_77del commonName 53del25bp RISN_XLRS:c.53_77del phenoCommon RS RISN_XLRS:c.(?_53)_(78_?)del commonName Exon 2 del RISN_XLRS:c.(?_53)_(78_?)del phenoCommon RS RISN_XLRS:c.68C>A commonName Ser 23 ter RISN_XLRS:c.68C>A phenoCommon RS RISN_XLRS:c.68C>A protEffect p.Ser23X RISN_XLRS:c.76G>T commonName Glu 26 ter RISN_XLRS:c.76G>T phenoCommon RS RISN_XLRS:c.76G>T protEffect p.Glu26X RISN_XLRS:c.79-2A>G commonName IVS2-2a>g RISN_XLRS:c.79-2A>G phenoCommon RS RISN_XLRS:c.78+1G>A commonName IVS2+1g>a RISN_XLRS:c.78+1G>A phenoCommon RS RISN_XLRS:c.79_183del commonName 79del105del RISN_XLRS:c.79_183del phenoCommon RS RISN_XLRS:c.120C>A commonName Cys 40 ter RISN_XLRS:c.120C>A phenoCommon RS RISN_XLRS:c.120C>A protEffect p.Cys40X RISN_XLRS:c.163delA commonName 163delA RISN_XLRS:c.163delA phenoCommon RS RISN_XLRS:c.163_164insGCCA commonName 164insGCCA RISN_XLRS:c.163_164insGCCA phenoCommon RS RISN_XLRS:c.173_205del commonName 173del33bp RISN_XLRS:c.173_205del phenoCommon RS RISN_XLRS:c.175T>A commonName Cys 59 Ser RISN_XLRS:c.175T>A phenoCommon RS RISN_XLRS:c.175T>A protEffect p.Cys59Ser RISN_XLRS:c.181_194del commonName 181del14bp RISN_XLRS:c.181_194del phenoCommon RS RISN_XLRS:c.184+1G>C commonName IVS3+1g>c RISN_XLRS:c.184+1G>C phenoCommon RS RISN_XLRS:c.185-1G>C commonName IVS3-1g>c RISN_XLRS:c.185-1G>C phenoCommon RS RISN_XLRS:c.185_325del commonName 185del141bp RISN_XLRS:c.185_325del phenoCommon RS RISN_XLRS:c.185-34_623del commonName IVS3-34 del 473bp RISN_XLRS:c.185-34_623del phenoCommon RS RISN_XLRS:c.194A>G commonName Tyr 65 Cys RISN_XLRS:c.194A>G phenoCommon RS RISN_XLRS:c.194A>G protEffect p.Tyr65Cys RISN_XLRS:c.194delA commonName 194delA RISN_XLRS:c.194delA phenoCommon RS RISN_XLRS:c.208G>C commonName Gly 70 Ala RISN_XLRS:c.208G>C phenoCommon RS RISN_XLRS:c.208G>C protEffect p.Gly70Ala RISN_XLRS:c.209G>A commonName Gly 70 Ser RISN_XLRS:c.209G>A phenoCommon RS RISN_XLRS:c.209G>A protEffect p.Gly70Ser RISN_XLRS:c.214G>A commonName Glu 72 Lys RISN_XLRS:c.214G>A phenoCommon RS RISN_XLRS:c.214G>A protEffect p.Glu72Lys RISN_XLRS:c.214G>C commonName Glu 72 Gln RISN_XLRS:c.214G>C phenoCommon RS RISN_XLRS:c.214G>C protEffect p.Glu72Gln RISN_XLRS:c.216G>C commonName Glu 72 Asp RISN_XLRS:c.216G>C phenoCommon RS RISN_XLRS:c.216G>C protEffect p.Glu72Asp RISN_XLRS:c.217T>C commonName Ser 73 Pro RISN_XLRS:c.217T>C phenoCommon RS RISN_XLRS:c.217T>C protEffect p.Ser73Pro RISN_XLRS:c.219delA commonName 219delA RISN_XLRS:c.219delA phenoCommon RS RISN_XLRS:c.221G>T commonName Gly 74 Val RISN_XLRS:c.221G>T phenoCommon RS RISN_XLRS:c.221G>T protEffect p.Gly74Val RISN_XLRS:c.221_237delins20 commonName 221del17bp ins20bp RISN_XLRS:c.221_237delins20 phenoCommon RS RISN_XLRS:c.223G>T commonName Glu 75 ter RISN_XLRS:c.223G>T phenoCommon RS RISN_XLRS:c.223G>T protEffect p.Glu75X RISN_XLRS:c.242T>A commonName Ile 81 Asp RISN_XLRS:c.242T>A phenoCommon RS RISN_XLRS:c.242T>A protEffect p.Ile81Asp RISN_XLRS:c.253_255delAAC commonName 253delAAC RISN_XLRS:c.253_255delAAC phenoCommon RS RISN_XLRS:c.262C>T commonName Gln 88 ter RISN_XLRS:c.262C>T phenoCommon RS RISN_XLRS:c.262C>T protEffect p.Gln88X RISN_XLRS:c.266A>G commonName Tyr 89 Cys RISN_XLRS:c.266A>G phenoCommon RS RISN_XLRS:c.266A>G protEffect p.Tyr89Cys RISN_XLRS:c.267T>A commonName Tyr 89 ter RISN_XLRS:c.267T>A phenoCommon RS RISN_XLRS:c.267T>A protEffect p.Tyr89X RISN_XLRS:c.276G>C commonName Trp 92 Cys RISN_XLRS:c.276G>C phenoCommon RS RISN_XLRS:c.276G>C protEffect p.Trp92Cys RISN_XLRS:c.286T>C commonName Trp 96 Arg RISN_XLRS:c.286T>C phenoCommon RS RISN_XLRS:c.286T>C protEffect p.Trp96Arg RISN_XLRS:c.288G>A commonName Trp 96 ter RISN_XLRS:c.288G>A phenoCommon RS RISN_XLRS:c.288G>A protEffect p.Trp96X RISN_XLRS:c.293C>A commonName Ala 98 Glu RISN_XLRS:c.293C>A phenoCommon RS RISN_XLRS:c.293C>A protEffect p.Ala98Glu RISN_XLRS:c.301G>C commonName Ala 101 Pro RISN_XLRS:c.301G>C phenoCommon RS RISN_XLRS:c.301G>C protEffect p.Ala101Pro RISN_XLRS:c.301delG commonName 301delG RISN_XLRS:c.301delG phenoCommon RS RISN_XLRS:c.304C>T commonName Arg 102 Trp RISN_XLRS:c.304C>T phenoCommon RS RISN_XLRS:c.304C>T protEffect p.Arg102Trp RISN_XLRS:c.305G>A commonName Arg 102 Gln RISN_XLRS:c.305G>A phenoCommon RS RISN_XLRS:c.305G>A protEffect p.Arg102Gln RISN_XLRS:c.308T>G commonName Leu 103 Arg RISN_XLRS:c.308T>G phenoCommon RS RISN_XLRS:c.308T>G protEffect p.Leu103Arg RISN_XLRS:c.312C>G commonName Asn 104 Lys RISN_XLRS:c.312C>G phenoCommon RS RISN_XLRS:c.312C>G protEffect p.Asn104Lys RISN_XLRS:c.317dupA commonName 317insA RISN_XLRS:c.317dupA phenoCommon RS RISN_XLRS:c.323T>G commonName Phe 108 Cys RISN_XLRS:c.323T>G phenoCommon RS RISN_XLRS:c.323T>G protEffect p.Phe108Cys RISN_XLRS:c.325G>T commonName Gly 109 Trp RISN_XLRS:c.325G>T phenoCommon RS RISN_XLRS:c.325G>T protEffect p.Gly109Trp RISN_XLRS:c.325G>C commonName Gly 109 Arg RISN_XLRS:c.325G>C phenoCommon RS RISN_XLRS:c.325G>C protEffect p.Gly109Arg RISN_XLRS:c.326G>A commonName Gly 109 Glu RISN_XLRS:c.326G>A phenoCommon RS RISN_XLRS:c.326G>A protEffect p.Gly109Glu RISN_XLRS:c.326+1G>A commonName IVS4+1g>a RISN_XLRS:c.326+1G>A phenoCommon RS RISN_XLRS:c.329G>A commonName Cys 110 Tyr RISN_XLRS:c.329G>A phenoCommon RS RISN_XLRS:c.329G>A protEffect p.Cys110Tyr RISN_XLRS:c.330T>C commonName Cys 110 Cys RISN_XLRS:c.330T>C protEffect p.Cys110Cys RISN_XLRS:c.330T>A commonName Cys 110 ter RISN_XLRS:c.330T>A phenoCommon RS RISN_XLRS:c.330T>A protEffect p.Cys110X RISN_XLRS:c.336G>C commonName Trp 112 Cys RISN_XLRS:c.336G>C phenoCommon RS RISN_XLRS:c.336G>C protEffect p.Trp112Cys RISN_XLRS:c.336G>T commonName Trp 112 Cys RISN_XLRS:c.336G>T phenoCommon RS RISN_XLRS:c.336G>T protEffect p.Trp112Cys RISN_XLRS:c.337C>T commonName Leu 113 Phe RISN_XLRS:c.337C>T phenoCommon RS RISN_XLRS:c.337C>T protEffect p.Leu113Phe RISN_XLRS:c.349_350insT commonName 350insT RISN_XLRS:c.349_350insT phenoCommon RS RISN_XLRS:c.366G>C commonName Trp 122 Cys RISN_XLRS:c.366G>C phenoCommon RS RISN_XLRS:c.366G>C protEffect p.Trp122Cys RISN_XLRS:c.375_378delAGAT commonName 375delAGAT RISN_XLRS:c.375_378delAGAT phenoCommon RS RISN_XLRS:c.380T>C commonName Leu 127 Pro RISN_XLRS:c.380T>C phenoCommon RS RISN_XLRS:c.380T>C protEffect p.Leu127Pro RISN_XLRS:c.392_393delAA commonName 392delAA RISN_XLRS:c.392_393delAA phenoCommon RS RISN_XLRS:c.397A>T commonName Ile 133 Phe RISN_XLRS:c.397A>T phenoCommon RS RISN_XLRS:c.397A>T protEffect p.Ile133Phe RISN_XLRS:c.404G>T commonName Gly 135 Val RISN_XLRS:c.404G>T phenoCommon RS RISN_XLRS:c.404G>T protEffect p.Gly135Val RISN_XLRS:c.407T>C commonName Ile 136 Thr RISN_XLRS:c.407T>C phenoCommon RS RISN_XLRS:c.407T>C protEffect p.Ile136Thr RISN_XLRS:c.412A>G commonName Thr 138 Ala RISN_XLRS:c.412A>G phenoCommon RS RISN_XLRS:c.412A>G protEffect p.Thr138Ala RISN_XLRS:c.416delA commonName 416delA RISN_XLRS:c.416delA phenoCommon RS RISN_XLRS:c.418G>A commonName Gly 140 Arg RISN_XLRS:c.418G>A phenoCommon RS RISN_XLRS:c.418G>A protEffect p.Gly140Arg RISN_XLRS:c.419G>A commonName Gly 140 Glu RISN_XLRS:c.419G>A phenoCommon RS RISN_XLRS:c.419G>A protEffect p.Gly140Glu RISN_XLRS:c.421C>T commonName Arg 141 Cys RISN_XLRS:c.421C>T phenoCommon RS RISN_XLRS:c.421C>T protEffect p.Arg141Cys RISN_XLRS:c.421C>G commonName Arg 141 Gly RISN_XLRS:c.421C>G phenoCommon RS RISN_XLRS:c.421C>G protEffect p.Arg141Gly RISN_XLRS:c.422G>A commonName Arg 141 His RISN_XLRS:c.422G>A phenoCommon RS RISN_XLRS:c.422G>A protEffect p.Arg141His RISN_XLRS:c.426T>C commonName Cys 142 Cys RISN_XLRS:c.426T>C protEffect p.Cys142Cys RISN_XLRS:c.426_427delTG commonName 426delTG RISN_XLRS:c.426_427delTG phenoCommon RS RISN_XLRS:c.426T>G commonName Cys 142 Trp RISN_XLRS:c.426T>G phenoCommon RS RISN_XLRS:c.426T>G protEffect p.Cys142Trp RISN_XLRS:c.428A>T commonName Asp 143 Val RISN_XLRS:c.428A>T phenoCommon RS RISN_XLRS:c.428A>T protEffect p.Asp143Val RISN_XLRS:c.436G>A commonName Glu 146 Lys RISN_XLRS:c.436G>A phenoCommon RS RISN_XLRS:c.436G>A protEffect p.Glu146Lys RISN_XLRS:c.438G>C commonName Glu 146 Asp RISN_XLRS:c.438G>C phenoCommon RS RISN_XLRS:c.438G>C protEffect p.Glu146Asp RISN_XLRS:c.460C>T commonName Gln 154 ter RISN_XLRS:c.460C>T phenoCommon RS RISN_XLRS:c.460C>T protEffect p.Gln154X RISN_XLRS:c.464A>G commonName Tyr 155 Cys RISN_XLRS:c.464A>G phenoCommon RS RISN_XLRS:c.464A>G protEffect p.Tyr155Cys RISN_XLRS:c.472G>A commonName Asp 158 Asn RISN_XLRS:c.472G>A protEffect p.Asp158Asn RISN_XLRS:c.489G>A commonName Trp 163 ter RISN_XLRS:c.489G>A phenoCommon RS RISN_XLRS:c.489G>A protEffect p.Trp163X RISN_XLRS:c.489G>T commonName Trp 163 Cys RISN_XLRS:c.489G>T phenoCommon RS RISN_XLRS:c.489G>T protEffect p.Trp163Cys RISN_XLRS:c.499A>T commonName Lys 167 ter RISN_XLRS:c.499A>T phenoCommon RS RISN_XLRS:c.499A>T protEffect p.Lys167X RISN_XLRS:c.501G>C commonName Lys 167 Asn RISN_XLRS:c.501G>C phenoCommon RS RISN_XLRS:c.501G>C protEffect p.Lys167Asn RISN_XLRS:c.522+5G>A commonName IVS5+5g>a RISN_XLRS:c.522+5G>A phenoCommon RS RISN_XLRS:c.522+1G>T commonName IVS5+1g>t RISN_XLRS:c.522+1G>T phenoCommon RS RISN_XLRS:c.522+1G>A commonName IVS5+1g>a RISN_XLRS:c.522+1G>A phenoCommon RS RISN_XLRS:c.523-2A>G commonName IVS5-2a>g RISN_XLRS:c.523-2A>G phenoCommon RS RISN_XLRS:c.533G>A commonName Gly 178 Asp RISN_XLRS:c.533G>A phenoCommon RS RISN_XLRS:c.533G>A protEffect p.Gly178Asp RISN_XLRS:c.535A>G commonName Asn 179 Asp RISN_XLRS:c.535A>G phenoCommon RS RISN_XLRS:c.535A>G protEffect p.Asn179Asp RISN_XLRS:c.544C>T commonName Arg 182 Cys RISN_XLRS:c.544C>T phenoCommon RS RISN_XLRS:c.544C>T protEffect p.Arg182Cys RISN_XLRS:c.548_549insCC commonName 549insCC RISN_XLRS:c.548_549insCC phenoCommon RS RISN_XLRS:c.554C>T commonName Thr 185 Lys RISN_XLRS:c.554C>T phenoCommon RS RISN_XLRS:c.554C>T protEffect p.Thr185Lys RISN_XLRS:c.574C>T commonName Pro 192 Ser RISN_XLRS:c.574C>T phenoCommon RS RISN_XLRS:c.574C>T protEffect p.Pro192Ser RISN_XLRS:c.574C>A commonName Pro 192 Thr RISN_XLRS:c.574C>A phenoCommon RS RISN_XLRS:c.574C>A protEffect p.Pro192Thr RISN_XLRS:c.575C>G commonName Pro 192 Arg RISN_XLRS:c.575C>G phenoCommon RS RISN_XLRS:c.575C>G protEffect p.Pro192Arg RISN_XLRS:c.576_577insT commonName 577insT RISN_XLRS:c.576_577insT phenoCommon RS RISN_XLRS:c.577C>T commonName Pro 193 Ser RISN_XLRS:c.577C>T phenoCommon RS RISN_XLRS:c.577C>T protEffect p.Pro193Ser RISN_XLRS:c.578C>T commonName Pro 193 Leu RISN_XLRS:c.578C>T phenoCommon RS RISN_XLRS:c.578C>T protEffect p.Pro193Leu RISN_XLRS:c.579dupC commonName 579insC RISN_XLRS:c.579dupC phenoCommon RS RISN_XLRS:c.589C>T commonName Arg 197 Cys RISN_XLRS:c.589C>T phenoCommon RS RISN_XLRS:c.589C>T protEffect p.Arg197Cys RISN_XLRS:c.590G>C commonName Arg 197 Pro RISN_XLRS:c.590G>C phenoCommon RS RISN_XLRS:c.590G>C protEffect p.Arg197Pro RISN_XLRS:c.590G>A commonName Arg 197 His RISN_XLRS:c.590G>A phenoCommon RS RISN_XLRS:c.590G>A protEffect p.Arg197His RISN_XLRS:c.596T>C commonName Ile 199 Thr RISN_XLRS:c.596T>C phenoCommon RS RISN_XLRS:c.596T>C protEffect p.Ile199Thr RISN_XLRS:c.598C>T commonName Arg 200 Cys RISN_XLRS:c.598C>T phenoCommon RS RISN_XLRS:c.598C>T protEffect p.Arg200Cys RISN_XLRS:c.599G>A commonName Arg 200 His RISN_XLRS:c.599G>A phenoCommon RS RISN_XLRS:c.599G>A protEffect p.Arg200His RISN_XLRS:c.606C>T commonName Ile 202 Ile RISN_XLRS:c.606C>T protEffect p.Ile202Ile RISN_XLRS:c.608C>T commonName Pro 203 Leu RISN_XLRS:c.608C>T phenoCommon RS RISN_XLRS:c.608C>T protEffect p.Pro203Leu RISN_XLRS:c.618G>A commonName Trp 206 ter RISN_XLRS:c.618G>A phenoCommon RS RISN_XLRS:c.618G>A protEffect p.Trp206X RISN_XLRS:c.621C>G commonName His 207 Gln RISN_XLRS:c.621C>G phenoCommon RS RISN_XLRS:c.621C>G protEffect p.His207Gln RISN_XLRS:c.625C>T commonName Arg 209 Cys RISN_XLRS:c.625C>T phenoCommon RS RISN_XLRS:c.625C>T protEffect p.Arg209Cys RISN_XLRS:c.625C>G commonName Pro 209 Gly RISN_XLRS:c.625C>G phenoCommon RS RISN_XLRS:c.625C>G protEffect p.Pro209Gly RISN_XLRS:c.626G>A commonName Arg 209 His RISN_XLRS:c.626G>A phenoCommon RS RISN_XLRS:c.626G>A protEffect p.Arg209His RISN_XLRS:c.631G>A commonName Ala 211 Thr RISN_XLRS:c.631G>A phenoCommon RS RISN_XLRS:c.631G>A protEffect p.Ala211Thr RISN_XLRS:c.638G>A commonName Arg 213 Gln RISN_XLRS:c.638G>A phenoCommon RS RISN_XLRS:c.638G>A protEffect p.Arg213Gln RISN_XLRS:c.637C>T commonName Arg 213 Trp RISN_XLRS:c.637C>T phenoCommon RS RISN_XLRS:c.637C>T protEffect p.Arg213Trp RISN_XLRS:c.639delG commonName 639delG RISN_XLRS:c.639delG phenoCommon RS RISN_XLRS:c.643G>A commonName Glu 215 Lys RISN_XLRS:c.643G>A phenoCommon RS RISN_XLRS:c.643G>A protEffect p.Glu215Lys RISN_XLRS:c.643G>C commonName Glu 215 Gln RISN_XLRS:c.643G>C phenoCommon RS RISN_XLRS:c.643G>C protEffect p.Glu215Gln RISN_XLRS:c.647T>C commonName Leu 216 Pro RISN_XLRS:c.647T>C phenoCommon RS RISN_XLRS:c.647T>C protEffect p.Leu216Pro RISN_XLRS:c.655T>C commonName Cys 219 Arg RISN_XLRS:c.655T>C phenoCommon RS RISN_XLRS:c.655T>C protEffect p.Cys219Arg RISN_XLRS:c.655T>G commonName Cys 219 Gly RISN_XLRS:c.655T>G phenoCommon RS RISN_XLRS:c.655T>G protEffect p.Cys219Gly RISN_XLRS:c.655delT commonName 655delT RISN_XLRS:c.655delT phenoCommon RS RISN_XLRS:c.655_679del commonName 655del25bp RISN_XLRS:c.655_679del phenoCommon RS RISN_XLRS:c.666G>C commonName Lys 222 Asn RISN_XLRS:c.666G>C protEffect p.Lys222Asn RISN_XLRS:c.675*3C>T commonName 678c/t RISN_TYR:c.(?_1)_(819_?)del commonName Deletion Exon1 RISN_TYR:c.(?_1)_(819_?)del phenoCommon OCA1A RISN_TYR:c.1A>G commonName Met 1 Val RISN_TYR:c.1A>G phenoCommon AROA RISN_TYR:c.1A>G protEffect p.Met1Val RISN_TYR:c.2T>C commonName Met 1 Thr RISN_TYR:c.2T>C phenoCommon OCA1A RISN_TYR:c.2T>C protEffect p.Met1Thr RISN_TYR:c.24delC commonName 24delC RISN_TYR:c.24delC phenoCommon OCA1B RISN_TYR:c.52delG commonName 52delG RISN_TYR:c.52delG phenoCommon OCA1A RISN_TYR:c.57T>A commonName His 19 Gln RISN_TYR:c.57T>A phenoCommon OCA1A RISN_TYR:c.57T>A protEffect p.His19Gln RISN_TYR:c.61C>T commonName Pro 21 Ser RISN_TYR:c.61C>T phenoCommon OCA1A RISN_TYR:c.61C>T protEffect p.Pro21Ser RISN_TYR:c.107G>A commonName Cys 36 Tyr RISN_TYR:c.107G>A phenoCommon OCA1 RISN_TYR:c.107G>A protEffect p.Cys36Tyr RISN_TYR:c.125A>G commonName Asp 42 Gly RISN_TYR:c.125A>G phenoCommon OCA1A RISN_TYR:c.125A>G protEffect p.Asp42Gly RISN_TYR:c.140G>A commonName Gly 47 Asp RISN_TYR:c.140G>A phenoCommon OCA1A RISN_TYR:c.140G>A protEffect p.Gly47Asp RISN_TYR:c.149C>G commonName Ser 50 ter RISN_TYR:c.149C>G phenoCommon OCA1A RISN_TYR:c.149C>G protEffect p.Ser50X RISN_TYR:c.155G>T commonName Arg 52 Ile RISN_TYR:c.155G>T phenoCommon OCA1A RISN_TYR:c.155G>T protEffect p.Arg52Ile RISN_TYR:c.164G>A commonName Cys 55 Tyr RISN_TYR:c.164G>A phenoCommon AROA RISN_TYR:c.164G>A protEffect p.Cys55Tyr RISN_TYR:c.222delG commonName 223delG RISN_TYR:c.222delG phenoCommon OCA1B RISN_TYR:c.229C>T commonName Arg 77 Trp RISN_TYR:c.229C>T phenoCommon OCA2 RISN_TYR:c.229C>T protEffect p.Arg77Trp RISN_TYR:c.230G>A commonName Arg 77 Gln RISN_TYR:c.230G>A phenoCommon OCA2 RISN_TYR:c.230G>A protEffect p.Arg77Gln RISN_TYR:c.232G>T commonName Glu 78 ter RISN_TYR:c.232G>T phenoCommon OCA1B RISN_TYR:c.232G>T protEffect p.Glu78X RISN_TYR:c.231_232insGGG commonName 232insGGG RISN_TYR:c.231_232insGGG phenoCommon OCA1 RISN_TYR:c.238T>C commonName Trp 80 Arg RISN_TYR:c.238T>C phenoCommon OCA1A RISN_TYR:c.238T>C protEffect p.Trp80Arg RISN_TYR:c.240G>A commonName Trp 80 ter RISN_TYR:c.240G>A phenoCommon OCA1A RISN_TYR:c.240G>A protEffect p.Trp80X RISN_TYR:c.242C>T commonName Pro 81 Leu RISN_TYR:c.242C>T phenoCommon OCA1A RISN_TYR:c.242C>T protEffect p.Pro81Leu RISN_TYR:c.265T>C commonName Cys 89 Arg RISN_TYR:c.265T>C phenoCommon OCA1 RISN_TYR:c.265T>C protEffect p.Cys89Arg RISN_TYR:c.286dupA commonName 286insA RISN_TYR:c.286dupA phenoCommon OCA1A RISN_TYR:c.289G>A commonName Gly 97 Arg RISN_TYR:c.289G>A phenoCommon OCA1A RISN_TYR:c.289G>A protEffect p.Gly97Arg RISN_TYR:c.325G>A commonName Gly 109 Arg RISN_TYR:c.325G>A phenoCommon OCA RISN_TYR:c.325G>A protEffect p.Gly109Arg RISN_TYR:c.336_337delCA commonName 336delCA RISN_TYR:c.336_337delCA phenoCommon OCA RISN_TYR:c.340_341delGA commonName 340delGA RISN_TYR:c.340_341delGA phenoCommon OCA1A RISN_TYR:c.346C>T commonName Arg 116 ter RISN_TYR:c.346C>T phenoCommon OCA1A RISN_TYR:c.346C>T protEffect p.Arg116X RISN_TYR:c.456C>T commonName Pro 152 Ser RISN_TYR:c.456C>T phenoCommon OCA1 RISN_TYR:c.456C>T protEffect p.Pro152Ser RISN_TYR:c.458_459insT commonName 459insT RISN_TYR:c.458_459insT phenoCommon OCA1 RISN_TYR:c.526T>A commonName Phe 176 Ile RISN_TYR:c.526T>A phenoCommon OCA1 RISN_TYR:c.526T>A protEffect p.Phe176Ile RISN_TYR:c.533G>A commonName Trp 178 ter RISN_TYR:c.533G>A phenoCommon OCA1 RISN_TYR:c.533G>A protEffect p.Trp178X RISN_TYR:c.568delG commonName 571delG RISN_TYR:c.568delG phenoCommon OCA1A RISN_TYR:c.575C>A commonName Ser 192 Tyr RISN_TYR:c.575C>A protEffect p.Ser192Tyr RISN_TYR:c.613C>A commonName Pro 205 Thr RISN_TYR:c.613C>A phenoCommon OCA RISN_TYR:c.613C>A protEffect p.Pro205Thr RISN_TYR:c.616G>A commonName Ala 206 Thr RISN_TYR:c.616G>A phenoCommon OCA1 RISN_TYR:c.616G>A protEffect p.Ala206Thr RISN_TYR:c.646T>A commonName Leu 216 Met RISN_TYR:c.646T>A phenoCommon OCA1 RISN_TYR:c.646T>A protEffect p.Leu216Met RISN_TYR:c.649delC commonName 649delC RISN_TYR:c.649delC phenoCommon OCA RISN_TYR:c.649C>G commonName Arg 217 Gly RISN_TYR:c.649C>G phenoCommon OCA1A RISN_TYR:c.649C>G protEffect p.Arg217Gly RISN_TYR:c.649C>T commonName Arg 217 Trp RISN_TYR:c.649C>T phenoCommon OCA2 RISN_TYR:c.649C>T protEffect p.Arg217Trp RISN_TYR:c.650G>A commonName Arg 217 Gln RISN_TYR:c.650G>A phenoCommon OCA1 RISN_TYR:c.650G>A protEffect p.Arg217Gln RISN_TYR:c.678_680delAGG commonName 678delAGG RISN_TYR:c.678_680delAGG phenoCommon OCA RISN_TYR:c.707G>A commonName Trp 236 ter RISN_TYR:c.707G>A phenoCommon OCA1 RISN_TYR:c.707G>A protEffect p.Trp236X RISN_TYR:c.707G>C commonName Trp 236 Ser RISN_TYR:c.707G>C phenoCommon OCA1 RISN_TYR:c.707G>C protEffect p.Trp236Ser RISN_TYR:c.730_731delTG commonName 730delTG RISN_TYR:c.730_731delTG phenoCommon OCA1A RISN_TYR:c.757G>A commonName Gly 253 Arg RISN_TYR:c.757G>A phenoCommon OCA1A RISN_TYR:c.757G>A protEffect p.Gly253Arg RISN_TYR:c.766C>T commonName His 256 Tyr RISN_TYR:c.766C>T phenoCommon OCA RISN_TYR:c.766C>T protEffect p.His256Tyr RISN_TYR:c.816G>C commonName Trp 272 Cys RISN_TYR:c.816G>C phenoCommon OCA1 RISN_TYR:c.816G>C protEffect p.Trp272Cys RISN_TYR:c.820-3C>G commonName IVS1-3c-g RISN_TYR:c.820-3C>G phenoCommon OCA1 RISN_TYR:c.823G>T commonName Val 275 Phe RISN_TYR:c.823G>T phenoCommon OCA1 RISN_TYR:c.823G>T protEffect p.Val275Phe RISN_TYR:c.832C>T commonName Arg 278 ter RISN_TYR:c.832C>T phenoCommon OCA1 RISN_TYR:c.832C>T protEffect p.Arg278X RISN_TYR:c.840delG commonName 840delG RISN_TYR:c.840delG phenoCommon OCA1 RISN_TYR:c.875C>T commonName Cys 289 Arg RISN_TYR:c.875C>T phenoCommon OCA1A RISN_TYR:c.875C>T protEffect p.Cys289Arg RISN_TYR:c.891A>G commonName Glu 294 Gly RISN_TYR:c.891A>G phenoCommon OCA1 RISN_TYR:c.891A>G protEffect p.Glu294Gly RISN_TYR:c.895C>A commonName Arg 299 Ser RISN_TYR:c.895C>A phenoCommon OCA1 RISN_TYR:c.895C>A protEffect p.Arg299Ser RISN_TYR:c.896G>A commonName Arg 299 His RISN_TYR:c.896G>A phenoCommon OCA1A RISN_TYR:c.896G>A protEffect p.Arg299His RISN_TYR:c.926dupC commonName 926insC RISN_TYR:c.926dupC phenoCommon OCA1A RISN_TYR:c.934C>G commonName Leu 312 Val RISN_TYR:c.934C>G phenoCommon OCA1A RISN_TYR:c.934C>G protEffect p.Leu312Val RISN_TYR:c.938C>G commonName Pro 313 Arg RISN_TYR:c.938C>G phenoCommon OCA1A RISN_TYR:c.938C>G protEffect p.Pro313Arg RISN_TYR:c.973A>G commonName Thr 325 Ala RISN_TYR:c.973A>G phenoCommon OCA1B RISN_TYR:c.973A>G protEffect p.Thr325Ala RISN_TYR:c.982G>C commonName Glu 328 Gln RISN_TYR:c.982G>C phenoCommon OCA1 RISN_TYR:c.982G>C protEffect p.Glu328Gln RISN_TYR:c.1015A>G commonName Ser 339 Gly RISN_TYR:c.1015A>G phenoCommon OCA1A RISN_TYR:c.1015A>G protEffect p.Ser339Gly RISN_TYR:c.1018T>C commonName Phe 340 Leu RISN_TYR:c.1018T>C phenoCommon OCA1B RISN_TYR:c.1018T>C protEffect p.Phe340Leu RISN_TYR:c.1037-7T>A commonName IVS2-7t-a RISN_TYR:c.1037-7T>A phenoCommon OCA1B RISN_TYR:c.1037-1G>A commonName IVS2-1g-a RISN_TYR:c.1037-1G>A phenoCommon OCA1B RISN_TYR:c.1063G>C commonName Ala 355 Pro RISN_TYR:c.1063G>C phenoCommon OCA1B RISN_TYR:c.1063G>C protEffect p.Ala355Pro RISN_TYR:c.1075C>T commonName Gln 359 ter RISN_TYR:c.1075C>T phenoCommon OCA1A RISN_TYR:c.1075C>T protEffect p.Gln359X RISN_TYR:c.1081A>C commonName Ser 361 Arg RISN_TYR:c.1081A>C phenoCommon OCA1A RISN_TYR:c.1081A>C protEffect p.Ser361Arg RISN_TYR:c.1100A>G commonName His 367 Arg RISN_TYR:c.1100A>G phenoCommon OCA1A RISN_TYR:c.1100A>G protEffect p.His367Arg RISN_TYR:c.1109T>C commonName Met 370 Thr RISN_TYR:c.1109T>C phenoCommon OCA1 RISN_TYR:c.1109T>C protEffect p.Met370Thr RISN_TYR:c.1111A>T commonName Asn 371 Tyr RISN_TYR:c.1111A>T phenoCommon OCA1A RISN_TYR:c.1111A>T protEffect p.Asn371Tyr RISN_TYR:c.1112A>C commonName Asn 371 Thr RISN_TYR:c.1112A>C phenoCommon OCA1A RISN_TYR:c.1112A>C protEffect p.Asn371Thr RISN_TYR:c.1118C>A commonName Thr 373 Lys RISN_TYR:c.1118C>A phenoCommon OCA1A RISN_TYR:c.1118C>A protEffect p.Thr373Lys RISN_TYR:c.1126C>T commonName Gln 376 ter RISN_TYR:c.1126C>T phenoCommon OCA1A RISN_TYR:c.1126C>T protEffect p.Gln376X RISN_TYR:c.1132C>T commonName Gln 378 ter RISN_TYR:c.1132C>T phenoCommon OCA1A RISN_TYR:c.1132C>T protEffect p.Gln378X RISN_TYR:c.1138T>C commonName Ser 380 Pro RISN_TYR:c.1138T>C phenoCommon OCA1B RISN_TYR:c.1138T>C protEffect p.Ser380Pro RISN_TYR:c.1146C>A commonName Asn 382 Lys RISN_TYR:c.1146C>A phenoCommon OCA1A RISN_TYR:c.1146C>A protEffect p.Asn382Lys RISN_TYR:c.1147G>A commonName Asp 383 Asn RISN_TYR:c.1147G>A phenoCommon OCA1A RISN_TYR:c.1147G>A protEffect p.Asp383Asn RISN_TYR:c.1160delT commonName 1161delT RISN_TYR:c.1160delT phenoCommon OCA1A RISN_TYR:c.1163delT commonName 1163delT RISN_TYR:c.1163delT phenoCommon OCA2 RISN_TYR:c.1168C>G commonName His 390 Asp RISN_TYR:c.1168C>G phenoCommon OCA1B RISN_TYR:c.1168C>G protEffect p.His390Asp RISN_TYR:c.1183A>G commonName Ser 395 Asp RISN_TYR:c.1183A>G phenoCommon OCA1A RISN_TYR:c.1183A>G protEffect p.Ser395Asp RISN_TYR:c.1199G>T commonName Trp 400 Leu RISN_TYR:c.1199G>T phenoCommon OCA1 RISN_TYR:c.1199G>T protEffect p.Trp400Leu RISN_TYR:c.1204C>T commonName Arg 402 ter RISN_TYR:c.1204C>T phenoCommon OCA1A RISN_TYR:c.1204C>T protEffect p.Arg402X RISN_TYR:c.1205G>A commonName Arg 402 Gln RISN_TYR:c.1205G>A protEffect p.Arg402Gln RISN_TYR:c.1209G>T commonName Arg 403 Ser RISN_TYR:c.1209G>T phenoCommon OCA1B RISN_TYR:c.1209G>T protEffect p.Arg403Ser RISN_TYR:c.1211A>C commonName His 404 Pro RISN_TYR:c.1211A>C phenoCommon OCA1A RISN_TYR:c.1211A>C protEffect p.His404Pro RISN_TYR:c.1217C>T commonName Pro 406 Leu RISN_TYR:c.1217C>T phenoCommon OCA1B RISN_TYR:c.1217C>T protEffect p.Pro406Leu RISN_TYR:c.1255G>A commonName Gly 419 Arg RISN_TYR:c.1255G>A phenoCommon OCA1A RISN_TYR:c.1255G>A protEffect p.Gly419Arg RISN_TYR:c.1265G>A commonName Arg 422 Gln RISN_TYR:c.1265G>A phenoCommon OCA1TS RISN_TYR:c.1265G>A protEffect p.Arg422Gln RISN_TYR:c.1292C>T commonName Pro 431 Leu RISN_TYR:c.1292C>T phenoCommon OCA1A RISN_TYR:c.1292C>T protEffect p.Pro431Leu RISN_TYR:c.1314_1317delCTTT commonName 1314delCTTT RISN_TYR:c.1314_1317delCTTT phenoCommon OCA1A RISN_TYR:c.1315T>G commonName Phe 439 Val RISN_TYR:c.1315T>G phenoCommon OCA1 RISN_TYR:c.1315T>G protEffect p.Phe439Val RISN_TYR:c.1336G>A commonName Gly 446 Ser RISN_TYR:c.1336G>A phenoCommon OCA1A RISN_TYR:c.1336G>A protEffect p.Gly446Ser RISN_TYR:c.1342G>A commonName Asp 448 Asn RISN_TYR:c.1342G>A phenoCommon OCA1A RISN_TYR:c.1342G>A protEffect p.Asp448Asn RISN_TYR:c.1357C>T commonName Gln 453 ter RISN_TYR:c.1357C>T phenoCommon OCA1A RISN_TYR:c.1357C>T protEffect p.Gln453X RISN_TYR:c.1366+5A>G commonName IVS4+5a-g RISN_TYR:c.1366+5A>G phenoCommon OCA1B RISN_TYR:c.1366+4A>G commonName IVS4+4a-g RISN_TYR:c.1366+4A>G phenoCommon OCA1B RISN_TYR:c.1467dupT commonName 1467insT RISN_TYR:c.1467dupT phenoCommon OCA1A RISN_TYR:c.1501dupC commonName 1501insC RISN_TYR:c.1501dupC phenoCommon OCA1A RISN_TYR:c.-301C>T commonName -301c/t RISN_TYR:c.-199C>A commonName -199c/a RISN_TYR:c.-658delC commonName -658del c RISN_TYR:c.-683_-682insG commonName -682ins g RISN_TYR:c.-692_-691insC commonName -691ins c RISN_TYR:c.-802_-801insGAGAGGGAGA commonName -801ins gagagggaga RISN_RDS:c.2T>C commonName Met 1 Thr RISN_RDS:c.2T>C phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.2T>C protEffect p.Met1Thr RISN_RDS:c.37C>T commonName Arg 13 Trp RISN_RDS:c.37C>T phenoCommon Digenic RP RISN_RDS:c.37C>T protEffect p.Arg13Trp RISN_RDS:c.37C>A commonName Arg 13 Trp RISN_RDS:c.37C>A phenoCommon ADRP RISN_RDS:c.37C>A protEffect p.Arg13Trp RISN_RDS:c.73_74delTG commonName 73delTG RISN_RDS:c.73_74delTG phenoCommon Retinitis punctata albescens, ad RISN_RDS:c.80C>T commonName Ser 27 Phe RISN_RDS:c.80C>T phenoCommon COD RISN_RDS:c.80C>T protEffect p.Ser27Phe RISN_RDS:c.94A>G commonName Ile 32 Val RISN_RDS:c.94A>G phenoCommon Age related macular dystrophy RISN_RDS:c.94A>G protEffect p.Ile32Val RISN_RDS:c.96_97insC commonName 97insC RISN_RDS:c.96_97insC phenoCommon ADRP RISN_RDS:c.113delG commonName 113delG RISN_RDS:c.113delG phenoCommon Adult Onset Foveomacular Dystrophy RISN_RDS:c.133C>T commonName Leu 45 Phe RISN_RDS:c.133C>T phenoCommon Digenic RP RISN_RDS:c.133C>T protEffect p.Leu45Phe RISN_RDS:c.136C>T commonName Arg 46 ter RISN_RDS:c.136C>T phenoCommon Diffuse retinal degeneration RISN_RDS:c.136C>T protEffect p.Arg46X RISN_RDS:c.198_202delinsAAGACAGA commonName 198GATGG>AAGACAGA RISN_RDS:c.198_202delinsAAGACAGA phenoCommon ADRP RISN_RDS:c.199_201delATG commonName 199delATG RISN_RDS:c.199_201delATG phenoCommon Pattern dystrophy RISN_RDS:c.202G>A commonName Gly 68 Arg RISN_RDS:c.202G>A phenoCommon ADRP RISN_RDS:c.202G>A protEffect p.Gly68Arg RISN_RDS:c.249C>T commonName Tyr 83 Tyr RISN_RDS:c.249C>T protEffect p.Tyr83Tyr RISN_RDS:c.303C>T commonName Tyr 101 Tyr RISN_RDS:c.303C>T protEffect p.Tyr101Tyr RISN_RDS:c.318C>T commonName Val 106 Val RISN_RDS:c.318C>T protEffect p.Val106Val RISN_RDS:c.355_357delTGC commonName 355delTGC RISN_RDS:c.355_357delTGC phenoCommon ADRP RISN_RDS:c.371delG commonName 371delG RISN_RDS:c.371delG phenoCommon CRD RISN_RDS:c.376C>G commonName Leu 126 Arg RISN_RDS:c.376C>G phenoCommon ADRP RISN_RDS:c.376C>G protEffect p.Leu126Arg RISN_RDS:c.421T>C commonName Tyr 141 His RISN_RDS:c.421T>C phenoCommon ADRP RISN_RDS:c.421T>C protEffect p.Tyr141His RISN_RDS:c.422A>G commonName Tyr 141 Cys RISN_RDS:c.422A>G phenoCommon ADRP RISN_RDS:c.422A>G protEffect p.Tyr141Cys RISN_RDS:c.423_424insTACT commonName 424insTACT RISN_RDS:c.423_424insTACT phenoCommon Pattern dystrophy RISN_RDS:c.424C>T commonName Arg 142 Trp RISN_RDS:c.424C>T phenoCommon CACD RISN_RDS:c.424C>T protEffect p.Arg142Trp RISN_RDS:c.441delT commonName 441delT RISN_RDS:c.441delT phenoCommon CACD RISN_RDS:c.458A>G commonName Lys 153 Arg RISN_RDS:c.458A>G phenoCommon ADRP RISN_RDS:c.458A>G protEffect p.Lys153Arg RISN_RDS:c.460_462delAAG commonName 460delAAG RISN_RDS:c.460_462delAAG phenoCommon Fundus flavimaculatus RISN_RDS:c.469G>A commonName Asp 157 Asn RISN_RDS:c.469G>A phenoCommon Pattern dystrophy RISN_RDS:c.469G>A protEffect p.Asp157Asn RISN_RDS:c.494G>A commonName Cys 165 Tyr RISN_RDS:c.494G>A phenoCommon ADRP RISN_RDS:c.494G>A protEffect p.Cys165Tyr RISN_RDS:c.500G>A commonName Gly 167 Asp RISN_RDS:c.500G>A phenoCommon Butterfly shaped pigment dystrophy RISN_RDS:c.500G>A protEffect p.Gly167Asp RISN_RDS:c.505_507delAAC commonName 505delAAC RISN_RDS:c.505_507delAAC phenoCommon MD RISN_RDS:c.508G>A commonName Gly 170 Ser RISN_RDS:c.508G>A phenoCommon CRD RISN_RDS:c.508G>A protEffect p.Gly170Ser RISN_RDS:c.514C>G commonName Arg 172 Gly RISN_RDS:c.514C>G phenoCommon CACD RISN_RDS:c.514C>G protEffect p.Arg172Gly RISN_RDS:c.514C>T commonName Arg 172 Trp RISN_RDS:c.514C>T phenoCommon MD RISN_RDS:c.514C>T protEffect p.Arg172Trp RISN_RDS:c.515G>A commonName Arg 172 Gln RISN_RDS:c.515G>A phenoCommon MD RISN_RDS:c.515G>A protEffect p.Arg172Gln RISN_RDS:c.518A>T commonName Asp 173 Val RISN_RDS:c.518A>T phenoCommon ADRP RISN_RDS:c.518A>T protEffect p.Asp173Val RISN_RDS:c.533A>G commonName Gln 178 Arg RISN_RDS:c.533A>G phenoCommon RP RISN_RDS:c.533A>G protEffect p.Gln178Arg RISN_RDS:c.535T>C commonName Trp 179 Arg RISN_RDS:c.535T>C phenoCommon ADRP RISN_RDS:c.535T>C protEffect p.Trp179Arg RISN_RDS:c.551A>C commonName Tyr 184 Ser RISN_RDS:c.551A>C phenoCommon Cone-Rod dystrophy RISN_RDS:c.551A>C protEffect p.Tyr184Ser RISN_RDS:c.554T>C commonName Leu 185 Pro RISN_RDS:c.554T>C phenoCommon Digenic RP RISN_RDS:c.554T>C protEffect p.Leu185Pro RISN_RDS:c.577_579delAAA commonName 577delAAA RISN_RDS:c.577_579delAAA phenoCommon Pattern Dystrophy RISN_RDS:c.578_579delAA commonName 578delAA RISN_RDS:c.578_579delAA phenoCommon ADRP RISN_RDS:c.(?_582)_(1038_?)del commonName Microdeletion RISN_RDS:c.(?_582)_(1038_?)del phenoCommon ADRP RISN_RDS:c.584G>T commonName Arg 195 Leu RISN_RDS:c.584G>T phenoCommon CACD RISN_RDS:c.584G>T protEffect p.Arg195Leu RISN_RDS:c.589A>G commonName Lys 197 Glu RISN_RDS:c.589A>G phenoCommon Cone-Rod dystrophy RISN_RDS:c.589A>G protEffect p.Lys197Glu RISN_RDS:c.599T>A commonName Val 200 Glu RISN_RDS:c.599T>A phenoCommon ADRP RISN_RDS:c.599T>A protEffect p.Val200Glu RISN_RDS:c.609_625del commonName 609del17bp RISN_RDS:c.609_625del phenoCommon MD RISN_RDS:c.616_627delGTGGACGGCGTC commonName 616delGTGGACGGCGTC RISN_RDS:c.616_627delGTGGACGGCGTC phenoCommon ADRP RISN_RDS:c.623_624insG commonName 624insG RISN_RDS:c.623_624insG phenoCommon Pattern Dystrophy RISN_RDS:c.628C>T commonName Pro 210 Ser RISN_RDS:c.628C>T phenoCommon ADRP RISN_RDS:c.628C>T protEffect p.Pro210Ser RISN_RDS:c.629C>G commonName Pro 210 Arg RISN_RDS:c.629C>G phenoCommon Foveomacular dystrophy RISN_RDS:c.629C>G protEffect p.Pro210Arg RISN_RDS:c.629C>T commonName Pro 210 Leu RISN_RDS:c.629C>T phenoCommon ADRP RISN_RDS:c.629C>T protEffect p.Pro210Leu RISN_RDS:c.633C>A commonName Phe 211 Leu RISN_RDS:c.633C>A phenoCommon ADRP RISN_RDS:c.633C>A protEffect p.Phe211Leu RISN_RDS:c.634A>G commonName Ser 212 Gly RISN_RDS:c.634A>G phenoCommon ADRP RISN_RDS:c.634A>G protEffect p.Ser212Gly RISN_RDS:c.635G>C commonName Ser 212 Thr RISN_RDS:c.635G>C phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.635G>C protEffect p.Ser212Thr RISN_RDS:c.637T>C commonName Cys 213 Arg RISN_RDS:c.637T>C phenoCommon Pattern dystrophy RISN_RDS:c.637T>C protEffect p.Cys213Arg RISN_RDS:c.638G>A commonName Cys 213 Tyr RISN_RDS:c.638G>A phenoCommon Pattern dystrophy RISN_RDS:c.638G>A protEffect p.Cys213Tyr RISN_RDS:c.641G>C commonName Cys 214 Ser RISN_RDS:c.641G>C phenoCommon ADRP RISN_RDS:c.641G>C protEffect p.Cys214Ser RISN_RDS:c.641G>A commonName Cys 214 Tyr RISN_RDS:c.641G>A phenoCommon ADRP RISN_RDS:c.641G>A protEffect p.Cys214Tyr RISN_RDS:c.646C>T commonName Pro 216 Ser RISN_RDS:c.646C>T phenoCommon ADRP RISN_RDS:c.646C>T protEffect p.Pro216Ser RISN_RDS:c.647C>T commonName Pro 216 Leu RISN_RDS:c.647C>T phenoCommon ADRP RISN_RDS:c.647C>T protEffect p.Pro216Leu RISN_RDS:c.656_658delCAC commonName 656delCAC RISN_RDS:c.656_658delCAC phenoCommon ADRP RISN_RDS:c.656C>G commonName Pro 219 Arg RISN_RDS:c.656C>G phenoCommon MD RISN_RDS:c.656C>G protEffect p.Pro219Arg RISN_RDS:c.658C>T commonName Arg 220 Trp RISN_RDS:c.658C>T phenoCommon Pattern dystrophy RISN_RDS:c.658C>T protEffect p.Arg220Trp RISN_RDS:c.659G>A commonName Arg 220 Gln RISN_RDS:c.659G>A phenoCommon Pattern dystrophy RISN_RDS:c.659G>A protEffect p.Arg220Gln RISN_RDS:c.672_673ins37 commonName 673ins37bp RISN_RDS:c.672_673ins37 phenoCommon Adult Vitelliform Macular Dystrophy RISN_RDS:c.676C>G commonName Gln 226 Asp RISN_RDS:c.676C>G phenoCommon ADRP RISN_RDS:c.676C>G protEffect p.Gln226Asp RISN_RDS:c.700_701insT commonName 701insT RISN_RDS:c.700_701insT phenoCommon Pattern dystrophy RISN_RDS:c.708C>T commonName Tyr 236 Tyr RISN_RDS:c.708C>T protEffect p.Tyr236Tyr RISN_RDS:c.715C>T commonName Gln 239 ter RISN_RDS:c.715C>T phenoCommon Pattern dystrophy RISN_RDS:c.715C>T protEffect p.Gln239X RISN_RDS:c.730A>C commonName Asn 244 His RISN_RDS:c.730A>C phenoCommon MD RISN_RDS:c.730A>C protEffect p.Asn244His RISN_RDS:c.732C>G commonName Asn 244 Lys RISN_RDS:c.732C>G phenoCommon Cone-Rod dystrophy RISN_RDS:c.732C>G protEffect p.Asn244Lys RISN_RDS:c.732C>A commonName Asn 244 Lys RISN_RDS:c.732C>A phenoCommon ADRP + Bull´s Eye Maculopathy RISN_RDS:c.732C>A protEffect p.Asn244Lys RISN_RDS:c.736T>C commonName Trp 246 Arg RISN_RDS:c.736T>C phenoCommon ADRP RISN_RDS:c.736T>C protEffect p.Trp246Arg RISN_RDS:c.773A>C commonName Tyr 258 ter RISN_RDS:c.773A>C phenoCommon MD RISN_RDS:c.773A>C protEffect p.Tyr258X RISN_RDS:c.797G>A commonName Gly 266 Asp RISN_RDS:c.797G>A phenoCommon ADRP RISN_RDS:c.797G>A protEffect p.Gly266Asp RISN_RDS:c.802G>A commonName Val 268 Ile RISN_RDS:c.802G>A phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.802G>A protEffect p.Val268Ile RISN_RDS:c.824_825delTC commonName 824delTC RISN_RDS:c.824_825delTC phenoCommon MD RISN_RDS:c.828+21_828+22ins7 commonName IVS2+22ins7bp RISN_RDS:c.828+21_828+22ins7 phenoCommon MD RISN_RDS:c.828+3A>T commonName IVS2+3A>T RISN_RDS:c.828+3A>T phenoCommon Adult dominant retinal degeneration RISN_RDS:c.855C>A commonName Tyr 285 ter RISN_RDS:c.855C>A phenoCommon Pattern Dystrophy RISN_RDS:c.855C>A protEffect p.Tyr285X RISN_RDS:c.866C>T commonName Ser 289 Leu RISN_RDS:c.866C>T phenoCommon Cone Dystrophy RISN_RDS:c.866C>T protEffect p.Ser289Leu RISN_RDS:c.897_898delTG commonName 897delTG RISN_RDS:c.897_898delTG phenoCommon Butterfly shaped pigment dystrophy RISN_RDS:c.904G>T commonName Glu 302 ter RISN_RDS:c.904G>T phenoCommon Pseudovitelliform macular dystrophy RISN_RDS:c.904G>T protEffect p.Glu302X RISN_RDS:c.910G>C commonName Glu 304 Gln RISN_RDS:c.910G>C protEffect p.Glu304Gln RISN_RDS:c.914_922del commonName 914del9bp RISN_RDS:c.914_922del phenoCommon ADRP RISN_RDS:c.914G>A commonName Gly 305 Asp RISN_RDS:c.914G>A phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.914G>A protEffect p.Gly305Asp RISN_RDS:c.920delT commonName 920delT RISN_RDS:c.920delT phenoCommon ADRP RISN_RDS:c.929A>G commonName Lys 310 Arg RISN_RDS:c.929A>G protEffect p.Lys310Arg RISN_RDS:c.938C>T commonName Pro 313 Leu RISN_RDS:c.938C>T protEffect p.Pro313Leu RISN_RDS:c.947G>A commonName Trp 316 ter RISN_RDS:c.947G>A phenoCommon Adult vitelliform macular dystrophy RISN_RDS:c.947G>A protEffect p.Trp316X RISN_RDS:c.991C>T commonName Gln 331 ter RISN_RDS:c.991C>T phenoCommon Pattern Dystrophy RISN_RDS:c.991C>T protEffect p.Gln331X RISN_RDS:c.1013G>A commonName Gly 338 Asp RISN_RDS:c.1013G>A protEffect p.Gly338Asp RISN_RDS:c.1038*148A>G commonName 1426a/g RISN_RDS:c.1038*549A>G commonName 1587a/g RISN_RDS:c.1038*768T>C commonName 1806t/c RISN_RDS:c.1891_1894del commonName 1891del4bp RISN_RDS:c.1038*904A>C commonName 1942a/c RISN_RDS:c.1038*1007A>C commonName 2045a/c RISN_RDS:c.1038*1363T>C commonName 2401t/c RISN_RDS:c.1038*1381T>C commonName 2419t/c RISN_CRX:c.21dupG commonName 21insG RISN_CRX:c.21dupG phenoCommon LCA RISN_CRX:c.100+12C>T commonName IVS1+12c/t RISN_CRX:c.100+12C>T phenoCommon Rare variant RISN_CRX:c.100+2T>C commonName IVS1+2t/c RISN_CRX:c.101-13C>G commonName IVS1-13c/g RISN_CRX:c.101-65A>T commonName IVS1-65a/t RISN_CRX:c.121C>T commonName Arg 41 Trp RISN_CRX:c.121C>T phenoCommon CORD2 RISN_CRX:c.121C>T protEffect p.Arg41Trp RISN_CRX:c.122G>A commonName Arg 41 Gln RISN_CRX:c.122G>A phenoCommon isolate RP RISN_CRX:c.122G>A protEffect p.Arg41Gln RISN_CRX:c.166G>A commonName Ala 56 Thr RISN_CRX:c.166G>A phenoCommon LCA RISN_CRX:c.166G>A protEffect p.Ala56Thr RISN_CRX:c.196G>A commonName Val 66 Ile RISN_CRX:c.196G>A protEffect p.Val66Ile RISN_CRX:c.238G>A commonName Glu 80 Lys RISN_CRX:c.238G>A phenoCommon CORD2 RISN_CRX:c.238G>A protEffect p.Glu80Lys RISN_CRX:c.239A>C commonName Glu 80 Ala RISN_CRX:c.239A>C phenoCommon CORD2 RISN_CRX:c.239A>C protEffect p.Glu80Ala RISN_CRX:c.253-15G>A commonName IVS2-15g/a RISN_CRX:c.253-18T>A commonName IVS2-18t/a RISN_CRX:p.Arg90Trp commonName Arg 90 Trp RISN_CRX:p.Arg90Trp phenoCommon LCA RISN_CRX:p.Arg90Trp protEffect p.Arg90Trp RISN_CRX:c.335C>T commonName Ala 112 Val RISN_CRX:c.335C>T phenoCommon LCA? RISN_CRX:c.335C>T protEffect p.Ala112Val RISN_CRX:c.351dupC commonName 351ins C RISN_CRX:c.351dupC phenoCommon CORD2 RISN_CRX:c.365G>A commonName Gly 122 Asp RISN_CRX:c.365G>A phenoCommon ADRP RISN_CRX:c.365G>A protEffect p.Gly122Asp RISN_CRX:c.425A>G commonName Tyr 142 Cys RISN_CRX:c.425A>G protEffect p.Tyr142Cys RISN_CRX:c.436_447del commonName 436del12bp RISN_CRX:c.436_447del phenoCommon ADRP RISN_CRX:c.444dupC commonName 444insC RISN_CRX:c.472G>A commonName Ala 158 Thr RISN_CRX:c.472G>A phenoCommon CORD2 RISN_CRX:c.472G>A protEffect p.Ala158Thr RISN_CRX:c.501_502delAG commonName 503delAG RISN_CRX:c.501_502delAG phenoCommon LCA RISN_CRX:c.505delT commonName 505delT RISN_CRX:c.505delT phenoCommon LCA RISN_CRX:c.519delG commonName 519delG RISN_CRX:c.529delG commonName 529delG RISN_CRX:c.529delG phenoCommon LCA RISN_CRX:c.541delG commonName 541delG RISN_CRX:c.549G>A commonName Gly 183 Gly RISN_CRX:c.549G>A protEffect p.Gly183Gly RISN_CRX:c.571delT commonName 571delT RISN_CRX:c.571delT phenoCommon LCA / CRD RISN_CRX:c.585dupC commonName 585insC RISN_CRX:c.585dupC phenoCommon CORD2 RISN_CRX:c.587_590delCCCC commonName 587delCCCC RISN_CRX:c.587_590delCCCC phenoCommon CORD2 RISN_CRX:c.597C>T commonName Ser 199 Ser RISN_CRX:c.597C>T protEffect p.Ser199Ser RISN_CRX:c.613delC commonName 613delC RISN_CRX:c.613delC phenoCommon CORD2 RISN_CRX:c.649delG commonName 649delG RISN_CRX:c.649delG phenoCommon LCA RISN_CRX:c.705delC commonName 705delC RISN_CRX:c.705delC phenoCommon LCA RISN_CRX:c.724G>A commonName Val 242 Met RISN_CRX:c.724G>A phenoCommon CORD2 RISN_CRX:c.724G>A protEffect p.Val242Met RISN_CRX:c.bp_720dup commonName 742ins23bp dup720-742 RISN_CRX:c.753delC commonName 753delC RISN_CRX:c.786delC commonName 786delC RISN_CRX:c.786delC phenoCommon LCA / CRD RISN_CRX:c.818C>T commonName Thr 273 Met RISN_CRX:c.818C>T protEffect p.Thr273Met RISN_GC1:c.2T>A commonName Met 1 Lys RISN_GC1:c.2T>A protEffect p.Met1Lys RISN_GC1:c.3G>A commonName Met 1 Ile RISN_GC1:c.3G>A phenoCommon CORD RISN_GC1:c.3G>A protEffect p.Met1Ile RISN_GC1:c.3G>C commonName Met 1 Ile RISN_GC1:c.3G>C phenoCommon CORD RISN_GC1:c.3G>C protEffect p.Met1Ile RISN_GC1:c.52_99dup commonName 52dup48bp RISN_GC1:c.52_99dup phenoCommon CORD RISN_GC1:c.61T>C commonName Trp 21 Arg RISN_GC1:c.61T>C protEffect p.Trp21Arg RISN_GC1:c.87dupC commonName 87insC RISN_GC1:c.121C>T commonName Leu 41 Phe RISN_GC1:c.121C>T phenoCommon CORD? RISN_GC1:c.121C>T protEffect p.Leu41Phe RISN_GC1:c.154G>T commonName Ala 52 Ser RISN_GC1:c.154G>T protEffect p.Ala52Ser RISN_GC1:c.226_239del commonName 226del14bp RISN_GC1:c.226_239del phenoCommon CORD RISN_GC1:c.289G>C commonName Glu 97 Gln RISN_GC1:c.289G>C protEffect p.Glu97Gln RISN_GC1:c.307G>A commonName Glu 103 Lys RISN_GC1:c.307G>A protEffect p.Glu103Lys RISN_GC1:c.314G>A commonName Cys 105 Tyr RISN_GC1:c.314G>A phenoCommon LCA RISN_GC1:c.314G>A protEffect p.Cys105Tyr RISN_GC1:c.387delC commonName 387delC RISN_GC1:c.387delC phenoCommon CORD RISN_GC1:c.387C>A commonName Asn 129 Lys RISN_GC1:c.387C>A phenoCommon CORD RISN_GC1:c.387C>A protEffect p.Asn129Lys RISN_GC1:c.620delC commonName 620delC RISN_GC1:c.620delC phenoCommon CORD RISN_GC1:c.779T>C commonName Leu 260 Pro RISN_GC1:c.779T>C protEffect p.Leu260Pro RISN_GC1:c.935C>T commonName Thr 312 Met RISN_GC1:c.935C>T phenoCommon LCA RISN_GC1:c.935C>T protEffect p.Thr312Met RISN_GC1:c.937C>T commonName Arg 313 Cys RISN_GC1:c.937C>T phenoCommon CORD RISN_GC1:c.937C>T protEffect p.Arg313Cys RISN_GC1:c.974T>C commonName Leu 325 Pro RISN_GC1:c.974T>C phenoCommon LCA RISN_GC1:c.974T>C protEffect p.Leu325Pro RISN_GC1:c.1052A>G commonName Tyr 351 Cys RISN_GC1:c.1052A>G protEffect p.Tyr351Cys RISN_GC1:c.1084G>T commonName Ala 362 Ser RISN_GC1:c.1084G>T protEffect p.Ala362Ser RISN_GC1:c.1236C>T commonName Asp 412 Asp RISN_GC1:c.1236C>T protEffect p.Asp412Asp RISN_GC1:c.1343C>A commonName Ser 448 ter RISN_GC1:c.1343C>A phenoCommon CORD RISN_GC1:c.1343C>A protEffect p.Ser448X RISN_GC1:c.1379-28A>G commonName IVS4-28a/g RISN_GC1:c.1424_1431dup commonName 1424-1431dup RISN_GC1:c.1424_1431dup phenoCommon LCA RISN_GC1:c.1537C>T commonName Leu 513 Phe RISN_GC1:c.1537C>T protEffect p.Leu513Phe RISN_GC1:c.1566+2T>C commonName IVS6+2t>c RISN_GC1:c.1615A>G commonName Ile 539 Val RISN_GC1:c.1615A>G phenoCommon LCA RISN_GC1:c.1615A>G protEffect p.Ile539Val RISN_GC1:c.1618C>T commonName Arg 540 Cys RISN_GC1:c.1618C>T phenoCommon CORD RISN_GC1:c.1618C>T protEffect p.Arg540Cys RISN_GC1:c.1694T>C commonName Phe 565 Ser RISN_GC1:c.1694T>C phenoCommon LCA RISN_GC1:c.1694T>C protEffect p.Phe565Ser RISN_GC1:c.1717A>G commonName Ile 573 Val RISN_GC1:c.1717A>G phenoCommon LCA RISN_GC1:c.1717A>G protEffect p.Ile573Val RISN_GC1:c.1724C>T commonName Pro 575 Leu RISN_GC1:c.1724C>T phenoCommon LCA RISN_GC1:c.1724C>T protEffect p.Pro575Leu RISN_GC1:c.1806_1830del commonName 1806del25bp RISN_GC1:c.1806_1830del phenoCommon CORD RISN_GC1:c.1956+2T>A commonName IVS9+2t>a RISN_GC1:c.1956+2T>A phenoCommon CORD RISN_GC1:c.1957-1G>T commonName IVS9-1g>t RISN_GC1:c.1957-1G>T phenoCommon CORD RISN_GC1:c.1957-1G>A commonName IVS9-1g>a RISN_GC1:c.1957-1G>A phenoCommon CORD RISN_GC1:c.1957G>A commonName Gly 653 Arg RISN_GC1:c.1957G>A protEffect p.Gly653Arg RISN_GC1:c.1978C>T commonName Arg 660 ter RISN_GC1:c.1978C>T phenoCommon LCA RISN_GC1:c.1978C>T protEffect p.Arg660X RISN_GC1:c.1979G>A commonName Arg 660 Gln RISN_GC1:c.1979G>A phenoCommon LCA RISN_GC1:c.1979G>A protEffect p.Arg660Gln RISN_GC1:c.2078_2085del commonName 2078del8bp RISN_GC1:c.2080C>A commonName Glu 694 Lys RISN_GC1:c.2080C>A protEffect p.Glu694Lys RISN_GC1:c.2101C>T commonName Pro 701 Ser RISN_GC1:c.2101C>T phenoCommon ARRP RISN_GC1:c.2101C>T protEffect p.Pro701Ser RISN_GC1:c.2109G>A commonName Ala 703 Ala RISN_GC1:c.2109G>A protEffect p.Ala703Ala RISN_GC1:c.2237A>G commonName Tyr 746 Cys RISN_GC1:c.2237A>G phenoCommon LCA RISN_GC1:c.2237A>G protEffect p.Tyr746Cys RISN_GC1:c.2248G>T commonName Glu 750 ter RISN_GC1:c.2248G>T protEffect p.Glu750X RISN_GC1:c.2302C>T commonName Arg 768 Trp RISN_GC1:c.2302C>T phenoCommon LCA RISN_GC1:c.2302C>T protEffect p.Arg768Trp RISN_GC1:c.2317A>C commonName Met 773 Leu RISN_GC1:c.2317A>C phenoCommon LCA RISN_GC1:c.2317A>C protEffect p.Met773Leu RISN_GC1:c.2346C>A commonName Leu 782 His RISN_GC1:c.2346C>A phenoCommon Rare Variant RISN_GC1:c.2346C>A protEffect p.Leu782His RISN_GC1:c.2384G>T commonName Arg 795 Leu RISN_GC1:c.2384G>T phenoCommon LCA RISN_GC1:c.2384G>T protEffect p.Arg795Leu RISN_GC1:c.2511G>C commonName Glu 837 Asp RISN_GC1:c.2511G>C phenoCommon CORD RISN_GC1:c.2511G>C protEffect p.Glu837Asp RISN_GC1:c.2512C>T commonName Arg 838 Cys RISN_GC1:c.2512C>T phenoCommon CORD6 = CORD5 RISN_GC1:c.2512C>T protEffect p.Arg838Cys RISN_GC1:c.2512C>A commonName Arg 838 Ser RISN_GC1:c.2512C>A phenoCommon CORD6/LCA RISN_GC1:c.2512C>A protEffect p.Arg838Ser RISN_GC1:c.2513G>A commonName Arg 838 His RISN_GC1:c.2513G>A phenoCommon CORD6 = CORD5 RISN_GC1:c.2513G>A protEffect p.Arg838His RISN_GC1:c.2516C>T commonName Thr 839 Met RISN_GC1:c.2516C>T phenoCommon CORD RISN_GC1:c.2516C>T protEffect p.Thr839Met RISN_GC1:c.2566A>G commonName Met 856 Val RISN_GC1:c.2566A>G protEffect p.Met856Val RISN_GC1:c.2572C>T commonName Pro 858 Ser RISN_GC1:c.2572C>T phenoCommon LCA RISN_GC1:c.2572C>T protEffect p.Pro858Ser RISN_GC1:c.2576+37G>T commonName IVS13+37g/t RISN_GC1:c.2745C>T commonName Ile 915 Thr RISN_GC1:c.2745C>T phenoCommon CORD RISN_GC1:c.2745C>T protEffect p.Ile915Thr RISN_GC1:c.2749G>C commonName Gly 917 Arg RISN_GC1:c.2749G>C phenoCommon CORD RISN_GC1:c.2749G>C protEffect p.Gly917Arg RISN_GC1:c.2800G>C commonName Ala 934 Pro RISN_GC1:c.2800G>C protEffect p.Ala934Pro RISN_GC1:c.2837C>T commonName Ala 946 Val RISN_GC1:c.2837C>T phenoCommon LCA RISN_GC1:c.2837C>T protEffect p.Ala946Val RISN_GC1:c.2849C>T commonName Ala 950 Val RISN_GC1:c.2849C>T protEffect p.Ala950Val RISN_GC1:c.2861T>C commonName Leu 954 Pro RISN_GC1:c.2861T>C phenoCommon LCA RISN_GC1:c.2861T>C protEffect p.Leu954Pro RISN_GC1:c.2899delC commonName 2899delC RISN_GC1:c.2899delC phenoCommon LCA RISN_GC1:c.2927G>T commonName Arg 976 Leu RISN_GC1:c.2927G>T phenoCommon CORD RISN_GC1:c.2927G>T protEffect p.Arg976Leu RISN_GC1:c.2943delG commonName 2943delG RISN_GC1:c.2943delG phenoCommon LCA RISN_GC1:c.2951G>A commonName Cys 984 Tyr RISN_GC1:c.2951G>A protEffect p.Cys984Tyr RISN_GC1:c.2983C>T commonName Arg 995 Trp RISN_GC1:c.2983C>T phenoCommon LCA RISN_GC1:c.2983C>T protEffect p.Arg995Trp RISN_GC1:c.3025A>T commonName Met 1009 Leu RISN_GC1:c.3025A>T phenoCommon CORD RISN_GC1:c.3025A>T protEffect p.Met1009Leu RISN_GC1:c.3043+4A>T commonName IVS16+4a>t RISN_GC1:c.3043+4A>T phenoCommon CORD RISN_GC1:c.3055C>A commonName His 1019 Pro RISN_GC1:c.3055C>A phenoCommon CORD RISN_GC1:c.3055C>A protEffect p.His1019Pro RISN_GC1:c.3055_3064delins4 commonName 3055del10bpins4bp RISN_GC1:c.3055_3064delins4 phenoCommon LCA RISN_GC1:c.3078_3079delGA commonName 3078delGA RISN_GC1:c.3078_3079delGA phenoCommon CORD RISN_GC1:c.3106C>T commonName Gln 1036 ter RISN_GC1:c.3106C>T phenoCommon CORD RISN_GC1:c.3106C>T protEffect p.Gln1036X RISN_GC1:c.3108G>T commonName Gln 1036 His RISN_GC1:c.3108G>T phenoCommon LCA RISN_GC1:c.3108G>T protEffect p.Gln1036His RISN_GC1:c.3118C>G commonName Arg 1040 Gly RISN_GC1:c.3118C>G phenoCommon LCA RISN_GC1:c.3118C>G protEffect p.Arg1040Gly RISN_GC1:c.3118C>T commonName Arg 1040 ter RISN_GC1:c.3118C>T protEffect p.Arg1040X RISN_GC1:c.3138+34G>T commonName IVS17+34g/t RISN_GC1:c.3181G>A commonName Gly 1061 Ser RISN_GC1:c.3181G>A protEffect p.Gly1061Ser RISN_GC1:c.3205delC commonName 3205delC RISN_GC1:c.3205delC phenoCommon EOSRP RISN_GC1:c.3235_3236insACCA commonName 3236insACCA RISN_GC1:c.3235_3236insACCA phenoCommon EOSRP RISN_GC1:c.3282G>T commonName Leu 1094 Leu RISN_GC1:c.3282G>T protEffect p.Leu1094Leu RISN_GC1:c.1026+171delG commonName IVS3+171delg RISN_GC1:c.1026+171delG phenoCommon ACHM RISN_GC1:c.341T>C commonName Thr 114 Ile RISN_GC1:c.341T>C phenoCommon Atypical RP RISN_GC1:c.341T>C protEffect p.Thr114Ile RISN_GC1:c.577C>T commonName Asp 189 Asp RISN_GC1:c.577C>T phenoCommon MD, ACHM RISN_GC1:c.577C>T protEffect p.Asp189Asp RISN_ABCR:c.634C>T commonName Arg 212 Cys RISN_ABCR:c.634C>T phenoCommon AMD RISN_ABCR:c.634C>T protEffect p.Arg212Cys RISN_ABCR:c.769-5T>G commonName IVS6-5t/g RISN_ABCR:c.769-5T>G phenoCommon AMD RISN_ABCR:c.1411G>A commonName Glu 471 Lys RISN_ABCR:c.1411G>A phenoCommon AMD RISN_ABCR:c.1411G>A protEffect p.Glu471Lys RISN_ABCR:c.2453G>A commonName Gly 818 Glu RISN_ABCR:c.2453G>A phenoCommon AMD RISN_ABCR:c.2453G>A protEffect p.Gly818Glu RISN_ABCR:c.2588G>C commonName 2588G>C =; Gly 863 Ala RISN_ABCR:c.2588G>C phenoCommon AMD RISN_ABCR:c.2588G>C protEffect p.Gly863Ala RISN_ABCR:c.2884delC commonName 2884delC RISN_ABCR:c.2884delC phenoCommon AMD RISN_ABCR:c.3113C>T commonName Ala 1038 Val RISN_ABCR:c.3113C>T phenoCommon AMD RISN_ABCR:c.3113C>T protEffect p.Ala1038Val RISN_ABCR:c.3386G>T commonName Arg 1129 Leu RISN_ABCR:c.3386G>T phenoCommon AMD RISN_ABCR:c.3386G>T protEffect p.Arg1129Leu RISN_ABCR:c.4283C>T commonName Thr 1428 Met RISN_ABCR:c.4283C>T phenoCommon AMD RISN_ABCR:c.4283C>T protEffect p.Thr1428Met RISN_ABCR:c.4297G>A commonName Val 1433 Ile RISN_ABCR:c.4297G>A phenoCommon AMD RISN_ABCR:c.4297G>A protEffect p.Val1433Ile RISN_ABCR:c.4549C>A commonName Arg 1517 Ser RISN_ABCR:c.4549C>A phenoCommon AMD RISN_ABCR:c.4549C>A protEffect p.Arg1517Ser RISN_ABCR:c.4685T>C commonName Ile 1562 Thr RISN_ABCR:c.4685T>C phenoCommon AMD RISN_ABCR:c.4685T>C protEffect p.Ile1562Thr RISN_ABCR:c.4714A>T commonName Thr 1572 Met RISN_ABCR:c.4714A>T phenoCommon AMD RISN_ABCR:c.4714A>T protEffect p.Thr1572Met RISN_ABCR:c.4732G>A commonName Gly 1578 Arg RISN_ABCR:c.4732G>A phenoCommon AMD RISN_ABCR:c.4732G>A protEffect p.Gly1578Arg RISN_ABCR:c.4773+1G>T commonName IVS33+1g>t RISN_ABCR:c.4773+1G>T phenoCommon AMD RISN_ABCR:c.5196+1G>A commonName IVS36+1g>a RISN_ABCR:c.5196+1G>A phenoCommon AMD RISN_ABCR:c.5693G>A commonName Arg 1898 His RISN_ABCR:c.5693G>A phenoCommon AMD RISN_ABCR:c.5693G>A protEffect p.Arg1898His RISN_ABCR:c.5882G>A commonName Gly 1961 Glu RISN_ABCR:c.5882G>A phenoCommon AMD RISN_ABCR:c.5882G>A protEffect p.Gly1961Glu RISN_ABCR:c.5908C>T commonName Leu 1970 Phe RISN_ABCR:c.5908C>T phenoCommon AMD RISN_ABCR:c.5908C>T protEffect p.Leu1970Phe RISN_ABCR:c.6148G>C commonName Val 2050 Leu RISN_ABCR:c.6148G>C phenoCommon AMD RISN_ABCR:c.6148G>C protEffect p.Val2050Leu RISN_ABCR:c.6498C>G commonName Ile 2166 Met RISN_ABCR:c.6498C>G phenoCommon AMD RISN_ABCR:c.6498C>G protEffect p.Ile2166Met RISN_ABCR:c.6519_6529del commonName 6519del11bp RISN_ABCR:c.6519_6529del phenoCommon AMD RISN_ABCR:c.6529G>A commonName Asp 2177 Asn RISN_ABCR:c.6529G>A phenoCommon AMD RISN_ABCR:c.6529G>A protEffect p.Asp2177Asn RISN_ABCR:c.6568delC commonName 6568delC RISN_ABCR:c.6568delC phenoCommon AMD RISN_ABCR:c.2585C>T commonName Pro 862 Leu RISN_ABCR:c.2585C>T phenoCommon AMD/Variant RISN_ABCR:c.2585C>T protEffect p.Pro862Leu RISN_ABCR:c.6088C>T commonName Arg 2030 ter RISN_ABCR:c.6088C>T phenoCommon arCRD RISN_ABCR:c.6088C>T protEffect p.Arg2030X RISN_ABCR:c.6449G>A commonName Cys 2150 Tyr RISN_ABCR:c.6449G>A phenoCommon arCRD RISN_ABCR:c.6449G>A protEffect p.Cys2150Tyr RISN_ABCR:c.1760+2T>G commonName IVS12+2t>g RISN_ABCR:c.1760+2T>G phenoCommon ARRP RISN_ABCR:c.1847delA commonName 1847delA RISN_ABCR:c.1847delA phenoCommon ARRP RISN_ABCR:c.2827C>G commonName Arg 943 Gln RISN_ABCR:c.2827C>G phenoCommon ARRP RISN_ABCR:c.2827C>G protEffect p.Arg943Gln RISN_ABCR:c.3523-28T>C commonName IVS23-28t>c RISN_ABCR:c.3523-28T>C phenoCommon ARRP RISN_ABCR:c.4539+1G>T commonName IVS30+1g>t RISN_ABCR:c.4539+1G>T phenoCommon ARRP RISN_ABCR:c.4773+48C>T commonName IVS33+48c>t RISN_ABCR:c.4773+48C>T phenoCommon ARRP RISN_ABCR:c.5585-70T>C commonName IVS39-70c>t RISN_ABCR:c.5585-70T>C phenoCommon ARRP RISN_ABCR:c.5888delG commonName 5888delG RISN_ABCR:c.5888delG phenoCommon ARRP RISN_ABCR:c.5917delG commonName 5917delG RISN_ABCR:c.5917delG phenoCommon ARRP RISN_ABCR:c.52C>T commonName Arg 18 Trp RISN_ABCR:c.52C>T phenoCommon CRD RISN_ABCR:c.52C>T protEffect p.Arg18Trp RISN_ABCR:c.70C>T commonName Arg 24 Cys RISN_ABCR:c.70C>T phenoCommon CRD RISN_ABCR:c.70C>T protEffect p.Arg24Cys RISN_ABCR:c.194G>A commonName Gly 65 Glu RISN_ABCR:c.194G>A phenoCommon CRD RISN_ABCR:c.194G>A protEffect p.Gly65Glu RISN_ABCR:c.249_250insCAAA commonName 250insCAAA RISN_ABCR:c.249_250insCAAA phenoCommon CRD RISN_ABCR:c.481G>A commonName Glu 161 Lys RISN_ABCR:c.481G>A phenoCommon CRD RISN_ABCR:c.481G>A protEffect p.Glu161Lys RISN_ABCR:c.768G>T commonName Val 256 Val RISN_ABCR:c.768G>T phenoCommon CRD RISN_ABCR:c.768G>T protEffect p.Val256Val RISN_ABCR:c.1066A>T commonName Lys 356 ter RISN_ABCR:c.1066A>T phenoCommon CRD RISN_ABCR:c.1066A>T protEffect p.Lys356X RISN_ABCR:c.1622T>C commonName Leu 541 Pro RISN_ABCR:c.1622T>C phenoCommon CRD RISN_ABCR:c.1622T>C protEffect p.Leu541Pro RISN_ABCR:c.1789C>T commonName Pro 597 Ser RISN_ABCR:c.1789C>T phenoCommon CRD RISN_ABCR:c.1789C>T protEffect p.Pro597Ser RISN_ABCR:c.1853G>A commonName Gly 618 Glu RISN_ABCR:c.1853G>A phenoCommon CRD RISN_ABCR:c.1853G>A protEffect p.Gly618Glu RISN_ABCR:c.2300T>A commonName Val 767 Asp RISN_ABCR:c.2300T>A phenoCommon CRD RISN_ABCR:c.2300T>A protEffect p.Val767Asp RISN_ABCR:c.2588-12C>G commonName IVS16-12c>g RISN_ABCR:c.2588-12C>G phenoCommon CRD RISN_ABCR:c.3085C>T commonName Glu 1029 ter RISN_ABCR:c.3085C>T phenoCommon CRD RISN_ABCR:c.3085C>T protEffect p.Glu1029X RISN_ABCR:c.3259G>A commonName Glu 1087 Lys RISN_ABCR:c.3259G>A phenoCommon CRD RISN_ABCR:c.3259G>A protEffect p.Glu1087Lys RISN_ABCR:c.3364G>A commonName Glu 1122 Lys RISN_ABCR:c.3364G>A phenoCommon CRD RISN_ABCR:c.3364G>A protEffect p.Glu1122Lys RISN_ABCR:c.3862+1G>A commonName IVS26+1g>a RISN_ABCR:c.3862+1G>A phenoCommon CRD RISN_ABCR:c.4035_4036dupCA commonName 4035insCA RISN_ABCR:c.4035_4036dupCA phenoCommon CRD RISN_ABCR:c.4469G>A commonName Cys 1490 Tyr RISN_ABCR:c.4469G>A phenoCommon CRD RISN_ABCR:c.4469G>A protEffect p.Cys1490Tyr RISN_ABCR:c.4537_4538insC commonName 4538insC RISN_ABCR:c.4537_4538insC phenoCommon CRD RISN_ABCR:c.4919G>A commonName Arg 1640 Gln RISN_ABCR:c.4919G>A phenoCommon CRD RISN_ABCR:c.4919G>A protEffect p.Arg1640Gln RISN_ABCR:c.4918C>T commonName Arg 1640 Trp RISN_ABCR:c.4918C>T phenoCommon CRD RISN_ABCR:c.4918C>T protEffect p.Arg1640Trp RISN_ABCR:c.5196+2T>C commonName IVS36+2t>c RISN_ABCR:c.5196+2T>C phenoCommon CRD RISN_ABCR:c.5381C>A commonName Ala 1794 Asp RISN_ABCR:c.5381C>A phenoCommon CRD RISN_ABCR:c.5381C>A protEffect p.Ala1794Asp RISN_ABCR:c.5461-10T>C commonName IVS38-10t/c RISN_ABCR:c.5461-10T>C phenoCommon CRD RISN_ABCR:c.5714+5G>A commonName IVS40+5g>a RISN_ABCR:c.5714+5G>A phenoCommon CRD RISN_ABCR:c.6079C>T commonName Leu 2027 Phe RISN_ABCR:c.6079C>T phenoCommon CRD RISN_ABCR:c.6079C>T protEffect p.Leu2027Phe RISN_ABCR:c.6601_6602delAG commonName 6601delAG RISN_ABCR:c.6601_6602delAG phenoCommon CRD RISN_ABCR:c.32T>C commonName Leu 11 Pro RISN_ABCR:c.32T>C protEffect p.Leu11Pro RISN_ABCR:c.122G>A commonName Trp 41 ter RISN_ABCR:c.122G>A protEffect p.Trp41X RISN_ABCR:c.161G>T commonName Cys 54 Phe RISN_ABCR:c.161G>T protEffect p.Cys54Phe RISN_ABCR:c.178G>A commonName Ala 60 Thr RISN_ABCR:c.178G>A protEffect p.Ala60Thr RISN_ABCR:c.203C>T commonName Pro 68 Leu RISN_ABCR:c.203C>T protEffect p.Pro68Leu RISN_ABCR:c.214G>A commonName Gly 72 Arg RISN_ABCR:c.214G>A protEffect p.Gly72Arg RISN_ABCR:c.296dupA commonName 296insA RISN_ABCR:c.302+1G>A commonName IVS3+1g>a RISN_ABCR:c.666_678del commonName 666del13bp RISN_ABCR:c.667_678del commonName 667del12bp RISN_ABCR:c.667_680del commonName 667del14bp RISN_ABCR:c.671delC commonName 671delC RISN_ABCR:c.730_731delCT commonName 730delCT RISN_ABCR:c.740A>T commonName Asn 247 Ile RISN_ABCR:c.740A>T protEffect p.Asn247Ile RISN_ABCR:c.740A>G commonName Asn 247 Ser RISN_ABCR:c.740A>G protEffect p.Asn247Ser RISN_ABCR:c.763C>G commonName Arg 255 Cys RISN_ABCR:c.763C>G protEffect p.Arg255Cys RISN_ABCR:c.982G>T commonName Glu 328 ter RISN_ABCR:c.982G>T protEffect p.Glu328X RISN_ABCR:c.983A>T commonName Glu 328 Val RISN_ABCR:c.983A>T protEffect p.Glu328Val RISN_ABCR:c.1015T>G commonName Trp 339 Gly RISN_ABCR:c.1015T>G protEffect p.Trp339Gly RISN_ABCR:c.1025_1038del commonName 1025del14bp RISN_ABCR:c.1036A>T commonName Lys 346 ter RISN_ABCR:c.1036A>T protEffect p.Lys346X RISN_ABCR:c.1037A>C commonName Lys 346 Thr RISN_ABCR:c.1037A>C protEffect p.Lys346Thr RISN_ABCR:c.1086T>G commonName Tyr 362 ter RISN_ABCR:c.1086T>G protEffect p.Tyr362X RISN_ABCR:c.1268A>C commonName His 423 Pro RISN_ABCR:c.1268A>C protEffect p.His423Pro RISN_ABCR:c.1317G>A commonName Trp 439 ter RISN_ABCR:c.1317G>A protEffect p.Trp439X RISN_ABCR:c.1325T>C commonName Phe 442 Ser RISN_ABCR:c.1325T>C protEffect p.Phe442Ser RISN_ABCR:c.1506_1514del commonName 1506del9bp RISN_ABCR:c.1554+1G>A commonName IVS11+1g>a RISN_ABCR:c.1555-1G>A commonName IVS11-1g>a RISN_ABCR:c.1610G>A commonName Arg 537 His RISN_ABCR:c.1610G>A protEffect p.Arg537His RISN_ABCR:c.1659C>G commonName Phe 553 Leu RISN_ABCR:c.1659C>G protEffect p.Phe553Leu RISN_ABCR:c.1798G>T commonName Asp 600 Tyr RISN_ABCR:c.1798G>T protEffect p.Asp600Tyr RISN_ABCR:c.1822T>C commonName Phe 608 Leu RISN_ABCR:c.1822T>C protEffect p.Phe608Leu RISN_ABCR:c.1823T>A commonName Phe 608 Tyr RISN_ABCR:c.1823T>A protEffect p.Phe608Tyr RISN_ABCR:c.1903C>A commonName Gln 635 Lys RISN_ABCR:c.1903C>A protEffect p.Gln635Lys RISN_ABCR:c.1908G>T commonName Gln 636 His RISN_ABCR:c.1908G>T protEffect p.Gln636His RISN_ABCR:c.1917C>T commonName Tyr 639 Tyr RISN_ABCR:c.1917C>T protEffect p.Tyr639Tyr RISN_ABCR:c.1937+1G>A commonName IVS13+1g>a RISN_ABCR:c.2057T>C commonName Leu 686 Ser RISN_ABCR:c.2057T>C protEffect p.Leu686Ser RISN_ABCR:c.2292delT commonName 2292delT RISN_ABCR:c.2295T>G commonName Ser 765 Arg RISN_ABCR:c.2295T>G protEffect p.Ser765Arg RISN_ABCR:c.2409_2410delAT commonName 2409delAT RISN_ABCR:c.2564G>A commonName Trp 855 ter RISN_ABCR:c.2564G>A protEffect p.Trp855X RISN_ABCR:c.2570delT commonName 2570delT RISN_ABCR:c.2616_2617delCT commonName 2616delCT RISN_ABCR:c.2703A>T commonName Thr 901 Thr RISN_ABCR:c.2703A>T protEffect p.Thr901Thr RISN_ABCR:c.2826delC commonName 2826delC RISN_ABCR:c.2876C>T commonName Thr 959 Ile RISN_ABCR:c.2876C>T protEffect p.Thr959Ile RISN_ABCR:c.2886delG commonName 2886delG RISN_ABCR:c.2948C>T commonName Thr 983 Ile RISN_ABCR:c.2948C>T protEffect p.Thr983Ile RISN_ABCR:c.2971G>C commonName Gly 991 Arg RISN_ABCR:c.2971G>C protEffect p.Gly991Arg RISN_ABCR:c.3163C>T commonName Arg 1055 Trp RISN_ABCR:c.3163C>T protEffect p.Arg1055Trp RISN_ABCR:c.3187T>C commonName Ser 1063 Pro RISN_ABCR:c.3187T>C protEffect p.Ser1063Pro RISN_ABCR:c.3190+1G>T commonName IVS21+1g>t RISN_ABCR:c.3191-2A>G commonName IVS21-2a>g RISN_ABCR:c.3261A>C commonName Glu 1087 Asp RISN_ABCR:c.3261A>C protEffect p.Glu1087Asp RISN_ABCR:c.3272G>A commonName Gly 1091 Glu RISN_ABCR:c.3272G>A protEffect p.Gly1091Glu RISN_ABCR:c.3278A>G commonName Asp 1093 Gly RISN_ABCR:c.3278A>G protEffect p.Asp1093Gly RISN_ABCR:c.3303G>A commonName Trp 1101 ter RISN_ABCR:c.3303G>A protEffect p.Trp1101X RISN_ABCR:c.3323G>T commonName Arg 1108 Leu RISN_ABCR:c.3323G>T protEffect p.Arg1108Leu RISN_ABCR:c.3438delC commonName 3438delC RISN_ABCR:c.3527_3528insTGCA commonName 3528insTGCA RISN_ABCR:c.3607+1G>A commonName IVS24+1g>a RISN_ABCR:c.3703A>G commonName Asn 1235 Asp RISN_ABCR:c.3703A>G protEffect p.Asn1235Asp RISN_ABCR:c.3754G>T commonName Glu 1252 ter RISN_ABCR:c.3754G>T protEffect p.Glu1252X RISN_ABCR:c.3758C>T commonName Thr 1253 Met RISN_ABCR:c.3758C>T protEffect p.Thr1253Met RISN_ABCR:c.3808G>T commonName Glu 1270 ter RISN_ABCR:c.3808G>T protEffect p.Glu1270X RISN_ABCR:c.3815dupT commonName 3815insT RISN_ABCR:c.3874C>T commonName Gln 1292 ter RISN_ABCR:c.3874C>T protEffect p.Gln1292X RISN_ABCR:c.3898C>T commonName Arg 1300 ter RISN_ABCR:c.3898C>T protEffect p.Arg1300X RISN_ABCR:c.3994C>T commonName Gln 1332 ter RISN_ABCR:c.3994C>T protEffect p.Gln1332X RISN_ABCR:c.4073T>C commonName Leu 1358 Pro RISN_ABCR:c.4073T>C protEffect p.Leu1358Pro RISN_ABCR:c.4169T>C commonName Leu 1390 Pro RISN_ABCR:c.4169T>C protEffect p.Leu1390Pro RISN_ABCR:c.4254-2A>G commonName IVS28-2a>g RISN_ABCR:c.4286T>C commonName Leu 1430 Pro RISN_ABCR:c.4286T>C protEffect p.Leu1430Pro RISN_ABCR:c.4318T>G commonName Phe 1440 Val RISN_ABCR:c.4318T>G protEffect p.Phe1440Val RISN_ABCR:c.4436G>A commonName Trp 1479 ter RISN_ABCR:c.4436G>A protEffect p.Trp1479X RISN_ABCR:c.4463G>A commonName Cys 1488 Tyr RISN_ABCR:c.4463G>A protEffect p.Cys1488Tyr RISN_ABCR:c.4540-2A>G commonName IVS30-2a>g RISN_ABCR:c.4667+2T>C commonName IVS32+2t>c RISN_ABCR:c.4707delC commonName 4707delC RISN_ABCR:c.4773+2T>C commonName IVS33+2t>c RISN_ABCR:c.4838delA commonName 4838delA RISN_ABCR:c.4854G>A commonName Trp 1618 ter RISN_ABCR:c.4854G>A protEffect p.Trp1618X RISN_ABCR:c.4875T>A commonName His 1625 Gln RISN_ABCR:c.4875T>A protEffect p.His1625Gln RISN_ABCR:c.4926C>G commonName Ser 1642 Arg RISN_ABCR:c.4926C>G protEffect p.Ser1642Arg RISN_ABCR:c.4999C>A commonName Gln 1667 Lys RISN_ABCR:c.4999C>A protEffect p.Gln1667Lys RISN_ABCR:c.5018+2T>A commonName IVS35+2t>a RISN_ABCR:c.5056G>A commonName Val 1686 Met RISN_ABCR:c.5056G>A protEffect p.Val1686Met RISN_ABCR:c.5065T>C commonName Ser 1689 Pro RISN_ABCR:c.5065T>C protEffect p.Ser1689Pro RISN_ABCR:c.5114G>T commonName Arg 1705 Leu RISN_ABCR:c.5114G>T protEffect p.Arg1705Leu RISN_ABCR:c.5160_5161delCA commonName 5160delCA RISN_ABCR:c.5196+1_5196+4del commonName IVS36+1del4bp RISN_ABCR:c.5196+1_5196+6del commonName IVS36+1del6bp RISN_ABCR:c.5196+2T>G commonName IVS36+2t>g RISN_ABCR:c.5242G>A commonName Gly 1748 Arg RISN_ABCR:c.5242G>A protEffect p.Gly1748Arg RISN_ABCR:c.5248C>T commonName Gln 1750 ter RISN_ABCR:c.5248C>T protEffect p.Gln1750X RISN_ABCR:c.5278_5286del commonName 5278del9bp RISN_ABCR:c.5288T>C commonName Leu 1763 Pro RISN_ABCR:c.5288T>C protEffect p.Leu1763Pro RISN_ABCR:c.5337C>A commonName Tyr 1779 ter RISN_ABCR:c.5337C>A protEffect p.Tyr1779X RISN_ABCR:c.5413A>G commonName Asn 1805 Asp RISN_ABCR:c.5413A>G protEffect p.Asn1805Asp RISN_ABCR:c.5460+1G>A commonName IVS38+1g>a RISN_ABCR:c.5512C>G commonName His 1838 Asp RISN_ABCR:c.5512C>G protEffect p.His1838Asp RISN_ABCR:c.5585-10T>C commonName IVS39-10t>c RISN_ABCR:c.5653G>A commonName Glu 1885 Lys RISN_ABCR:c.5653G>A protEffect p.Glu1885Lys RISN_ABCR:c.5761G>A commonName Val 1921 Met RISN_ABCR:c.5761G>A protEffect p.Val1921Met RISN_ABCR:c.5819T>C commonName Leu 1940 Pro RISN_ABCR:c.5819T>C protEffect p.Leu1940Pro RISN_ABCR:c.5912T>G commonName Leu 1971 Arg RISN_ABCR:c.5912T>G protEffect p.Leu1971Arg RISN_ABCR:c.5914G>A commonName Gly 1972 Arg RISN_ABCR:c.5914G>A protEffect p.Gly1972Arg RISN_ABCR:c.5923G>C commonName Gly 1975 Arg RISN_ABCR:c.5923G>C protEffect p.Gly1975Arg RISN_ABCR:c.5936C>T commonName Thr 1979 Ile RISN_ABCR:c.5936C>T protEffect p.Thr1979Ile RISN_ABCR:c.6118C>T commonName Arg 2040 ter RISN_ABCR:c.6118C>T protEffect p.Arg2040X RISN_ABCR:c.6179T>G commonName Leu 2060 Arg RISN_ABCR:c.6179T>G protEffect p.Leu2060Arg RISN_ABCR:c.6190G>C commonName Ala 2064 Pro RISN_ABCR:c.6190G>C protEffect p.Ala2064Pro RISN_ABCR:c.6229C>G commonName Arg 2077 Gly RISN_ABCR:c.6229C>G protEffect p.Arg2077Gly RISN_ABCR:c.6238_6239delTC commonName 6238delTC RISN_ABCR:c.6276G>A commonName Val 2029 Val RISN_ABCR:c.6276G>A protEffect p.Val2029Val RISN_ABCR:c.6320G>C commonName Arg 2107 Pro RISN_ABCR:c.6320G>C protEffect p.Arg2107Pro RISN_ABCR:c.6329G>A commonName Trp 2110 ter RISN_ABCR:c.6329G>A protEffect p.Trp2110X RISN_ABCR:c.6386+2C>G commonName IVS46+2c>g RISN_ABCR:c.6437G>A commonName Gly 2146 Asp RISN_ABCR:c.6437G>A protEffect p.Gly2146Asp RISN_ABCR:c.6609C>A commonName Tyr 2203 ter RISN_ABCR:c.6609C>A protEffect p.Tyr2203X RISN_ABCR:c.6658C>T commonName Gln 2220 ter RISN_ABCR:c.6658C>T protEffect p.Gln2220X RISN_ABCR:c.6709_6710insA commonName 6710insA RISN_ABCR:c.6813C>T commonName Ala 2271 Ala RISN_ABCR:c.6813C>T protEffect p.Ala2271Ala RISN_ABCR:c.141G>A commonName Pro 47 Pro RISN_ABCR:c.141G>A protEffect p.Pro47Pro RISN_ABCR:c.161-45G>T commonName IVS2-45t/g RISN_ABCR:c.234C>T commonName Asn 78 Asn RISN_ABCR:c.234C>T protEffect p.Asn78Asn RISN_ABCR:c.302+20C>T commonName IVS3+20c/t RISN_ABCR:c.302+26A>G commonName IVS3+26a/g RISN_ABCR:c.303-71delA commonName IVS3-71del a RISN_ABCR:c.571-29G>T commonName IVS5-29g/t RISN_ABCR:c.635G>A commonName Arg 212 His RISN_ABCR:c.635G>A protEffect p.Arg212His RISN_ABCR:c.769-32T>C commonName IVS6-32t/c RISN_ABCR:c.859-11C>T commonName IVS7-11c/t RISN_ABCR:c.873G>A commonName Pro 291 Pro RISN_ABCR:c.873G>A protEffect p.Pro291Pro RISN_ABCR:c.928G>C commonName Glu 310 Gln RISN_ABCR:c.928G>C protEffect p.Glu310Gln RISN_ABCR:c.933C>T commonName Thr 311 Thr RISN_ABCR:c.933C>T protEffect p.Thr311Thr RISN_ABCR:c.981C>T commonName Pro 327 Pro RISN_ABCR:c.981C>T protEffect p.Pro327Pro RISN_ABCR:c.989G>A commonName Gly 330 Asp RISN_ABCR:c.989G>A protEffect p.Gly330Asp RISN_ABCR:c.1100-14T>C commonName IVS8-14t/c RISN_ABCR:c.1240-14C>T commonName IVS9-14c/t RISN_ABCR:c.1248A>C commonName Ser 416 Ser RISN_ABCR:c.1248A>C protEffect p.Ser416Ser RISN_ABCR:c.1268A>G commonName His 423 Arg RISN_ABCR:c.1268A>G protEffect p.His423Arg RISN_ABCR:c.1269C>T commonName His 423 His RISN_ABCR:c.1269C>T protEffect p.His423His RISN_ABCR:c.1356+11delG commonName IVS10+11del g RISN_ABCR:c.1356+5_1356+6insC commonName IVS10+6ins c RISN_ABCR:c.1356+6G>C commonName IVS10+6g/c RISN_ABCR:c.1356+5delG commonName IVS10+5del g RISN_ABCR:c.1623A>G commonName Leu 541 Leu RISN_ABCR:c.1623A>G protEffect p.Leu541Leu RISN_ABCR:c.1653G>A commonName Val 551 Val RISN_ABCR:c.1653G>A protEffect p.Val551Val RISN_ABCR:c.1760+22G>T commonName IVS12+22g/t RISN_ABCR:c.1761-37G>A commonName IVS12-37g/a RISN_ABCR:c.1761-50G>A commonName IVS12-50g/a RISN_ABCR:c.1761-54G>A commonName IVS12-54g/a RISN_ABCR:c.1878G>A commonName Ala 626 Ala RISN_ABCR:c.1878G>A protEffect p.Ala626Ala RISN_ABCR:c.1928T>G commonName Val 643 Gly RISN_ABCR:c.1928T>G protEffect p.Val643Gly RISN_ABCR:c.2127G>A commonName Ser 709 Ser RISN_ABCR:c.2127G>A protEffect p.Ser709Ser RISN_ABCR:c.2383-10C>G commonName IVS15-10c/g RISN_ABCR:c.2536G>C commonName Asp 846 His RISN_ABCR:c.2536G>C protEffect p.Asp846His RISN_ABCR:c.2653+60G>C commonName IVS17+60g/c RISN_ABCR:c.2654-21A>T commonName IVS17-21a/t RISN_ABCR:c.2654-48G>C commonName IVS17-48g/c RISN_ABCR:c.2701A>G commonName Thr 901 Ala RISN_ABCR:c.2701A>G protEffect p.Thr901Ala RISN_ABCR:c.2744-38delC commonName IVS18-38del c RISN_ABCR:c.2744-56G>A commonName IVS18-56g/a RISN_ABCR:c.2877C>T commonName Thr 959 Thr RISN_ABCR:c.2877C>T protEffect p.Thr959Thr RISN_ABCR:c.2964C>T commonName Leu 988 Leu RISN_ABCR:c.2964C>T protEffect p.Leu988Leu RISN_ABCR:c.2992C>T commonName Leu 998 Leu RISN_ABCR:c.2992C>T protEffect p.Leu998Leu RISN_ABCR:c.3051-14T>A commonName IVS20-14t/a RISN_ABCR:c.3190+83A>T commonName IVS21+83a/t RISN_ABCR:c.3191-20C>T commonName IVS21-20c/t RISN_ABCR:c.3329-34A>G commonName IVS22-34a/g RISN_ABCR:c.3523-12C>T commonName IVS23-12c/t RISN_ABCR:c.3607+32G>A commonName IVS24+32g/a RISN_ABCR:c.3608-16T>A commonName IVS24-16t/a RISN_ABCR:c.3696T>G commonName Leu 1232 Leu RISN_ABCR:c.3696T>G protEffect p.Leu1232Leu RISN_ABCR:c.3940C>A commonName Pro 1314 Thr RISN_ABCR:c.3940C>A protEffect p.Pro1314Thr RISN_ABCR:c.4129-35A>T commonName IVS27-35a/t RISN_ABCR:c.4129-71A>T commonName IVS27-71a/t RISN_ABCR:c.4184T>C commonName Leu 1395 Pro RISN_ABCR:c.4184T>C protEffect p.Leu1395Pro RISN_ABCR:c.4203C>A commonName Pro 1401 Pro RISN_ABCR:c.4203C>A protEffect p.Pro1401Pro RISN_ABCR:c.4253+4C>T commonName IVS28+4c/t RISN_ABCR:c.4253+43G>A commonName IVS28+43g/a RISN_ABCR:c.4254-38G>A commonName IVS28-38g/a RISN_ABCR:c.4254-47T>C commonName IVS28-47t/c RISN_ABCR:c.4352+32G>A commonName IVS29+32a/g RISN_ABCR:c.4352+13G>A commonName IVS29+13g/a RISN_ABCR:c.4506C>T commonName Cys 1502 Cys RISN_ABCR:c.4506C>T protEffect p.Cys1502Cys RISN_ABCR:c.4539+35G>C commonName IVS30+35g/c RISN_ABCR:c.4539+40C>T commonName IVS30+40c/t RISN_ABCR:c.4539+3A>G commonName IVS30+3g/a RISN_ABCR:c.4539+21delG commonName IVS30+21del g RISN_ABCR:c.4668-38C>T commonName IVS32-38c/t RISN_ABCR:c.4668-15C>T commonName IVS32-15c/t RISN_ABCR:c.4746C>T commonName Asp 1582 Asp RISN_ABCR:c.4746C>T protEffect p.Asp1582Asp RISN_ABCR:c.4909G>A commonName Ala 1637 Thr RISN_ABCR:c.4909G>A protEffect p.Ala1637Thr RISN_ABCR:c.5019-32G>A commonName IVS35-32g/a RISN_ABCR:c.5196+20G>A commonName IVS36+20g/a RISN_ABCR:c.5312+45G>T commonName IVS37+45g/t RISN_ABCR:c.5461-50_5461-51insG commonName IVS38-51ins g RISN_ABCR:c.5461-38delT commonName IVS38-38del t RISN_ABCR:c.5461-52delG commonName IVS38-52del g RISN_ABCR:c.5461-49_5461-50insA commonName IVS38-50ins a RISN_ABCR:c.5584+6_5584+17delins11 commonName IVS39+6del12bpins11bp RISN_ABCR:c.5585-17T>A commonName IVS39-17t/a RISN_ABCR:c.5603A>T commonName Asn 1868 Ile RISN_ABCR:c.5603A>T protEffect p.Asn1868Ile RISN_ABCR:c.5682G>C commonName Leu 1894 Leu RISN_ABCR:c.5682G>C protEffect p.Leu1894Leu RISN_ABCR:c.5715-25A>C commonName IVS40-25a/c RISN_ABCR:c.5814A>G commonName Leu 1938 Leu RISN_ABCR:c.5814A>G protEffect p.Leu1938Leu RISN_ABCR:c.5836-40C>A commonName IVS41-40c/a RISN_ABCR:c.5836-15_5836-16insT commonName IVS41-16ins t RISN_ABCR:c.5836-11G>A commonName IVS41-11g/a RISN_ABCR:c.5836-36_5836-37insTC commonName IVS41-37ins tc RISN_ABCR:c.5836-24A>G commonName IVS41-24g/a RISN_ABCR:c.5843C>T commonName Pro 1948 Leu RISN_ABCR:c.5843C>T protEffect p.Pro1948Leu RISN_ABCR:c.5844G>A commonName Pro 1948 Pro RISN_ABCR:c.5844G>A protEffect p.Pro1948Pro RISN_ABCR:c.5868C>T commonName Asp 1956 Asp RISN_ABCR:c.5868C>T protEffect p.Asp1956Asp RISN_ABCR:c.5886T>C commonName Val 1962 Val RISN_ABCR:c.5886T>C protEffect p.Val1962Val RISN_ABCR:c.5951_5952delinsCA commonName Met 1984 Leu RISN_ABCR:c.5951_5952delinsCA protEffect p.Met1984Leu RISN_ABCR:c.6005+1G>T commonName IVS43+1g/t RISN_ABCR:c.6006-16G>A commonName IVS43-16g/a RISN_ABCR:c.6069C>T commonName Ile 2023 Ile RISN_ABCR:c.6069C>T protEffect p.Ile2023Ile RISN_ABCR:c.6076C>T commonName Leu 2026 Leu RISN_ABCR:c.6076C>T protEffect p.Leu2026Leu RISN_ABCR:c.6249C>T commonName Ile 2083 Ile RISN_ABCR:c.6249C>T protEffect p.Ile2083Ile RISN_ABCR:c.6255C>T commonName Leu 2085 Leu RISN_ABCR:c.6255C>T protEffect p.Leu2085Leu RISN_ABCR:c.6282+7G>A commonName IVS45+7g/a RISN_ABCR:c.6285T>C commonName Asp 2095 Asp RISN_ABCR:c.6285T>C protEffect p.Asp2095Asp RISN_ABCR:c.6342G>A commonName Val 2114 Val RISN_ABCR:c.6342G>A protEffect p.Val2114Val RISN_ABCR:c.6693C>T commonName Ile 2231 Ile RISN_ABCR:c.6693C>T protEffect p.Ile2231Ile RISN_ABCR:c.6721C>G commonName Leu 2241 Val RISN_ABCR:c.6721C>G protEffect p.Leu2241Val RISN_ABCR:c.6729+21C>T commonName IVS48+21c/t RISN_ABCR:c.6730-3T>C commonName IVS48-3t/c RISN_ABCR:c.6730-27C>G commonName IVS48-27c/g RISN_ABCR:c.6732G>A commonName Val 2244 Val RISN_ABCR:c.6732G>A protEffect p.Val2244Val RISN_ABCR:c.1A>G commonName Met 1 Val RISN_ABCR:c.1A>G phenoCommon STGD RISN_ABCR:c.1A>G protEffect p.Met1Val RISN_ABCR:c.38_46del commonName 38del9bp RISN_ABCR:c.38_46del phenoCommon STGD RISN_ABCR:c.45G>A commonName Trp 15 ter RISN_ABCR:c.45G>A phenoCommon STGD RISN_ABCR:c.45G>A protEffect p.Trp15X RISN_ABCR:c.71G>A commonName Arg 24 His RISN_ABCR:c.71G>A phenoCommon STGD RISN_ABCR:c.71G>A protEffect p.Arg24His RISN_ABCR:c.106delT commonName 106delT RISN_ABCR:c.106delT phenoCommon STGD RISN_ABCR:c.160+1G>A commonName IVS2+1g>a RISN_ABCR:c.160+1G>A phenoCommon STGD RISN_ABCR:c.161G>A commonName Cys 54 Tyr RISN_ABCR:c.161G>A phenoCommon STGD RISN_ABCR:c.161G>A protEffect p.Cys54Tyr RISN_ABCR:c.174C>G commonName Asn 58 Lys RISN_ABCR:c.174C>G phenoCommon STGD RISN_ABCR:c.174C>G protEffect p.Asn58Lys RISN_ABCR:c.179C>T commonName Ala 60 Val RISN_ABCR:c.179C>T phenoCommon STGD RISN_ABCR:c.179C>T protEffect p.Ala60Val RISN_ABCR:c.203C>G commonName Pro 68 Arg RISN_ABCR:c.203C>G phenoCommon STGD RISN_ABCR:c.203C>G protEffect p.Pro68Arg RISN_ABCR:c.223T>G commonName Cys 75 Gly RISN_ABCR:c.223T>G phenoCommon STGD RISN_ABCR:c.223T>G protEffect p.Cys75Gly RISN_ABCR:c.230T>A commonName Val 77 Glu RISN_ABCR:c.230T>A phenoCommon STGD RISN_ABCR:c.230T>A protEffect p.Val77Glu RISN_ABCR:c.247_250delCAAA commonName 247delCAAA RISN_ABCR:c.247_250delCAAA phenoCommon STGD RISN_ABCR:c.286A>G commonName Asn 96 Asp RISN_ABCR:c.286A>G phenoCommon STGD RISN_ABCR:c.286A>G protEffect p.Asn96Asp RISN_ABCR:c.286A>C commonName Asn 96 His RISN_ABCR:c.286A>C phenoCommon STGD RISN_ABCR:c.286A>C protEffect p.Asn96His RISN_ABCR:c.298T>C commonName Ser 100 Pro RISN_ABCR:c.298T>C phenoCommon STGD RISN_ABCR:c.298T>C protEffect p.Ser100Pro RISN_ABCR:c.324dupT commonName 324insT RISN_ABCR:c.324dupT phenoCommon STGD RISN_ABCR:c.428C>T commonName Pro 143 Leu RISN_ABCR:c.428C>T phenoCommon STGD RISN_ABCR:c.428C>T protEffect p.Pro143Leu RISN_ABCR:c.454C>T commonName Arg 152 ter RISN_ABCR:c.454C>T phenoCommon STGD RISN_ABCR:c.454C>T protEffect p.Arg152X RISN_ABCR:c.455G>A commonName Arg 152 Gln RISN_ABCR:c.455G>A phenoCommon STGD RISN_ABCR:c.455G>A protEffect p.Arg152Gln RISN_ABCR:c.466A>G commonName Ile 156 Val RISN_ABCR:c.466A>G phenoCommon STGD RISN_ABCR:c.466A>G protEffect p.Ile156Val RISN_ABCR:c.514G>A commonName Gly 172 Ser RISN_ABCR:c.514G>A phenoCommon STGD RISN_ABCR:c.514G>A protEffect p.Gly172Ser RISN_ABCR:c.570G>C commonName Gln 190 His RISN_ABCR:c.570G>C phenoCommon STGD RISN_ABCR:c.570G>C protEffect p.Gln190His RISN_ABCR:c.571-2A>G commonName IVS5-2a>g RISN_ABCR:c.571-2A>G phenoCommon STGD RISN_ABCR:c.571-1G>T commonName IVS5-1g>t RISN_ABCR:c.571-1G>T phenoCommon STGD RISN_ABCR:c.574G>A commonName Ala 192 Thr RISN_ABCR:c.574G>A phenoCommon STGD RISN_ABCR:c.574G>A protEffect p.Ala192Thr RISN_ABCR:c.618C>G commonName Ser 206 Arg RISN_ABCR:c.618C>G phenoCommon STGD RISN_ABCR:c.618C>G protEffect p.Ser206Arg RISN_ABCR:c.656G>C commonName Arg 219 Thr RISN_ABCR:c.656G>C phenoCommon STGD RISN_ABCR:c.656G>C protEffect p.Arg219Thr RISN_ABCR:c.658C>T commonName Arg 220 Cys RISN_ABCR:c.658C>T phenoCommon STGD RISN_ABCR:c.658C>T protEffect p.Arg220Cys RISN_ABCR:c.661delG commonName 661delG RISN_ABCR:c.661delG phenoCommon STGD RISN_ABCR:c.664_676del commonName 664del13bp RISN_ABCR:c.664_676del phenoCommon STGD RISN_ABCR:c.666_676del commonName 666del11bp RISN_ABCR:c.666_676del phenoCommon STGD RISN_ABCR:c.731T>C commonName Leu 244 Pro RISN_ABCR:c.731T>C phenoCommon STGD RISN_ABCR:c.731T>C protEffect p.Leu244Pro RISN_ABCR:c.746A>G commonName Asp 249 Gly RISN_ABCR:c.746A>G phenoCommon STGD RISN_ABCR:c.746A>G protEffect p.Asp249Gly RISN_ABCR:c.769-1G>T commonName IVS6-1g/t RISN_ABCR:c.769-1G>T phenoCommon STGD RISN_ABCR:c.832delT commonName 832delT RISN_ABCR:c.832delT phenoCommon STGD RISN_ABCR:c.899C>A commonName Thr 300 Asn RISN_ABCR:c.899C>A phenoCommon STGD RISN_ABCR:c.899C>A protEffect p.Thr300Asn RISN_ABCR:c.926C>G commonName Pro 309 Arg RISN_ABCR:c.926C>G phenoCommon STGD RISN_ABCR:c.926C>G protEffect p.Pro309Arg RISN_ABCR:c.997C>T commonName Arg 333 Trp RISN_ABCR:c.997C>T phenoCommon STGD RISN_ABCR:c.997C>T protEffect p.Arg333Trp RISN_ABCR:c.1007C>G commonName Ser 336 Cys RISN_ABCR:c.1007C>G phenoCommon STGD RISN_ABCR:c.1007C>G protEffect p.Ser336Cys RISN_ABCR:c.1018T>G commonName Tyr 340 Asp RISN_ABCR:c.1018T>G phenoCommon STGD RISN_ABCR:c.1018T>G protEffect p.Tyr340Asp RISN_ABCR:c.1140T>A commonName Asn 380 Lys RISN_ABCR:c.1140T>A phenoCommon STGD RISN_ABCR:c.1140T>A protEffect p.Asn380Lys RISN_ABCR:c.1222C>T commonName Arg 408 ter RISN_ABCR:c.1222C>T phenoCommon STGD RISN_ABCR:c.1222C>T protEffect p.Arg408X RISN_ABCR:c.1272T>C commonName Val 424 Ala RISN_ABCR:c.1272T>C phenoCommon STGD RISN_ABCR:c.1272T>C protEffect p.Val424Ala RISN_ABCR:c.1335C>G commonName Ser 445 Arg RISN_ABCR:c.1335C>G phenoCommon STGD RISN_ABCR:c.1335C>G protEffect p.Ser445Arg RISN_ABCR:c.1341delG commonName 1341delG RISN_ABCR:c.1341delG phenoCommon STGD RISN_ABCR:c.1344delG commonName 1344delG RISN_ABCR:c.1344delG phenoCommon STGD RISN_ABCR:c.1387_1388delTT commonName 1387delTT RISN_ABCR:c.1387_1388delTT phenoCommon STGD RISN_ABCR:c.1513_1517delATCAC commonName 1513delATCAC RISN_ABCR:c.1513_1517delATCAC phenoCommon STGD RISN_ABCR:c.1526delC commonName 1526delC RISN_ABCR:c.1526delC phenoCommon STGD RISN_ABCR:c.1569T>G commonName Asp 523 Glu RISN_ABCR:c.1569T>G phenoCommon STGD RISN_ABCR:c.1569T>G protEffect p.Asp523Glu RISN_ABCR:c.1575T>G commonName Phe 525 Cys RISN_ABCR:c.1575T>G phenoCommon STGD RISN_ABCR:c.1575T>G protEffect p.Phe525Cys RISN_ABCR:c.1609C>T commonName Arg 537 Cys RISN_ABCR:c.1609C>T phenoCommon STGD RISN_ABCR:c.1609C>T protEffect p.Arg537Cys RISN_ABCR:c.1645G>C commonName Ala 549 Pro RISN_ABCR:c.1645G>C phenoCommon STGD RISN_ABCR:c.1645G>C protEffect p.Ala549Pro RISN_ABCR:c.1648G>A commonName Gly 550 Arg RISN_ABCR:c.1648G>A phenoCommon STGD RISN_ABCR:c.1648G>A protEffect p.Gly550Arg RISN_ABCR:c.1715G>A commonName Arg 572 Gln RISN_ABCR:c.1715G>A phenoCommon STGD RISN_ABCR:c.1715G>A protEffect p.Arg572Gln RISN_ABCR:c.1715G>C commonName Arg 572 Pro RISN_ABCR:c.1715G>C phenoCommon STGD RISN_ABCR:c.1715G>C protEffect p.Arg572Pro RISN_ABCR:c.1804C>T commonName Arg 602 Trp RISN_ABCR:c.1804C>T phenoCommon STGD RISN_ABCR:c.1804C>T protEffect p.Arg602Trp RISN_ABCR:c.1805G>A commonName Arg 602 Gln RISN_ABCR:c.1805G>A phenoCommon STGD RISN_ABCR:c.1805G>A protEffect p.Arg602Gln RISN_ABCR:c.1811T>G commonName Ile 604 Ser RISN_ABCR:c.1811T>G phenoCommon STGD RISN_ABCR:c.1811T>G protEffect p.Ile604Ser RISN_ABCR:c.1819G>T commonName Gly 607 Trp RISN_ABCR:c.1819G>T phenoCommon STGD RISN_ABCR:c.1819G>T protEffect p.Gly607Trp RISN_ABCR:c.1819G>A commonName Gly 607 Arg RISN_ABCR:c.1819G>A phenoCommon STGD RISN_ABCR:c.1819G>A protEffect p.Gly607Arg RISN_ABCR:c.1894delA commonName 1894delA RISN_ABCR:c.1894delA phenoCommon STGD RISN_ABCR:c.1903C>T commonName Gln 635 ter RISN_ABCR:c.1903C>T phenoCommon STGD RISN_ABCR:c.1903C>T protEffect p.Gln635X RISN_ABCR:c.1917C>A commonName Tyr 639 ter RISN_ABCR:c.1917C>A phenoCommon STGD RISN_ABCR:c.1917C>A protEffect p.Tyr639X RISN_ABCR:c.1922G>C commonName Cys 641 Ser RISN_ABCR:c.1922G>C phenoCommon STGD RISN_ABCR:c.1922G>C protEffect p.Cys641Ser RISN_ABCR:c.1927G>A commonName Val 643 Met RISN_ABCR:c.1927G>A phenoCommon STGD RISN_ABCR:c.1927G>A protEffect p.Val643Met RISN_ABCR:c.1933G>A commonName Asp 645 Asn RISN_ABCR:c.1933G>A phenoCommon STGD RISN_ABCR:c.1933G>A protEffect p.Asp645Asn RISN_ABCR:c.1937+2T>C commonName IVS13+2t>c RISN_ABCR:c.1937+2T>C phenoCommon STGD RISN_ABCR:c.1957C>T commonName Arg 653 Cys RISN_ABCR:c.1957C>T phenoCommon STGD RISN_ABCR:c.1957C>T protEffect p.Arg653Cys RISN_ABCR:c.1989G>A commonName Trp 663 ter RISN_ABCR:c.1989G>A phenoCommon STGD RISN_ABCR:c.1989G>A protEffect p.Trp663X RISN_ABCR:c.2005_2006delAT commonName 2005delAT RISN_ABCR:c.2005_2006delAT phenoCommon STGD RISN_ABCR:c.2041C>T commonName Arg 681 ter RISN_ABCR:c.2041C>T phenoCommon STGD RISN_ABCR:c.2041C>T protEffect p.Arg681X RISN_ABCR:c.2090G>A commonName Trp 697 ter RISN_ABCR:c.2090G>A phenoCommon STGD RISN_ABCR:c.2090G>A protEffect p.Trp697X RISN_ABCR:c.2099G>A commonName Trp 700 ter RISN_ABCR:c.2099G>A phenoCommon STGD RISN_ABCR:c.2099G>A protEffect p.Trp700X RISN_ABCR:c.2147C>T commonName Thr 716 Met RISN_ABCR:c.2147C>T phenoCommon STGD RISN_ABCR:c.2147C>T protEffect p.Thr716Met RISN_ABCR:c.2160+1G>C commonName IVS14+1g>c RISN_ABCR:c.2160+1G>C phenoCommon STGD RISN_ABCR:c.2291G>A commonName Cys 764 Tyr RISN_ABCR:c.2291G>A phenoCommon STGD RISN_ABCR:c.2291G>A protEffect p.Cys764Tyr RISN_ABCR:c.2294G>A commonName Ser 765 Asn RISN_ABCR:c.2294G>A phenoCommon STGD RISN_ABCR:c.2294G>A protEffect p.Ser765Asn RISN_ABCR:c.2337C>A commonName Cys 779 ter RISN_ABCR:c.2337C>A phenoCommon STGD RISN_ABCR:c.2337C>A protEffect p.Cys779X RISN_ABCR:c.2385_2400del commonName 2385del16bp RISN_ABCR:c.2385_2400del phenoCommon STGD RISN_ABCR:c.2390T>C commonName Leu 797 Pro RISN_ABCR:c.2390T>C phenoCommon STGD RISN_ABCR:c.2390T>C protEffect p.Leu797Pro RISN_ABCR:c.2461T>A commonName Trp 821 Arg RISN_ABCR:c.2461T>A phenoCommon STGD RISN_ABCR:c.2461T>A protEffect p.Trp821Arg RISN_ABCR:c.2472C>T commonName Ile 824 Thr RISN_ABCR:c.2472C>T phenoCommon STGD RISN_ABCR:c.2472C>T protEffect p.Ile824Thr RISN_ABCR:c.2546T>C commonName Val 849 Ala RISN_ABCR:c.2546T>C phenoCommon STGD RISN_ABCR:c.2546T>C protEffect p.Val849Ala RISN_ABCR:c.2552G>A commonName Gly 851 Asp RISN_ABCR:c.2552G>A phenoCommon STGD RISN_ABCR:c.2552G>A protEffect p.Gly851Asp RISN_ABCR:c.2560G>A commonName Ala 854 Thr RISN_ABCR:c.2560G>A phenoCommon STGD RISN_ABCR:c.2560G>A protEffect p.Ala854Thr RISN_ABCR:c.2565G>A commonName Trp 855 ter RISN_ABCR:c.2565G>A phenoCommon STGD RISN_ABCR:c.2565G>A protEffect p.Trp855X RISN_ABCR:c.2587+1G>A commonName IVS16+1g>a RISN_ABCR:c.2587+1G>A phenoCommon STGD RISN_ABCR:c.2617T>C commonName Phe 873 Leu RISN_ABCR:c.2617T>C phenoCommon STGD RISN_ABCR:c.2617T>C protEffect p.Phe873Leu RISN_ABCR:c.2690C>T commonName Thr 897 Ile RISN_ABCR:c.2690C>T phenoCommon STGD RISN_ABCR:c.2690C>T protEffect p.Thr897Ile RISN_ABCR:c.2692G>A commonName Glu 898 Lys RISN_ABCR:c.2692G>A phenoCommon STGD RISN_ABCR:c.2692G>A protEffect p.Glu898Lys RISN_ABCR:c.2703A>G commonName Thr 901 Arg RISN_ABCR:c.2703A>G phenoCommon STGD RISN_ABCR:c.2703A>G protEffect p.Thr901Arg RISN_ABCR:c.2791G>A commonName Val 931 Met RISN_ABCR:c.2791G>A phenoCommon STGD RISN_ABCR:c.2791G>A protEffect p.Val931Met RISN_ABCR:c.2804T>C commonName Val 935 Ala RISN_ABCR:c.2804T>C phenoCommon STGD RISN_ABCR:c.2804T>C protEffect p.Val935Ala RISN_ABCR:c.2820C>G commonName Pro 940 Arg RISN_ABCR:c.2820C>G phenoCommon STGD RISN_ABCR:c.2820C>G protEffect p.Pro940Arg RISN_ABCR:c.2827C>T commonName Arg 943 Trp RISN_ABCR:c.2827C>T phenoCommon STGD RISN_ABCR:c.2827C>T protEffect p.Arg943Trp RISN_ABCR:c.2860T>G commonName Tyr 954 Asp RISN_ABCR:c.2860T>G phenoCommon STGD RISN_ABCR:c.2860T>G protEffect p.Tyr954Asp RISN_ABCR:c.2870A>G commonName Gln 957 Arg RISN_ABCR:c.2870A>G phenoCommon STGD RISN_ABCR:c.2870A>G protEffect p.Gln957Arg RISN_ABCR:c.2893A>G commonName Asn 965 Ser RISN_ABCR:c.2893A>G phenoCommon STGD RISN_ABCR:c.2893A>G protEffect p.Asn965Ser RISN_ABCR:c.2912C>A commonName Thr 971 Asn RISN_ABCR:c.2912C>A phenoCommon STGD RISN_ABCR:c.2912C>A protEffect p.Thr971Asn RISN_ABCR:c.2915C>A commonName Thr 972 Asn RISN_ABCR:c.2915C>A phenoCommon STGD RISN_ABCR:c.2915C>A protEffect p.Thr972Asn RISN_ABCR:c.2920T>C commonName Ser 974 Pro RISN_ABCR:c.2920T>C phenoCommon STGD RISN_ABCR:c.2920T>C protEffect p.Ser974Pro RISN_ABCR:c.2932G>T commonName Gly 978 Cys RISN_ABCR:c.2932G>T phenoCommon STGD RISN_ABCR:c.2932G>T protEffect p.Gly978Cys RISN_ABCR:c.(?_2919)_(3328_?)del commonName del exon 20 - 22 RISN_ABCR:c.(?_2919)_(3328_?)del phenoCommon STGD RISN_ABCR:c.2933G>A commonName Gly 978 Asp RISN_ABCR:c.2933G>A phenoCommon STGD RISN_ABCR:c.2933G>A protEffect p.Gly978Asp RISN_ABCR:c.2966T>C commonName Val 989 Ala RISN_ABCR:c.2966T>C phenoCommon STGD RISN_ABCR:c.2966T>C protEffect p.Val989Ala RISN_ABCR:c.2971G>T commonName Gly 991 ter RISN_ABCR:c.2971G>T phenoCommon STGD RISN_ABCR:c.2971G>T protEffect p.Gly991X RISN_ABCR:c.2977_2984del commonName 2977del8bp RISN_ABCR:c.2977_2984del phenoCommon STGD RISN_ABCR:c.3041T>G commonName Leu 1014 Arg RISN_ABCR:c.3041T>G phenoCommon STGD RISN_ABCR:c.3041T>G protEffect p.Leu1014Arg RISN_ABCR:c.3055A>G commonName Thr 1019 Ala RISN_ABCR:c.3055A>G phenoCommon STGD RISN_ABCR:c.3055A>G protEffect p.Thr1019Ala RISN_ABCR:c.3057G>T commonName Thr 1019 Met RISN_ABCR:c.3057G>T phenoCommon STGD RISN_ABCR:c.3057G>T protEffect p.Thr1019Met RISN_ABCR:c.3064G>A commonName Glu 1022 Lys RISN_ABCR:c.3064G>A phenoCommon STGD RISN_ABCR:c.3064G>A protEffect p.Glu1022Lys RISN_ABCR:c.3091A>G commonName Lys 1031 Glu RISN_ABCR:c.3091A>G phenoCommon STGD RISN_ABCR:c.3091A>G protEffect p.Lys1031Glu RISN_ABCR:c.3106G>A commonName Glu 1036 Lys RISN_ABCR:c.3106G>A phenoCommon STGD RISN_ABCR:c.3106G>A protEffect p.Glu1036Lys RISN_ABCR:c.3149G>A commonName Gly 1050 Asp RISN_ABCR:c.3149G>A phenoCommon STGD RISN_ABCR:c.3149G>A protEffect p.Gly1050Asp RISN_ABCR:c.3205_3206dupAA commonName 3205insAA RISN_ABCR:c.3205_3206dupAA phenoCommon STGD RISN_ABCR:c.3210_3211insGT commonName 3211insGT RISN_ABCR:c.3210_3211insGT phenoCommon STGD RISN_ABCR:c.3212C>T commonName Ser 1071 Leu RISN_ABCR:c.3212C>T phenoCommon STGD RISN_ABCR:c.3212C>T protEffect p.Ser1071Leu RISN_ABCR:c.3216T>C commonName Val 1072 Ala RISN_ABCR:c.3216T>C phenoCommon STGD RISN_ABCR:c.3216T>C protEffect p.Val1072Ala RISN_ABCR:c.3291A>G commonName Arg 1098 Cys RISN_ABCR:c.3291A>G phenoCommon STGD RISN_ABCR:c.3291A>G protEffect p.Arg1098Cys RISN_ABCR:c.3295T>C commonName Ser 1099 Pro RISN_ABCR:c.3295T>C phenoCommon STGD RISN_ABCR:c.3295T>C protEffect p.Ser1099Pro RISN_ABCR:c.3322C>T commonName Arg 1108 Cys RISN_ABCR:c.3322C>T phenoCommon STGD RISN_ABCR:c.3322C>T protEffect p.Arg1108Cys RISN_ABCR:c.3323G>A commonName Arg 1108 His RISN_ABCR:c.3323G>A phenoCommon STGD RISN_ABCR:c.3323G>A protEffect p.Arg1108His RISN_ABCR:c.3335C>A commonName Thr 1112 Asn RISN_ABCR:c.3335C>A phenoCommon STGD RISN_ABCR:c.3335C>A protEffect p.Thr1112Asn RISN_ABCR:c.3366G>C commonName Glu 1122 Asp RISN_ABCR:c.3366G>C phenoCommon STGD RISN_ABCR:c.3366G>C protEffect p.Glu1122Asp RISN_ABCR:c.3392delC commonName 3392delC RISN_ABCR:c.3392delC phenoCommon STGD RISN_ABCR:c.3531C>A commonName Cys 1177 ter RISN_ABCR:c.3531C>A phenoCommon STGD RISN_ABCR:c.3531C>A protEffect p.Cys1177X RISN_ABCR:c.3602T>G commonName Leu 1201 Arg RISN_ABCR:c.3602T>G phenoCommon STGD RISN_ABCR:c.3602T>G protEffect p.Leu1201Arg RISN_ABCR:c.3610G>A commonName Asp 1204 Asn RISN_ABCR:c.3610G>A phenoCommon STGD RISN_ABCR:c.3610G>A protEffect p.Asp1204Asn RISN_ABCR:c.3749T>C commonName Leu 1250 Pro RISN_ABCR:c.3749T>C phenoCommon STGD RISN_ABCR:c.3749T>C protEffect p.Leu1250Pro RISN_ABCR:c.3835_3840delGATTCT commonName 3835delGATTCT RISN_ABCR:c.3835_3840delGATTCT phenoCommon STGD RISN_ABCR:c.3899G>A commonName Arg 1300 Gln RISN_ABCR:c.3899G>A phenoCommon STGD RISN_ABCR:c.3899G>A protEffect p.Arg1300Gln RISN_ABCR:c.4139C>T commonName Pro 1380 Leu RISN_ABCR:c.4139C>T phenoCommon STGD RISN_ABCR:c.4139C>T protEffect p.Pro1380Leu RISN_ABCR:c.4163T>C commonName Leu 1388 Pro RISN_ABCR:c.4163T>C phenoCommon STGD RISN_ABCR:c.4163T>C protEffect p.Leu1388Pro RISN_ABCR:c.4195G>A commonName Glu 1399 Lys RISN_ABCR:c.4195G>A phenoCommon STGD RISN_ABCR:c.4195G>A protEffect p.Glu1399Lys RISN_ABCR:c.4200C>T commonName Tyr 1400 ter RISN_ABCR:c.4200C>T phenoCommon STGD RISN_ABCR:c.4200C>T protEffect p.Tyr1400X RISN_ABCR:c.4216C>T commonName His 1406 Tyr RISN_ABCR:c.4216C>T phenoCommon STGD RISN_ABCR:c.4216C>T protEffect p.His1406Tyr RISN_ABCR:c.4223G>T commonName Trp 1408 Leu RISN_ABCR:c.4223G>T phenoCommon STGD RISN_ABCR:c.4223G>T protEffect p.Trp1408Leu RISN_ABCR:c.4222T>C commonName Trp 1408 Arg RISN_ABCR:c.4222T>C phenoCommon STGD RISN_ABCR:c.4222T>C protEffect p.Trp1408Arg RISN_ABCR:c.4231_4232insTATG commonName 4232insTATG RISN_ABCR:c.4231_4232insTATG phenoCommon STGD RISN_ABCR:c.4234C>T commonName Gln 1412 ter RISN_ABCR:c.4234C>T phenoCommon STGD RISN_ABCR:c.4234C>T protEffect p.Gln1412X RISN_ABCR:c.4253+5G>T commonName IVS28+5g>t RISN_ABCR:c.4253+5G>T phenoCommon STGD RISN_ABCR:c.4253+1G>T commonName IVS28+1g>t RISN_ABCR:c.4253+1G>T phenoCommon STGD RISN_ABCR:c.4316G>A commonName Gly 1439 Asp RISN_ABCR:c.4316G>A phenoCommon STGD RISN_ABCR:c.4316G>A protEffect p.Gly1439Asp RISN_ABCR:c.4319T>C commonName Phe 1440 Ser RISN_ABCR:c.4319T>C phenoCommon STGD RISN_ABCR:c.4319T>C protEffect p.Phe1440Ser RISN_ABCR:c.4328G>A commonName Arg 1443 His RISN_ABCR:c.4328G>A phenoCommon STGD RISN_ABCR:c.4328G>A protEffect p.Arg1443His RISN_ABCR:c.4346G>A commonName Trp 1449 ter RISN_ABCR:c.4346G>A phenoCommon STGD RISN_ABCR:c.4346G>A protEffect p.Trp1449X RISN_ABCR:c.4353-1G>T commonName IVS29-1g>t RISN_ABCR:c.4353-1G>T phenoCommon STGD RISN_ABCR:c.4457C>T commonName Pro 1486 Leu RISN_ABCR:c.4457C>T phenoCommon STGD RISN_ABCR:c.4457C>T protEffect p.Pro1486Leu RISN_ABCR:c.4462T>C commonName Cys 1488 Arg RISN_ABCR:c.4462T>C phenoCommon STGD RISN_ABCR:c.4462T>C protEffect p.Cys1488Arg RISN_ABCR:c.4463G>T commonName Cys 1488 Phe RISN_ABCR:c.4463G>T phenoCommon STGD RISN_ABCR:c.4463G>T protEffect p.Cys1488Phe RISN_ABCR:c.4468T>A commonName Cys 1490 Tyr RISN_ABCR:c.4468T>A phenoCommon STGD RISN_ABCR:c.4468T>A protEffect p.Cys1490Tyr RISN_ABCR:c.4506C>A commonName Cys 1502 ter RISN_ABCR:c.4506C>A phenoCommon STGD RISN_ABCR:c.4506C>A protEffect p.Cys1502X RISN_ABCR:c.4535C>G commonName Pro 1512 Arg RISN_ABCR:c.4535C>G phenoCommon STGD RISN_ABCR:c.4535C>G protEffect p.Pro1512Arg RISN_ABCR:c.4538A>G commonName Gln 1513 Arg RISN_ABCR:c.4538A>G phenoCommon STGD RISN_ABCR:c.4538A>G protEffect p.Gln1513Arg RISN_ABCR:c.4574T>C commonName Leu 1525 Pro RISN_ABCR:c.4574T>C phenoCommon STGD RISN_ABCR:c.4574T>C protEffect p.Leu1525Pro RISN_ABCR:c.4577C>T commonName Thr 1526 Met RISN_ABCR:c.4577C>T phenoCommon STGD RISN_ABCR:c.4577C>T protEffect p.Thr1526Met RISN_ABCR:c.4594G>A commonName Asp 1532 Asn RISN_ABCR:c.4594G>A phenoCommon STGD RISN_ABCR:c.4594G>A protEffect p.Asp1532Asn RISN_ABCR:c.4610C>T commonName Thr 1537 Met RISN_ABCR:c.4610C>T phenoCommon STGD RISN_ABCR:c.4610C>T protEffect p.Thr1537Met RISN_ABCR:c.4748T>C commonName Leu 1583 Pro RISN_ABCR:c.4748T>C phenoCommon STGD RISN_ABCR:c.4748T>C protEffect p.Leu1583Pro RISN_ABCR:c.4774-2A>C commonName IVS33-2a>c RISN_ABCR:c.4774-2A>C phenoCommon STGD RISN_ABCR:c.4793C>A commonName Ala 1598 Asp RISN_ABCR:c.4793C>A phenoCommon STGD RISN_ABCR:c.4793C>A protEffect p.Ala1598Asp RISN_ABCR:c.4849-1G>C commonName IVS34-1g>c RISN_ABCR:c.4849-1G>C phenoCommon STGD RISN_ABCR:c.4859_4864delins4 commonName 4856del6bpins4bp RISN_ABCR:c.4859_4864delins4 phenoCommon STGD RISN_ABCR:c.4867G>A commonName Gly 1623 Ser RISN_ABCR:c.4867G>A phenoCommon STGD RISN_ABCR:c.4867G>A protEffect p.Gly1623Ser RISN_ABCR:c.4892T>C commonName Leu 1631 Pro RISN_ABCR:c.4892T>C phenoCommon STGD RISN_ABCR:c.4892T>C protEffect p.Leu1631Pro RISN_ABCR:c.4944delC commonName 4944delC RISN_ABCR:c.4944delC phenoCommon STGD RISN_ABCR:c.4954T>G commonName Tyr 1652 Asp RISN_ABCR:c.4954T>G phenoCommon STGD RISN_ABCR:c.4954T>G protEffect p.Tyr1652Asp RISN_ABCR:c.4956T>G commonName Tyr 1652 ter RISN_ABCR:c.4956T>G phenoCommon STGD RISN_ABCR:c.4956T>G protEffect p.Tyr1652X RISN_ABCR:c.5018+2T>C commonName IVS35+2t>c RISN_ABCR:c.5018+2T>C phenoCommon STGD RISN_ABCR:c.5041_5055del commonName 5041del15bp RISN_ABCR:c.5041_5055del phenoCommon STGD RISN_ABCR:c.5077G>A commonName Val 1693 Ile RISN_ABCR:c.5077G>A phenoCommon STGD RISN_ABCR:c.5077G>A protEffect p.Val1693Ile RISN_ABCR:c.5087G>A commonName Ser 1696 Asn RISN_ABCR:c.5087G>A phenoCommon STGD RISN_ABCR:c.5087G>A protEffect p.Ser1696Asn RISN_ABCR:c.5107C>G commonName Gln 1703 Glu RISN_ABCR:c.5107C>G phenoCommon STGD RISN_ABCR:c.5107C>G protEffect p.Gln1703Glu RISN_ABCR:c.5161_5162delAC commonName 5161delAC RISN_ABCR:c.5161_5162delAC phenoCommon STGD RISN_ABCR:c.5186T>C commonName Leu 1729 Pro RISN_ABCR:c.5186T>C phenoCommon STGD RISN_ABCR:c.5186T>C protEffect p.Leu1729Pro RISN_ABCR:c.5206T>C commonName Ser 1736 Pro RISN_ABCR:c.5206T>C phenoCommon STGD RISN_ABCR:c.5206T>C protEffect p.Ser1736Pro RISN_ABCR:c.5212_5222del commonName 5212del11bp RISN_ABCR:c.5212_5222del phenoCommon STGD RISN_ABCR:c.5222_5232delTGGTGGTGGGC commonName 5222delTGGTGGTGGGC RISN_ABCR:c.5222_5232delTGGTGGTGGGC phenoCommon STGD RISN_ABCR:c.5223_5233del commonName 5223del11bp RISN_ABCR:c.5223_5233del phenoCommon STGD RISN_ABCR:c.5281_5289del commonName 5281del9bp RISN_ABCR:c.5281_5289del phenoCommon STGD RISN_ABCR:c.5316G>A commonName Trp 1772 ter RISN_ABCR:c.5316G>A phenoCommon STGD RISN_ABCR:c.5316G>A protEffect p.Trp1772X RISN_ABCR:c.5327_5328delinsTG commonName Pro 1776 Leu RISN_ABCR:c.5327_5328delinsTG phenoCommon STGD RISN_ABCR:c.5327_5328delinsTG protEffect p.Pro1776Leu RISN_ABCR:c.5337C>G commonName Tyr 1779 ter RISN_ABCR:c.5337C>G phenoCommon STGD RISN_ABCR:c.5337C>G protEffect p.Tyr1779X RISN_ABCR:c.5395A>G commonName Asn 1799 Asp RISN_ABCR:c.5395A>G phenoCommon STGD RISN_ABCR:c.5395A>G protEffect p.Asn1799Asp RISN_ABCR:c.5459G>C commonName Arg 1820 Pro RISN_ABCR:c.5459G>C phenoCommon STGD RISN_ABCR:c.5459G>C protEffect p.Arg1820Pro RISN_ABCR:c.5512C>T commonName His 1838 Tyr RISN_ABCR:c.5512C>T phenoCommon STGD RISN_ABCR:c.5512C>T protEffect p.His1838Tyr RISN_ABCR:c.5527C>T commonName Arg 1843 Trp RISN_ABCR:c.5527C>T phenoCommon STGD RISN_ABCR:c.5527C>T protEffect p.Arg1843Trp RISN_ABCR:c.5537T>C commonName Ile 1846 Thr RISN_ABCR:c.5537T>C phenoCommon STGD RISN_ABCR:c.5537T>C protEffect p.Ile1846Thr RISN_ABCR:c.5584+5G>A commonName IVS39+5g>a RISN_ABCR:c.5584+5G>A phenoCommon STGD RISN_ABCR:c.5584+6T>C commonName IVS39+6t>c RISN_ABCR:c.5584+6T>C phenoCommon STGD RISN_ABCR:c.5585-1G>A commonName IVS39-1g>a RISN_ABCR:c.5585-1G>A phenoCommon STGD RISN_ABCR:c.5644A>G commonName Met 1882 Val RISN_ABCR:c.5644A>G phenoCommon STGD RISN_ABCR:c.5644A>G protEffect p.Met1882Val RISN_ABCR:c.5651T>A commonName Val 1884 Glu RISN_ABCR:c.5651T>A phenoCommon STGD RISN_ABCR:c.5651T>A protEffect p.Val1884Glu RISN_ABCR:c.5657G>A commonName Gly 1886 Glu RISN_ABCR:c.5657G>A phenoCommon STGD RISN_ABCR:c.5657G>A protEffect p.Gly1886Glu RISN_ABCR:c.5668_5670delTTC commonName 5668delTTC RISN_ABCR:c.5668_5670delTTC phenoCommon STGD RISN_ABCR:c.5687T>A commonName Val 1896 Asp RISN_ABCR:c.5687T>A phenoCommon STGD RISN_ABCR:c.5687T>A protEffect p.Val1896Asp RISN_ABCR:c.5836-2delA commonName IVS41-2del a RISN_ABCR:c.5836-2delA phenoCommon STGD RISN_ABCR:c.5898+1G>T commonName IVS42+1g>t RISN_ABCR:c.5898+1G>T phenoCommon STGD RISN_ABCR:c.5929G>A commonName Gly 1977 Ser RISN_ABCR:c.5929G>A phenoCommon STGD RISN_ABCR:c.5929G>A protEffect p.Gly1977Ser RISN_ABCR:c.5961_5964delGGAC commonName 5961delGGAC RISN_ABCR:c.5961_5964delGGAC phenoCommon STGD RISN_ABCR:c.6089G>A commonName Arg 2030 Gln RISN_ABCR:c.6089G>A phenoCommon STGD RISN_ABCR:c.6089G>A protEffect p.Arg2030Gln RISN_ABCR:c.6104T>C commonName Leu 2035 Pro RISN_ABCR:c.6104T>C phenoCommon STGD RISN_ABCR:c.6104T>C protEffect p.Leu2035Pro RISN_ABCR:c.6112C>T commonName Arg 2038 Trp RISN_ABCR:c.6112C>T phenoCommon STGD RISN_ABCR:c.6112C>T protEffect p.Arg2038Trp RISN_ABCR:c.6166A>T commonName Lys 2056 ter RISN_ABCR:c.6166A>T phenoCommon STGD RISN_ABCR:c.6166A>T protEffect p.Lys2056X RISN_ABCR:c.6213C>T commonName Tyr 2071 Phe RISN_ABCR:c.6213C>T phenoCommon STGD RISN_ABCR:c.6213C>T protEffect p.Tyr2071Phe RISN_ABCR:c.6229C>T commonName Arg 2077 Trp RISN_ABCR:c.6229C>T phenoCommon STGD RISN_ABCR:c.6229C>T protEffect p.Arg2077Trp RISN_ABCR:c.6286G>A commonName Glu 2096 Lys RISN_ABCR:c.6286G>A phenoCommon STGD RISN_ABCR:c.6286G>A protEffect p.Glu2096Lys RISN_ABCR:c.6300delG commonName 6300delG RISN_ABCR:c.6300delG phenoCommon STGD RISN_ABCR:c.6316C>T commonName Arg 2106 Cys RISN_ABCR:c.6316C>T phenoCommon STGD RISN_ABCR:c.6316C>T protEffect p.Arg2106Cys RISN_ABCR:c.6320G>A commonName Arg 2107 His RISN_ABCR:c.6320G>A phenoCommon STGD RISN_ABCR:c.6320G>A protEffect p.Arg2107His RISN_ABCR:c.6339C>G commonName Ile 2113 Met RISN_ABCR:c.6339C>G phenoCommon STGD RISN_ABCR:c.6339C>G protEffect p.Ile2113Met RISN_ABCR:c.6352delA commonName 6352delA RISN_ABCR:c.6352delA phenoCommon STGD RISN_ABCR:c.6383A>G commonName His 2128 Arg RISN_ABCR:c.6383A>G phenoCommon STGD RISN_ABCR:c.6383A>G protEffect p.His2128Arg RISN_ABCR:c.6391G>A commonName Glu 2131 Lys RISN_ABCR:c.6391G>A phenoCommon STGD RISN_ABCR:c.6391G>A protEffect p.Glu2131Lys RISN_ABCR:c.6415C>T commonName Arg 2139 Trp RISN_ABCR:c.6415C>T phenoCommon STGD RISN_ABCR:c.6415C>T protEffect p.Arg2139Trp RISN_ABCR:c.6445C>T commonName Arg 2149 ter RISN_ABCR:c.6445C>T phenoCommon STGD RISN_ABCR:c.6445C>T protEffect p.Arg2149X RISN_ABCR:c.6446G>T commonName Arg 2149 Leu RISN_ABCR:c.6446G>T phenoCommon STGD RISN_ABCR:c.6446G>T protEffect p.Arg2149Leu RISN_ABCR:c.6448T>C commonName Cys 2150 Arg RISN_ABCR:c.6448T>C phenoCommon STGD RISN_ABCR:c.6448T>C protEffect p.Cys2150Arg RISN_ABCR:c.6479A>G commonName Lys 2160 Arg RISN_ABCR:c.6479A>G phenoCommon STGD RISN_ABCR:c.6479A>G protEffect p.Lys2160Arg RISN_ABCR:c.6543_6578del commonName 6543del36bp RISN_ABCR:c.6543_6578del phenoCommon STGD RISN_ABCR:c.6563T>C commonName Phe 2188 Ser RISN_ABCR:c.6563T>C phenoCommon STGD RISN_ABCR:c.6563T>C protEffect p.Phe2188Ser RISN_ABCR:c.6686T>C commonName Leu 2229 Pro RISN_ABCR:c.6686T>C phenoCommon STGD RISN_ABCR:c.6686T>C protEffect p.Leu2229Pro RISN_ABCR:c.6707_6714delTCACACAG commonName 6707delTCACACAG RISN_ABCR:c.6707_6714delTCACACAG phenoCommon STGD RISN_ABCR:c.6708_6709insG commonName 6709insG RISN_ABCR:c.6708_6709insG phenoCommon STGD RISN_ABCR:c.6729+1G>A commonName IVS48+1g>a RISN_ABCR:c.6729+1G>A phenoCommon STGD RISN_ABCR:c.6748delA commonName 6748delA RISN_ABCR:c.6748delA phenoCommon STGD RISN_ABCR:c.6788G>T commonName Arg 2263 Leu RISN_ABCR:c.6788G>T phenoCommon STGD RISN_ABCR:c.6788G>T protEffect p.Arg2263Leu RISN_ABCR:c.2828G>A commonName Arg 943 Gln RISN_ABCR:c.2828G>A phenoCommon STGD + AMD RISN_ABCR:c.2828G>A protEffect p.Arg943Gln RISN_ABCR:c.3050+5G>A commonName IVS20+5g>a RISN_ABCR:c.3050+5G>A phenoCommon STGD + AMD RISN_ABCR:c.5451T>G commonName Asp 1817 Glu RISN_ABCR:c.5451T>G phenoCommon STGD, AMD RISN_ABCR:c.5451T>G protEffect p.Asp1817Glu RISN_ABCR:c.6764G>T commonName Ser 2255 Ile RISN_ABCR:c.6764G>T phenoCommon STGD, AMD RISN_ABCR:c.6764G>T protEffect p.Ser2255Ile RISN_ABCR:c.1938-1G>A commonName IVS13-1g>a RISN_ABCR:c.1938-1G>A phenoCommon STGD, ARRP RISN_ABCR:c.1220C>T commonName Ala 407 Val RISN_ABCR:c.1220C>T phenoCommon STGD, arCRD RISN_ABCR:c.1220C>T protEffect p.Ala407Val RISN_RPGRIP:c.1639G>T commonName Ala 547 Ser RISN_RPGRIP:c.1639G>T phenoCommon CRD RISN_RPGRIP:c.1639G>T protEffect p.Ala547Ser RISN_RPGRIP:c.2480G>T commonName Arg 827 Leu RISN_RPGRIP:c.2480G>T phenoCommon CRD RISN_RPGRIP:c.2480G>T protEffect p.Arg827Leu RISN_RPGRIP:c.195G>A commonName Trp 65 ter RISN_RPGRIP:c.195G>A phenoCommon LCA7 RISN_RPGRIP:c.195G>A protEffect p.Trp65X RISN_RPGRIP:c.511delT commonName 511delT RISN_RPGRIP:c.511delT phenoCommon LCA7 RISN_RPGRIP:c.1103delA commonName 1103delA RISN_RPGRIP:c.1103delA phenoCommon LCA7 RISN_RPGRIP:c.1525C>T commonName Gln 509 ter RISN_RPGRIP:c.1525C>T phenoCommon LCA7 RISN_RPGRIP:c.1525C>T protEffect p.Gln509X RISN_RPGRIP:c.15500_15501insTGTC commonName 1501insTGTC RISN_RPGRIP:c.15500_15501insTGTC phenoCommon LCA7 RISN_RPGRIP:c.2237G>A commonName Gly 764 Glu RISN_RPGRIP:c.2237G>A phenoCommon LCA7 RISN_RPGRIP:c.2237G>A protEffect p.Gly764Glu RISN_RPGRIP:c.2565_2566insTT commonName 2566insTT RISN_RPGRIP:c.2565_2566insTT phenoCommon LCA7 RISN_RPGRIP:c.2759dupA commonName 2759insA RISN_RPGRIP:c.2759dupA phenoCommon LCA7 RISN_RPGRIP:c.3609delT commonName 3609delT RISN_RPGRIP:c.3609delT phenoCommon LCA7 RISN_RPGRIP:c.3628_3629insG commonName 3629insG RISN_RPGRIP:c.3628_3629insG phenoCommon LCA7 RISN_RPGRIP:c.3835_3837delGAG commonName 3835delGAG RISN_RPGRIP:c.3835_3837delGAG phenoCommon LCA7 RISN_RPGRIP:c.287C>A commonName Pro 96 Gln RISN_RPGRIP:c.287C>A protEffect p.Pro96Gln RISN_RPGRIP:c.525A>G commonName Pro 175 Pro RISN_RPGRIP:c.525A>G protEffect p.Pro175Pro RISN_RPGRIP:c.574A>G commonName Lys 192 Glu RISN_RPGRIP:c.574A>G protEffect p.Lys192Glu RISN_RPGRIP:c.1797G>A commonName Pro 572 Pro RISN_RPGRIP:c.1797G>A protEffect p.Pro572Pro RISN_RPGRIP:c.3546C>T commonName Asp 1182 Asp RISN_RPGRIP:c.3546C>T protEffect p.Asp1182Asp RISN_RPGRIP:c.3780A>T commonName Ile 1260 Ile RISN_RPGRIP:c.3780A>T protEffect p.Ile1260Ile RISN_RPGRIP:c.256C>T commonName Arg 86 Trp RISN_RPGRIP:c.256C>T phenoCommon Uncertain Pathogeneity RISN_RPGRIP:c.256C>T protEffect p.Arg86Trp RISN_RPGRIP:c.1707T>G commonName Gln 589 His RISN_RPGRIP:c.1707T>G phenoCommon Uncertain Pathogeneity RISN_RPGRIP:c.1707T>G protEffect p.Gln589His RISN_RPGRIP:c.2627A>G commonName Asp 876 Gly RISN_RPGRIP:c.2627A>G phenoCommon Uncertain Pathogeneity RISN_RPGRIP:c.2627A>G protEffect p.Asp876Gly RISN_RPE65:c.2T>C commonName Met 1 Thr RISN_RPE65:c.2T>C phenoCommon LCA2, ARRP RISN_RPE65:c.2T>C protEffect p.Met1Thr RISN_RPE65:c.11+34T>A commonName IVS1+34t/a RISN_RPE65:c.11+5G>A commonName IVS1+5g>a RISN_RPE65:c.11+5G>A phenoCommon LCA2, ARRP RISN_RPE65:c.48T>C commonName Phe 16 Phe RISN_RPE65:c.48T>C protEffect p.Phe16Phe RISN_RPE65:c.57_58delGG commonName 57delGG RISN_RPE65:c.57_58delGG phenoCommon LCA RISN_RPE65:c.65T>C commonName Leu 22 Pro RISN_RPE65:c.65T>C phenoCommon LCA RISN_RPE65:c.65T>C protEffect p.Leu22Pro RISN_RPE65:c.89_90insT commonName 90insT RISN_RPE65:c.89_90insT phenoCommon LCA RISN_RPE65:c.95G>T commonName Gly 32 Val RISN_RPE65:c.95G>T protEffect p.Gly32Val RISN_RPE65:c.95-2A>T commonName IVS2-2a>t RISN_RPE65:c.95-2A>T phenoCommon LCA RISN_RPE65:c.106_114delCTCTGGCTC commonName 106delCTCTGGCTC RISN_RPE65:c.118G>A commonName Gly 40 Ser RISN_RPE65:c.118G>A phenoCommon LCA RISN_RPE65:c.118G>A protEffect p.Gly40Ser RISN_RPE65:c.131G>A commonName Arg 44 Gln RISN_RPE65:c.131G>A phenoCommon LCA RISN_RPE65:c.131G>A protEffect p.Arg44Gln RISN_RPE65:c.136delG commonName 136delG RISN_RPE65:c.136delG phenoCommon LCA RISN_RPE65:c.202C>T commonName His 68 Tyr RISN_RPE65:c.202C>T phenoCommon LCA RISN_RPE65:c.202C>T protEffect p.His68Tyr RISN_RPE65:c.208_209delinsGG commonName Phe 70 Val RISN_RPE65:c.208_209delinsGG protEffect p.Phe70Val RISN_RPE65:c.231C>A commonName Val 77 Val RISN_RPE65:c.231C>A protEffect p.Val77Val RISN_RPE65:c.235T>C commonName Tyr 79 His RISN_RPE65:c.235T>C phenoCommon ARRP RISN_RPE65:c.235T>C protEffect p.Tyr79His RISN_RPE65:c.254G>A commonName Arg 85 His RISN_RPE65:c.254G>A phenoCommon ARRP RISN_RPE65:c.254G>A protEffect p.Arg85His RISN_RPE65:c.271C>T commonName Arg 91 Trp RISN_RPE65:c.271C>T phenoCommon LCA2, ARRP RISN_RPE65:c.271C>T protEffect p.Arg91Trp RISN_RPE65:c.271_272insA commonName 272insA RISN_RPE65:c.272G>A commonName Arg 91 Gln RISN_RPE65:c.272G>A phenoCommon LCA RISN_RPE65:c.272G>A protEffect p.Arg91Gln RISN_RPE65:c.272G>C commonName Arg 91 Pro RISN_RPE65:c.272G>C protEffect p.Arg91Pro RISN_RPE65:c.283G>C commonName Glu 95 Gln RISN_RPE65:c.283G>C phenoCommon ARRP RISN_RPE65:c.283G>C protEffect p.Glu95Gln RISN_RPE65:c.290_309del commonName 290del20bp RISN_RPE65:c.290_309del phenoCommon LCA RISN_RPE65:c.304G>A commonName Glu 102 Lys RISN_RPE65:c.304G>A phenoCommon LCA2, ARRP RISN_RPE65:c.304G>A protEffect p.Glu102Lys RISN_RPE65:c.304G>T commonName Glu 102 ter RISN_RPE65:c.304G>T phenoCommon LCA2, ARRP RISN_RPE65:c.304G>T protEffect p.Glu102X RISN_RPE65:c.311G>T commonName Gly 104 Val RISN_RPE65:c.311G>T protEffect p.Gly104Val RISN_RPE65:c.353+1G>T commonName IVS4+1g>t RISN_RPE65:c.353+1G>T phenoCommon LCA RISN_RPE65:c.370C>T commonName Arg 124 ter RISN_RPE65:c.370C>T phenoCommon LCA RISN_RPE65:c.370C>T protEffect p.Arg124X RISN_RPE65:c.394G>A commonName Ala 132 Thr RISN_RPE65:c.394G>A phenoCommon ARRP RISN_RPE65:c.394G>A protEffect p.Ala132Thr RISN_RPE65:c.399T>C commonName Leu 133 Leu RISN_RPE65:c.399T>C protEffect p.Leu133Leu RISN_RPE65:c.430T>G commonName Tyr 144 Asp RISN_RPE65:c.430T>G phenoCommon LCA RISN_RPE65:c.430T>G protEffect p.Tyr144Asp RISN_RPE65:c.432C>T commonName Tyr 144 Tyr RISN_RPE65:c.432C>T protEffect p.Tyr144Tyr RISN_RPE65:c.444G>T commonName Glu 148 Asp RISN_RPE65:c.444G>T phenoCommon LCA RISN_RPE65:c.444G>T protEffect p.Glu148Asp RISN_RPE65:c.495_495+1insG commonName IVS5+1insg RISN_RPE65:c.499G>T commonName Asp 167 Tyr RISN_RPE65:c.499G>T phenoCommon ARRP RISN_RPE65:c.499G>T protEffect p.Asp167Tyr RISN_RPE65:c.544C>A commonName His 182 Asn RISN_RPE65:c.544C>A phenoCommon LCA RISN_RPE65:c.544C>A protEffect p.His182Asn RISN_RPE65:c.544C>T commonName His 182 Tyr RISN_RPE65:c.544C>T phenoCommon LCA RISN_RPE65:c.544C>T protEffect p.His182Tyr RISN_RPE65:c.570C>T commonName Tyr 190 Tyr RISN_RPE65:c.570C>T protEffect p.Tyr190Tyr RISN_RPE65:c.609C>T commonName Ala 203 Ala RISN_RPE65:c.609C>T protEffect p.Ala203Ala RISN_RPE65:c.614A>G commonName Asn 205 Ser RISN_RPE65:c.614A>G phenoCommon Rare Variant RISN_RPE65:c.614A>G protEffect p.Asn205Ser RISN_RPE65:c.615_616delCA commonName 615delCA RISN_RPE65:c.615_616delCA phenoCommon LCA2, ARRP RISN_RPE65:c.643+1G>C commonName IVS6+1g>c RISN_RPE65:c.643+1G>C phenoCommon LCA RISN_RPE65:c.643+5G>A commonName IVS6+5g>a RISN_RPE65:c.643+5G>A phenoCommon ARRP RISN_RPE65:c.644-2A>T commonName IVS6-2a>t RISN_RPE65:c.644-2A>T phenoCommon LCA RISN_RPE65:c.644A>G commonName Asp 215 Gly RISN_RPE65:c.644A>G protEffect p.Asp215Gly RISN_RPE65:c.644-1G>T commonName IVS6-1g>t RISN_RPE65:c.644-33G>C commonName IVS6-33g/c RISN_RPE65:c.644-42delT commonName IVS6-42del t RISN_RPE65:c.644-43delA commonName IVS6-43del a RISN_RPE65:c.700C>T commonName Arg 234 ter RISN_RPE65:c.700C>T phenoCommon LCA RISN_RPE65:c.700C>T protEffect p.Arg234X RISN_RPE65:c.715T>G commonName Tyr 239 Asp RISN_RPE65:c.715T>G phenoCommon LCA RISN_RPE65:c.715T>G protEffect p.Tyr239Asp RISN_RPE65:c.725+4A>G commonName IVS7+4a>g RISN_RPE65:c.725+4A>G phenoCommon ARRP RISN_RPE65:c.777_784del commonName 777del8bp RISN_RPE65:c.777_784del phenoCommon LCA RISN_RPE65:c.858+1G>A commonName IVS8+1g>a RISN_RPE65:c.858+1G>A phenoCommon LCA RISN_RPE65:c.858+1G>T commonName IVS8+1g>t RISN_RPE65:c.858+1G>T phenoCommon LCA RISN_RPE65:c.858+4A>G commonName IVS8+4a>g RISN_RPE65:c.858+4A>G phenoCommon LCA RISN_RPE65:c.859G>T commonName Val 287 Phe RISN_RPE65:c.859G>T phenoCommon LCA RISN_RPE65:c.859G>T protEffect p.Val287Phe RISN_RPE65:c.881A>C commonName Lys 294 Thr RISN_RPE65:c.881A>C phenoCommon Rare Variant RISN_RPE65:c.881A>C protEffect p.Lys294Thr RISN_RPE65:c.889delA commonName 889delA RISN_RPE65:c.889delA phenoCommon LCA RISN_RPE65:c.894delG commonName 894delG RISN_RPE65:c.894delG phenoCommon LCA RISN_RPE65:c.907A>T commonName Lys 303 ter RISN_RPE65:c.907A>T phenoCommon LCA RISN_RPE65:c.907A>T protEffect p.Lys303X RISN_RPE65:c.952T>A commonName Tyr 318 Asn RISN_RPE65:c.952T>A protEffect p.Tyr318Asn RISN_RPE65:c.962dupA commonName 962insA RISN_RPE65:c.962dupA phenoCommon LCA RISN_RPE65:c.978G>T commonName Val 326 Val RISN_RPE65:c.978G>T protEffect p.Val326Val RISN_RPE65:c.989G>A commonName Cys 330 Tyr RISN_RPE65:c.989G>A phenoCommon LCA RISN_RPE65:c.989G>A protEffect p.Cys330Tyr RISN_RPE65:c.1022T>C commonName Leu 341 Ser RISN_RPE65:c.1022T>C phenoCommon ARRP RISN_RPE65:c.1022T>C protEffect p.Leu341Ser RISN_RPE65:c.1046_1047insTGG commonName 1047insTGG RISN_RPE65:c.1046_1047insTGG phenoCommon LCA RISN_RPE65:c.1053A>G commonName Glu 351 Glu RISN_RPE65:c.1053A>G protEffect p.Glu351Glu RISN_RPE65:c.1056G>A commonName Glu 352 Glu RISN_RPE65:c.1056G>A protEffect p.Glu352Glu RISN_RPE65:c.1060delA commonName 1060delA RISN_RPE65:c.1060delA phenoCommon LCA RISN_RPE65:c.1068_1069ins1 commonName 1069ins1bp RISN_RPE65:c.1068_1069ins1 phenoCommon LCA RISN_RPE65:c.1078G>C commonName Ala 360 Pro RISN_RPE65:c.1078G>C protEffect p.Ala360Pro RISN_RPE65:c.1102T>C commonName Tyr 368 His RISN_RPE65:c.1102T>C phenoCommon RCD, early onset RISN_RPE65:c.1102T>C protEffect p.Tyr368His RISN_RPE65:c.1103A>G commonName Tyr 368 Cys RISN_RPE65:c.1103A>G protEffect p.Tyr368Cys RISN_RPE65:c.1120delA commonName 1120delA RISN_RPE65:c.1120delA phenoCommon LCA RISN_RPE65:c.1155G>A commonName Thr 385 Thr RISN_RPE65:c.1155G>A protEffect p.Thr385Thr RISN_RPE65:c.1178C>G commonName Ala 393 Gly RISN_RPE65:c.1178C>G phenoCommon LCA RISN_RPE65:c.1178C>G protEffect p.Ala393Gly RISN_RPE65:c.1207_1210dupCTGG commonName 1207dupCTGG RISN_RPE65:c.1207_1210dupCTGG phenoCommon ARRP RISN_RPE65:c.1208T>C commonName Leu 403 Pro RISN_RPE65:c.1208T>C protEffect p.Leu403Pro RISN_RPE65:c.1220T>C commonName Val 407 Ala RISN_RPE65:c.1220T>C phenoCommon Rare Variant RISN_RPE65:c.1220T>C protEffect p.Val407Ala RISN_RPE65:c.1223T>C commonName Leu 408 Pro RISN_RPE65:c.1223T>C protEffect p.Leu408Pro RISN_RPE65:c.1249G>C commonName Glu 417 Gln RISN_RPE65:c.1249G>C phenoCommon LCA RISN_RPE65:c.1249G>C protEffect p.Glu417Gln RISN_RPE65:c.1292A>G commonName Tyr 431 Cys RISN_RPE65:c.1292A>G protEffect p.Tyr431Cys RISN_RPE65:c.1301C>T commonName Ala 434 Val RISN_RPE65:c.1301C>T phenoCommon LCA RISN_RPE65:c.1301C>T protEffect p.Ala434Val RISN_RPE65:c.1302G>C commonName Ala 434 Ala RISN_RPE65:c.1302G>C protEffect p.Ala434Ala RISN_RPE65:c.1304A>G commonName Tyr 435 Cys RISN_RPE65:c.1304A>G phenoCommon LCA RISN_RPE65:c.1304A>G protEffect p.Tyr435Cys RISN_RPE65:c.1307G>T commonName Gly 436 Val RISN_RPE65:c.1307G>T phenoCommon LCA RISN_RPE65:c.1307G>T protEffect p.Gly436Val RISN_RPE65:c.1338+20A>C commonName IVS12+20a/c RISN_RPE65:c.1350G>T commonName Leu 450 Arg RISN_RPE65:c.1350G>T phenoCommon LCA RISN_RPE65:c.1350G>T protEffect p.Leu450Arg RISN_RPE65:c.1355T>G commonName Val 452 Gly RISN_RPE65:c.1355T>G phenoCommon ARRP RISN_RPE65:c.1355T>G protEffect p.Val452Gly RISN_RPE65:c.1370C>A commonName Thr 457 Asn RISN_RPE65:c.1370C>A phenoCommon LCA RISN_RPE65:c.1370C>A protEffect p.Thr457Asn RISN_RPE65:c.1384G>T commonName Glu 462 ter RISN_RPE65:c.1384G>T phenoCommon LCA RISN_RPE65:c.1384G>T protEffect p.Glu462X RISN_RPE65:c.1418T>A commonName Val 473 Asp RISN_RPE65:c.1418T>A phenoCommon LCA RISN_RPE65:c.1418T>A protEffect p.Val473Asp RISN_RPE65:c.1451G>A commonName Gly 484 Asp RISN_RPE65:c.1451G>A protEffect p.Gly484Asp RISN_RPE65:c.1451-22C>T commonName IVS13-22c/t RISN_RPE65:c.1543C>T commonName Arg 515 Trp RISN_RPE65:c.1543C>T phenoCommon LCA RISN_RPE65:c.1543C>T protEffect p.Arg515Trp RISN_RPE65:c.1559T>C commonName Ile 520 Thr RISN_RPE65:c.1559T>C protEffect p.Ile520Thr RISN_RPE65:c.1590delC commonName 1590delC RISN_AIPL1:c.1053_1064del commonName 1053del12bp RISN_AIPL1:c.1053_1064del phenoCommon adCRD RISN_AIPL1:c.97-9G>A commonName IVS1-9g-a RISN_AIPL1:c.276+66G>C commonName IVS2+66g-c RISN_AIPL1:c.277-88C>T commonName IVS2-88c-t RISN_AIPL1:c.277-14G>A commonName IVS2-14g-a RISN_AIPL1:c.277-10A>C commonName IVS2-10a-c RISN_AIPL1:c.466-25C>T commonName IVS3-25c-t RISN_AIPL1:c.466-22T>C commonName IVS3-22t-c RISN_AIPL1:c.784+18G>A commonName IVS5+18g-a RISN_AIPL1:c.268G>C commonName Asp 90 His RISN_AIPL1:c.268G>C phenoCommon Benign Variant RISN_AIPL1:c.268G>C protEffect p.Asp90His RISN_AIPL1:c.157C>T commonName Arg 53 Trp RISN_AIPL1:c.157C>T phenoCommon LCA4 RISN_AIPL1:c.157C>T protEffect p.Arg53Trp RISN_AIPL1:c.236T>C commonName Met 79 Thr RISN_AIPL1:c.236T>C phenoCommon LCA4 RISN_AIPL1:c.236T>C protEffect p.Met79Thr RISN_AIPL1:c.264G>A commonName Trp 88 ter RISN_AIPL1:c.264G>A phenoCommon LCA4 RISN_AIPL1:c.264G>A protEffect p.Trp88X RISN_AIPL1:c.277-2A>G commonName IVS2-2a-g RISN_AIPL1:c.277-2A>G phenoCommon LCA4 RISN_AIPL1:c.286G>A commonName Val 96 Ile RISN_AIPL1:c.286G>A phenoCommon LCA4 RISN_AIPL1:c.286G>A protEffect p.Val96Ile RISN_AIPL1:c.341C>T commonName Thr 114 Ile RISN_AIPL1:c.341C>T phenoCommon LCA4 RISN_AIPL1:c.341C>T protEffect p.Thr114Ile RISN_AIPL1:c.487C>T commonName Gln163 ter RISN_AIPL1:c.487C>T phenoCommon LCA4 RISN_AIPL1:c.487C>T protEffect p.Gln163X RISN_AIPL1:c.589G>C commonName Ala 197 Pro RISN_AIPL1:c.589G>C phenoCommon LCA4 RISN_AIPL1:c.589G>C protEffect p.Ala197Pro RISN_AIPL1:c.617T>A commonName Ile 206 Asn RISN_AIPL1:c.617T>A phenoCommon LCA4 RISN_AIPL1:c.617T>A protEffect p.Ile206Asn RISN_AIPL1:c.715T>C commonName Cys 239 Arg RISN_AIPL1:c.715T>C phenoCommon LCA4 RISN_AIPL1:c.715T>C protEffect p.Cys239Arg RISN_AIPL1:c.784G>A commonName Gly 262 Ser RISN_AIPL1:c.784G>A phenoCommon LCA4 RISN_AIPL1:c.784G>A protEffect p.Gly262Ser RISN_AIPL1:c.834G>A commonName Trp 278 ter RISN_AIPL1:c.834G>A phenoCommon LCA4 RISN_AIPL1:c.834G>A protEffect p.Trp278X RISN_AIPL1:c.905G>T commonName Arg 302 Leu RISN_AIPL1:c.905G>T phenoCommon LCA4 RISN_AIPL1:c.905G>T protEffect p.Arg302Leu RISN_AIPL1:c.1010_1011delAG commonName 1010delAG RISN_AIPL1:c.1010_1011delAG phenoCommon LCA4 RISN_AIPL1:c.1126C>T commonName Pro 376 Ser RISN_AIPL1:c.1126C>T phenoCommon LCA4 RISN_AIPL1:c.1126C>T protEffect p.Pro376Ser RISN_AIPL1:c.111C>T commonName Phe 37 Phe RISN_AIPL1:c.111C>T protEffect p.Phe37Phe RISN_AIPL1:c.234C>T commonName Ser 78 Ser RISN_AIPL1:c.234C>T protEffect p.Ser78Ser RISN_AIPL1:c.267C>T commonName Cys 89 Cys RISN_AIPL1:c.267C>T protEffect p.Cys89Cys RISN_AIPL1:c.516T>C commonName His 172 His RISN_AIPL1:c.516T>C protEffect p.His172His RISN_AIPL1:c.651A>G commonName Pro 217 Pro RISN_AIPL1:c.651A>G protEffect p.Pro217Pro RISN_AIPL1:c.765T>C commonName Asp 255 Asp RISN_AIPL1:c.765T>C protEffect p.Asp255Asp RISN_NYX:c.556_605delins3 commonName 556del50ins3bp RISN_NYX:c.556_605delins3 phenoCommon CSNB1 RISN_NYX:c.85_108del commonName 85del24bp RISN_NYX:c.85_108del phenoCommon CSNB1 RISN_NYX:c.92G>C commonName Cys 31 Ser RISN_NYX:c.92G>C phenoCommon CSNB1 RISN_NYX:c.92G>C protEffect p.Cys31Ser RISN_NYX:c.105C>A commonName Cys 31 ter RISN_NYX:c.105C>A phenoCommon CSNB1 RISN_NYX:c.105C>A protEffect p.Cys31X RISN_NYX:c.340_354del commonName 340del15bp RISN_NYX:c.340_354del phenoCommon CSNB1 RISN_NYX:c.427G>C commonName Ala 143 Pro RISN_NYX:c.427G>C phenoCommon CSNB1 RISN_NYX:c.427G>C protEffect p.Ala143Pro RISN_NYX:c.452C>T commonName Pro 151 Leu RISN_NYX:c.452C>T phenoCommon CSNB1 RISN_NYX:c.452C>T protEffect p.Pro151Leu RISN_NYX:c.463_464ins21 commonName 464ins21bp RISN_NYX:c.463_464ins21 phenoCommon CSNB1 RISN_NYX:c.524C>G commonName Pro 175 Arg RISN_NYX:c.524C>G phenoCommon CSNB1 RISN_NYX:c.524C>G protEffect p.Pro175Arg RISN_NYX:c.551T>C commonName Leu 184 Pro RISN_NYX:c.551T>C phenoCommon CSNB1 RISN_NYX:c.551T>C protEffect p.Leu184Pro RISN_NYX:c.559_560delinsAA commonName Ala 187 Lys RISN_NYX:c.559_560delinsAA phenoCommon CSNB1 RISN_NYX:c.559_560delinsAA protEffect p.Ala187Lys RISN_NYX:c.618_619ins9 commonName 619ins9bp RISN_NYX:c.618_619ins9 phenoCommon CSNB1 RISN_NYX:c.620_621ins9 commonName 207ins9bp RISN_NYX:c.620_621ins9 phenoCommon CSNB1 RISN_NYX:c.627_628ins9 commonName 628ins9bp RISN_NYX:c.627_628ins9 phenoCommon CSNB1 RISN_NYX:c.638T>A commonName Leu 213 Gln RISN_NYX:c.638T>A phenoCommon CSNB1 RISN_NYX:c.638T>A protEffect p.Leu213Gln RISN_NYX:c.647A>T commonName Asn 216 Ser RISN_NYX:c.647A>T phenoCommon CSNB1 RISN_NYX:c.647A>T protEffect p.Asn216Ser RISN_NYX:c.695T>C commonName Leu 232 Pro RISN_NYX:c.695T>C phenoCommon CSNB1 RISN_NYX:c.695T>C protEffect p.Leu232Pro RISN_NYX:c.727_738del commonName 243del12bp RISN_NYX:c.727_738del phenoCommon CSNB1 RISN_NYX:c.792C>G commonName Asn 264 Lys RISN_NYX:c.792C>G phenoCommon CSNB1 RISN_NYX:c.792C>G protEffect p.Asn264Lys RISN_NYX:c.854T>C commonName Leu 285 Pro RISN_NYX:c.854T>C phenoCommon CSNB1 RISN_NYX:c.854T>C protEffect p.Leu285Pro RISN_NYX:c.893T>C commonName Phe 298 Ser RISN_NYX:c.893T>C phenoCommon CSNB1 RISN_NYX:c.893T>C protEffect p.Phe298Ser RISN_NYX:c.935A>G commonName Asn 321 Ser RISN_NYX:c.935A>G phenoCommon CSNB1 RISN_NYX:c.935A>G protEffect p.Asn321Ser RISN_NYX:c.1040T>C commonName Leu 347 Pro RISN_NYX:c.1040T>C phenoCommon CSNB1 RISN_NYX:c.1040T>C protEffect p.Leu347Pro RISN_NYX:c.1049G>A commonName Trp 350 ter RISN_NYX:c.1049G>A phenoCommon CSNB1 RISN_NYX:c.1049G>A protEffect p.Trp350X RISN_NYX:c.1109G>T commonName Gly 370 Val RISN_NYX:c.1109G>T phenoCommon CSNB1 RISN_NYX:c.1109G>T protEffect p.Gly370Val RISN_BBS4:c.157-2A>G commonName IVS3-2A-G RISN_BBS4:c.157-2A>G phenoCommon BBS4 RISN_BBS4:p.Asn165His commonName Asn 165 His RISN_BBS4:p.Asn165His phenoCommon BBS4 RISN_BBS4:p.Asn165His protEffect p.Asn165His RISN_BBS4:p.Ser457Ile commonName Ser 457 Ile RISN_BBS4:p.Ser457Ile phenoCommon BBS4 RISN_BBS4:p.Ser457Ile protEffect p.Ser457Ile RISN_BBS4:c.52_195del commonName 53del144bp RISN_BBS4:c.52_195del phenoCommon BBS4 RISN_BBS4:c.220+1G>C commonName IVS4+1G-C RISN_BBS4:c.220+1G>C phenoCommon BBS4 RISN_BBS4:c.460-2A>C commonName IVS7-2A-C RISN_BBS4:c.460-2A>C phenoCommon BBS4 RISN_BBS4:c.584_585insTG commonName 585insTG RISN_BBS4:c.584_585insTG phenoCommon BBS4 RISN_BBS4:c.884G>C commonName Arg 295 Pro RISN_BBS4:c.884G>C phenoCommon BBS4 RISN_BBS4:c.884G>C protEffect p.Arg295Pro RISN_BBS4:c.24+42G>A commonName IVS1+42g/a RISN_BBS4:c.77-6A>G commonName IVS2-6a/g RISN_BBS4:c.220+91G>A commonName IVS4+91g/a RISN_BBS4:c.332+27_332+28insA commonName IVS5+28insA RISN_BBS4:c.405+17C>T commonName IVS6+17c/t RISN_BBS4:c.1106+20C>T commonName IVS13+20c/t RISN_BBS4:c.1450+18C>T commonName IVS15+18c/t RISN_BBS4:c.1451-45C>T commonName IVS15-45c/t RISN_BBS4:c.-17C>A commonName -17C/A RISN_BBS4:c.1061T>C commonName 1061C/T RISN_BBS4:c.1560*1G>C commonName 1561G/C RISN_VMD2:c.16A>C commonName Thr 6 Pro RISN_VMD2:c.16A>C phenoCommon VMD2 RISN_VMD2:c.16A>C protEffect p.Thr6Pro RISN_VMD2:c.17C>G commonName Thr 6 Arg RISN_VMD2:c.17C>G phenoCommon VMD2 RISN_VMD2:c.17C>G protEffect p.Thr6Arg RISN_VMD2:c.25G>A commonName Val 9 Met RISN_VMD2:c.25G>A phenoCommon VMD2 RISN_VMD2:c.25G>A protEffect p.Val9Met RISN_VMD2:c.26T>C commonName Val 9 Ala RISN_VMD2:c.26T>C phenoCommon VMD2 RISN_VMD2:c.26T>C protEffect p.Val9Ala RISN_VMD2:c.28G>A commonName Ala 10 Thr RISN_VMD2:c.28G>A phenoCommon VMD2 RISN_VMD2:c.28G>A protEffect p.Ala10Thr RISN_VMD2:c.29C>T commonName Ala 10 Val RISN_VMD2:c.29C>T phenoCommon VMD2 RISN_VMD2:c.29C>T protEffect p.Ala10Val RISN_VMD2:c.32A>T commonName Asn 11 Ile RISN_VMD2:c.32A>T phenoCommon VMD2 RISN_VMD2:c.32A>T protEffect p.Asn11Ile RISN_VMD2:c.38G>A commonName Arg 13 His RISN_VMD2:c.38G>A phenoCommon VMD2 RISN_VMD2:c.38G>A protEffect p.Arg13His RISN_VMD2:c.47C>T commonName Ser 16 Phe RISN_VMD2:c.47C>T phenoCommon VMD2 RISN_VMD2:c.47C>T protEffect p.Ser16Phe RISN_VMD2:c.50T>G commonName Phe 17 Cys RISN_VMD2:c.50T>G phenoCommon VMD2 RISN_VMD2:c.50T>G protEffect p.Phe17Cys RISN_VMD2:c.61C>G commonName Leu 21 Val RISN_VMD2:c.61C>G phenoCommon VMD2 RISN_VMD2:c.61C>G protEffect p.Leu21Val RISN_VMD2:c.72G>T commonName Trp 24 Cys RISN_VMD2:c.72G>T phenoCommon VMD2 RISN_VMD2:c.72G>T protEffect p.Trp24Cys RISN_VMD2:c.73C>T commonName Arg 25 Trp RISN_VMD2:c.73C>T phenoCommon VMD2 RISN_VMD2:c.73C>T protEffect p.Arg25Trp RISN_VMD2:c.74G>A commonName Arg 25 Gln RISN_VMD2:c.74G>A phenoCommon VMD2 RISN_VMD2:c.74G>A protEffect p.Arg25Gln RISN_VMD2:c.81C>G commonName Ser 27 Arg RISN_VMD2:c.81C>G phenoCommon VMD2 RISN_VMD2:c.81C>G protEffect p.Ser27Arg RISN_VMD2:c.85T>C commonName Tyr 29 His RISN_VMD2:c.85T>C phenoCommon VMD2 RISN_VMD2:c.85T>C protEffect p.Tyr29His RISN_VMD2:c.89A>G commonName Lys 30 Arg RISN_VMD2:c.89A>G phenoCommon VMD2 RISN_VMD2:c.89A>G protEffect p.Lys30Arg RISN_VMD2:c.122T>C commonName Leu 41 Pro RISN_VMD2:c.122T>C phenoCommon VMD2 RISN_VMD2:c.122T>C protEffect p.Leu41Pro RISN_VMD2:c.176A>T commonName Gln 58 Leu RISN_VMD2:c.176A>T phenoCommon VMD2 RISN_VMD2:c.176A>T protEffect p.Gln58Leu RISN_VMD2:c.217A>C commonName Ile 73 Val RISN_VMD2:c.217A>C phenoCommon VMD2 RISN_VMD2:c.217A>C protEffect p.Ile73Val RISN_VMD2:c.240C>A commonName Phe 80 Leu RISN_VMD2:c.240C>A phenoCommon VMD2 RISN_VMD2:c.240C>A protEffect p.Phe80Leu RISN_VMD2:c.243G>C commonName Leu 82 Val RISN_VMD2:c.243G>C phenoCommon VMD2 RISN_VMD2:c.243G>C protEffect p.Leu82Val RISN_VMD2:c.253T>C commonName Tyr 85 His RISN_VMD2:c.253T>C phenoCommon VMD2 RISN_VMD2:c.253T>C protEffect p.Tyr85His RISN_VMD2:c.272C>T commonName Thr 91 Ile RISN_VMD2:c.272C>T phenoCommon VMD2 RISN_VMD2:c.272C>T protEffect p.Thr91Ile RISN_VMD2:c.274C>T commonName Arg 92 Cys RISN_VMD2:c.274C>T phenoCommon VMD2 RISN_VMD2:c.274C>T protEffect p.Arg92Cys RISN_VMD2:c.274C>A commonName Arg 92 Ser RISN_VMD2:c.274C>A phenoCommon VMD2 RISN_VMD2:c.274C>A protEffect p.Arg92Ser RISN_VMD2:c.275G>A commonName Arg 92 His RISN_VMD2:c.275G>A phenoCommon VMD2 RISN_VMD2:c.275G>A protEffect p.Arg92His RISN_VMD2:c.279G>C commonName Trp 93 Cys RISN_VMD2:c.279G>C phenoCommon VMD2 RISN_VMD2:c.279G>C protEffect p.Trp93Cys RISN_VMD2:c.288G>C commonName Gln 96 His RISN_VMD2:c.288G>C phenoCommon VMD2 RISN_VMD2:c.288G>C protEffect p.Gln96His RISN_VMD2:c.297C>A commonName Asn 99 Lys RISN_VMD2:c.297C>A phenoCommon VMD2 RISN_VMD2:c.297C>A protEffect p.Asn99Lys RISN_VMD2:c.299T>G commonName Leu 100 Arg RISN_VMD2:c.299T>G phenoCommon VMD2 RISN_VMD2:c.299T>G protEffect p.Leu100Arg RISN_VMD2:c.301C>A commonName Pro 101 Thr RISN_VMD2:c.301C>A phenoCommon VMD2 RISN_VMD2:c.301C>A protEffect p.Pro101Thr RISN_VMD2:c.304T>C commonName Trp 102 Arg RISN_VMD2:c.304T>C phenoCommon VMD2 RISN_VMD2:c.304T>C protEffect p.Trp102Arg RISN_VMD2:c.310G>C commonName Asp 104 His RISN_VMD2:c.310G>C phenoCommon VMD2 RISN_VMD2:c.310G>C protEffect p.Asp104His RISN_VMD2:c.312C>A commonName Asp 104 Glu RISN_VMD2:c.312C>A phenoCommon VMD2 RISN_VMD2:c.312C>A protEffect p.Asp104Glu RISN_VMD2:c.399C>G commonName Asn 133 Lys RISN_VMD2:c.399C>G phenoCommon VMD2 RISN_VMD2:c.399C>G protEffect p.Asn133Lys RISN_VMD2:c.403G>A commonName Gly 135 Ser RISN_VMD2:c.403G>A phenoCommon VMD2 RISN_VMD2:c.403G>A protEffect p.Gly135Ser RISN_VMD2:c.419T>G commonName Leu 140 Arg RISN_VMD2:c.419T>G phenoCommon VMD2 RISN_VMD2:c.419T>G protEffect p.Leu140Arg RISN_VMD2:c.421C>A commonName Arg 141 Ser RISN_VMD2:c.421C>A phenoCommon VMD2 RISN_VMD2:c.421C>A protEffect p.Arg141Ser RISN_VMD2:c.422G>A commonName Arg 141 His RISN_VMD2:c.422G>A phenoCommon VMD2 RISN_VMD2:c.422G>A protEffect p.Arg141His RISN_VMD2:c.584C>T commonName Ala 195 Val RISN_VMD2:c.584C>T phenoCommon VMD2 RISN_VMD2:c.584C>T protEffect p.Ala195Val RISN_VMD2:c.602T>C commonName Ile 201 Thr RISN_VMD2:c.602T>C phenoCommon VMD2 RISN_VMD2:c.602T>C protEffect p.Ile201Thr RISN_VMD2:c.619C>A commonName Leu 207 Ile RISN_VMD2:c.619C>A phenoCommon VMD2 RISN_VMD2:c.619C>A protEffect p.Leu207Ile RISN_VMD2:c.626G>A commonName Ser 209 Asn RISN_VMD2:c.626G>A phenoCommon VMD2 RISN_VMD2:c.626G>A protEffect p.Ser209Asn RISN_VMD2:c.636+1G>C commonName IVS5+1g-c RISN_VMD2:c.636+1G>C phenoCommon VMD2 RISN_VMD2:c.652C>A commonName Arg 218 Ser RISN_VMD2:c.652C>A phenoCommon VMD2 RISN_VMD2:c.652C>A protEffect p.Arg218Ser RISN_VMD2:c.652C>T commonName Arg 218 Cys RISN_VMD2:c.652C>T phenoCommon VMD2 RISN_VMD2:c.652C>T protEffect p.Arg218Cys RISN_VMD2:c.653G>A commonName Arg 218 His RISN_VMD2:c.653G>A phenoCommon VMD2 RISN_VMD2:c.653G>A protEffect p.Arg218His RISN_VMD2:c.663T>G commonName Cys 221 Trp RISN_VMD2:c.663T>G phenoCommon VMD2 RISN_VMD2:c.663T>G protEffect p.Cys221Trp RISN_VMD2:c.665G>T commonName Gly 222 Val RISN_VMD2:c.665G>T phenoCommon VMD2 RISN_VMD2:c.665G>T protEffect p.Gly222Val RISN_VMD2:c.670C>A commonName Leu 224 Met RISN_VMD2:c.670C>A phenoCommon VMD2 RISN_VMD2:c.670C>A protEffect p.Leu224Met RISN_VMD2:c.671T>C commonName Leu 224 Pro RISN_VMD2:c.671T>C phenoCommon VMD2 RISN_VMD2:c.671T>C protEffect p.Leu224Pro RISN_VMD2:c.679T>A commonName Tyr 227 Asn RISN_VMD2:c.679T>A phenoCommon VMD2 RISN_VMD2:c.679T>A protEffect p.Tyr227Asn RISN_VMD2:c.680A>G commonName Tyr 227 Cys RISN_VMD2:c.680A>G phenoCommon VMD2 RISN_VMD2:c.680A>G protEffect p.Tyr227Cys RISN_VMD2:c.693T>G commonName Ser 231 Arg RISN_VMD2:c.693T>G phenoCommon VMD2 RISN_VMD2:c.693T>G protEffect p.Ser231Arg RISN_VMD2:c.703G>C commonName Val 235 Leu RISN_VMD2:c.703G>C phenoCommon VMD2 RISN_VMD2:c.703G>C protEffect p.Val235Leu RISN_VMD2:c.703G>A commonName Val 235 Met RISN_VMD2:c.703G>A phenoCommon VMD2 RISN_VMD2:c.703G>A protEffect p.Val235Met RISN_VMD2:c.710C>G commonName Thr 237 Arg RISN_VMD2:c.710C>G phenoCommon VMD2 RISN_VMD2:c.710C>G protEffect p.Thr237Arg RISN_VMD2:c.722C>A commonName Thr 241 Asn RISN_VMD2:c.722C>A phenoCommon VMD2 RISN_VMD2:c.722C>A protEffect p.Thr241Asn RISN_VMD2:c.727G>A commonName Ala 243 Thr RISN_VMD2:c.727G>A phenoCommon VMD2 RISN_VMD2:c.727G>A protEffect p.Ala243Thr RISN_VMD2:c.728C>T commonName Ala 243 Val RISN_VMD2:c.728C>T phenoCommon VMD2 RISN_VMD2:c.728C>T protEffect p.Ala243Val RISN_VMD2:c.828C>G commonName Phe 276 Leu RISN_VMD2:c.828C>G phenoCommon VMD2 RISN_VMD2:c.828C>G protEffect p.Phe276Leu RISN_VMD2:c.841_843delTTC commonName 929delTTC RISN_VMD2:c.841_843delTTC phenoCommon VMD2 RISN_VMD2:c.877C>A commonName Gln 293 Lys RISN_VMD2:c.877C>A phenoCommon VMD2 RISN_VMD2:c.877C>A protEffect p.Gln293Lys RISN_VMD2:c.880C>G commonName Leu 294 Val RISN_VMD2:c.880C>G phenoCommon VMD2 RISN_VMD2:c.880C>G protEffect p.Leu294Val RISN_VMD2:c.881_883delTCA commonName 969delTCA RISN_VMD2:c.881_883delTCA phenoCommon VMD2 RISN_VMD2:c.884T>C commonName Ile 295 Thr RISN_VMD2:c.884T>C phenoCommon VMD2 RISN_VMD2:c.884T>C protEffect p.Ile295Thr RISN_VMD2:c.886A>C commonName Asn 296 His RISN_VMD2:c.886A>C phenoCommon VMD2 RISN_VMD2:c.886A>C protEffect p.Asn296His RISN_VMD2:c.887A>G commonName Asn 296 Ser RISN_VMD2:c.887A>G phenoCommon VMD2 RISN_VMD2:c.887A>G protEffect p.Asn296Ser RISN_VMD2:c.889C>G commonName Pro 297 Ala RISN_VMD2:c.889C>G phenoCommon VMD2 RISN_VMD2:c.889C>G protEffect p.Pro297Ala RISN_VMD2:c.891C>T commonName Pro 297 Ser RISN_VMD2:c.891C>T phenoCommon VMD2 RISN_VMD2:c.891C>T protEffect p.Pro297Ser RISN_VMD2:c.893T>C commonName Phe 298 Ser RISN_VMD2:c.893T>C phenoCommon VMD2 RISN_VMD2:c.893T>C protEffect p.Phe298Ser RISN_VMD2:c.896G>A commonName Gly 299 Glu RISN_VMD2:c.896G>A phenoCommon VMD2 RISN_VMD2:c.896G>A protEffect p.Gly299Glu RISN_VMD2:c.898G>A commonName Glu 300 Lys RISN_VMD2:c.898G>A phenoCommon VMD2 RISN_VMD2:c.898G>A protEffect p.Glu300Lys RISN_VMD2:c.900G>C commonName Glu 300 Asp RISN_VMD2:c.900G>C phenoCommon VMD2 RISN_VMD2:c.900G>C protEffect p.Glu300Asp RISN_VMD2:c.901G>A commonName Asp 301 Asn RISN_VMD2:c.901G>A phenoCommon VMD2 RISN_VMD2:c.901G>A protEffect p.Asp301Asn RISN_VMD2:c.901_903delGAT commonName 989delGAT RISN_VMD2:c.901_903delGAT phenoCommon VMD2 RISN_VMD2:c.903T>G commonName Asp 301 Glu RISN_VMD2:c.903T>G phenoCommon VMD2 RISN_VMD2:c.903T>G protEffect p.Asp301Glu RISN_VMD2:c.904G>C commonName Asp 302 His RISN_VMD2:c.904G>C phenoCommon VMD2 RISN_VMD2:c.904G>C protEffect p.Asp302His RISN_VMD2:c.905A>T commonName Asp 302 Val RISN_VMD2:c.905A>T phenoCommon VMD2 RISN_VMD2:c.905A>T protEffect p.Asp302Val RISN_VMD2:c.905A>G commonName Asp 302 Gly RISN_VMD2:c.905A>G phenoCommon VMD2 RISN_VMD2:c.905A>G protEffect p.Asp302Gly RISN_VMD2:c.909T>A commonName Asp 303 Glu RISN_VMD2:c.909T>A phenoCommon VMD2 RISN_VMD2:c.909T>A protEffect p.Asp303Glu RISN_VMD2:c.914T>C commonName Phe 305 Ser RISN_VMD2:c.914T>C phenoCommon VMD2 RISN_VMD2:c.914T>C protEffect p.Phe305Ser RISN_VMD2:c.917A>G commonName Glu 306 Gly RISN_VMD2:c.917A>G phenoCommon VMD2 RISN_VMD2:c.917A>G protEffect p.Glu306Gly RISN_VMD2:c.918G>C commonName Glu 306 Asp RISN_VMD2:c.918G>C phenoCommon VMD2 RISN_VMD2:c.918G>C protEffect p.Glu306Asp RISN_VMD2:c.919A>G commonName Thr 307 Ala RISN_VMD2:c.919A>G phenoCommon VMD2 RISN_VMD2:c.919A>G protEffect p.Thr307Ala RISN_VMD2:c.920C>T commonName Thr 307 Ile RISN_VMD2:c.920C>T phenoCommon VMD2 RISN_VMD2:c.920C>T protEffect p.Thr307Ile RISN_VMD2:c.923A>G commonName Asn 308 His RISN_VMD2:c.923A>G phenoCommon VMD2 RISN_VMD2:c.923A>G protEffect p.Asn308His RISN_VMD2:c.929T>C commonName Ile 310 Thr RISN_VMD2:c.929T>C phenoCommon VMD2 RISN_VMD2:c.929T>C protEffect p.Ile310Thr RISN_VMD2:c.1468_1469delCA commonName 1556delCA RISN_VMD2:c.1468_1469delCA phenoCommon VMD2 RISN_VMD2:c.313C>T commonName Arg 105 Cys RISN_VMD2:c.313C>T phenoCommon AMD RISN_VMD2:c.313C>T protEffect p.Arg105Cys RISN_VMD2:c.355G>C commonName Glu 119 Gln RISN_VMD2:c.355G>C phenoCommon AMD RISN_VMD2:c.355G>C protEffect p.Glu119Gln RISN_VMD2:c.445A>T commonName Lys 149 ter RISN_VMD2:c.445A>T phenoCommon AMD RISN_VMD2:c.445A>T protEffect p.Lys149X RISN_VMD2:c.647C>T commonName Thr 216 Ile RISN_VMD2:c.647C>T phenoCommon AMD RISN_VMD2:c.647C>T protEffect p.Thr216Ile RISN_VMD2:c.823G>A commonName Val 275 Ile RISN_VMD2:c.823G>A phenoCommon AMD RISN_VMD2:c.823G>A protEffect p.Val275Ile RISN_VMD2:c.1699C>T commonName Leu 567 Phe RISN_VMD2:c.1699C>T phenoCommon AMD RISN_VMD2:c.1699C>T protEffect p.Leu567Phe RISN_VMD2:c.140G>A commonName Arg 47 His RISN_VMD2:c.140G>A phenoCommon AVMD RISN_VMD2:c.140G>A protEffect p.Arg47His RISN_VMD2:c.436_437delinsAA commonName Ala 146 Lys RISN_VMD2:c.436_437delinsAA phenoCommon AVMD RISN_VMD2:c.436_437delinsAA protEffect p.Ala146Lys RISN_VMD2:c.934G>A commonName Asp 312 Asn RISN_VMD2:c.934G>A phenoCommon AVMD RISN_VMD2:c.934G>A protEffect p.Asp312Asn RISN_VMD2:c.933C>T commonName Val 311 Val RISN_VMD2:c.933C>T phenoCommon Polymoprhism RISN_VMD2:c.933C>T protEffect p.Val311Val RISN_VMD2:c.33T>C commonName 33C/T RISN_VMD2:c.87C>T commonName Tyr 29 Tyr RISN_VMD2:c.87C>T protEffect p.Tyr29Tyr RISN_VMD2:c.109T>C commonName Leu 37 Leu RISN_VMD2:c.109T>C protEffect p.Leu37Leu RISN_VMD2:c.165G>A commonName Thr 55 Thr RISN_VMD2:c.165G>A protEffect p.Thr55Thr RISN_VMD2:c.201G>C commonName Leu 67 Leu RISN_VMD2:c.201G>C protEffect p.Leu67Leu RISN_VMD2:c.219C>A commonName Ile 73 Ile RISN_VMD2:c.219C>A protEffect p.Ile73Ile RISN_VMD2:c.222G>A commonName Gln 74 Gln RISN_VMD2:c.222G>A protEffect p.Gln74Gln RISN_VMD2:c.248-12C>T commonName IVS3-12c/t RISN_VMD2:c.248-32C>T commonName IVS3-32c/t RISN_VMD2:c.248-17C>T commonName IVS3-17c/t RISN_VMD2:c.248-26C>T commonName IVS3-26c/t RISN_VMD2:c.482-24C>T commonName IVS4-24c/t RISN_VMD2:c.624G>A commonName Gln 208 Gln RISN_VMD2:c.624G>A protEffect p.Gln208Gln RISN_VMD2:c.637-6C>T commonName IVS5-6c/t RISN_VMD2:c.654T>C commonName Arg 218 Arg RISN_VMD2:c.654T>C protEffect p.Arg218Arg RISN_VMD2:c.696C>A commonName Ile 232 Ile RISN_VMD2:c.696C>A protEffect p.Ile232Ile RISN_VMD2:c.715-27TCC[5] commonName IVS6-27del(TCC)3 RISN_VMD2:c.715-26_715-27insTCC commonName IVS6-27insTCC RISN_VMD2:c.715-27TCC[6] commonName IVS6-27del(TCC)2 RISN_VMD2:c.720G>C commonName Val 240 Val RISN_VMD2:c.720G>C protEffect p.Val240Val RISN_VMD2:c.949-21delT commonName IVS8-21del t RISN_VMD2:c.1023C>T commonName Pro 341 Pro RISN_VMD2:c.1023C>T protEffect p.Pro341Pro RISN_VMD2:c.1026G>A commonName Glu 342 Glu RISN_VMD2:c.1026G>A protEffect p.Glu342Glu RISN_VMD2:c.1410A>G commonName Thr 470 Thr RISN_VMD2:c.1410A>G protEffect p.Thr470Thr RISN_VMD2:c.1557C>T commonName Ser 519 Ser RISN_VMD2:c.1557C>T protEffect p.Ser519Ser RISN_VMD2:c.1574A>C commonName Glu 525 Ala RISN_VMD2:c.1574A>C protEffect p.Glu525Ala RISN_VMD2:c.1608T>C commonName Thr 536 Thr RISN_VMD2:c.1608T>C protEffect p.Thr536Thr RISN_VMD2:c.1669G>A commonName Glu 557 Lys RISN_VMD2:c.1669G>A protEffect p.Glu557Lys RISN_VMD2:c.1681A>G commonName Thr 561 Ala RISN_VMD2:c.1681A>G protEffect p.Thr561Ala RISN_VMD2:c.1740-27T>C commonName IVS10-27t/c RISN_VMD2:c.1846_1847insG commonName 1935ins g RISN_BBS2:c.507+1G>C commonName IVS4+1G-C RISN_BBS2:c.507+1G>C phenoCommon BBS2 RISN_BBS2:p.Tyr24X commonName Tyr 24 ter RISN_BBS2:p.Tyr24X phenoCommon BBS2 RISN_BBS2:p.Tyr24X protEffect p.Tyr24X RISN_BBS2:p.Arg643Pro commonName Arg 643 Pro RISN_BBS2:p.Arg643Pro phenoCommon BBS2 RISN_BBS2:p.Arg643Pro protEffect p.Arg643Pro RISN_BBS2:c.224T>G commonName Val 75 Gly RISN_BBS2:c.224T>G phenoCommon BBS2 RISN_BBS2:c.224T>G protEffect p.Val75Gly RISN_BBS2:c.814C>T commonName Arg 272 ter RISN_BBS2:c.814C>T phenoCommon BBS2 RISN_BBS2:c.814C>T protEffect p.Arg272X RISN_BBS2:c.823C>T commonName Arg 275 ter RISN_BBS2:c.823C>T phenoCommon BBS2 RISN_BBS2:c.823C>T protEffect p.Arg275X RISN_BBS2:c.940delA commonName 940delA RISN_BBS2:c.940delA phenoCommon BBS2 RISN_BBS2:c.1206dupA commonName 1206insA RISN_BBS2:c.1206dupA phenoCommon BBS2 RISN_BBS2:c.1413A>C commonName Val 471 Val RISN_BBS2:c.1413A>C protEffect p.Val471Val RISN_CEP290:c.21G>T commonName Trp 7 Cys RISN_CEP290:c.21G>T phenoCommon JBTS RISN_CEP290:c.21G>T protEffect p.Trp7Cys RISN_CEP290:c.3175dupA commonName 3175insA RISN_CEP290:c.3175dupA phenoCommon JBTS RISN_CEP290:c.3176dupT commonName 3176insT RISN_CEP290:c.3176dupT phenoCommon JBTS RISN_CEP290:c.4656delA commonName 4656delA RISN_CEP290:c.4656delA phenoCommon JBTS RISN_CEP290:c.4732G>T commonName Glu 1578 ter RISN_CEP290:c.4732G>T phenoCommon JBTS RISN_CEP290:c.4732G>T protEffect p.Glu1578X RISN_CEP290:c.4771C>T commonName Gln 1597 ter RISN_CEP290:c.4771C>T phenoCommon JBTS RISN_CEP290:c.4771C>T protEffect p.Gln1597X RISN_CEP290:c.5424T>C commonName Gln 1942 ter RISN_CEP290:c.5424T>C phenoCommon JBTS RISN_CEP290:c.5424T>C protEffect p.Gln1942X RISN_CEP290:c.5515_5518delGAGA commonName 5515delGAGA RISN_CEP290:c.5515_5518delGAGA phenoCommon JBTS RISN_CEP290:c.5649dupA commonName 5649insA RISN_CEP290:c.5649dupA phenoCommon JBTS RISN_CEP290:c.5668G>T commonName Gly 1890 ter RISN_CEP290:c.5668G>T phenoCommon JBTS RISN_CEP290:c.5668G>T protEffect p.Gly1890X RISN_CEP290:c.6331C>T commonName Gln 2111 ter RISN_CEP290:c.6331C>T phenoCommon JBTS RISN_CEP290:c.6331C>T protEffect p.Gln2111X RISN_CEP290:c.7341dupA commonName 7341insA RISN_CEP290:c.7341dupA phenoCommon JBTS RISN_CEP290:c.181-1G>T commonName IVS3-1g>t RISN_CEP290:c.181-1G>T phenoCommon LCA10 RISN_CEP290:c.265dupA commonName 265insA RISN_CEP290:c.265dupA phenoCommon LCA10 RISN_CEP290:c.679_680delGA commonName 679delGA RISN_CEP290:c.679_680delGA phenoCommon LCA10 RISN_CEP290:c.1550delT commonName 1550delT RISN_CEP290:c.1550delT phenoCommon LCA10 RISN_CEP290:c.2118_2122dupTCAGC commonName 2118dupTCAGC RISN_CEP290:c.2118_2122dupTCAGC phenoCommon LCA10 RISN_CEP290:c.2991+1655A>G commonName IVS26+1655a>g RISN_CEP290:c.2991+1655A>G phenoCommon LCA10 RISN_CEP290:c.3814C>T commonName Arg 1272 ter RISN_CEP290:c.3814C>T phenoCommon LCA10 RISN_CEP290:c.3814C>T protEffect p.Arg1272X RISN_CEP290:c.4115_4116delTA commonName 4115delTA RISN_CEP290:c.4115_4116delTA phenoCommon LCA10 RISN_CEP290:c.4966G>T commonName Glu 1656 ter RISN_CEP290:c.4966G>T phenoCommon LCA10 RISN_CEP290:c.4966G>T protEffect p.Glu1656X RISN_CEP290:c.5813_5817delCTTTA commonName 5813delCTTTA RISN_CEP290:c.5813_5817delCTTTA phenoCommon LCA10 RISN_CEP290:c.2055T>C commonName Ala 685 Ala RISN_CEP290:c.2055T>C protEffect p.Ala685Ala RISN_CEP290:c.2218-4_2222del commonName IVS21-4del9bp RISN_CEP290:c.2218-4_2222del phenoCommon SLSN RISN_RDH5:c.103G>A commonName Gly 35 Ser RISN_RDH5:c.103G>A phenoCommon Fundus albipunctatus RISN_RDH5:c.103G>A protEffect p.Gly35Ser RISN_RDH5:c.128delT commonName 128delT RISN_RDH5:c.128delT phenoCommon Fundus albipunctatus RISN_RDH5:c.215_216insGTGG commonName 216insGTGG RISN_RDH5:c.215_216insGTGG phenoCommon Fundus albipunctatus RISN_RDH5:c.218C>T commonName Ser 73 Phe RISN_RDH5:c.218C>T phenoCommon Fundus albipunctatus RISN_RDH5:c.218C>T protEffect p.Ser73Phe RISN_RDH5:c.319G>C commonName Gly 107 Arg RISN_RDH5:c.319G>C phenoCommon Fundus albipunctatus RISN_RDH5:c.319G>C protEffect p.Gly107Arg RISN_RDH5:c.394G>A commonName Val 132 Met RISN_RDH5:c.394G>A phenoCommon Fundus albipunctatus RISN_RDH5:c.394G>A protEffect p.Val132Met RISN_RDH5:c.468C>T commonName Arg 157 Trp RISN_RDH5:c.468C>T phenoCommon Fundus albipunctatus RISN_RDH5:c.468C>T protEffect p.Arg157Trp RISN_RDH5:c.501C>G commonName Cys 267 Trp RISN_RDH5:c.501C>G phenoCommon Fundus albipunctatus RISN_RDH5:c.501C>G protEffect p.Cys267Trp RISN_RDH5:c.530T>G commonName Val 177 Gly RISN_RDH5:c.530T>G phenoCommon Fundus albipunctatus RISN_RDH5:c.530T>G protEffect p.Val177Gly RISN_RDH5:c.712G>T commonName Gly 238 Trp RISN_RDH5:c.712G>T phenoCommon Fundus albipunctatus RISN_RDH5:c.712G>T protEffect p.Gly238Trp RISN_RDH5:c.712dupG commonName 712insG RISN_RDH5:c.712dupG phenoCommon Fundus albipunctatus RISN_RDH5:c.839G>A commonName Arg 280 His RISN_RDH5:c.839G>A phenoCommon Fundus albipunctatus RISN_RDH5:c.839G>A protEffect p.Arg280His RISN_RDH5:c.841T>C commonName Tyr 281 His RISN_RDH5:c.841T>C phenoCommon Fundus albipunctatus RISN_RDH5:c.841T>C protEffect p.Tyr281His RISN_RDH5:c.880G>C commonName Ala 294 Pro RISN_RDH5:c.880G>C phenoCommon Fundus albipunctatus RISN_RDH5:c.880G>C protEffect p.Ala294Pro RISN_RDH5:c.928_928delinsGAAG commonName 928delCinsGAAG RISN_RDH5:c.928_928delinsGAAG phenoCommon Fundus albipunctatus RISN_RDH5:c.97A>G commonName Ile 33 Val RISN_RDH5:c.97A>G protEffect p.Ile33Val RISN_RDH5:c.423C>T commonName Ser 141 Ser RISN_RDH5:c.423C>T protEffect p.Ser141Ser RISN_RDH5:p.Val200Val commonName Val 200 Val RISN_RDH5:p.Val200Val protEffect p.Val200Val RISN_GRM6:c.19G>A commonName Ala 7 Thr RISN_GRM6:c.19G>A protEffect p.Ala7Thr RISN_GRM6:c.57_75dup commonName 57_75dup19bp RISN_GRM6:c.57_75dup phenoCommon CSNB RISN_GRM6:c.83G>A commonName Arg 28 His RISN_GRM6:c.83G>A protEffect p.Arg28His RISN_GRM6:c.137C>T commonName Pro 46 Leu RISN_GRM6:c.137C>T phenoCommon CSNB RISN_GRM6:c.137C>T protEffect p.Pro46Leu RISN_GRM6:c.172G>C commonName Gly 58 Arg RISN_GRM6:c.172G>C phenoCommon CSNB RISN_GRM6:c.172G>C protEffect p.Gly58Arg RISN_GRM6:c.176A>C commonName Pro 59 Gln RISN_GRM6:c.176A>C protEffect p.Pro59Gln RISN_GRM6:c.261C>T commonName Pro 87 Pro RISN_GRM6:c.261C>T protEffect p.Pro87Pro RISN_GRM6:c.336C>T commonName Phe 112 Phe RISN_GRM6:c.336C>T protEffect p.Phe112Phe RISN_GRM6:c.352C>A commonName Arg 118 Ser RISN_GRM6:c.352C>A protEffect p.Arg118Ser RISN_GRM6:c.448G>A commonName Gly 150 Ser RISN_GRM6:c.448G>A phenoCommon CSNB RISN_GRM6:c.448G>A protEffect p.Gly150Ser RISN_GRM6:c.504+66A>C commonName IVS1+66a>c RISN_GRM6:c.664G>A commonName Glu 222 Lys RISN_GRM6:c.664G>A protEffect p.Glu222Lys RISN_GRM6:c.686G>A commonName Gly 229 Glu RISN_GRM6:c.686G>A protEffect p.Gly229Glu RISN_GRM6:c.721+83G>T commonName IVS2+83g>t RISN_GRM6:c.727G>T commonName Val 243 Phe RISN_GRM6:c.727G>T protEffect p.Val243Phe RISN_GRM6:c.727_728insG commonName 728insG RISN_GRM6:c.727_728insG phenoCommon CSNB RISN_GRM6:c.733A>G commonName Ile 245 Val RISN_GRM6:c.733A>G protEffect p.Ile245Val RISN_GRM6:c.1131C>T commonName Asp 377 Asp RISN_GRM6:c.1131C>T protEffect p.Asp377Asp RISN_GRM6:c.1153+52_1153+53ins9 commonName IVS5+53ins9bp RISN_GRM6:c.1227C>T commonName Tyr 409 Tyr RISN_GRM6:c.1227C>T protEffect p.Tyr409Tyr RISN_GRM6:c.1353T>C commonName Asn 451 Asn RISN_GRM6:c.1353T>C protEffect p.Asn451Asn RISN_GRM6:c.1392A>G commonName Gly 464 Gly RISN_GRM6:c.1392A>G protEffect p.Gly464Gly RISN_GRM6:c.1500+23A>G commonName IVS7+23g>a RISN_GRM6:c.1565G>A commonName Cys 522 Tyr RISN_GRM6:c.1565G>A phenoCommon CSNB RISN_GRM6:c.1565G>A protEffect p.Cys522Tyr RISN_GRM6:c.1566C>T commonName Cys 522 Cys RISN_GRM6:c.1566C>T protEffect p.Cys522Cys RISN_GRM6:c.1732C>T commonName Arg 578 Cys RISN_GRM6:c.1732C>T protEffect p.Arg578Cys RISN_GRM6:c.1748C>T commonName Ser 583 Phe RISN_GRM6:c.1748C>T protEffect p.Ser583Phe RISN_GRM6:c.1766C>T commonName Pro 589 Leu RISN_GRM6:c.1766C>T protEffect p.Pro589Leu RISN_GRM6:c.1848C>T commonName Val 616 Val RISN_GRM6:c.1848C>T protEffect p.Val616Val RISN_GRM6:c.1861C>T commonName Arg 621 ter RISN_GRM6:c.1861C>T phenoCommon CSNB RISN_GRM6:c.1861C>T protEffect p.Arg621X RISN_GRM6:c.1875C>T commonName Tyr 625 Tyr RISN_GRM6:c.1875C>T protEffect p.Tyr625Tyr RISN_GRM6:c.1887C>T commonName Thr 629 Thr RISN_GRM6:c.1887C>T protEffect p.Thr629Thr RISN_GRM6:c.1944G>T commonName Ala 648 Ala RISN_GRM6:c.1944G>T protEffect p.Ala648Ala RISN_GRM6:c.1953C>T commonName Ala 651 Ala RISN_GRM6:c.1953C>T protEffect p.Ala651Ala RISN_GRM6:c.1956C>T commonName Ala 652 Ala RISN_GRM6:c.1956C>T protEffect p.Ala652Ala RISN_GRM6:c.1958G>A commonName Arg 653 His RISN_GRM6:c.1958G>A protEffect p.Arg653His RISN_GRM6:c.2092C>G commonName Leu 698 Val RISN_GRM6:c.2092C>G protEffect p.Leu698Val RISN_GRM6:c.2122C>T commonName Gln 708 ter RISN_GRM6:c.2122C>T phenoCommon CSNB RISN_GRM6:c.2122C>T protEffect p.Gln708X RISN_GRM6:c.2134A>G commonName Met 712 Val RISN_GRM6:c.2134A>G protEffect p.Met712Val RISN_GRM6:c.2196G>A commonName Thr 732 Thr RISN_GRM6:c.2196G>A protEffect p.Thr732Thr RISN_GRM6:c.2341G>A commonName Glu 781 Lys RISN_GRM6:c.2341G>A phenoCommon CSNB RISN_GRM6:c.2341G>A protEffect p.Glu781Lys RISN_GRM6:c.2397C>T commonName Phe 799 Phe RISN_GRM6:c.2397C>T protEffect p.Phe799Phe RISN_GRM6:c.2420C>T commonName Ala 807 Val RISN_GRM6:c.2420C>T protEffect p.Ala807Val RISN_GRM6:c.2436+46A>C commonName IVS9+46a>c RISN_GRM6:c.2436+55G>A commonName IVS9+55g>a RISN_GRM6:c.2437-6G>A commonName IVS9-6g>a RISN_GRM6:c.2634*56A>C commonName 2690A>C RISN_RPGR:c.28+5G>A commonName IVS1+5g-a RISN_RPGR:c.28+5G>A phenoCommon RP3 RISN_RPGR:c.28+1G>A commonName IVS1+1g-a RISN_RPGR:c.28+1G>A phenoCommon RP3 RISN_RPGR:c.29-15A>G commonName IVS1-15g/a RISN_RPGR:c.97delA commonName 97delA RISN_RPGR:c.97delA phenoCommon RP3 RISN_RPGR:c.106G>T commonName Val 36 Pro RISN_RPGR:c.106G>T phenoCommon CSNB RISN_RPGR:c.106G>T protEffect p.Val36Pro RISN_RPGR:c.127G>A commonName Gly 43 Arg RISN_RPGR:c.127G>A phenoCommon RP3 RISN_RPGR:c.127G>A protEffect p.Gly43Arg RISN_RPGR:c.128G>A commonName Gly 43 Glu RISN_RPGR:c.128G>A phenoCommon RP3 RISN_RPGR:c.128G>A protEffect p.Gly43Glu RISN_RPGR:c.141T>G commonName Ser 47 Ser RISN_RPGR:c.141T>G protEffect p.Ser47Ser RISN_RPGR:c.154G>T commonName Gly 52 ter RISN_RPGR:c.154G>T phenoCommon RP3 RISN_RPGR:c.154G>T protEffect p.Gly52X RISN_RPGR:c.155-2A>G commonName IVS2-2a-g RISN_RPGR:c.155-2A>G phenoCommon RP3 RISN_RPGR:c.248-2A>G commonName IVS3-2a-g RISN_RPGR:c.248-2A>G phenoCommon RP3 RISN_RPGR:c.179G>T commonName Gly 60 Val RISN_RPGR:c.179G>T phenoCommon RP3 RISN_RPGR:c.179G>T protEffect p.Gly60Val RISN_RPGR:c.237_238delAT commonName 237delAT RISN_RPGR:c.237_238delAT phenoCommon RP3 RISN_RPGR:c.248-6T>A commonName IVS3-6t-a RISN_RPGR:c.248-6T>A phenoCommon RP3 RISN_RPGR:c.294C>A commonName His 98 Gln RISN_RPGR:c.294C>A phenoCommon RP3 RISN_RPGR:c.294C>A protEffect p.His98Gln RISN_RPGR:c.296C>A commonName Thr 99 Asn RISN_RPGR:c.296C>A phenoCommon RP3 RISN_RPGR:c.296C>A protEffect p.Thr99Asn RISN_RPGR:c.295_296insCA commonName 296insCA RISN_RPGR:c.295_296insCA phenoCommon RP3 RISN_RPGR:c.310+1G>C commonName IVS4+1g-c RISN_RPGR:c.310+1G>C phenoCommon RP3 RISN_RPGR:c.310+3A>G commonName IVS4+3a-g RISN_RPGR:c.310+3A>G phenoCommon RP3 RISN_RPGR:c.355delT commonName 355delT RISN_RPGR:c.355delT phenoCommon RP3 RISN_RPGR:c.371delC commonName 371delC RISN_RPGR:c.371delC phenoCommon RP3 RISN_RPGR:c.379A>G commonName Arg 127 Gly RISN_RPGR:c.379A>G phenoCommon RP3 RISN_RPGR:c.379A>G protEffect p.Arg127Gly RISN_RPGR:c.389T>G commonName Phe 130 Cys RISN_RPGR:c.389T>G phenoCommon RP3 RISN_RPGR:c.389T>G protEffect p.Phe130Cys RISN_RPGR:c.415G>T commonName Glu 139 ter RISN_RPGR:c.415G>T phenoCommon RP3 RISN_RPGR:c.415G>T protEffect p.Glu139X RISN_RPGR:c.469+1G>A commonName IVS5+1g-a RISN_RPGR:c.469+1G>A phenoCommon RP3 RISN_RPGR:c.482delT commonName 482delT RISN_RPGR:c.482delT phenoCommon RP3 RISN_RPGR:c.482_483delTT commonName 482delTT RISN_RPGR:c.482_483delTT phenoCommon RP3 RISN_RPGR:c.492G>A commonName Trp 164 ter RISN_RPGR:c.492G>A phenoCommon RP3 RISN_RPGR:c.492G>A protEffect p.Trp164X RISN_RPGR:c.581G>A commonName Trp 194 ter RISN_RPGR:c.581G>A phenoCommon RP3 RISN_RPGR:c.581G>A protEffect p.Trp194X RISN_RPGR:c.605C>A commonName Ser 202 ter RISN_RPGR:c.605C>A phenoCommon RP3 RISN_RPGR:c.605C>A protEffect p.Ser202X RISN_RPGR:c.619+5G>A commonName IVS6+5g-a RISN_RPGR:c.619+5G>A phenoCommon RP3 RISN_RPGR:c.620-41T>C commonName IVS6-41t-c RISN_RPGR:c.644G>T commonName Gly 215 Val RISN_RPGR:c.644G>T phenoCommon RP3 RISN_RPGR:c.644G>T protEffect p.Gly215Val RISN_RPGR:c.703C>T commonName Pro 235 Ser RISN_RPGR:c.703C>T phenoCommon RP3 RISN_RPGR:c.703C>T protEffect p.Pro235Ser RISN_RPGR:c.706C>T commonName Gln 236 ter RISN_RPGR:c.706C>T phenoCommon RP3 RISN_RPGR:c.706C>T protEffect p.Gln236X RISN_RPGR:c.730A>T commonName Lys 244 ter RISN_RPGR:c.730A>T phenoCommon RP3 RISN_RPGR:c.730A>T protEffect p.Lys244X RISN_RPGR:c.732G>A commonName Lys 244 Lys RISN_RPGR:c.732G>A protEffect p.Lys244Lys RISN_RPGR:c.747delC commonName 746delC RISN_RPGR:c.747delC phenoCommon Pathogenic RISN_RPGR:c.748T>C commonName Cys 250 Arg RISN_RPGR:c.748T>C phenoCommon RP3 RISN_RPGR:c.748T>C protEffect p.Cys250Arg RISN_RPGR:c.750_751delTG commonName 750delTG RISN_RPGR:c.750_751delTG phenoCommon RP3 RISN_RPGR:c.(?_779)_(1245_?)del commonName del Exon 8-10 RISN_RPGR:c.(?_779)_(1245_?)del phenoCommon RP3 RISN_RPGR:c.(?_779)_(934_?)del commonName Deletion exon 8 RISN_RPGR:c.(?_779)_(934_?)del phenoCommon RP3 RISN_RPGR:c.779-1G>A commonName IVS7-1g-a RISN_RPGR:c.779-1G>A phenoCommon Possibly pathogenic RISN_RPGR:c.778+5G>A commonName IVS7+5g-a RISN_RPGR:c.778+5G>A phenoCommon RP3 RISN_RPGR:c.823G>A commonName Gly 275 Ser RISN_RPGR:c.823G>A phenoCommon RP3 RISN_RPGR:c.823G>A protEffect p.Gly275Ser RISN_RPGR:c.833_836delCTTT commonName 833delCTTT RISN_RPGR:c.833_836delCTTT phenoCommon Pathogenic RISN_RPGR:c.834delT commonName 834delT RISN_RPGR:c.834delT phenoCommon RP3 RISN_RPGR:c.834_835delTT commonName 834delTT RISN_RPGR:c.834_835delTT phenoCommon Possibly pathogenic RISN_RPGR:c.836_2209del commonName 836del1374bp RISN_RPGR:c.836_2209del phenoCommon RP3 RISN_RPGR:c.865A>G commonName Ile 289 Val RISN_RPGR:c.865A>G phenoCommon RP3 RISN_RPGR:c.865A>G protEffect p.Ile289Val RISN_RPGR:c.869delA commonName 869delA RISN_RPGR:c.869delA phenoCommon RP3 RISN_RPGR:c.886_900del commonName 886del15bp RISN_RPGR:c.886_900del phenoCommon RP3 RISN_RPGR:c.904T>C commonName Cys 302 Arg RISN_RPGR:c.904T>C phenoCommon RP3 RISN_RPGR:c.904T>C protEffect p.Cys302Arg RISN_RPGR:c.905G>A commonName Cys 302 Tyr RISN_RPGR:c.905G>A phenoCommon RP3 RISN_RPGR:c.905G>A protEffect p.Cys302Tyr RISN_RPGR:c.931A>G commonName Asp 312 Asn RISN_RPGR:c.931A>G phenoCommon Possibly pathogenic RISN_RPGR:c.931A>G protEffect p.Asp312Asn RISN_RPGR:c.934+1G>A commonName IVS8+1g-a RISN_RPGR:c.934+1G>A phenoCommon RP3 RISN_RPGR:c.934+1G>C commonName IVS8+1g-c RISN_RPGR:c.934+1G>C phenoCommon RP3 RISN_RPGR:c.958G>A commonName Gly 320 Arg RISN_RPGR:c.958G>A phenoCommon Possibly pathogenic RISN_RPGR:c.958G>A protEffect p.Gly320Arg RISN_RPGR:c.980T>G commonName Leu 327 ter RISN_RPGR:c.980T>G phenoCommon RP3 RISN_RPGR:c.980T>G protEffect p.Leu327X RISN_RPGR:c.994G>T commonName Glu 332 ter RISN_RPGR:c.994G>T phenoCommon RP3 RISN_RPGR:c.994G>T protEffect p.Glu332X RISN_RPGR:c.1033A>G commonName Asn 345 Asp RISN_RPGR:c.1033A>G protEffect p.Asn345Asp RISN_RPGR:c.1088dupT commonName 1088insT RISN_RPGR:c.1088dupT phenoCommon RP3 RISN_RPGR:c.1099delC commonName 1099delC RISN_RPGR:c.1099delC phenoCommon RP3 RISN_RPGR:c.1120G>T commonName Glu 374 ter RISN_RPGR:c.1120G>T phenoCommon RP3 RISN_RPGR:c.1120G>T protEffect p.Glu374X RISN_RPGR:c.1164G>A commonName Ala 388 Ala RISN_RPGR:c.1164G>A protEffect p.Ala388Ala RISN_RPGR:c.1243_1244dupAG commonName 1243insAG RISN_RPGR:c.1243_1244dupAG phenoCommon RP3 RISN_RPGR:c.1245+3A>G commonName IVS10+3a-g RISN_RPGR:c.1245+3A>G phenoCommon RP3 RISN_RPGR:c.1245+16A>G commonName IVS10+16a-g RISN_RPGR:c.1245+16A>G phenoCommon RP3 RISN_RPGR:c.1261_1279del commonName 1261del19bp RISN_RPGR:c.1261_1279del phenoCommon RP3 RISN_RPGR:c.1274G>A commonName Arg 425 Lys RISN_RPGR:c.1274G>A protEffect p.Arg425Lys RISN_RPGR:c.1291A>G commonName Ile 431 Val RISN_RPGR:c.1291A>G protEffect p.Ile431Val RISN_RPGR:c.1307G>A commonName Gly 436 Asp RISN_RPGR:c.1307G>A phenoCommon RP3 RISN_RPGR:c.1307G>A protEffect p.Gly436Asp RISN_RPGR:c.1376_1377delTC commonName 1376delTC RISN_RPGR:c.1376_1377delTC phenoCommon RP3 RISN_RPGR:c.1402_1405delCCAG commonName 1402delCCAG RISN_RPGR:c.1402_1405delCCAG phenoCommon RP3 RISN_RPGR:c.1476delC commonName 1476delC RISN_RPGR:c.1476delC phenoCommon RP3 RISN_RPGR:c.1478T>A commonName Asn 493 Lys RISN_RPGR:c.1478T>A phenoCommon RP3 RISN_RPGR:c.1478T>A protEffect p.Asn493Lys RISN_RPGR:c.1507-101T>A commonName IVS12-101t/aa RISN_RPGR:c.1507-97T>C commonName IVS12-97t/c RISN_RPGR:c.1507-104_1507-101delAAAT commonName IVS12-104delAAAT RISN_RPGR:c.1507-68T>C commonName IVS12-68t/c RISN_RPGR:c.1508_1509delCA commonName 1508delCA RISN_RPGR:c.1508_1509delCA phenoCommon RP3 RISN_RPGR:c.1572+11A>G commonName IVS13+11a/g RISN_RPGR:c.(?_1573)_(3459_?)del commonName del Exon 14 - 15 RISN_RPGR:c.(?_1573)_(3459_?)del phenoCommon RP3 RISN_RPGR:c.1573-2A>G commonName IVS13-2a-g RISN_RPGR:c.1573-2A>G phenoCommon RP3 RISN_RPGR:c.1573-1G>A commonName IVS13-1g-a RISN_RPGR:c.1573-1G>A phenoCommon RP3 RISN_RPGR:c.1573-8A>G commonName IVS13-8a-g RISN_RPGR:c.1573-8A>G phenoCommon RP3 RISN_RPGR:c.1575_1578delACAA commonName 1575del ACAA RISN_RPGR:c.1575_1578delACAA phenoCommon RP3 RISN_RPGR:c.1576_1578delCAA commonName 1576delCAA RISN_RPGR:c.1576_1578delCAA phenoCommon Possibly pathogenic RISN_RPGR:c.1598C>T commonName Thr 533 Met RISN_RPGR:c.1598C>T phenoCommon Possibly pathogenic RISN_RPGR:c.1598C>T protEffect p.Thr533Met RISN_RPGR:c.1697G>A commonName Gly 566 Glu RISN_RPGR:c.1697G>A protEffect p.Gly566Glu RISN_RPGR:c.1747G>T commonName Glu 583 ter RISN_RPGR:c.1747G>T phenoCommon Pathogenic RISN_RPGR:c.1747G>T protEffect p.Glu583X RISN_RPGR:c.1832dupA commonName 18332insA RISN_RPGR:c.1832dupA phenoCommon RP3 RISN_RPGR:c.2008C>T commonName Gln 670 ter RISN_RPGR:c.2008C>T phenoCommon RP3 RISN_RPGR:c.2008C>T protEffect p.Gln670X RISN_RPGR:c.2055A>G commonName Glu 685 Glu RISN_RPGR:c.2055A>G protEffect p.Glu685Glu RISN_RPGR:c.2080A>T commonName Lys 694 ter RISN_RPGR:c.2080A>T phenoCommon Possibly pathogenic RISN_RPGR:c.2080A>T protEffect p.Lys694X RISN_RPGR:c.2106_2109delGAAG commonName 2106delGAAG RISN_RPGR:c.2106_2109delGAAG phenoCommon Pathogenic RISN_RPGR:c.2109_2110ins4 commonName 2110ins4bp RISN_RPGR:c.2109_2110ins4 phenoCommon Possibly pathogenic RISN_RPGR:c.2144_2216dup commonName 2144dup73bp RISN_RPGR:c.2144_2216dup phenoCommon RP3 RISN_RPGR:c.2218G>T commonName Glu 740 ter RISN_RPGR:c.2218G>T phenoCommon Possibly pathogenic RISN_RPGR:c.2218G>T protEffect p.Glu740X RISN_RPGR:c.2223G>A commonName Glu 741 Glu RISN_RPGR:c.2223G>A protEffect p.Glu741Glu RISN_RPGR:c.2226G>A commonName Glu 742 Glu RISN_RPGR:c.2226G>A protEffect p.Glu742Glu RISN_RPGR:c.2239_2240delGA commonName 2239delGA RISN_RPGR:c.2239_2240delGA phenoCommon RP3 RISN_RPGR:c.2245G>T commonName Glu 749 ter RISN_RPGR:c.2245G>T phenoCommon RP3 RISN_RPGR:c.2245G>T protEffect p.Glu749X RISN_RPGR:c.2259A>T commonName Gly 753 Gly RISN_RPGR:c.2259A>T protEffect p.Gly753Gly RISN_RPGR:c.2260G>T commonName Glu 754 ter RISN_RPGR:c.2260G>T phenoCommon Possibly pathogenic RISN_RPGR:c.2260G>T protEffect p.Glu754X RISN_RPGR:c.2269_2270delGA commonName 2269delGA RISN_RPGR:c.2269_2270delGA phenoCommon Possibly pathogenic RISN_RPGR:c.2311delG commonName 2311delG RISN_RPGR:c.2311delG phenoCommon RP3 RISN_RPGR:c.2317_2318ins14 commonName 2318ins14bp RISN_RPGR:c.2317_2318ins14 phenoCommon RP3 RISN_RPGR:c.2320_2321delGA commonName 2320delGA RISN_RPGR:c.2320_2321delGA phenoCommon Pathogenic RISN_RPGR:c.2340A>G commonName Arg 780 Arg RISN_RPGR:c.2340A>G protEffect p.Arg780Arg RISN_RPGR:c.2342C>A commonName Ala 781 Thr RISN_RPGR:c.2342C>A phenoCommon Non pathogenic RISN_RPGR:c.2342C>A protEffect p.Ala781Thr RISN_RPGR:c.2356_2357delAA commonName 2356delAA RISN_RPGR:c.2356_2357delAA phenoCommon Pathogenic RISN_RPGR:c.2357_2375del commonName 2357del19bp RISN_RPGR:c.2357_2375del phenoCommon RP3 RISN_RPGR:c.2400_2401delAA commonName 2400del AA RISN_RPGR:c.2400_2401delAA phenoCommon RP3 RISN_RPGR:c.2403_2406delAGAG commonName 2403delAGAG RISN_RPGR:c.2403_2406delAGAG phenoCommon Pathogenic RISN_RPGR:c.2405_2406delAG commonName 2405delAG RISN_RPGR:c.2405_2406delAG phenoCommon RP3 RISN_RPGR:c.2412_2413delAG commonName 2412delAG RISN_RPGR:c.2412_2413delAG phenoCommon Pathogenic RISN_RPGR:c.2426_2427delAG commonName 2426delAG RISN_RPGR:c.2426_2427delAG phenoCommon RP3 RISN_RPGR:c.2442_2445delAGAG commonName 2442delAGAG RISN_RPGR:c.2442_2445delAGAG phenoCommon RP3 RISN_RPGR:c.2447_2461del commonName 2447del15bp RISN_RPGR:c.2496dupG commonName 2496insG RISN_RPGR:c.2496dupG phenoCommon RP3 RISN_RPGR:c.2522delA commonName 2522delA RISN_RPGR:c.2522delA phenoCommon RP3 RISN_RPGR:c.2541_2561del commonName 2541del21bp RISN_RPGR:c.2557G>T commonName Glu 853 ter RISN_RPGR:c.2557G>T phenoCommon RP3 RISN_RPGR:c.2557G>T protEffect p.Glu853X RISN_RPGR:c.2584_2585delGG commonName 2584delGG RISN_RPGR:c.2584_2585delGG phenoCommon RP3 RISN_RPGR:c.2605_2619del commonName 2605del15bp RISN_RPGR:c.2611_2612dupGG commonName 2611insGG RISN_RPGR:c.2611_2612dupGG phenoCommon RP3 RISN_RPGR:c.2625_2626insA commonName 2626insA RISN_RPGR:c.2625_2626insA phenoCommon RP3 RISN_RPGR:c.2650G>T commonName Glu 884 ter RISN_RPGR:c.2650G>T phenoCommon RP3 RISN_RPGR:c.2650G>T protEffect p.Glu884X RISN_RPGR:c.2667_2669delGGA commonName 2667delGGA RISN_RPGR:c.2728_2729delGG commonName 2728delGG RISN_RPGR:c.2728_2729delGG phenoCommon RP3 RISN_RPGR:c.2761_2762delGG commonName 2761delGG RISN_RPGR:c.2761_2762delGG phenoCommon RP3 RISN_RPGR:c.2820_2840dup commonName 2820dup21bp RISN_RPGR:c.2894delA commonName 2894delA RISN_RPGR:c.2894delA phenoCommon RP3 RISN_RPGR:c.2925_2945dup commonName 2925dup21bp RISN_RPGR:c.2992_2996delGAAGG commonName 2992delGAAGG RISN_RPGR:c.2992_2996delGAAGG phenoCommon RP3 RISN_RPGR:c.3072_3083del commonName 3072del12bp RISN_RPGR:c.3086_3097del commonName 3086del12bp RISN_RPGR:c.3101_3102delAG commonName 3101delAG RISN_RPGR:c.3101_3102delAG phenoCommon COD1 RISN_RPGR:c.3102delA commonName 3102delA RISN_RPGR:c.3102delA phenoCommon Pathogenic RISN_RPGR:c.3105delG commonName 3105delG RISN_RPGR:c.3105delG phenoCommon RP3 RISN_RPGR:c.3231T>C commonName Gly 1077 Gly RISN_RPGR:c.3231T>C protEffect p.Gly1077Gly RISN_RPGR:c.3243T>A commonName Asn 1081 Lys RISN_RPGR:c.3243T>A phenoCommon Possibly pathogenic RISN_RPGR:c.3243T>A protEffect p.Asn1081Lys RISN_RPGR:c.3246A>G commonName Val 1092 Val RISN_RPGR:c.3246A>G protEffect p.Val1092Val RISN_RPGR:c.3322_3323insA commonName 3323insA RISN_RPGR:c.3322_3323insA phenoCommon COD1 RISN_RPGR:c.3408T>C commonName Asn 1136 Asn RISN_RPGR:c.3408T>C protEffect p.Asn1136Asn RISN_BBS1:c.432+1G>A commonName IVS4+1G-A RISN_BBS1:c.432+1G>A phenoCommon BBS1 RISN_BBS1:c.851delA commonName 851delA RISN_BBS1:c.851delA phenoCommon BBS1 RISN_BBS1:c.1169T>G commonName Met 390 Arg RISN_BBS1:c.1169T>G phenoCommon BBS1 RISN_BBS1:c.1169T>G protEffect p.Met390Arg RISN_BBS1:c.1655T>G commonName Glu 549 ter RISN_BBS1:c.1655T>G phenoCommon BBS1 RISN_BBS1:c.1655T>G protEffect p.Glu549X RISN_OA1:c.13C>T commonName Arg 5 Cys RISN_OA1:c.13C>T phenoCommon OA1 RISN_OA1:c.13C>T protEffect p.Arg5Cys RISN_OA1:c.104G>A commonName Gly 35 Asp RISN_OA1:c.104G>A phenoCommon OA1 RISN_OA1:c.104G>A protEffect p.Gly35Asp RISN_OA1:c.116T>G commonName Leu 39 Cys RISN_OA1:c.116T>G phenoCommon OA1 RISN_OA1:c.116T>G protEffect p.Leu39Cys RISN_OA1:c.151_157del commonName 151del7 RISN_OA1:c.151_157del phenoCommon OA1 RISN_OA1:c.165_193del commonName 165del29bp RISN_OA1:c.165_193del phenoCommon OA1 RISN_OA1:c.174_175insC commonName 175insC RISN_OA1:c.174_175insC phenoCommon OA1 RISN_OA1:c.175delT commonName 175delT RISN_OA1:c.175delT phenoCommon OA1 RISN_OA1:c.215_231del commonName 215del17bp RISN_OA1:c.215_231del phenoCommon OA1 RISN_OA1:c.232G>A commonName Asp 78 Asn RISN_OA1:c.232G>A phenoCommon OA1 RISN_OA1:c.232G>A protEffect p.Asp78Asn RISN_OA1:c.233A>T commonName Asp 78 Val RISN_OA1:c.233A>T phenoCommon OA1 RISN_OA1:c.233A>T protEffect p.Asp78Val RISN_OA1:c.250G>C commonName Gly 84 Arg RISN_OA1:c.250G>C phenoCommon OA1 RISN_OA1:c.250G>C protEffect p.Gly84Arg RISN_OA1:c.(?_251)_(360_?)del commonName Deletion Exon 2 RISN_OA1:c.(?_251)_(360_?)del phenoCommon OA1 RISN_OA1:c.(?_251)_(1120_?)del commonName Deletion Exon 2 - 8 RISN_OA1:c.(?_251)_(1120_?)del phenoCommon OA1 RISN_OA1:c.251G>A commonName Gly 84 Asp RISN_OA1:c.251G>A phenoCommon OA1 RISN_OA1:c.251G>A protEffect p.Gly84Asp RISN_OA1:c.251-1G>C commonName IVS1-1g-c RISN_OA1:c.251-1G>C phenoCommon OA1 RISN_OA1:c.310delG commonName 310delG RISN_OA1:c.310delG phenoCommon OA1 RISN_OA1:c.347G>C commonName Cys 116 Ser RISN_OA1:c.347G>C phenoCommon OA1 RISN_OA1:c.347G>C protEffect p.Cys116Ser RISN_OA1:c.346T>C commonName Cys 116 Arg RISN_OA1:c.346T>C phenoCommon OA1 RISN_OA1:c.346T>C protEffect p.Cys116Arg RISN_OA1:c.353G>A commonName Gly 118 Glu RISN_OA1:c.353G>A phenoCommon OA1 RISN_OA1:c.353G>A protEffect p.Gly118Glu RISN_OA1:c.360G>A commonName Ala 120 Ala RISN_OA1:c.360G>A phenoCommon OA1 RISN_OA1:c.360G>A protEffect p.Ala120Ala RISN_OA1:c.360+5G>C commonName IVS2+5g-c RISN_OA1:c.360+5G>C phenoCommon OA1 RISN_OA1:c.360+13C>G commonName IVS2+13c/g RISN_OA1:c.(?_361)_(455_?)del commonName Deletion Exon 3 RISN_OA1:c.(?_361)_(455_?)del phenoCommon OA1 RISN_OA1:c.371A>G commonName Gln 124 Arg RISN_OA1:c.371A>G phenoCommon OA1 RISN_OA1:c.371A>G protEffect p.Gln124Arg RISN_OA1:c.397T>A commonName Trp 133 Arg RISN_OA1:c.397T>A phenoCommon OA1 RISN_OA1:c.397T>A protEffect p.Trp133Arg RISN_OA1:c.397T>C commonName Trp 133 Arg RISN_OA1:c.397T>C phenoCommon OA1 RISN_OA1:c.397T>C protEffect p.Trp133Arg RISN_OA1:c.402delG commonName 402delG RISN_OA1:c.402delG phenoCommon OA1 RISN_OA1:c.413C>T commonName Ala 138 Val RISN_OA1:c.413C>T phenoCommon OA1 RISN_OA1:c.413C>T protEffect p.Ala138Val RISN_OA1:c.444_445insAGATCGG commonName 445insAGATCGG RISN_OA1:c.444_445insAGATCGG phenoCommon OA1 RISN_OA1:c.455G>A commonName Ser 152 Asn RISN_OA1:c.455G>A phenoCommon OA1 RISN_OA1:c.455G>A protEffect p.Ser152Asn RISN_OA1:c.455+1G>C commonName IVS3+1g-c RISN_OA1:c.455+1G>C phenoCommon OA1 RISN_OA1:c.(?_456)_(658_?)del commonName Deletion Exon 4 - 5 RISN_OA1:c.(?_456)_(658_?)del phenoCommon OA1 RISN_OA1:c.(?_456)_(548_?)del commonName Deletion Exon 4 RISN_OA1:c.(?_456)_(548_?)del phenoCommon OA1 RISN_OA1:c.518C>A commonName Ala 173 Asp RISN_OA1:c.518C>A phenoCommon OA1 RISN_OA1:c.518C>A protEffect p.Ala173Asp RISN_OA1:c.676delG commonName 676delG RISN_OA1:c.676delG phenoCommon OA1 RISN_OA1:c.686G>T commonName Gly 229 Val RISN_OA1:c.686G>T phenoCommon OA1 RISN_OA1:c.686G>T protEffect p.Gly229Val RISN_OA1:c.695C>A commonName Thr 232 Lys RISN_OA1:c.695C>A phenoCommon OA1 RISN_OA1:c.695C>A protEffect p.Thr232Lys RISN_OA1:c.697G>A commonName Glu 233 Lys RISN_OA1:c.697G>A phenoCommon OA1 RISN_OA1:c.697G>A protEffect p.Glu233Lys RISN_OA1:c.705G>A commonName Glu 235 Lys RISN_OA1:c.705G>A phenoCommon OA1 RISN_OA1:c.705G>A protEffect p.Glu235Lys RISN_OA1:c.730A>G commonName Ile 244 Val RISN_OA1:c.730A>G phenoCommon OA1 RISN_OA1:c.730A>G protEffect p.Ile244Val RISN_OA1:c.754_767del commonName 754del14bp RISN_OA1:c.754_767del phenoCommon OA1 RISN_OA1:c.779A>T commonName Ile 261 Asn RISN_OA1:c.779A>T phenoCommon OA1 RISN_OA1:c.779A>T protEffect p.Ile261Asn RISN_OA1:c.812A>G commonName Glu 271 Gly RISN_OA1:c.812A>G phenoCommon OA1 RISN_OA1:c.812A>G protEffect p.Glu271Gly RISN_OA1:c.885+1G>A commonName IVS7+1g-a RISN_OA1:c.885+1G>A phenoCommon OA1 RISN_OA1:c.868_870delACC commonName 868delACC RISN_OA1:c.868_870delACC phenoCommon OA1 RISN_OA1:c.874T>G commonName Trp 292 Gly RISN_OA1:c.874T>G phenoCommon OA1 RISN_OA1:c.874T>G protEffect p.Trp292Gly RISN_OA1:c.876G>T commonName Trp 292 Cys RISN_OA1:c.876G>T phenoCommon OA1 RISN_OA1:c.876G>T protEffect p.Trp292Cys RISN_OA1:c.876G>A commonName Trp 292 ter RISN_OA1:c.876G>A phenoCommon OA1 RISN_OA1:c.876G>A protEffect p.Trp292X RISN_OA1:c.931_932insCG commonName 932insCG RISN_OA1:c.931_932insCG phenoCommon OA1 RISN_OA1:c.1215*194C>T commonName 1409c/t RISN_CRB1:c.478dupG commonName 478insG RISN_CRB1:c.478dupG phenoCommon ARRP RISN_CRB1:c.2882_2884delTAT commonName 2882delTAT RISN_CRB1:c.2882_2884delTAT phenoCommon ARRP RISN_CRB1:c.3961T>A commonName Cys 1321 Ser RISN_CRB1:c.3961T>A phenoCommon ARRP RISN_CRB1:c.3961T>A protEffect p.Cys1321Ser RISN_CRB1:c.3961_3970del commonName 3343del10bp RISN_CRB1:c.3961_3970del phenoCommon ARRP RISN_CRB1:c.482C>T commonName Ala 161 Val RISN_CRB1:c.482C>T phenoCommon ARRP (RP12) RISN_CRB1:c.482C>T protEffect p.Ala161Val RISN_CRB1:c.750T>G commonName Cys 250 Trp RISN_CRB1:c.750T>G phenoCommon ARRP (RP12) RISN_CRB1:c.750T>G protEffect p.Cys250Trp RISN_CRB1:c.1208C>G commonName Ser 403 ter RISN_CRB1:c.1208C>G phenoCommon ARRP (RP12) RISN_CRB1:c.1208C>G protEffect p.Ser403X RISN_CRB1:c.2234C>T commonName Thr 745 Met RISN_CRB1:c.2234C>T phenoCommon ARRP (RP12) RISN_CRB1:c.2234C>T protEffect p.Thr745Met RISN_CRB1:c.2244_2246delATC commonName 2244delATC RISN_CRB1:c.2244_2246delATC phenoCommon ARRP (RP12) RISN_CRB1:c.2290C>T commonName Arg 764 Cys RISN_CRB1:c.2290C>T phenoCommon ARRP (RP12) RISN_CRB1:c.2290C>T protEffect p.Arg764Cys RISN_CRB1:c.2842T>A commonName Cys 948 Tyr RISN_CRB1:c.2842T>A phenoCommon ARRP (RP12) RISN_CRB1:c.2842T>A protEffect p.Cys948Tyr RISN_CRB1:c.2843G>A commonName Cys 948 Tyr RISN_CRB1:c.2843G>A phenoCommon ARRP (RP12) RISN_CRB1:c.2843G>A protEffect p.Cys948Tyr RISN_CRB1:c.2983G>T commonName Glu 995 ter RISN_CRB1:c.2983G>T phenoCommon ARRP (RP12) RISN_CRB1:c.2983G>T protEffect p.Glu995X RISN_CRB1:c.3122T>C commonName Met 1041 Thr RISN_CRB1:c.3122T>C phenoCommon ARRP (RP12) RISN_CRB1:c.3122T>C protEffect p.Met1041Thr RISN_CRB1:c.3212T>C commonName Leu 1071 Pro RISN_CRB1:c.3212T>C phenoCommon ARRP (RP12) RISN_CRB1:c.3212T>C protEffect p.Leu1071Pro RISN_CRB1:c.2671T>G commonName Cys 891 Gly RISN_CRB1:c.2671T>G phenoCommon early onset RP RISN_CRB1:c.2671T>G protEffect p.Cys891Gly RISN_CRB1:c.3299T>C commonName Ile 1100 Thr RISN_CRB1:c.3299T>C phenoCommon early onset RP + macular symptoms RISN_CRB1:c.3299T>C protEffect p.Ile1100Thr RISN_CRB1:c.614T>C commonName Ile 205 Thr RISN_CRB1:c.614T>C phenoCommon LCA RISN_CRB1:c.614T>C protEffect p.Ile205Thr RISN_CRB1:c.111delT commonName 111delT RISN_CRB1:c.111delT phenoCommon LCA6 RISN_CRB1:c.257_258insGT commonName 285insGT RISN_CRB1:c.257_258insGT phenoCommon LCA6 RISN_CRB1:c.428_432del commonName 428del5bp RISN_CRB1:c.428_432del phenoCommon LCA6 RISN_CRB1:c.430T>G commonName Phe 144 Val RISN_CRB1:c.430T>G phenoCommon LCA6 RISN_CRB1:c.430T>G protEffect p.Phe144Val RISN_CRB1:c.611_617del commonName 611del7bp RISN_CRB1:c.611_617del phenoCommon LCA6 RISN_CRB1:c.613_619del commonName 613del7bp RISN_CRB1:c.613_619del phenoCommon LCA6 RISN_CRB1:c.616_621del commonName 616del6bp RISN_CRB1:c.616_621del phenoCommon LCA6 RISN_CRB1:c.866C>T commonName Thr 289 Met RISN_CRB1:c.866C>T phenoCommon LCA6 RISN_CRB1:c.866C>T protEffect p.Thr289Met RISN_CRB1:c.1148G>A commonName Cys 383 Tyr RISN_CRB1:c.1148G>A phenoCommon LCA6 RISN_CRB1:c.1148G>A protEffect p.Cys383Tyr RISN_CRB1:c.1438T>C commonName Cys 480 Arg RISN_CRB1:c.1438T>C phenoCommon LCA6 RISN_CRB1:c.1438T>C protEffect p.Cys480Arg RISN_CRB1:c.1439G>A commonName Cys 480 Gly RISN_CRB1:c.1439G>A phenoCommon LCA6 RISN_CRB1:c.1439G>A protEffect p.Cys480Gly RISN_CRB1:c.2042G>A commonName Cys 681 Tyr RISN_CRB1:c.2042G>A phenoCommon LCA6 RISN_CRB1:c.2042G>A protEffect p.Cys681Tyr RISN_CRB1:c.2128G>C commonName Glu 710 Gln RISN_CRB1:c.2128G>C phenoCommon LCA6 RISN_CRB1:c.2128G>C protEffect p.Glu710Gln RISN_CRB1:c.2222T>C commonName Met 741 Thr RISN_CRB1:c.2222T>C phenoCommon LCA6 RISN_CRB1:c.2222T>C protEffect p.Met741Thr RISN_CRB1:c.2441T>A commonName Lys 801 ter RISN_CRB1:c.2441T>A phenoCommon LCA6 RISN_CRB1:c.2441T>A protEffect p.Lys801X RISN_CRB1:c.2479G>T commonName Gly 827 ter RISN_CRB1:c.2479G>T phenoCommon LCA6 RISN_CRB1:c.2479G>T protEffect p.Gly827X RISN_CRB1:c.2548_2551del commonName 2548del4bp RISN_CRB1:c.2548_2551del phenoCommon LCA6 RISN_CRB1:c.2555T>C commonName Ile 852 Thr RISN_CRB1:c.2555T>C phenoCommon LCA6 RISN_CRB1:c.2555T>C protEffect p.Ile852Thr RISN_CRB1:c.2613dupT commonName 2613insT RISN_CRB1:c.2613dupT phenoCommon LCA6 RISN_CRB1:c.2688T>A commonName Cys 896 ter RISN_CRB1:c.2688T>A phenoCommon LCA6 RISN_CRB1:c.2688T>A protEffect p.Cys896X RISN_CRB1:c.2853dupT commonName 2853insT RISN_CRB1:c.2853dupT phenoCommon LCA6 RISN_CRB1:c.3074G>T commonName Ser 1025 Ile RISN_CRB1:c.3074G>T phenoCommon LCA6 RISN_CRB1:c.3074G>T protEffect p.Ser1025Ile RISN_CRB1:c.3299T>G commonName Ile 1100 Arg RISN_CRB1:c.3299T>G phenoCommon LCA6 RISN_CRB1:c.3299T>G protEffect p.Ile1100Arg RISN_CRB1:c.3307G>A commonName Gly 1103 Arg RISN_CRB1:c.3307G>A phenoCommon LCA6 RISN_CRB1:c.3307G>A protEffect p.Gly1103Arg RISN_CRB1:c.3320T>C commonName Leu 1107 Pro RISN_CRB1:c.3320T>C phenoCommon LCA6 RISN_CRB1:c.3320T>C protEffect p.Leu1107Pro RISN_CRB1:c.3320T>G commonName Leu 1107 Arg RISN_CRB1:c.3320T>G phenoCommon LCA6 RISN_CRB1:c.3320T>G protEffect p.Leu1107Arg RISN_CRB1:c.3331G>T commonName Glu 1111 ter RISN_CRB1:c.3331G>T phenoCommon LCA6 RISN_CRB1:c.3331G>T protEffect p.Glu1111X RISN_CRB1:c.3345delT commonName 3345delT RISN_CRB1:c.3345delT phenoCommon LCA6 RISN_CRB1:c.3614G>A commonName Gly 1205 Arg RISN_CRB1:c.3614G>A phenoCommon LCA6 RISN_CRB1:c.3614G>A protEffect p.Gly1205Arg RISN_CRB1:c.3879G>A commonName Trp 1293 ter RISN_CRB1:c.3879G>A phenoCommon LCA6 RISN_CRB1:c.3879G>A protEffect p.Trp1293X RISN_CRB1:c.3949A>C commonName Asn 1317 His RISN_CRB1:c.3949A>C phenoCommon LCA6 RISN_CRB1:c.3949A>C protEffect p.Asn1317His RISN_CRB1:c.4118_4127del commonName 4121del10bp RISN_CRB1:c.4118_4127del phenoCommon LCA6 RISN_CRB1:c.1410A>G commonName Leu 470 Leu RISN_CRB1:c.1410A>G protEffect p.Leu470Leu RISN_CRB1:c.1428C>T commonName Thr 476 Thr RISN_CRB1:c.1428C>T protEffect p.Thr476Thr RISN_CRB1:c.1647T>C commonName Asn 549 Asn RISN_CRB1:c.1647T>C protEffect p.Asn549Asn RISN_CRB1:c.2823G>A commonName Pro 941 Pro RISN_CRB1:c.2823G>A protEffect p.Pro941Pro RISN_CRB1:c.3171C>T commonName Asn 1057 Asn RISN_CRB1:c.3171C>T protEffect p.Asn1057Asn RISN_CRB1:c.3992G>A commonName Arg 1331 His RISN_CRB1:c.3992G>A protEffect p.Arg1331His RISN_CRB1:c.2035C>G commonName Gln 679 Glu RISN_CRB1:c.2035C>G phenoCommon Rare Sequence Variant RISN_CRB1:c.2035C>G protEffect p.Gln679Glu RISN_CRB1:c.2306G>A commonName Arg 769 His RISN_CRB1:c.2306G>A phenoCommon Rare Sequence Variant RISN_CRB1:c.2306G>A protEffect p.Arg769His RISN_CRB1:c.1298A>G commonName Tyr 433 Cys RISN_CRB1:c.1298A>G phenoCommon RP + Coats like exudates RISN_CRB1:c.1298A>G protEffect p.Tyr433Cys RISN_CRB1:c.2509G>C commonName Asp 837 His RISN_CRB1:c.2509G>C phenoCommon RP + Coats like exudates RISN_CRB1:c.2509G>C protEffect p.Asp837His RISN_CRB1:c.2681A>G commonName Asn 894 Ser RISN_CRB1:c.2681A>G phenoCommon RP + Coats like exudates RISN_CRB1:c.2681A>G protEffect p.Asn894Ser RISN_CRB1:c.3541T>C commonName Cys 1181 Arg RISN_CRB1:c.3541T>C phenoCommon RP + Coats like exudates RISN_CRB1:c.3541T>C protEffect p.Cys1181Arg RISN_TULP1:c.99+1G>A commonName IVS2+1g-a RISN_TULP1:c.99+1G>A phenoCommon ARRP RISN_TULP1:c.350-2_350delAGA commonName IVS4-2del agA RISN_TULP1:c.350-2_350delAGA phenoCommon ARRP RISN_TULP1:c.897delC commonName 896delC RISN_TULP1:c.897delC phenoCommon ARRP RISN_TULP1:c.1265C>G commonName Arg 422 Pro RISN_TULP1:c.1265C>G phenoCommon ARRP RISN_TULP1:c.1265C>G protEffect p.Arg422Pro RISN_TULP1:c.1381C>A commonName Ile 461 Leu RISN_TULP1:c.1381C>A phenoCommon ARRP RISN_TULP1:c.1381C>A protEffect p.Ile461Leu RISN_TULP1:c.1466A>G commonName Lys 489 Arg RISN_TULP1:c.1466A>G phenoCommon ARRP RISN_TULP1:c.1466A>G protEffect p.Lys489Arg RISN_TULP1:c.1495+1G>A commonName IVS14+1g-a RISN_TULP1:c.1495+1G>A phenoCommon Early-onset severe retinal degeneration RISN_TULP1:c.200G>C commonName Arg 67 Thr RISN_TULP1:c.200G>C protEffect p.Arg67Thr RISN_TULP1:c.360_383del commonName 360del24bp RISN_TULP1:c.719-19T>A commonName IVS7-19t/a RISN_TULP1:c.734C>T commonName Ala 245 Val RISN_TULP1:c.734C>T protEffect p.Ala245Val RISN_TULP1:c.776T>C commonName Ile 259 Thr RISN_TULP1:c.776T>C protEffect p.Ile259Thr RISN_TULP1:c.783C>G commonName Asn 261 Lys RISN_TULP1:c.783C>G protEffect p.Asn261Lys RISN_TULP1:c.805A>C commonName Lys 269 Gln RISN_TULP1:c.805A>C protEffect p.Lys269Gln RISN_TULP1:c.823-4A>C commonName IVS8-4a/c RISN_TULP1:c.1369A>G commonName Thr 456 Thr RISN_TULP1:c.1369A>G protEffect p.Thr456Thr RISN_TULP1:c.1492G>A commonName Ala 498 Thr RISN_TULP1:c.1492G>A protEffect p.Ala498Thr RISN_TULP1:c.1496-6C>A commonName IVS14-6c/a IPNMDB_423 commonName c.838T>G IPNMDB_423 alias Cys280Gly IPNMDB_275 phenoCommon CMT1X IPNMDB_275 commonName c.841_845delTCGGC IPNMDB_275 alias Ser281fs IPNMDB_274 phenoCommon CMT1X IPNMDB_274 commonName c.842C>A IPNMDB_274 alias Ser281X IPNMDB_967 phenoCommon HSN II IPNMDB_967 commonName c.[639delA]+[1584_1585delAG*] IPNMDB_967 alias [Arg214fs]+[Asp531fs*] IPNMDB_393 phenoCommon HSN II IPNMDB_393 commonName c.918_919insA IPNMDB_393 alias [Ser307fs]+[Ser307fs] IPNMDB_809 phenoCommon HSN II IPNMDB_809 commonName c.1064_1065delTC IPNMDB_809 alias [Ile355fs]+[Ile355fs] IPNMDB_810 phenoCommon HSN II IPNMDB_810 commonName c.1134_1135insT IPNMDB_810 alias [Asp379fs]+[Asp379fs] IPNMDB_400 phenoCommon dHMN CMT2 IPNMDB_400 commonName c.379C>T IPNMDB_400 alias Arg127Trp IPNMDB_401 phenoCommon CMT2 / dHMN IPNMDB_401 commonName c.404C>T IPNMDB_401 alias Ser135Phe IPNMDB_402 phenoCommon CMT2 IPNMDB_402 commonName c.406C>T IPNMDB_402 alias Arg136Trp IPNMDB_403 phenoCommon dHMN IPNMDB_403 commonName c.452C>T IPNMDB_403 alias Thr151Ile IPNMDB_847 phenoCommon dHMN IPNMDB_847 commonName c.544C>T IPNMDB_847 alias Pro182Ser IPNMDB_404 phenoCommon dHMN IPNMDB_404 commonName c.545C>T IPNMDB_404 alias Pro182Leu IPNMDB_405 phenoCommon dHMN II IPNMDB_405 commonName c.421A>G IPNMDB_405 alias Lys141Glu IPNMDB_406 phenoCommon dHMN II IPNMDB_406 commonName c.423G>C IPNMDB_406 alias Lys141Asn IPNMDB_745 phenoCommon CMT2 IPNMDB_745 commonName c.423G>T IPNMDB_745 alias Lys141Asn IPNMDB_889 phenoCommon dHMN VI or SMARD1 IPNMDB_889 commonName c.[50T>C]+[1488C>A] IPNMDB_889 alias [Leu17Pro]+[Cys496X] IPNMDB_755 phenoCommon dHMN VI or SMARD1 IPNMDB_755 commonName c.114delA IPNMDB_755 alias [Lys38fs]+[Lys38fs] IPNMDB_924 phenoCommon dHMN VI or SMARD1 IPNMDB_924 commonName c.[120delC]+[1060G>A] IPNMDB_924 alias [Leu40fs]+[Gly354Ser] IPNMDB_768 phenoCommon dHMN VI or SMARD1 IPNMDB_768 commonName c.[121delC]+[388C>T] IPNMDB_768 alias [Gln41fs]+[Arg130X] IPNMDB_546 phenoCommon dHMN VI or SMARD1 IPNMDB_546 commonName c.[121C>T]+[675delT] IPNMDB_546 alias [Gln41X]+[Val225fs] IPNMDB_554 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_554 commonName c.[127C>T]+[1488C>A] IPNMDB_554 alias [Arg43X]+[Cys496X] IPNMDB_764 phenoCommon dHMN VI or SMARD1 IPNMDB_764 commonName c.[138T>A]+[1648_1649insG] IPNMDB_764 alias [Cys46X]+[Gln551fs] IPNMDB_896 phenoCommon dHMN VI or SMARD1 IPNMDB_896 commonName c.[163C>T]+[1969C>T] IPNMDB_896 alias [Gln55X]+[Gln657X] IPNMDB_550 phenoCommon - (polymorphism) IPNMDB_550 commonName c.180C>T IPNMDB_550 alias Tyr60Tyr IPNMDB_888 phenoCommon dHMN VI or SMARD1 IPNMDB_888 commonName c.388C>T IPNMDB_888 alias [Arg130X]+[Arg130X] IPNMDB_758 phenoCommon dHMN VI or SMARD1 IPNMDB_758 commonName c.[388C>T]+[1144G>A] IPNMDB_758 alias [Arg130X]+[Glu382Lys] IPNMDB_898 phenoCommon dHMN VI or SMARD1 IPNMDB_898 commonName c.[388C>T]+[1743A>C] IPNMDB_898 alias [Arg130X]+[Arg581Ser] IPNMDB_773 phenoCommon dHMN VI or SMARD1 IPNMDB_773 commonName c.[439C>T]+[2362C>T] IPNMDB_773 alias [Arg147X]+[Arg788X] IPNMDB_757 phenoCommon dHMN VI or SMARD1 IPNMDB_757 commonName c.[575T>C]+[1277T>C] IPNMDB_757 alias [Leu192Pro]+[Leu426Pro] IPNMDB_662 phenoCommon dHMN VI or SMARD1 IPNMDB_662 commonName c.[587A>G]+[1909C>T] IPNMDB_662 alias Gln196Arg + Arg603Cys IPNMDB_895 phenoCommon dHMN VI or SMARD1 IPNMDB_895 commonName c.[616C>T]+[1877delT] IPNMDB_895 alias [Gln206X]+[Leu626fs] IPNMDB_544 phenoCommon dHMN VI or SMARD1 IPNMDB_544 commonName c.638A>G IPNMDB_544 alias [His213Arg]+[His213Arg] IPNMDB_661 phenoCommon dHMN VI or SMARD1 IPNMDB_661 commonName c.[647C>T]+[1807C>T] IPNMDB_661 alias Pro216Leu + Arg603Cys IPNMDB_890 phenoCommon dHMN VI or SMARD1 IPNMDB_890 commonName c.[661delA]+[1415T>C] IPNMDB_890 alias [Thr221fs]+[Leu472Pro] IPNMDB_431 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_431 commonName c.[661delA]+[?] IPNMDB_431 alias [Thr221fs] + [?] IPNMDB_774 phenoCommon dHMN VI or SMARD1 IPNMDB_774 commonName c.[661A>G]+[1813C>T] IPNMDB_774 alias [Thr221Ala]+[Arg605X] IPNMDB_767 phenoCommon dHMN VI or SMARD1 IPNMDB_767 commonName c.[707T>G]+[721T>C] IPNMDB_767 alias [Leu236X]+[Cys241Arg] IPNMDB_548 phenoCommon dHMN VI or SMARD1 IPNMDB_548 commonName c.707T>G IPNMDB_548 alias [Leu236X]+[Leu236X] IPNMDB_665 phenoCommon dHMN VI or SMARD1 IPNMDB_665 commonName c.[752T>C]+[1730T>C] IPNMDB_665 alias Leu251Pro + Leu577Pro IPNMDB_897 phenoCommon dHMN VI or SMARD1 IPNMDB_897 commonName c.[904C>T]+[1156T>C] IPNMDB_897 alias [Gln302X]+[Trp386Arg] IPNMDB_624 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_624 commonName c.[958C>T]+[1488C>A] IPNMDB_624 alias [Arg320X]+[Cys496X] IPNMDB_660 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_660 commonName c.[958C>T]+[1082T>C] IPNMDB_660 alias [Arg320X]+[Leu361Pro] IPNMDB_756 phenoCommon dHMN VI or SMARD1 IPNMDB_756 commonName c.983_987delAAGAA IPNMDB_756 alias [Lys328fs]+[Lys328fs] IPNMDB_769 phenoCommon dHMN VI or SMARD1 IPNMDB_769 commonName c.1000G>A IPNMDB_769 alias [Glu334Lys]+[Glu334Lys] IPNMDB_893 phenoCommon dHMN VI or SMARD1 IPNMDB_893 commonName c.[1060+1G>T]+[1082T>C] IPNMDB_893 alias [5'-splice site mutation]+[Leu361Pro] IPNMDB_425 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_425 commonName c.[1082T>C]+[1488C>A] IPNMDB_425 alias [Leu361Pro]+[Cys496X] IPNMDB_761 phenoCommon dHMN VI or SMARD1 IPNMDB_761 commonName c.[1082T>C]+[1730T>C] IPNMDB_761 alias [Leu361Pro]+[Leu577Pro] IPNMDB_770 phenoCommon dHMN VI or SMARD1 IPNMDB_770 commonName c.[1091T>C]+[2436delT] IPNMDB_770 alias [Leu364Pro]+[Pro812fs] IPNMDB_753 phenoCommon dHMN VI or SMARD1 IPNMDB_753 commonName c.[1107C>G]+[256+?_1061-?del] IPNMDB_753 alias [Phe369Leu]+[Gly86_Thr353del] IPNMDB_891 phenoCommon dHMN VI or SMARD1 IPNMDB_891 commonName c.[1156T>C]+[1813C>T] IPNMDB_891 alias [Trp386Arg]+[Arg605X] IPNMDB_894 phenoCommon dHMN VI or SMARD1 IPNMDB_894 commonName c.[1218delC]+[1708C>T] IPNMDB_894 alias [Thr407fs]+[Arg570X] IPNMDB_892 phenoCommon dHMN VI or SMARD1 IPNMDB_892 commonName c.[1235+3A>G]+[1334A>C] IPNMDB_892 alias [Ala355fs]+[His445Pro] IPNMDB_547 phenoCommon Severe infantile neuropathy with diaphragmatic weakness IPNMDB_547 commonName c.1463delT IPNMDB_547 alias [Leu488fs]+[Leu488fs] IPNMDB_754 phenoCommon dHMN VI or SMARD1 IPNMDB_754 commonName c.1488C>A IPNMDB_754 alias [Cys496X]+[Cys496X] IPNMDB_763 phenoCommon dHMN VI or SMARD1 IPNMDB_763 commonName c.[1488C>A]+[1748A>T] IPNMDB_763 alias [Cys496X]+[Asn583Ile] IPNMDB_762 phenoCommon dHMN VI or SMARD1 IPNMDB_762 commonName c.[1488C>A]+[1808G>A] IPNMDB_762 alias [Cys496X]+[Arg603His] IPNMDB_664 phenoCommon dHMN VI or SMARD1 IPNMDB_664 commonName c.[1488C>A]+[?] IPNMDB_664 alias [Cys496X]+[?] IPNMDB_543 phenoCommon dHMN VI or SMARD1 IPNMDB_543 commonName c.1540G>A IPNMDB_543 alias [Glu514Lys]+[Glu514Lys] IPNMDB_771 phenoCommon dHMN VI or SMARD1 IPNMDB_771 commonName c.[1693G>A]+[1730T>C] IPNMDB_771 alias [Asp565Asn]+[Leu577Pro] IPNMDB_759 phenoCommon dHMN VI or SMARD1 IPNMDB_759 commonName c.[1714_1716delAAG]+[2922T>G] IPNMDB_759 alias [Lys572del]+[Asp974Glu] IPNMDB_545 phenoCommon dHMN VI or SMARD1 IPNMDB_545 commonName c.1738G>A IPNMDB_545 alias [Val580Ile]+[Val580Ile] IPNMDB_877 phenoCommon dHMN VI or SMARD1 IPNMDB_877 commonName c.[1738G>A]+[2356delG] IPNMDB_877 alias [V580I]+[A786fs] IPNMDB_772 phenoCommon dHMN VI or SMARD1 IPNMDB_772 commonName c.[1756G>T]+[1909C>T] IPNMDB_772 alias [Gly586Cys]+[Arg637Cys] IPNMDB_760 phenoCommon dHMN VI or SMARD1 IPNMDB_760 commonName c.[2362C>T]+[?] IPNMDB_760 alias [Arg788X]+[?] IPNMDB_549 phenoCommon dHMN VI or SMARD1 IPNMDB_549 commonName c.2611+1G>T IPNMDB_549 alias [5'-splice site]+[5'-splice site] IPNMDB_744 phenoCommon dHMN VI or SMARD1/polymorphism IPNMDB_744 commonName c.2636C>A IPNMDB_744 alias [Thr879Lys]+[Thr879Lys] IPNMDB_552 phenoCommon - (polymorphism) IPNMDB_552 commonName c.2636C>A IPNMDB_552 alias Thr879Lys IPNMDB_553 phenoCommon - (polymorphism) IPNMDB_553 commonName c.2784+54G>A IPNMDB_514 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_514 commonName c.[2087G>C]+[2204+6T>C] IPNMDB_514 alias [Arg696Pro]+[5'-splice site (skipping ex20)] IPNMDB_513 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_513 commonName c.2204+6T>C IPNMDB_513 alias [5'-splice site]+[5'-splice site] IPNMDB_363 phenoCommon Familial dysautonomia or Riley-Day syndrome or HSN III IPNMDB_363 commonName c.[2204+6T>C]+[2741C>T] IPNMDB_363 alias [5'-splice-site]+[Pro914Leu] IPNMDB_705 phenoCommon CMT2 / polymorphism IPNMDB_705 commonName c.146C>T IPNMDB_705 alias Thr49Met IPNMDB_712 phenoCommon - (polymorphism) IPNMDB_712 commonName c.220+38T>C IPNMDB_407 phenoCommon - (polymorphism) IPNMDB_407 commonName c.222T>C IPNMDB_407 alias Ile74Ile IPNMDB_713 phenoCommon - (polymorphism) IPNMDB_713 commonName c.274A>G IPNMDB_713 alias Ile92Val IPNMDB_707 phenoCommon - (polymorphism) IPNMDB_707 commonName c.330C>T IPNMDB_707 alias Asn110Asn IPNMDB_859 phenoCommon CMT1 IPNMDB_859 commonName c.332C>G IPNMDB_859 alias Ala111Gly IPNMDB_640 phenoCommon CMT1 IPNMDB_640 commonName c.334G>A IPNMDB_640 alias Gly112Ser IPNMDB_639 phenoCommon CMT1 IPNMDB_639 commonName c.344C>A IPNMDB_639 alias Thr115Asn IPNMDB_641 phenoCommon CMT1 IPNMDB_641 commonName c.346T>G IPNMDB_641 alias Trp116Gly IPNMDB_704 phenoCommon CMT1 IPNMDB_704 commonName c.364C>G IPNMDB_704 alias Leu122Val IPNMDB_714 phenoCommon - (polymorphism) IPNMDB_714 commonName c.378-29C>T IPNMDB_861 phenoCommon CMT1 IPNMDB_861 commonName c.403C>A IPNMDB_861 alias Pro135Thr IPNMDB_860 phenoCommon CMT1 IPNMDB_860 commonName c.403C>T IPNMDB_860 alias Pro135Ser IPNMDB_708 phenoCommon - (polymorphism) IPNMDB_708 commonName c.477G>A IPNMDB_708 alias Lys159Lys IPNMDB_709 phenoCommon - (polymorphism) IPNMDB_709 commonName c.539C>G IPNMDB_709 alias 3'UTR IPNMDB_710 phenoCommon - (polymorphism) IPNMDB_710 commonName c.585C>T IPNMDB_710 alias 3'UTR IPNMDB_711 phenoCommon - (polymorphism) IPNMDB_711 commonName c.629C>T IPNMDB_711 alias 3'UTR IPNMDB_706 phenoCommon CMT1 IPNMDB_706 commonName c.671T>C IPNMDB_706 alias 3'UTR IPNMDB_690 phenoCommon CMT2 + muscular dystrophy+ cardiac disease + leuconichia IPNMDB_690 commonName c.99G>T IPNMDB_690 alias Glu33Asp IPNMDB_567 phenoCommon CMT2 IPNMDB_567 commonName c.892C>T IPNMDB_567 alias [Arg298Cys]+[Arg298Cys] IPNMDB_938 phenoCommon scapuloperoneal myopathy and axonal neuropathy IPNMDB_938 commonName c.1711C>T IPNMDB_938 alias Arg571Cys IPNMDB_876 phenoCommon CMT2 IPNMDB_876 commonName c.134A>G IPNMDB_876 alias Gln45Arg IPNMDB_387 phenoCommon CMT2 + tremor, fatigue IPNMDB_387 commonName c.205G>T IPNMDB_387 alias Val69Phe IPNMDB_383 phenoCommon CMT2 IPNMDB_383 commonName c.227T>C IPNMDB_383 alias Leu76Pro IPNMDB_784 phenoCommon CMT2 IPNMDB_784 commonName c.275T>C IPNMDB_784 alias Leu92Pro IPNMDB_391 phenoCommon CMT2 (+ optic atrophy + migraine) IPNMDB_391 commonName c.280C>T IPNMDB_391 alias Arg94Trp IPNMDB_386 phenoCommon CMT2 + tremor IPNMDB_386 commonName c.281G>A IPNMDB_386 alias Arg94Gln IPNMDB_785 phenoCommon CMT2 IPNMDB_785 commonName c.299C>G IPNMDB_785 alias Ala100Gly IPNMDB_390 phenoCommon CMT2 + ataxia, scoliosis IPNMDB_390 commonName c.314C>T IPNMDB_390 alias Thr105Met IPNMDB_786 phenoCommon CMT2 IPNMDB_786 commonName c.368C>T IPNMDB_786 alias Pro123Leu IPNMDB_817 phenoCommon CMT2 IPNMDB_817 commonName c.380G>A IPNMDB_817 alias Gly127Asp IPNMDB_839 phenoCommon CMT2 IPNMDB_839 commonName c.380G>T IPNMDB_839 alias Gly127Val IPNMDB_844 phenoCommon CMT2 + pyramidal signs IPNMDB_844 commonName c.493C>G IPNMDB_844 alias His165Asp IPNMDB_788 phenoCommon CMT2 IPNMDB_788 commonName c.493C>T IPNMDB_788 alias His165Tyr IPNMDB_787 phenoCommon CMT2 IPNMDB_787 commonName c.494A>G IPNMDB_787 alias His165Arg IPNMDB_797 phenoCommon CMT2 + optic atrophy IPNMDB_797 commonName c.617C>T IPNMDB_797 alias Thr206Ile IPNMDB_822 phenoCommon CMT2 IPNMDB_822 commonName c.638T>C IPNMDB_822 alias Ile213Thr IPNMDB_715 phenoCommon CMT1 IPNMDB_715 commonName c.669T>A IPNMDB_715 alias Phe223Leu IPNMDB_716 phenoCommon CMT2 IPNMDB_716 commonName c.707C>T IPNMDB_716 alias Thr236Met IPNMDB_717 phenoCommon CMT2 IPNMDB_717 commonName c.730G>A IPNMDB_717 alias Val244Met IPNMDB_789 phenoCommon CMT2 IPNMDB_789 commonName c.[748C>T]+[1198C>T] IPNMDB_789 alias Arg250Trp+Arg400X IPNMDB_790 phenoCommon CMT2 IPNMDB_790 commonName c.749G>A IPNMDB_790 alias Arg250Gln IPNMDB_385 phenoCommon CMT2 + tremor IPNMDB_385 commonName c.751C>G IPNMDB_385 alias Pro251Ala IPNMDB_818 phenoCommon CMT2 IPNMDB_818 commonName c.787T>C IPNMDB_818 alias Ser263Pro IPNMDB_821 phenoCommon CMT2 IPNMDB_821 commonName c.818T>G IPNMDB_821 alias Val273Gly IPNMDB_389 phenoCommon CMT2 IPNMDB_389 commonName c.821G>A IPNMDB_389 alias Arg274Gln IPNMDB_798 phenoCommon CMT2 + optic atrophy IPNMDB_798 commonName c.827A>G IPNMDB_798 alias Gln276Arg IPNMDB_791 phenoCommon CMT2 IPNMDB_791 commonName c.830A>G IPNMDB_791 alias His277Arg IPNMDB_384 phenoCommon CMT2 IPNMDB_384 commonName c.839G>A IPNMDB_384 alias Arg280His IPNMDB_718 phenoCommon CMT2 IPNMDB_718 commonName c.851T>A IPNMDB_718 alias Phe284Tyr IPNMDB_824 phenoCommon - (polymorphism) IPNMDB_824 commonName c.892G>A IPNMDB_824 alias Gly298Arg IPNMDB_823 phenoCommon - (polymorphism) IPNMDB_823 commonName c.957C>T IPNMDB_823 alias Gly319Gly IPNMDB_840 phenoCommon CMT2 IPNMDB_840 commonName c.1040A>T IPNMDB_840 alias Glu347Val IPNMDB_846 phenoCommon CMT2 IPNMDB_846 commonName c.1048T>C IPNMDB_846 alias Ser350Pro IPNMDB_719 phenoCommon CMT2 IPNMDB_719 commonName c.1071G>C IPNMDB_719 alias Lys357Asn IPNMDB_799 phenoCommon CMT2 + optic atrophy IPNMDB_799 commonName c.1081C>T IPNMDB_799 alias His361Tyr IPNMDB_819 phenoCommon CMT2 IPNMDB_819 commonName c.1085C>T IPNMDB_819 alias Thr362Met IPNMDB_800 phenoCommon CMT2 + optic atrophy IPNMDB_800 commonName c.1090C>T IPNMDB_800 alias Arg364Trp IPNMDB_820 phenoCommon CMT2 IPNMDB_820 commonName c.1127T>C IPNMDB_820 alias Met376Thr IPNMDB_792 phenoCommon CMT2 IPNMDB_792 commonName c.1128G>A IPNMDB_792 alias Met376Ile IPNMDB_793 phenoCommon CMT2 IPNMDB_793 commonName c.1134_1142delCCTGCACAT IPNMDB_793 alias Leu379_Met381del IPNMDB_919 phenoCommon CMT2 IPNMDB_919 commonName c.1148C>T IPNMDB_919 alias Ala383Val IPNMDB_794 phenoCommon CMT2 IPNMDB_794 commonName c.[1157A>C;1158G>T] IPNMDB_794 alias Gln386Pro IPNMDB_388 phenoCommon CMT2 + optic atrophy IPNMDB_388 commonName c.1252C>T IPNMDB_388 alias Arg418X IPNMDB_720 phenoCommon CMT2 IPNMDB_720 commonName c.1271A>G IPNMDB_720 alias Glu424Gly IPNMDB_841 phenoCommon CMT2 / - (polymorphism) IPNMDB_841 commonName c.1403G>A IPNMDB_841 alias Arg468His IPNMDB_842 phenoCommon CMT2 / - (polymorphism) IPNMDB_842 commonName c.2113G>A IPNMDB_842 alias Val705Ile IPNMDB_795 phenoCommon CMT2 IPNMDB_795 commonName c.2129T>C IPNMDB_795 alias Leu710Pro IPNMDB_382 phenoCommon CMT2 IPNMDB_382 commonName c.2219G>C IPNMDB_382 alias Trp740Ser IPNMDB_796 phenoCommon CMT2 IPNMDB_796 commonName c.2251C>T IPNMDB_796 alias Gln751X IPNMDB_843 phenoCommon CMT2 IPNMDB_843 commonName c.2258_2259insT IPNMDB_843 alias Leu753fs IPNMDB_573 phenoCommon - (polymorphism) IPNMDB_573 commonName c.24C>T IPNMDB_573 alias Ser8Ser IPNMDB_849 phenoCommon CMT2 IPNMDB_849 commonName c.59C>T IPNMDB_849 alias Ser20Phe IPNMDB_340 phenoCommon CMT1 IPNMDB_340 commonName c.88_90delATCinsGGGGTTTACACC IPNMDB_340 alias Ile30delinsGlyValTyrThr IPNMDB_851 phenoCommon DSS IPNMDB_851 commonName c.89T>C IPNMDB_851 alias Ile30Thr IPNMDB_39 phenoCommon CMT1 IPNMDB_39 commonName c.90C>G IPNMDB_39 alias Ile30Met IPNMDB_40 phenoCommon CMT1-severe IPNMDB_40 commonName c.94G>T IPNMDB_40 alias Val32Phe IPNMDB_41 phenoCommon CMT1 IPNMDB_41 commonName c.101C>T IPNMDB_41 alias Thr34Ile IPNMDB_353 phenoCommon CMT1/2 IPNMDB_353 commonName c.103G>T IPNMDB_353 alias Asp35Tyr IPNMDB_831 phenoCommon CMT2 + pain IPNMDB_831 commonName c.106A>T IPNMDB_831 alias Arg36Trp IPNMDB_666 phenoCommon CMT1/2 (+ hearing loss + restless legs) IPNMDB_666 commonName c.116A>C IPNMDB_666 alias His39Pro IPNMDB_376 phenoCommon DSS IPNMDB_376 commonName c.[123_125delTGT]+[661G>A] IPNMDB_376 alias [Val42del]+[Ala221Thr] IPNMDB_42 phenoCommon CMT2 IPNMDB_42 commonName c.131C>T IPNMDB_42 alias Ser44Phe IPNMDB_429 phenoCommon - (polymorphism) IPNMDB_429 commonName c.134G>A IPNMDB_429 alias Arg45Gln IPNMDB_832 phenoCommon CMT1 IPNMDB_832 commonName c.143T>C IPNMDB_832 alias Leu48Pro IPNMDB_667 phenoCommon CMT1 IPNMDB_667 commonName c.149_175del27 IPNMDB_667 alias Cys50_Val58del IPNMDB_489 phenoCommon CMT1 IPNMDB_489 commonName c.152C>T IPNMDB_489 alias Ser51Phe IPNMDB_339 phenoCommon CMT1 IPNMDB_339 commonName c.160T>C IPNMDB_339 alias Ser54Pro IPNMDB_43 phenoCommon CMT1-severe IPNMDB_43 commonName c.161C>G IPNMDB_43 alias Ser54Cys IPNMDB_412 phenoCommon CMT2 IPNMDB_412 commonName c.166G>A IPNMDB_412 alias Glu56Lys IPNMDB_44 phenoCommon CMT1 IPNMDB_44 commonName c.172G>T IPNMDB_44 alias Val58Phe IPNMDB_670 phenoCommon CMT1 IPNMDB_670 commonName c.173T>A IPNMDB_670 alias Val58Asp IPNMDB_415 phenoCommon CMT2 IPNMDB_415 commonName c.178G>C IPNMDB_415 alias Asp60His IPNMDB_506 phenoCommon CMT1/2 IPNMDB_506 commonName c.181G>A IPNMDB_506 alias Asp61Asn IPNMDB_332 phenoCommon CMT2 IPNMDB_332 commonName c.182A>G IPNMDB_332 alias Asp61Gly IPNMDB_45 phenoCommon CMT1 with focally folded myelin IPNMDB_45 commonName c.184A>T IPNMDB_45 alias Ile62Phe IPNMDB_416 phenoCommon CMT2 IPNMDB_416 commonName c.186C>G IPNMDB_416 alias Ile62Met IPNMDB_46 phenoCommon DSS IPNMDB_46 commonName c.188C>G IPNMDB_46 alias Ser63Cys IPNMDB_47 phenoCommon CMT1 IPNMDB_47 commonName c.188C>T IPNMDB_47 alias Ser63Phe IPNMDB_48 phenoCommon CMT1 IPNMDB_48 commonName c.188_190delCCT IPNMDB_48 alias Ser63del IPNMDB_49 phenoCommon CMT1 (htz) / DSS (hmz) IPNMDB_49 commonName c.190_192delTTC IPNMDB_49 alias Phe64del IPNMDB_411 phenoCommon CMT1with focally folded myelin IPNMDB_411 commonName c.193A>G IPNMDB_411 alias Thr65Ala IPNMDB_683 phenoCommon CMT1 IPNMDB_683 commonName c.194C>A IPNMDB_683 alias Thr65Asn IPNMDB_626 phenoCommon CMT1 IPNMDB_626 commonName c.194C>T IPNMDB_626 alias Thr65Ile IPNMDB_777 phenoCommon CMT1 IPNMDB_777 commonName c.200G>C IPNMDB_777 alias Arg67Pro IPNMDB_50 phenoCommon CMT1-severe IPNMDB_50 commonName c.203A>G IPNMDB_50 alias Tyr68Cys IPNMDB_912 phenoCommon CMT2 IPNMDB_912 commonName c.208C>T IPNMDB_912 alias Pro70Ser IPNMDB_51 phenoCommon CMT1 IPNMDB_51 commonName c.223delG IPNMDB_51 alias Asp75fs IPNMDB_470 phenoCommon CMT2 IPNMDB_470 commonName c.224A>T IPNMDB_470 alias Asp75Val IPNMDB_333 phenoCommon CMT2 / polymorphism IPNMDB_333 commonName c.227C>T IPNMDB_333 alias Ala76Val IPNMDB_370 phenoCommon CMT1 IPNMDB_370 commonName c.233C>G IPNMDB_370 alias Ser78Trp IPNMDB_52 phenoCommon CMT1-severe (focally folded myelin) IPNMDB_52 commonName c.233C>T IPNMDB_52 alias Ser78Leu IPNMDB_505 phenoCommon CMT1 IPNMDB_505 commonName c.211G>T IPNMDB_505 alias Glu71X IPNMDB_338 phenoCommon CMT1 IPNMDB_338 commonName c.[241C>T;337G>T] IPNMDB_338 alias [His81Tyr;Val113Phe] IPNMDB_53 phenoCommon CMT1-severe (+ trigeminal nerve thickening) IPNMDB_53 commonName c.242A>G IPNMDB_53 alias His81Arg IPNMDB_850 phenoCommon CMT2 IPNMDB_850 commonName c.244T>C IPNMDB_850 alias Tyr82His IPNMDB_54 phenoCommon CMT1 / DSS IPNMDB_54 commonName c.245A>G IPNMDB_54 alias Tyr82Cys IPNMDB_55 phenoCommon DSS IPNMDB_55 commonName c.258_265delACCCTACAinsCCTCT IPNMDB_55 alias Gln86_Ile89delinsHisLeuPhe IPNMDB_371 phenoCommon CMT2 IPNMDB_371 commonName c.266T>A+274G>A+486C>G IPNMDB_371 alias Ile89Asn+Val92Met+Ile162Met IPNMDB_56 phenoCommon CMT1 IPNMDB_56 commonName c.270C>A IPNMDB_56 alias Asp90Glu IPNMDB_97 phenoCommon - (polymorphism) IPNMDB_97 commonName c.276G>A IPNMDB_97 alias Val92Val IPNMDB_57 phenoCommon CMT1 IPNMDB_57 commonName c.278G>A IPNMDB_57 alias Gly93Glu IPNMDB_58 phenoCommon CMT1 IPNMDB_58 commonName c.286A>G IPNMDB_58 alias Lys96Glu IPNMDB_542 phenoCommon CMT2 and deafness and pupillary abnormalities IPNMDB_542 commonName c.290A>T IPNMDB_542 alias Glu97Val IPNMDB_61 phenoCommon CMT1 IPNMDB_61 commonName c.292C>A IPNMDB_61 alias Arg98Ser IPNMDB_59 phenoCommon CMT1-severe / DSS IPNMDB_59 commonName c.292C>T IPNMDB_59 alias Arg98Cys IPNMDB_60 phenoCommon CMT1 IPNMDB_60 commonName c.293G>A IPNMDB_60 alias Arg98His IPNMDB_62 phenoCommon CMT1 IPNMDB_62 commonName c.293G>C IPNMDB_62 alias Arg98Pro IPNMDB_63 phenoCommon CMT1 / CIDP IPNMDB_63 commonName c.296T>C IPNMDB_63 alias Ile99Thr IPNMDB_64 phenoCommon CMT1 IPNMDB_64 commonName c.303G>C IPNMDB_64 alias Trp101Cys IPNMDB_65 phenoCommon CMT1 (htz) / DSS (hmz) IPNMDB_65 commonName c.306delA IPNMDB_65 alias Val102fs IPNMDB_578 phenoCommon CMT1 IPNMDB_578 commonName c.308G>A IPNMDB_578 alias Gly103Glu IPNMDB_901 phenoCommon CMT2 + hearing impairment IPNMDB_901 commonName c.313C>A IPNMDB_901 alias Pro105Thr IPNMDB_421 phenoCommon CMT1 IPNMDB_421 commonName c.325G>A IPNMDB_421 alias Asp109Asn IPNMDB_414 phenoCommon CMT2 IPNMDB_414 commonName c.327T>A IPNMDB_414 alias Asp109Glu IPNMDB_560 phenoCommon DSS IPNMDB_560 commonName c.329G>A IPNMDB_560 alias Gly110Asp IPNMDB_66 phenoCommon CMT1-severe IPNMDB_66 commonName c.335T>C IPNMDB_66 alias Ile112Thr IPNMDB_627 phenoCommon - (polymorphism) IPNMDB_627 commonName c.337G>A IPNMDB_627 alias Val113Ile IPNMDB_67 phenoCommon DSS IPNMDB_67 commonName c.[341T>C;346A>C;382G>A] IPNMDB_67 alias [Ile114Thr;Asn116His;Asp128Asn] IPNMDB_722 phenoCommon CMT2 IPNMDB_722 commonName c.352G>A IPNMDB_722 alias Asp118Asn IPNMDB_68 phenoCommon DSS IPNMDB_68 commonName c.355_356insTCTACT IPNMDB_68 alias Asp118_Tyr119insPheTyr IPNMDB_331 phenoCommon CMT2 IPNMDB_331 commonName c.356A>G IPNMDB_331 alias Tyr119Cys IPNMDB_69 phenoCommon CMT1 IPNMDB_69 commonName c.365A>G IPNMDB_69 alias Asn122Ser IPNMDB_372 phenoCommon DSS IPNMDB_372 commonName c.367G>T IPNMDB_372 alias Gly123Cys IPNMDB_776 phenoCommon CMT1 IPNMDB_776 commonName c.367G>A IPNMDB_776 alias Gly123Ser IPNMDB_413 phenoCommon CH IPNMDB_413 commonName c.371C>A IPNMDB_413 alias Thr124Lys IPNMDB_70 phenoCommon CMT1/2 (+ pupillary abnormalities + deafness + chronic cough) IPNMDB_70 commonName c.371C>T IPNMDB_70 alias Thr124Met IPNMDB_71 phenoCommon DSS IPNMDB_71 commonName c.372_377delGTTCAC IPNMDB_71 alias Phe125_Thr126del IPNMDB_72 phenoCommon DSS IPNMDB_72 commonName c.380G>A IPNMDB_72 alias Cys127Tyr IPNMDB_418 phenoCommon CMT1 IPNMDB_418 commonName c.382G>A IPNMDB_418 alias Asp128Asn IPNMDB_73 phenoCommon CMT1 IPNMDB_73 commonName c.384C>G IPNMDB_73 alias Asp128Glu IPNMDB_74 phenoCommon CMT1 / DSS IPNMDB_74 commonName c.389A>G IPNMDB_74 alias Lys130Arg IPNMDB_424 phenoCommon CMT1 (Roussy-Lévy syndrome) (+ focally folded myelin sheaths) IPNMDB_424 commonName c.393C>A IPNMDB_424 alias Asn131Lys IPNMDB_75 phenoCommon CMT1 IPNMDB_75 commonName c.395C>T IPNMDB_75 alias Pro132Leu IPNMDB_77 phenoCommon CMT1 IPNMDB_77 commonName c.400G>A IPNMDB_77 alias Asp134Asn IPNMDB_341 phenoCommon CMT1 IPNMDB_341 commonName c.401A>G IPNMDB_341 alias Asp134Gly IPNMDB_76 phenoCommon CMT1 IPNMDB_76 commonName c.402C>A IPNMDB_76 alias Asp134Glu IPNMDB_78 phenoCommon CMT1 IPNMDB_78 commonName c.403A>C IPNMDB_78 alias Ile135Leu IPNMDB_79 phenoCommon CMT1 / DSS IPNMDB_79 commonName c.404T>C IPNMDB_79 alias Ile135Thr IPNMDB_373 phenoCommon DSS IPNMDB_373 commonName c.407T>A IPNMDB_373 alias Val136Glu IPNMDB_80 phenoCommon CMT1 IPNMDB_80 commonName c.409G>A IPNMDB_80 alias Gly137Ser IPNMDB_342 phenoCommon CMT1 IPNMDB_342 commonName c.414G>C IPNMDB_342 alias Lys138Asn IPNMDB_343 phenoCommon CMT1 IPNMDB_343 commonName c.416C>A IPNMDB_343 alias Thr139Asn IPNMDB_575 phenoCommon CMT1 IPNMDB_575 commonName c.418T>A IPNMDB_575 alias Ser140Thr IPNMDB_490 phenoCommon CMT2 IPNMDB_490 commonName c.421C>T IPNMDB_490 alias Gln141X IPNMDB_81 phenoCommon CMT1 IPNMDB_81 commonName c.428C>T IPNMDB_81 alias Thr143Met IPNMDB_362 phenoCommon CMT1/2 (+ deafness) (+pupillary abnormalities in hmz) IPNMDB_362 commonName c.434A>C IPNMDB_362 alias Tyr145Ser IPNMDB_439 phenoCommon CMT1 IPNMDB_439 commonName c.436G>T IPNMDB_439 alias Val146Phe IPNMDB_82 phenoCommon CMT1 IPNMDB_82 commonName c.449-1G>C IPNMDB_82 alias 3'-splice site IPNMDB_723 phenoCommon CMT1 IPNMDB_723 commonName c.449-1G>T IPNMDB_723 alias 3' splice site IPNMDB_83 phenoCommon CMT1 IPNMDB_83 commonName c.462C>A IPNMDB_83 alias Tyr154X IPNMDB_84 phenoCommon CMT1 IPNMDB_84 commonName c.487G>A IPNMDB_84 alias Gly163Arg IPNMDB_86 phenoCommon DSS IPNMDB_86 commonName c.[496delC;499G>C] IPNMDB_86 alias Leu166fs IPNMDB_85 phenoCommon CMT1 / DSS / CH IPNMDB_85 commonName c.499G>A IPNMDB_85 alias Gly167Arg IPNMDB_426 phenoCommon DSS IPNMDB_426 commonName c.506delT IPNMDB_426 alias Val169fs IPNMDB_88 phenoCommon DSS IPNMDB_88 commonName c.522_525delGCTT IPNMDB_88 alias Leu174fs IPNMDB_89 phenoCommon CMT1 IPNMDB_89 commonName c.543C>G IPNMDB_89 alias Tyr181X IPNMDB_922 phenoCommon CH IPNMDB_922 commonName c.549_550insG IPNMDB_922 alias Leu184fs IPNMDB_369 phenoCommon CH + cranial nerve dysfunction + respiratory failure + hypertrophic cardiomyopathy IPNMDB_369 commonName c.550_552delCTAinsG IPNMDB_369 alias Leu184fs IPNMDB_90 phenoCommon CMT1 IPNMDB_90 commonName c.554delG IPNMDB_90 alias Arg185fs IPNMDB_87 phenoCommon DSS IPNMDB_87 commonName c.563_564insAGGC IPNMDB_87 alias Ala188fs IPNMDB_699 phenoCommon CMT1 IPNMDB_699 commonName c.570delG IPNMDB_699 alias Leu190fs IPNMDB_848 phenoCommon CMT1 IPNMDB_848 commonName c.584+2T>G IPNMDB_848 alias 5'-splice site IPNMDB_98 phenoCommon - (polymorphism) IPNMDB_98 commonName c.600G>A IPNMDB_98 alias Gly200Gly IPNMDB_91 phenoCommon CMT1 IPNMDB_91 commonName c.614_615insGGGAAATTGCACAAGCC IPNMDB_91 alias Pro205fs IPNMDB_430 phenoCommon CMT1 IPNMDB_430 commonName c.616G>T IPNMDB_430 alias Gly206X IPNMDB_557 phenoCommon -(polymorphism IPNMDB_557 commonName c.637G>C IPNMDB_557 alias Gly213Arg IPNMDB_92 phenoCommon CH IPNMDB_92 commonName c.643C>T IPNMDB_92 alias Gln215X IPNMDB_684 phenoCommon CMT1 IPNMDB_684 commonName c.645+1G>T IPNMDB_684 alias 5'-splice site IPNMDB_93 phenoCommon DSS IPNMDB_93 commonName c.662_663insGC IPNMDB_93 alias Ala221fs IPNMDB_94 phenoCommon CMT1 IPNMDB_94 commonName c.676_677insCA IPNMDB_94 alias Ser226fs IPNMDB_99 phenoCommon - (polymorphism) IPNMDB_99 commonName c.684C>T IPNMDB_99 alias Ser228Ser IPNMDB_95 phenoCommon CMT1-severe IPNMDB_95 commonName c.699_702delTGAG IPNMDB_95 alias Ser233fs IPNMDB_576 phenoCommon CMT1/CMT2 IPNMDB_576 commonName c.706_708delAAG IPNMDB_576 alias Lys236del IPNMDB_724 phenoCommon CMT2 IPNMDB_724 commonName c.706A>G IPNMDB_724 alias Lys236Glu IPNMDB_100 phenoCommon - (polymorphism) IPNMDB_100 commonName c.731G>T IPNMDB_100 alias Arg244Leu IPNMDB_493 phenoCommon - (polymorphism) IPNMDB_493 commonName c.8C>A IPNMDB_493 alias Thr3Lys IPNMDB_498 commonName c.[298G>A]+[?] IPNMDB_498 alias [Ala100Thr]+[?] IPNMDB_502 phenoCommon CMT4B IPNMDB_502 commonName c.308G>A IPNMDB_502 alias [Gly103Glu]+[Gly103Glu] IPNMDB_503 phenoCommon CMT4B IPNMDB_503 commonName c.324delG IPNMDB_503 alias [Thr108fs]+[Thr108fs] IPNMDB_735 phenoCommon CMT4B IPNMDB_735 commonName c.681_682ins446 IPNMDB_735 alias Thr228fs IPNMDB_736 phenoCommon CMT4B IPNMDB_736 commonName c.[841_844delATCA]+[?] IPNMDB_736 alias [Ile281fs]+[?] IPNMDB_634 phenoCommon CMT4B IPNMDB_634 commonName c.847C>T IPNMDB_634 alias [Arg283Trp]+[Arg283Trp] IPNMDB_495 phenoCommon - (polymorphism) IPNMDB_495 commonName c.1131T>C IPNMDB_495 alias Thr377Thr IPNMDB_496 phenoCommon - (polymorphism) IPNMDB_496 commonName c.1233G>A IPNMDB_496 alias Thr411Thr IPNMDB_501 phenoCommon - (polymorphism) IPNMDB_501 commonName c.1233G>T IPNMDB_501 alias Thr411Thr IPNMDB_432 phenoCommon CMT4B IPNMDB_432 commonName c.1276C>T IPNMDB_432 alias [Gln426X]+[Gln426X] IPNMDB_434 phenoCommon CMT4B IPNMDB_434 commonName c.1444C>T IPNMDB_434 alias [Gln482X]+[Arg477X] IPNMDB_497 phenoCommon - (polymorphism) IPNMDB_497 commonName c.1504G>C IPNMDB_497 alias Glu502Gln IPNMDB_499 phenoCommon CH IPNMDB_499 commonName c.[1634A>G]+[?] IPNMDB_499 alias [Asn545Ser]+[?] IPNMDB_779 phenoCommon CMT4B IPNMDB_779 commonName c.1749G>A IPNMDB_779 alias Trp583X IPNMDB_500 phenoCommon CH IPNMDB_500 commonName c.[1805C>G]+[?] IPNMDB_500 alias [Ala602Gly]+[?] IPNMDB_436 phenoCommon HMSN-L IPNMDB_436 commonName c.442C>T IPNMDB_436 alias [Arg148X]+[Arg148X] IPNMDB_33 phenoCommon HMSN-L IPNMDB_33 commonName c.538-1G>A IPNMDB_33 alias [3'-splice site]+[3'-splice site] IPNMDB_594 phenoCommon unspecified CMT IPNMDB_594 commonName c.[19G>A]+[23C>G] IPNMDB_594 alias [Glu7Lys]+[Pro8Arg] IPNMDB_520 phenoCommon CMT2 IPNMDB_520 commonName c.[22C>A;23C>G] IPNMDB_520 alias Pro8Arg IPNMDB_597 phenoCommon CMT1 IPNMDB_597 commonName c.23C>A IPNMDB_597 alias Pro8Gln IPNMDB_595 phenoCommon CMT1 or CMT1/2 IPNMDB_595 commonName c.23C>G IPNMDB_595 alias Pro8Arg IPNMDB_596 phenoCommon CMT1 IPNMDB_596 commonName c.23C>T IPNMDB_596 alias Pro8Leu IPNMDB_863 phenoCommon CMT1 IPNMDB_863 commonName c.48_60dupGCGCTACGTGGAG IPNMDB_863 alias Thr21fs IPNMDB_586 phenoCommon CMT1 IPNMDB_586 commonName c.64C>A IPNMDB_586 alias Pro22Thr IPNMDB_583 phenoCommon CMT1/2 IPNMDB_583 commonName c.64C>T IPNMDB_583 alias Pro22Ser IPNMDB_602 phenoCommon - (polymorphism) IPNMDB_602 commonName c.192G>A IPNMDB_602 alias Leu64Leu IPNMDB_591 phenoCommon - (polymorphism) IPNMDB_591 commonName c.227T>C IPNMDB_591 alias Val76Ala IPNMDB_598 phenoCommon CMT1 IPNMDB_598 commonName c.268G>A IPNMDB_598 alias Glu90Lys IPNMDB_592 phenoCommon - (polymorphism) IPNMDB_592 commonName c.279G>A IPNMDB_592 alias Gln93Gln IPNMDB_913 phenoCommon CMT1/2 IPNMDB_913 commonName c.281T>C IPNMDB_913 alias Leu94Pro IPNMDB_588 phenoCommon CMT1 IPNMDB_588 commonName c.293A>G IPNMDB_588 alias Asn98Ser IPNMDB_603 phenoCommon - (polymorphism) IPNMDB_603 commonName c.423G>A IPNMDB_603 alias Gln141Gln IPNMDB_589 phenoCommon unspecified CMT IPNMDB_589 commonName c.446C>T IPNMDB_589 alias Ala149Val IPNMDB_816 phenoCommon - (polymorphism) IPNMDB_816 commonName c.639C>G IPNMDB_816 alias Ile213Met IPNMDB_604 phenoCommon - (polymorphism) IPNMDB_604 commonName c.667C>T IPNMDB_604 alias Leu223Leu IPNMDB_605 phenoCommon - (polymorphism) IPNMDB_605 commonName c.720C>T IPNMDB_605 alias Tyr240Tyr IPNMDB_437 phenoCommon CMT2 IPNMDB_437 commonName c.995A>C IPNMDB_437 alias Gln332Pro IPNMDB_728 phenoCommon CMT2 IPNMDB_728 commonName c.998T>C IPNMDB_728 alias Leu333Pro IPNMDB_417 phenoCommon CMT1 / CMT2 IPNMDB_417 commonName c.1186G>A IPNMDB_417 alias Glu396Lys IPNMDB_606 phenoCommon - (polymorphism) IPNMDB_606 commonName c.1212C>T IPNMDB_606 alias Ser404Ser IPNMDB_607 phenoCommon - (polymorphism) IPNMDB_607 commonName c.1402G>A IPNMDB_607 alias Asp468Asn IPNMDB_608 phenoCommon - (polymorphism) IPNMDB_608 commonName c.1458C>T IPNMDB_608 alias Ala486Ala IPNMDB_593 phenoCommon - (polymorphism) IPNMDB_593 commonName c.1492G>A IPNMDB_593 alias Ala498Thr IPNMDB_748 phenoCommon -(polymorphism) IPNMDB_748 commonName c.1573_1574insG IPNMDB_748 alias Glu525fs IPNMDB_600 phenoCommon CMT1 / polymorphism IPNMDB_600 commonName c.1579_1581delGAG IPNMDB_600 alias Glu527del IPNMDB_396 phenoCommon HSAN V IPNMDB_396 commonName c.661C>T IPNMDB_396 alias [Arg221Trp]+[Arg221Trp] IPNMDB_442 phenoCommon CIPA or HSN IV (H406Y + G613V are polymorphisms) IPNMDB_442 commonName c.[25C>T;1810C>T;1838 G>T]+[25C>T; 1810C>T; 1838 G>T] IPNMDB_442 alias [Gln9X;His604Tyr.Gly613Val]+[Gln9X;His604Tyr.Gly613Val] IPNMDB_449 phenoCommon CIPA or HSN IV IPNMDB_449 commonName c.200delA IPNMDB_449 alias [Asn67fs]+[Asn67fs] IPNMDB_957 phenoCommon HSN IV IPNMDB_957 commonName c.207_208delTG IPNMDB_957 alias [Thr69fs]+[Thr69fs] IPNMDB_443 phenoCommon CIPA or HSN IV (R85S is a polymorphism) IPNMDB_443 commonName c.253C>A; 429-1G>C IPNMDB_443 alias [Arg85Ser; 3'-splice site]+[Arg85Ser; 3'-splice site] IPNMDB_454 phenoCommon CIPA or HSN IV IPNMDB_454 commonName c.278T>C IPNMDB_454 alias Leu93Pro IPNMDB_956 phenoCommon HSN IV IPNMDB_956 commonName c.[287+2_3insT]+[2155G>A] IPNMDB_956 alias [5'-splice site]+[Glu719Lys] IPNMDB_958 phenoCommon HSN IV IPNMDB_958 commonName c.354-359+3delTCGCCTGTG IPNMDB_806 phenoCommon CIPA or HSN IV IPNMDB_806 commonName c.359+5G>T IPNMDB_806 alias 5'-splice site (skipping exon 3 and skipping exons 2+3) IPNMDB_455 phenoCommon CIPA or HSN IV IPNMDB_455 commonName c.391_392delTC IPNMDB_455 alias [Ser131fs]+[Ser131fs] IPNMDB_456 phenoCommon CIPA or HSN IV IPNMDB_456 commonName c.490G>T IPNMDB_456 alias Glu164X IPNMDB_691 phenoCommon CIPA or HSN IV IPNMDB_691 commonName c.526C>T IPNMDB_691 alias [Gln176X]+[Gln176X] IPNMDB_805 phenoCommon CIPA or HSN IV IPNMDB_805 commonName c.543delG IPNMDB_805 alias Gly181fs IPNMDB_541 phenoCommon CIPA or HSN IV (H604Y + G613V are polymorphisms) IPNMDB_541 commonName c.[574+1G>A]+[1810C>T;1838G>T;1843G>T;1849G>T] IPNMDB_541 alias [5'-splice site]+[His604Tyr;Gly613Val;Glu615X;Val617Leu] IPNMDB_964 phenoCommon HSN IV IPNMDB_964 commonName c.496G>T IPNMDB_964 alias [Gly166X]+[Gly166X] IPNMDB_453 phenoCommon CIPA or HSN IV IPNMDB_453 commonName c.[638T>C]+[924_930delGCCGGCA] IPNMDB_453 alias [Leu213Pro]+[Gln308fs] IPNMDB_700 phenoCommon CIPA or HSN IV + tooth loss and palmar hyperkeratosis IPNMDB_700 commonName c.[638T>C]+[1556delG] IPNMDB_700 alias [Leu213Pro]+[Gly519fs IPNMDB_697 phenoCommon HS(A)N IPNMDB_697 commonName c.[717+1G>C]+[2144T>C] IPNMDB_697 alias [5'-splice site]+[Val715Ala] IPNMDB_451 phenoCommon CIPA or HSN IV IPNMDB_451 commonName c.850+1G>A IPNMDB_451 alias [5'-splice site]+[5'-splice site] IPNMDB_962 phenoCommon HSN IV IPNMDB_962 commonName c.722_723insC IPNMDB_962 alias [Ser241fs]+[Ser241fs] IPNMDB_457 phenoCommon CIPA or HSN IV IPNMDB_457 commonName c.851-33T>A IPNMDB_535 phenoCommon HSAN V IPNMDB_535 commonName c.1076A>G IPNMDB_535 alias [Tyr359Cys]+[Tyr359Cys] IPNMDB_458 phenoCommon CIPA or HSN IV IPNMDB_458 commonName c.1077C>A IPNMDB_458 alias Tyr359X IPNMDB_695 phenoCommon CIPA or HSN IV IPNMDB_695 commonName c.1196-1G>A IPNMDB_695 alias [3'-splice site]+[3'-splice site] IPNMDB_955 phenoCommon HSN IV IPNMDB_955 commonName c.[1218delC]+[851-33T>A] IPNMDB_693 phenoCommon CIPA or HSN IV IPNMDB_693 commonName c.1522_1523delCG IPNMDB_693 alias [Arg508fs]+[Arg508fs] IPNMDB_692 phenoCommon CIPA or HSN IV IPNMDB_692 commonName c.1531_1532insGGACATCG IPNMDB_692 alias [Val511fs]+[Val511fs] IPNMDB_835 phenoCommon CIPA or HSN IV IPNMDB_835 commonName c.[1555G>C]+[2303C>T] IPNMDB_835 alias [Gly519Arg]+[Pro768Leu] IPNMDB_459 phenoCommon CIPA or HSN IV IPNMDB_459 commonName c.1564G>A IPNMDB_459 alias Gly522Arg IPNMDB_966 phenoCommon HSN IV IPNMDB_966 commonName c.1633-1G>T IPNMDB_966 alias [3'-splice site]+[3'-splice site] IPNMDB_444 phenoCommon CIPA or HSN IV IPNMDB_444 commonName c.1660delC IPNMDB_444 alias [Arg554fs]+[Arg554fs] IPNMDB_960 phenoCommon HSN IV IPNMDB_960 commonName c.[1672C>T]+[2150T>G] IPNMDB_960 alias [Gln558X]+[Leu717Arg] IPNMDB_959 phenoCommon HSN IV IPNMDB_959 commonName c.1715T>G IPNMDB_959 alias [Ile572Ser]+[Ile572Ser] IPNMDB_445 phenoCommon CIPA or HSN IV IPNMDB_445 commonName c.1729G>C IPNMDB_445 alias [Gly577Arg]+[Gly577Arg] IPNMDB_460 phenoCommon CIPA or HSN IV IPNMDB_460 commonName c.1754delT IPNMDB_460 alias Leu585fs IPNMDB_461 phenoCommon CIPA or HSN IV IPNMDB_461 commonName c.1804C>T IPNMDB_461 alias Arg602X IPNMDB_538 phenoCommon - (polymorphism) IPNMDB_538 commonName c.1838G>T IPNMDB_538 alias [Gly613Val]+[Gly613Val] IPNMDB_1 phenoCommon CIPA or HSN IV IPNMDB_1 commonName c.1860_1861insT IPNMDB_1 alias [Pro621fs]+[Pro621fs] IPNMDB_804 phenoCommon CIPA or HSN IV IPNMDB_804 commonName c.1877_1878insA IPNMDB_804 alias Gln626fs IPNMDB_536 phenoCommon - (polymorphism) IPNMDB_536 commonName c.1887C>T IPNMDB_536 alias Ala629Ala IPNMDB_450 phenoCommon CIPA or HSN IV IPNMDB_450 commonName c.1945C>T IPNMDB_450 alias [Arg649Trp]+[Arg649Trp] IPNMDB_462 phenoCommon CIPA or HSN IV IPNMDB_462 commonName c.1960C>T IPNMDB_462 alias Arg654Cys IPNMDB_463 phenoCommon CIPA or HSN IV IPNMDB_463 commonName c.2002G>T IPNMDB_463 alias Asp674Tyr IPNMDB_446 phenoCommon CIPA or HSN IV IPNMDB_446 commonName c.2046+3A>C IPNMDB_446 alias [5'-splice site]+[5'-splice site] IPNMDB_540 phenoCommon - (polymorphism) IPNMDB_540 commonName c.2052A>G IPNMDB_540 alias [Gly684Gly]+[Gly684Gly] IPNMDB_539 phenoCommon CIPA or HSN IV IPNMDB_539 commonName c.2084C>T IPNMDB_539 alias [Pro695Leu]+[Pro695Leu] IPNMDB_452 phenoCommon CIPA or HSN IV IPNMDB_452 commonName c.2140G>A IPNMDB_452 alias [Gly714Ser]+[Gly714Ser] IPNMDB_694 phenoCommon CIPA or HSN IV IPNMDB_694 commonName c.[2271C>G]+[2281C>T] IPNMDB_694 alias [Tyr757X]+[Arg761Trp] IPNMDB_696 phenoCommon CIPA or HSN IV IPNMDB_696 commonName c.2281C>T IPNMDB_696 alias [Arg761Trp]+[Arg761Trp] IPNMDB_965 phenoCommon HSN IV IPNMDB_965 commonName c.2308C>T IPNMDB_965 alias [Gln770X]+[Gln770X] IPNMDB_464 phenoCommon CIPA or HSN IV IPNMDB_464 commonName c.2327_2328insT IPNMDB_464 alias Asp776fs IPNMDB_447 phenoCommon CIPA or HSN IV IPNMDB_447 commonName c.2339G>C IPNMDB_447 alias [Arg780Pro]+[Arg780Pro] IPNMDB_931 phenoCommon Autosomal recessive lower motor neuron disease with childhood onset IPNMDB_931 commonName c.1940T>C IPNMDB_931 alias [Phe647Ser]+[Phe647Ser] IPNMDB_614 phenoCommon - (polymorphism) IPNMDB_614 commonName c.-141C>G IPNMDB_619 phenoCommon - (polymorphism) IPNMDB_619 commonName c.-134G>A IPNMDB_620 phenoCommon - (polymorphism) IPNMDB_620 commonName c.-40G>A IPNMDB_914 phenoCommon HNPP IPNMDB_914 commonName c.11delT IPNMDB_914 alias Leu4fs IPNMDB_2 phenoCommon HNPP IPNMDB_2 commonName c.19_20delAG IPNMDB_2 alias Leu7fs IPNMDB_3 phenoCommon DSS IPNMDB_3 commonName c.36C>A IPNMDB_3 alias His12Gln IPNMDB_4 phenoCommon CMT1 IPNMDB_4 commonName c.47T>C IPNMDB_4 alias Leu16Pro IPNMDB_5 phenoCommon DSS IPNMDB_5 commonName c.56T>C IPNMDB_5 alias Leu19Pro IPNMDB_751 phenoCommon CMT1 / HNPP IPNMDB_751 commonName c.65C>T IPNMDB_751 alias Ser22Phe IPNMDB_743 phenoCommon CMT1 + deafness IPNMDB_743 commonName c.68C>G IPNMDB_743 alias Thr23Arg IPNMDB_348 phenoCommon CMT1 IPNMDB_348 commonName c.73_78delGTCAGC IPNMDB_348 alias Val25_Ser26del IPNMDB_6 phenoCommon HNPP IPNMDB_6 commonName c.78+1G>T IPNMDB_6 alias 5'-splice site IPNMDB_374 phenoCommon CMT1 + deafness IPNMDB_374 commonName c.82T>C IPNMDB_374 alias Trp28Arg IPNMDB_34 phenoCommon - (polymorphism) IPNMDB_34 commonName c.87C>T IPNMDB_34 alias Ile29Ile IPNMDB_7 phenoCommon HNPP IPNMDB_7 commonName c.88G>A IPNMDB_7 alias Val30Met IPNMDB_337 phenoCommon CMT1 IPNMDB_337 commonName c.110A>T IPNMDB_337 alias Asp37Val IPNMDB_853 phenoCommon HNPP IPNMDB_853 commonName c.178+1G>C IPNMDB_853 alias 5'-splice site IPNMDB_504 phenoCommon HNPP IPNMDB_504 commonName c.179-1G>C IPNMDB_504 alias 3'-splice site IPNMDB_555 phenoCommon CMT1 IPNMDB_555 commonName c.179-2A>G IPNMDB_555 alias 3'-splice site IPNMDB_8 phenoCommon HNPP IPNMDB_8 commonName c.183G>A IPNMDB_8 alias Trp61X IPNMDB_615 phenoCommon CMT1 + hearing impairment IPNMDB_615 commonName c.193G>T IPNMDB_615 alias Val65Phe IPNMDB_364 phenoCommon HNPP IPNMDB_364 commonName c.199G>A IPNMDB_364 alias Ala67Thr IPNMDB_9 phenoCommon CMT1 + deafness IPNMDB_9 commonName c.199G>C IPNMDB_9 alias Ala67Pro IPNMDB_10 phenoCommon DSS IPNMDB_10 commonName c.206T>A IPNMDB_10 alias Met69Lys IPNMDB_375 phenoCommon CMT1 / DSS (+vestibular loss + hearing loss) IPNMDB_375 commonName c.212T>C IPNMDB_375 alias Leu71Pro IPNMDB_13 phenoCommon DSS IPNMDB_13 commonName c.214T>C IPNMDB_13 alias Ser72Pro IPNMDB_12 phenoCommon DSS IPNMDB_12 commonName c.215C>G IPNMDB_12 alias Ser72Trp IPNMDB_11 phenoCommon CMT1 / DSS (+ deafness) / CH IPNMDB_11 commonName c.215C>T IPNMDB_11 alias Ser72Leu IPNMDB_14 phenoCommon DSS (+ deafness) IPNMDB_14 commonName c.227G>T IPNMDB_14 alias Ser76Ile IPNMDB_16 phenoCommon DSS IPNMDB_16 commonName c.235T>C IPNMDB_16 alias Ser79Pro IPNMDB_15 phenoCommon CMT1 IPNMDB_15 commonName c.236C>G IPNMDB_15 alias Ser79Cys IPNMDB_17 phenoCommon DSS IPNMDB_17 commonName c.238_239delCT IPNMDB_17 alias Leu80fs IPNMDB_18 phenoCommon DSS IPNMDB_18 commonName c.239T>C IPNMDB_18 alias Leu80Pro IPNMDB_19 phenoCommon DSS (with multiple cranial involvement) IPNMDB_19 commonName c.251_253delTCT IPNMDB_19 alias Phe84del IPNMDB_621 phenoCommon CMT1 IPNMDB_621 commonName c.256C>T IPNMDB_621 alias Gln86X IPNMDB_20 phenoCommon CMT1 IPNMDB_20 commonName c.277G>C IPNMDB_20 alias Gly93Arg IPNMDB_22 phenoCommon CMT1 / DSS IPNMDB_22 commonName c.281delG IPNMDB_22 alias Gly94fs IPNMDB_21 phenoCommon HNPP IPNMDB_21 commonName c.281_282insG IPNMDB_21 alias Gly94fs IPNMDB_23 phenoCommon DSS IPNMDB_23 commonName c.298G>A IPNMDB_23 alias Gly100Arg IPNMDB_24 phenoCommon DSS IPNMDB_24 commonName c.299G>A IPNMDB_24 alias Gly100Glu IPNMDB_622 phenoCommon CMT1 IPNMDB_622 commonName c.312delT IPNMDB_622 alias Ile104fs IPNMDB_25 phenoCommon CMT1 IPNMDB_25 commonName c.314T>G IPNMDB_25 alias Leu105Arg IPNMDB_721 phenoCommon CMT1 IPNMDB_721 commonName c.318delT IPNMDB_721 alias Ala106fs IPNMDB_26 phenoCommon CMT1 IPNMDB_26 commonName c.319+1G>A IPNMDB_26 alias 5'-splice site IPNMDB_27 phenoCommon CMT1 IPNMDB_27 commonName c.320G>T IPNMDB_27 alias Gly107Val IPNMDB_336 phenoCommon CH IPNMDB_336 commonName c.325T>C IPNMDB_336 alias Cys109Arg IPNMDB_703 phenoCommon CMT1 IPNMDB_703 commonName c.327C>A IPNMDB_703 alias Cys109X IPNMDB_35 phenoCommon - (polymorphism) IPNMDB_35 commonName c.327C>T IPNMDB_35 alias Cys109Cys IPNMDB_635 phenoCommon CMT1 + deafness IPNMDB_635 commonName c.343_354delGCCATCTACACG IPNMDB_635 alias Ala115_Thr118del IPNMDB_28 phenoCommon CMT1 (hemizygous) / polymorphism (heterozygous) IPNMDB_28 commonName c.353C>T IPNMDB_28 alias Thr118Met IPNMDB_854 phenoCommon CMT2 IPNMDB_854 commonName c.353C>T IPNMDB_854 alias [Thr118Met]+[Thr118Met] IPNMDB_508 phenoCommon HNPP IPNMDB_508 commonName c.364_365delCC IPNMDB_508 alias Pro122fs IPNMDB_419 phenoCommon HNPP IPNMDB_419 commonName c.372G>A IPNMDB_419 alias Trp124X IPNMDB_37 phenoCommon - (polymorphism) IPNMDB_37 commonName c.409A>G IPNMDB_37 alias Ile137Val IPNMDB_778 phenoCommon HNPP IPNMDB_778 commonName c.433_434insC IPNMDB_778 alias Leu145fs IPNMDB_420 phenoCommon HNPP IPNMDB_420 commonName c.434delT IPNMDB_420 alias Leu145fs IPNMDB_29 phenoCommon CMT1 IPNMDB_29 commonName c.440T>G IPNMDB_29 alias Leu147Arg IPNMDB_428 phenoCommon DSS IPNMDB_428 commonName c.447C>A IPNMDB_428 alias Ser149Arg IPNMDB_31 phenoCommon DSS IPNMDB_31 commonName c.448G>T IPNMDB_31 alias Gly150Cys IPNMDB_30 phenoCommon DSS IPNMDB_30 commonName c.449G>A IPNMDB_30 alias Gly150Asp IPNMDB_623 phenoCommon - (polymorphism) IPNMDB_623 commonName c.468G>A IPNMDB_623 alias Leu156Leu IPNMDB_32 phenoCommon DSS IPNMDB_32 commonName c.469C>T IPNMDB_32 alias [Arg157Trp]+[Arg157Trp] IPNMDB_625 phenoCommon - (polymorphism) IPNMDB_625 commonName c.499T>A IPNMDB_937 phenoCommon CMTX5 IPNMDB_937 commonName c.129A>C IPNMDB_937 alias Glu43Asp IPNMDB_936 phenoCommon CMTX5 IPNMDB_936 commonName c.344T>C IPNMDB_936 alias Met115Thr IPNMDB_878 phenoCommon CMT1 IPNMDB_878 commonName c.[176T>C]+[2145T>A] IPNMDB_878 alias [Leu59Pro]+[Cys715X] IPNMDB_571 phenoCommon DSS IPNMDB_571 commonName c.247delC IPNMDB_571 alias [Arg82fs]+[Arg82fs] IPNMDB_529 phenoCommon - (polymorphism) IPNMDB_529 commonName c.306C>T IPNMDB_529 alias Thr102Thr IPNMDB_855 phenoCommon CMT1 IPNMDB_855 commonName c.[385_394dupATCCAGAGTC]+[3208C>T] IPNMDB_855 alias [Leu132fs]+[Arg1070X] IPNMDB_515 phenoCommon CMT4F IPNMDB_515 commonName c.586C>T IPNMDB_515 alias [Arg196X]+[Arg196X] IPNMDB_517 phenoCommon DSS IPNMDB_517 commonName c.[1102C>T]+[2289delT] IPNMDB_517 alias [Arg368X]+[Val763fs] IPNMDB_811 phenoCommon CMT4F IPNMDB_811 commonName c.1194_1197delTTCC IPNMDB_811 alias Ser399fs IPNMDB_522 phenoCommon - (polymorphism) IPNMDB_522 commonName c.1216G>A IPNMDB_522 alias Ala406Thr IPNMDB_524 phenoCommon - (polymorphism) IPNMDB_524 commonName c.1483G>C IPNMDB_524 alias Glu495Gln IPNMDB_530 phenoCommon - (polymorphism) IPNMDB_530 commonName c.1491C>G IPNMDB_530 alias Pro497Pro IPNMDB_570 phenoCommon CMT1 IPNMDB_570 commonName c.2145T>A IPNMDB_570 alias [Cys715X]+[Cys715X] IPNMDB_528 phenoCommon - (polymorphism) IPNMDB_528 commonName c.2645T>G IPNMDB_528 alias Val882Ala IPNMDB_531 phenoCommon - (polymorphism) IPNMDB_531 commonName c.2655T>C IPNMDB_531 alias Pro885Pro IPNMDB_527 phenoCommon - (polymorphism) IPNMDB_527 commonName c.2763A>G IPNMDB_527 alias Ile921Met IPNMDB_518 phenoCommon DSS IPNMDB_518 commonName c.2787delC IPNMDB_518 alias [Ser929fs]+[Ser929fs] IPNMDB_516 phenoCommon DSS IPNMDB_516 commonName c.[2787delC]+[2857C>T] IPNMDB_516 alias [Ser929fs]+[Arg953X] IPNMDB_701 phenoCommon CMT1 IPNMDB_701 commonName c.3208C>T IPNMDB_701 alias [Arg1070X]+[Arg1070X] IPNMDB_526 phenoCommon - (polymorphism) IPNMDB_526 commonName c.3248C>G IPNMDB_526 alias Pro1083Arg IPNMDB_525 phenoCommon - (polymorphism) IPNMDB_525 commonName c.3394G>A IPNMDB_525 alias Gly1132Arg IPNMDB_521 phenoCommon - (polymorphism) IPNMDB_521 commonName c.3775G>A IPNMDB_521 alias Glu1259Lys IPNMDB_523 phenoCommon - (polymorphism) IPNMDB_523 commonName c.4075_4077delGAG IPNMDB_523 alias Glu1359del IPNMDB_636 phenoCommon CMT2B IPNMDB_636 commonName c.385C>T IPNMDB_636 alias Leu129Phe IPNMDB_852 phenoCommon CMT2B IPNMDB_852 commonName c.471G>C IPNMDB_852 alias Lys157Asn IPNMDB_733 phenoCommon CMT2B IPNMDB_733 commonName c.482A>C IPNMDB_733 alias Asn161Thr IPNMDB_637 phenoCommon CMT2B IPNMDB_637 commonName c.484G>A IPNMDB_637 alias Val162Met IPNMDB_698 phenoCommon CMT4B2 and juvenile onset glaucoma IPNMDB_698 commonName c.1459C>T IPNMDB_698 alias [Arg487X]+[Arg487X] IPNMDB_653 phenoCommon CMT4B2 and early onset glaucoma IPNMDB_653 commonName c.2875C>T IPNMDB_653 alias [Gln956X]+[Gln956X] IPNMDB_654 phenoCommon CMT4B2 and early onset glaucoma IPNMDB_654 commonName c.3586C>T IPNMDB_654 alias [Arg1196X]+[Arg1196X] IPNMDB_749 phenoCommon CMT4B2 IPNMDB_749 commonName c.4443+1G>C IPNMDB_749 alias [5'-splice site]+[5'-splice site] IPNMDB_782 phenoCommon HNA IPNMDB_782 commonName c.262C>T IPNMDB_782 alias Arg88Trp IPNMDB_783 phenoCommon HNA + dysmorphic features IPNMDB_783 commonName c.278C>T IPNMDB_783 alias Ser93Phe IPNMDB_96 phenoCommon CMT4 IPNMDB_96 commonName c.26delG IPNMDB_96 alias [Arg9fs]+[Arg9fs] IPNMDB_866 phenoCommon CMT4 IPNMDB_866 commonName c.[217_227delGCTGCTCGGAGinsCCAGTAA]+[2191delG] IPNMDB_866 alias [Ala73fs]+[Glu731fs] IPNMDB_101 phenoCommon CMT4 IPNMDB_101 commonName c.530-2A>G IPNMDB_101 alias [5'-splice site]+[5'-splice site] IPNMDB_867 phenoCommon CMT4 IPNMDB_867 commonName c.[920G>A]+[3326G>C] IPNMDB_867 alias [Trp307X]+[Arg1109Pro] IPNMDB_868 phenoCommon CMT4 IPNMDB_868 commonName c.1171-1G>A IPNMDB_868 alias [3'-splice site]+[3'-splice site] IPNMDB_278 phenoCommon CMT4 IPNMDB_278 commonName c.1586G>A IPNMDB_278 alias [Arg529Gln]+[Arg529Gln] IPNMDB_280 phenoCommon CMT4 IPNMDB_280 commonName c.1747_1748delAG IPNMDB_280 alias [Arg583fs]+[Arg583fs] IPNMDB_285 phenoCommon CMT4 IPNMDB_285 commonName c.1969G>A IPNMDB_285 alias [Glu657Lys]+[Glu657Lys] IPNMDB_869 phenoCommon CMT4 IPNMDB_869 commonName c.1972C>T IPNMDB_869 alias [Arg658Cys]+[Arg658Cys] IPNMDB_355 phenoCommon CMT4 IPNMDB_355 commonName c.[1972C>T]+[2860C>T] IPNMDB_355 alias [Arg658Cys]+[Arg954X] IPNMDB_872 phenoCommon CMT4 IPNMDB_872 commonName c.[1982T>C]+[2680C>T] IPNMDB_872 alias [Leu662Pro]+[Arg954X] IPNMDB_356 phenoCommon CMT4 IPNMDB_356 commonName c.2491_2492delAG IPNMDB_356 alias [Ser831fs]+[Ser831fs] IPNMDB_871 phenoCommon CMT4 IPNMDB_871 commonName c.[2642A>T]+[2860C>T] IPNMDB_871 alias [Asn881Ser]+[Arg954X] IPNMDB_870 phenoCommon CMT4 IPNMDB_870 commonName c.2710C>T IPNMDB_870 alias [Arg904X]+[Arg904X] IPNMDB_357 phenoCommon CMT4 IPNMDB_357 commonName c.[2829T>G]+[2860C>T] IPNMDB_357 alias [Tyr943X]+[Arg954X] IPNMDB_865 phenoCommon CMT4 IPNMDB_865 commonName c.2860C>T IPNMDB_865 alias [Arg954X]+[Arg954X] IPNMDB_358 phenoCommon CMT4 IPNMDB_358 commonName c.[2860C>T]+[3601C>T] IPNMDB_358 alias [Arg954X]+[Gln1201X] IPNMDB_830 phenoCommon CMT4 IPNMDB_830 commonName c.3325C>T IPNMDB_830 alias [Arg1109X]+[Arg1109X] IPNMDB_359 phenoCommon CMT4 IPNMDB_359 commonName c.3341delC IPNMDB_359 alias [Pro1114fs]+[Pro1114fs] IPNMDB_647 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_647 commonName c.2023C>T IPNMDB_647 alias [Arg675X]+[Arg675X] IPNMDB_644 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_644 commonName c.2436delG IPNMDB_644 alias [Thr813fs]+[Thr813fs] IPNMDB_645 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_645 commonName c.[2436delG]+[1584_1585delCTinsG] IPNMDB_645 alias [Thr813fs]+[Phe529fs] IPNMDB_921 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_921 commonName c.2995_3004delCAGATGCTCC IPNMDB_921 alias [Gln999fs]+[Gln999fs] IPNMDB_646 phenoCommon Peripheral neuropathy with agenesis of the corpus callosum or Andermann syndrome IPNMDB_646 commonName c.3031C>T IPNMDB_646 alias [Arg1011X]+[Arg1011X] IPNMDB_659 phenoCommon CH + Waardenburg-Hirschsprung IPNMDB_659 commonName c.748C>T IPNMDB_659 alias Gln250X IPNMDB_534 phenoCommon Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness IPNMDB_534 commonName c.795delG IPNMDB_534 alias Glu265fs IPNMDB_519 phenoCommon CMT1 (+ Pelizaeus-Merzbacher disease & Waardenburg-Hirschsprung) IPNMDB_519 commonName c.1400_1411delAAAGGGGGCCCT IPNMDB_519 alias X467del IPNMDB_942 phenoCommon HSN I IPNMDB_942 commonName c.397T>C IPNMDB_942 alias Cys133Arg IPNMDB_509 phenoCommon HSN I IPNMDB_509 commonName c.398G>A IPNMDB_509 alias Cys133Tyr IPNMDB_510 phenoCommon HSN I IPNMDB_510 commonName c.399T>G IPNMDB_510 alias Cys133Trp IPNMDB_511 phenoCommon HSN I IPNMDB_511 commonName c.431T>A IPNMDB_511 alias Val144Asp IPNMDB_838 phenoCommon - (polymorphism) IPNMDB_838 commonName c.452G>T IPNMDB_838 alias Arg151Leu IPNMDB_940 phenoCommon HSN I IPNMDB_940 commonName c.992C>T IPNMDB_940 alias Ser331Phe IPNMDB_675 phenoCommon - (polymorphism) IPNMDB_675 commonName c.1160G>C IPNMDB_675 alias Gly387Ala IPNMDB_944 phenoCommon HSN I IPNMDB_944 commonName c.1075G>A IPNMDB_944 alias Val352Met IPNMDB_943 phenoCommon HSN I IPNMDB_943 commonName c.1145G>T IPNMDB_943 alias Gly382Val IPNMDB_945 phenoCommon HSN I IPNMDB_945 commonName c.1510A>T IPNMDB_945 alias Ile504Phe IPNMDB_801 phenoCommon CMT1/2 IPNMDB_801 commonName c.121G>A IPNMDB_801 alias Gly41Arg IPNMDB_803 phenoCommon CMT1/2 IPNMDB_803 commonName c.458_469delTAAAGCAGGTGG IPNMDB_803 alias Val153_Val156del IPNMDB_802 phenoCommon CMT1/2 IPNMDB_802 commonName c.586G>A IPNMDB_802 alias Glu196Lys RPGR_00105 commonName c.28+1G>A RPGR_00153 commonName c.28+5G>A RPGR_00268 commonName c.29-15A>G RPGR_00088 commonName c.1088_1089insT RPGR_00089 commonName c.1092_1093insT RPGR_00090 commonName c.1100delC RPGR_00289 commonName c.1117A>T RPGR_00026 commonName c.1120G>T RPGR_00290 commonName c.1135G>T RPGR_00210 commonName c.1164G>A RPGR_00211 commonName c.1164G>T RPGR_00291 commonName c.1175delC RPGR_00340 commonName c.1179T>G RPGR_00091 commonName c.1216_1217delCT RPGR_00027 commonName c.1234C>T RPGR_00092 commonName c.1238_1239insAG RPGR_00093 commonName c.1242_1243delGA RPGR_00259 commonName c.1245+2T>C RPGR_00219 commonName c.1245+3A>G RPGR_00272 commonName c.1246-13delC RPGR_00319 commonName c.1246-2A>C RPGR_00094 commonName c.1261_1279del19 RPGR_00212 commonName c.1274G>A RPGR_00213 commonName c.1291A>G RPGR_00214 commonName c.1295A>G RPGR_00028 commonName c.1307G>A RPGR_00029 commonName c.1345C>T RPGR_00215 commonName c.1367A>G RPGR_00095 commonName c.1372_1373delAG RPGR_00096 commonName c.1376_1377delTC RPGR_00338 commonName c.1399C>T RPGR_00097 commonName c.1402_1405delCCAG RPGR_00320 commonName c.1414+2T>A RPGR_00098 commonName c.1477delC RPGR_00277 commonName c.1507-130T>C RPGR_00275 commonName c.1507-101T>A RPGR_00276 commonName c.1507-101T>AA RPGR_00274 commonName c.1507-101_104del4 RPGR_00281 commonName c.1507-97T>C RPGR_00278 commonName c.1507-68T>C RPGR_00099 commonName c.1512_1513delCA RPGR_00321 commonName c.1572+1G>A RPGR_00326 commonName c.1572+11A>G RPGR_00220 commonName c.1573-8A>G RPGR_00337 commonName c.1573-3C>G RPGR_00221 commonName c.1573-2A>G RPGR_00222 commonName c.1573-1G>A RPGR_00216 commonName c.1576-1578delCAA RPGR_00100 commonName c.1582_1585del4 RPGR_00217 commonName c.1598C>T RPGR_00342 commonName c.1628_1629insAACGATGA RPGR_00101 commonName c.1685_1686delAT RPGR_00218 commonName c.1687G>A RPGR_00260 commonName c.1697G>A RPGR_00030 commonName c.1747G>T RPGR_00283 commonName c.2092-137T>A RPGR_00323 commonName c.2149+46C>T RPGR_00324 commonName c.2241+11T>C RPGR_00067 commonName c.33delG RPGR_00068 commonName c.101delA RPGR_00261 commonName c.122C>G RPGR_00001 commonName c.127G>A RPGR_00002 commonName c.128G>A RPGR_00203 commonName c.141T>G RPGR_00204 commonName c.153C>T RPGR_00003 commonName c.154G>T RPGR_00247 commonName c.155-2A>G RPGR_00224 commonName c.155-1G>A RPGR_00004 commonName c.179G>T RPGR_00263 commonName c.194delG RPGR_00262 commonName c.194G>T RPGR_00205 commonName c.223A>G RPGR_00206 commonName c.227G>T RPGR_00070 commonName c.237_238delAT RPGR_00207 commonName c.248-6T>A RPGR_00071 commonName c.274_277dup4 RPGR_00005 commonName c.294C>A RPGR_00006 commonName c.296C>A RPGR_00208 commonName c.310+1G>A RPGR_00209 commonName c.310+1G>C RPGR_00251 commonName c.310+3A>G RPGR_00265 commonName c.323_328del6 RPGR_00266 commonName c.350G>A RPGR_00073 commonName c.356delT RPGR_00103 commonName c.371delC RPGR_00007 commonName c.379A>G RPGR_00008 commonName c.390T>G RPGR_00270 commonName c.408delT RPGR_00009 commonName c.415G>T RPGR_00010 commonName c.455C>T RPGR_00252 commonName c.469+1G>T RPGR_00282 commonName c.482delT RPGR_00074 commonName c.482_483delTT RPGR_00104 commonName c.485_486delTT RPGR_00075 commonName c.486delT RPGR_00011 commonName c.492G>A RPGR_00322 commonName c.494G>T RPGR_00012 commonName c.517G>C RPGR_00013 commonName c.581G>A RPGR_00284 commonName c.583A>G RPGR_00348 commonName c.593G>A RPGR_00014 commonName c.605C>A RPGR_00253 commonName c.619+5G>A RPGR_00254 commonName c.619+9del RPGR_00271 commonName c.619+16A>G RPGR_00269 commonName c.620-41T>C RPGR_00077 commonName c.629_639del11 RPGR_00015 commonName c.644G>T RPGR_00078 commonName c.697_724del28 RPGR_00016 commonName c.703C>T RPGR_00031 commonName c.706C>T RPGR_00032 commonName c.730A>T RPGR_00248 commonName c.732G>A RPGR_00080 commonName c.747delC RPGR_00017 commonName c.748T>C RPGR_00018 commonName c.749G>A RPGR_00079 commonName c.749_750delGT RPGR_00285 commonName c.752_753delTG RPGR_00341 commonName c.764C>T RPGR_00081 commonName c.771_773delTCT RPGR_00255 commonName c.778-1G>A RPGR_00318 commonName c.778+1G>C RPGR_00256 commonName c.778+5G>A RPGR_00349 commonName c.779-5T>G RPGR_00249 commonName c.785C>G RPGR_00082 commonName c.786_787delTG RPGR_00019 commonName c.799G>A RPGR_00286 commonName c.800G>A RPGR_00350 commonName c.812_813delTT RPGR_00287 commonName c.814G>A RPGR_00288 commonName c.817C>T RPGR_00020 commonName c.823G>A RPGR_00083 commonName c.837delT RPGR_00084 commonName c.838_842del5 RPGR_00021 commonName c.865A>G RPGR_00085 commonName c.869delA RPGR_00086 commonName c.886_900del15 RPGR_00087 commonName c.891_892delAA RPGR_00022 commonName c.904T>C RPGR_00023 commonName c.905G>A RPGR_00024 commonName c.934G>A RPGR_00025 commonName c.934G>T RPGR_00257 commonName c.934+1G>A RPGR_00258 commonName c.934+1G>C RPGR_00033 commonName c.958G>A RPGR_00034 commonName c.980G>T RPGR_00035 commonName c.994G>T RPGR_00250 commonName c.1033A>G RPGR_00339 commonName c.1059+2T>C RPGR_00336 commonName c.1059+363G>A RPGR_00036 commonName c.1765G>T RPGR_00102 commonName c.1835_1836insA RPGR_00106 commonName c.1869_1870delAG RPGR_00107 commonName c.1872_1873delGA RPGR_00108 commonName c.1926_1927insA RPGR_00037 commonName c.1928C>G RPGR_00351 commonName c.1933_1934insC RPGR_00109 commonName c.1938_1939insAGAGG RPGR_00110 commonName c.1952_1953insT RPGR_00111 commonName c.2002delC RPGR_00038 commonName c.2007G>A RPGR_00112 commonName c.2049_2128dup80 RPGR_00039 commonName c.2080A>T RPGR_00113 commonName c.2105_2213dup109 RPGR_00114 commonName c.2109_2110insGAAG RPGR_00040 commonName c.2122G>T RPGR_00115 commonName c.2144_2216dup73 RPGR_00041 commonName c.2146G>T RPGR_00345 commonName c.2148_2149ins356 RPGR_00325 commonName c.2153delG RPGR_00116 commonName c.2155_2156insC RPGR_00117 commonName c.2167delA RPGR_00343 commonName c.2171delA RPGR_00042 commonName c.2173C>T RPGR_00043 commonName c.2176G>T RPGR_00118 commonName c.2185delG RPGR_00119 commonName c.2187delG RPGR_00292 commonName c.2189delG RPGR_00044 commonName c.2218G>T RPGR_00330 commonName c.2223G>A RPGR_00120 commonName c.2233_2234delAG RPGR_00121 commonName c.2234_2235delGA RPGR_00122 commonName c.2234_2237delGAGA RPGR_00123 commonName c.2235_2236delAG RPGR_00352 commonName c.2235_2238delAGAA RPGR_00124 commonName c.2236_2237delGA RPGR_00293 commonName c.2241_2242delGG RPGR_00045 commonName c.2245G>T RPGR_00125 commonName c.2252_2255delAGGA RPGR_00126 commonName c.2256_2259delGGGA RPGR_00127 commonName c.2257_2260delGGAG RPGR_00046 commonName c.2260G>T RPGR_00353 commonName c.2268delA RPGR_00128 commonName c.2270_2271delAG RPGR_00047 commonName c.2293G>T RPGR_00294 commonName c.2305G>A RPGR_00295 commonName c.2311delG RPGR_00296 commonName c.2319_2320delAG RPGR_00354 commonName c.2321_2330delAGAGGAAAAA RPGR_00129 commonName c.2323_2324delAG RPGR_00130 commonName c.2340delA RPGR_00131 commonName c.2340_2341delAG RPGR_00329 commonName c.2341G>A RPGR_00132 commonName c.2357_2358delAA RPGR_00133 commonName c.2384delA RPGR_00134 commonName c.2398delG RPGR_00135 commonName c.2400_2401delAA RPGR_00223 commonName c.2401A>G RPGR_00136 commonName c.2403_2404delAG RPGR_00137 commonName c.2403_2406delAGAG RPGR_00138 commonName c.2404_2405delGA RPGR_00139 commonName c.2405_2406delAG RPGR_00140 commonName c.2412_2413delAG RPGR_00141 commonName c.2423_2424delAA RPGR_00142 commonName c.2425_2426delGA RPGR_00143 commonName c.2426_2427delAG RPGR_00048 commonName c.2437G>T RPGR_00144 commonName c.2442_2445delAGAG RPGR_00355 commonName c.2443G>A RPGR_00238 commonName c.2447_2461del15 RPGR_00297 commonName c.2464_2468delGGGAA RPGR_00298 commonName c.2467A>T RPGR_00299 commonName c.2472_2485del14 RPGR_00300 commonName c.2473_2474delGA RPGR_00301 commonName c.2473_2486del14 RPGR_00145 commonName c.2476_2477delAG RPGR_00146 commonName c.2480_2520dup41 RPGR_00049 commonName c.2491G>T RPGR_00147 commonName c.2493_2494delGG RPGR_00302 commonName c.2494G>T RPGR_00148 commonName c.2495_2516del22 RPGR_00149 commonName c.2499delT RPGR_00356 commonName c.2499_2500dupTG RPGR_00150 commonName c.2501delA RPGR_00151 commonName c.2505_2506delGG RPGR_00152 commonName c.2506delG RPGR_00303 commonName c.2506dupG RPGR_00154 commonName c.2516_2520delAAGGG RPGR_00155 commonName c.2517_2518delAG RPGR_00156 commonName c.2522delA RPGR_00157 commonName c.2529delA RPGR_00050 commonName c.2536G>T RPGR_00226 commonName c.2541_2561del21 RPGR_00158 commonName c.2543delA RPGR_00344 commonName c.2548delG RPGR_00346 commonName c.2548_2667del120insAGGGAGAA RPGR_00159 commonName c.2554_2555insG RPGR_00051 commonName c.2557G>T RPGR_00160 commonName c.2571_2572delAG RPGR_00161 commonName c.2586_2587delGG RPGR_00052 commonName c.2590G>T RPGR_00162 commonName c.2601_2602delGG RPGR_00227 commonName c.2606_2620del15 RPGR_00304 commonName c.2608_2611delGAAG RPGR_00163 commonName c.2613_2614delGG RPGR_00228 commonName c.2615_2616ins21 RPGR_00165 commonName c.2625_2626insA RPGR_00166 commonName c.2628_2629delGG RPGR_00053 commonName c.2629G>T RPGR_00305 commonName c.2635dupG RPGR_00054 commonName c.2650G>T RPGR_00167 commonName c.2655_2656delGG RPGR_00168 commonName c.2659_2662delGGAG RPGR_00231 commonName c.2665G>T RPGR_00229 commonName c.2665_2667delGAG RPGR_00230 commonName c.2667_2669delGGA RPGR_00264 commonName c.2670_2744dup75 RPGR_00169 commonName c.2679_2680delGG RPGR_00055 commonName c.2683G>T RPGR_00056 commonName c.2707G>T RPGR_00170 commonName c.2714_2715delAA RPGR_00171 commonName c.2715_2716insCCTC RPGR_00057 commonName c.2716G>T RPGR_00232 commonName c.2717_2719delAGG RPGR_00172 commonName c.2730_2731delGG RPGR_00173 commonName c.2760_2761delAG RPGR_00174 commonName c.2763_2764delGG RPGR_00058 commonName c.2782G>T RPGR_00175 commonName c.2790_2791delGG RPGR_00306 commonName c.2792delA RPGR_00059 commonName c.2800G>T RPGR_00234 commonName c.2804_2824dup21 RPGR_00060 commonName c.2812G>T RPGR_00233 commonName c.2820_2840dup21 RPGR_00176 commonName c.2836_2840delGGGGA RPGR_00307 commonName c.2838_2839delGG RPGR_00308 commonName c.2840delA RPGR_00309 commonName c.2840_2844del5 RPGR_00177 commonName c.2845delG RPGR_00061 commonName c.2848G>T RPGR_00178 commonName c.2851_2854delGAGG RPGR_00179 commonName c.2862dupA RPGR_00180 commonName c.2866delG RPGR_00311 commonName c.2867delA RPGR_00062 commonName c.2872G>T RPGR_00235 commonName c.2884G>A RPGR_00181 commonName c.2892_2893delGG RPGR_00310 commonName c.2893delG RPGR_00182 commonName c.2894delA RPGR_00183 commonName c.2899delG RPGR_00236 commonName c.2903_2923dup21 RPGR_00312 commonName c.2908_2931dup24 RPGR_00184 commonName c.2916_2917delGG RPGR_00063 commonName c.2917G>T RPGR_00237 commonName c.2918_2938dup21 RPGR_00335 commonName c.2919delA RPGR_00328 commonName c.2924_2943dup20 RPGR_00064 commonName c.2929G>T RPGR_00185 commonName c.2935_2936delGG RPGR_00186 commonName c.2944delG RPGR_00187 commonName c.2952_2978del27insT RPGR_00314 commonName c.2964_2965delGG RPGR_00267 commonName c.2973_2987del15 RPGR_00188 commonName c.2984_2985delGG RPGR_00334 commonName c.2985_2986delGG RPGR_00189 commonName c.2992_2996delGAAGG RPGR_00190 commonName c.2995_2996delGG RPGR_00191 commonName c.2997_2998delGG RPGR_00192 commonName c.3007_3008delGG RPGR_00193 commonName c.3007_3010delGGAG RPGR_00194 commonName c.3011_3012delAG RPGR_00333 commonName c.3027_3028delGG RPGR_00195 commonName c.3050_3051delAG RPGR_00239 commonName c.3051_3062del12 RPGR_00196 commonName c.3058delG RPGR_00240 commonName c.3060_3071del12 RPGR_00241 commonName c.3061_3072del12 RPGR_00242 commonName c.3074_3085del12 RPGR_00197 commonName c.3090_3091delAG RPGR_00198 commonName c.3092delA RPGR_00199 commonName c.3092_3093delAG RPGR_00200 commonName c.3096_3097delGG RPGR_00201 commonName c.3097delG RPGR_00315 commonName c.3175_3176delAG RPGR_00065 commonName c.3211G>T RPGR_00243 commonName c.3219C>T RPGR_00244 commonName c.3231T>A RPGR_00066 commonName c.3232G>T RPGR_00202 commonName c.3316_3319delAAGT RPGR_00313 commonName c.3317_3318insA RPGR_00317 commonName c.3394_3395delAA RPGR_00358 commonName c.3395delA RPGR_00245 commonName c.3396T>C RPGR_00332 commonName c.3428A>G RPGR_00246 commonName c.3430A>G X-ALD_c.-59C>T commonName c.-59C>T X-ALD_c.-17_8del26 commonName c.-17_8del26 X-ALD_c.-17_8del26 phenoCommon ALDP in fibroblasts is absent X-ALD_c.-24_57del81insA commonName c.-24_57del81insA X-ALD_c.1A>G commonName c.1A>G X-ALD_c.1A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.2T>A commonName c.2T>A X-ALD_c.2T>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.3G>A commonName c.3G>A X-ALD_c.3G>C commonName c.3G>C X-ALD_c.30G>A commonName 7, 58 X-ALD_c.30G>A alias c.30G>A X-ALD_c.30G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.38A>C commonName c.38A>C X-ALD_c.[46A>T;706C>T] commonName c.[46A>T;706C>T] X-ALD_c.53_54insGCAC commonName c.53_54insGCAC X-ALD_c.53_54insGCAC phenoCommon ALDP in fibroblasts is absent X-ALD_c.55G>T commonName c.55G>T X-ALD_c.56delC commonName c.56delC X-ALD_c.56delC phenoCommon ALDP in fibroblasts is absent X-ALD_c.67_83del commonName c.67_83del17 X-ALD_c.97_100del commonName c.97_100del4 X-ALD_c.102C>AT commonName c.102C>AT X-ALD_c.109C>G commonName c.109C>G X-ALD_c.110_117del commonName 33, 72 X-ALD_c.110_117del alias c.110_17del8 X-ALD_c.112C>T commonName c.112C>T X-ALD_c.115_31delins3 commonName c.115_31delins3 X-ALD_c.115_31delins3 phenoCommon ALDP in fibroblasts is absent X-ALD_c.119_147del commonName c.119_147del29 X-ALD_c.125delC commonName c.125delC X-ALD_c.125_26insC commonName c.125_26insC X-ALD_c.138_39insT commonName c.138_39insT X-ALD_c.139C>T commonName 33, 58 X-ALD_c.139C>T alias c.139C>T X-ALD_c.145_146ins4 commonName c.145_146ins4 X-ALD_c.145_146ins4 phenoCommon ALDP in fibroblasts is absent X-ALD_c.154G>T commonName c.154G>T X-ALD_c.155_56insG commonName c.155_56insG X-ALD_c.220C>T commonName 32, 97 X-ALD_c.220C>T alias c.220C>T X-ALD_c.220C>T phenoCommon ALDP in fibroblasts is 7.5 ± 0.6% X-ALD_c.225_242del commonName c.225_242del18 X-ALD_c.225_242del phenoCommon ALDP in fibroblasts is absent X-ALD_c.232_240del commonName c.232_40del9 X-ALD_c.234_242del commonName c.234_42del9 X-ALD_c.240_41ins6 commonName c.240_41ins6 X-ALD_c.240_41ins9 commonName c.240_41ins9 X-ALD_c.243_44ins9 commonName 28, 33 X-ALD_c.243_44ins9 alias c.243_44ins9 X-ALD_c.248delT commonName c.248delT X-ALD_c.250C>T commonName c.250C>T X-ALD_c.251C>T commonName c.251C>T X-ALD_c.253_54insC commonName 49, 60, 62 X-ALD_c.253_54insC alias c.253_54insC X-ALD_c.258C>T commonName c.258C>T X-ALD_c.264C>G commonName c.264C>G X-ALD_c.264C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.268G>A commonName c.268G>A X-ALD_c.268G>T commonName c.268G>T X-ALD_c.270_271delGA commonName c.270-271delGA X-ALD_c.274_311del commonName c.274_311del38 X-ALD_c.277delC commonName c.277delC X-ALD_c.287_88insCC commonName c.287_88insCC X-ALD_c.290A>C commonName c.290A>C X-ALD_c.292T>C commonName c.292T>C X-ALD_c.292T>C phenoCommon ALDP in fibroblasts is decreased X-ALD_c.293C>T commonName 7, 33, 49, 48, 58 X-ALD_c.293C>T alias c.293C>T X-ALD_c.293C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.293C>G commonName c.293C>G X-ALD_c.294_95insC commonName c.294_95insC X-ALD_c.296C>A commonName c.296C>A X-ALD_c.298delG commonName c.298delG X-ALD_c.301T>A commonName c.301T>A X-ALD_c.305T>A commonName c.305T>A X-ALD_c.309C>G commonName 29, 53 X-ALD_c.309C>G alias c.309C>G X-ALD_c.309C>G phenoCommon ALDP in fibroblasts is reduced X-ALD_c.310C>T commonName 13, 16, 33, 42, , 97 X-ALD_c.310C>T alias c.310C>T X-ALD_c.310C>T phenoCommon ALDP in fibroblasts is 35± 3% X-ALD_c.311G>A commonName 4, 32, 33, 49, 47 X-ALD_c.311G>A alias c.311G>A X-ALD_c.311G>T commonName c.311G>T X-ALD_c.313A>C commonName 33, 38 X-ALD_c.313A>C alias c.313A>C X-ALD_c.314C>T commonName c.314C>T X-ALD_c.314C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.319delC commonName c.319delC X-ALD_c.320T>C commonName c.320T>C X-ALD_c.322T>G commonName c.322T>G X-ALD_c.322T>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.323C>A commonName 33, 56 X-ALD_c.323C>A alias c.323C>A X-ALD_c.323C>T commonName 33, 34, 53, 62, 90 X-ALD_c.323C>T alias c.323C>T X-ALD_c.323C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.323C>G commonName 7, 53 X-ALD_c.323C>G alias c.323C>G X-ALD_c.323C>G phenoCommon ALDP in fibroblasts is reduced X-ALD_c.337delC commonName 49, 62, 97 X-ALD_c.337delC alias c.337delC X-ALD_c.337delC phenoCommon ALDP in fibroblasts is 0% X-ALD_c.337C>T commonName c.337C>T X-ALD_c.337C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.338G>C commonName c.338G>C X-ALD_c.341T>C commonName c.341T>C X-ALD_c.341T>C phenoCommon ALDP in fibroblasts is reduced X-ALD_c.346G>A commonName 7, 29, 32, 33, 58 X-ALD_c.346G>A alias c.346G>A X-ALD_c.346G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.347G>A commonName 57, 87, 88 X-ALD_c.347G>A alias c.347G>A X-ALD_c.352_353delCT commonName c.352delCT X-ALD_c.356C>A commonName c.356C>A X-ALD_c.359G>C commonName c.359G>C X-ALD_c.359G>C phenoCommon ALDP in fibroblasts is present X-ALD_c.368T>C commonName c.368C>T X-ALD_c.371G>C commonName c.371G>C X-ALD_c.385_86insT commonName c.385_86insT X-ALD_c.387delT commonName c.387delT X-ALD_c.395G>A commonName 71, 94 X-ALD_c.395G>A alias c.395G>A X-ALD_c.396G>A commonName 33, 52, 59 X-ALD_c.396G>A alias c.396G>A X-ALD_c.397C>T commonName 16, 49 X-ALD_c.397C>T alias c.397C>T X-ALD_c.397C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.401T>G commonName c.401T>G X-ALD_c.401_405delinsAGCATT commonName c.401_05delinsAGCATT X-ALD_c.410G>A commonName c.410G>A X-ALD_c.411G>A commonName 16, 49, 62 X-ALD_c.411G>A alias c.411G>A X-ALD_c.411G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.412_423del commonName c.412_23del12 X-ALD_c.412_414delCTC commonName 52, 96 X-ALD_c.412_414delCTC alias c.412_14delCTC X-ALD_c.420C>A commonName c.420C>A X-ALD_c.421G>A commonName 13, 33, 64, 88, 93 X-ALD_c.421G>A alias c.421G>A X-ALD_c.422C>T commonName c.422C>T X-ALD_c.427C>T commonName 49, 34, 38, 88 X-ALD_c.427C>T alias c.427C>T X-ALD_c.428C>A commonName c.428C>A X-ALD_c.428C>A phenoCommon ALDP in fibroblasts is present X-ALD_c.428C>T commonName c.428C>T X-ALD_c.432_446delinsCCC commonName c.432_446delinsCCC X-ALD_c.432_446delinsCCC phenoCommon ALDP in fibroblasts is absent X-ALD_c.440T>G commonName c.440T>G X-ALD_c.440T>G phenoCommon ALDP in fibroblasts is present X-ALD_c.442A>G commonName c.442A>G X-ALD_c.442A>T commonName c.442A>T X-ALD_c.442A>T phenoCommon ALDP in fibroblasts is present X-ALD_c.443A>G commonName 7, 8, 24, 33, 38, 60 X-ALD_c.443A>G alias c.443A>G X-ALD_c.443A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.446G>A commonName 16, 32, 49, 97 X-ALD_c.446G>A alias c.446G>A X-ALD_c.446G>A phenoCommon ALDP in fibroblasts is 77 ± 3% X-ALD_c.454C>A commonName 29, 49, 90 X-ALD_c.454C>A alias c.454C>A X-ALD_c.454C>T commonName 7, 13, 33, 49, 52, 63, 88 X-ALD_c.454C>T alias c.454C>T X-ALD_c.454C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.455G>C commonName c.455G>C X-ALD_c.455G>T commonName 33, 49, 52, 58 X-ALD_c.455G>T alias c.455G>T X-ALD_c.455G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.461T>C commonName 33, 88 X-ALD_c.461T>C alias c.461T>C X-ALD_c.462_481del commonName c.462_81del20 X-ALD_c.469C>T commonName c.469C>T X-ALD_c.469C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.473T>C commonName c.473T>C X-ALD_c.476_499del commonName c.476_99del24 X-ALD_c.479T>C commonName c.479T>C X-ALD_c.481T>C commonName c.481T>C X-ALD_c.482C>A commonName 29, 88 X-ALD_c.482C>A alias c.482C>A X-ALD_c.488G>A commonName c.488G>A X-ALD_c.488G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.488G>T commonName c.488G>T X-ALD_c.488G>C commonName 49, 41, 33, 57 X-ALD_c.488G>C alias c.488G>C X-ALD_c.494delG commonName c.494delG X-ALD_c.496_497insG commonName c.496_497insG X-ALD_c.510delC commonName c.510delC X-ALD_c.512A>C commonName c.512A>C X-ALD_c.514delC commonName c.514delC X-ALD_c.515_16insC commonName c.515_16insC X-ALD_c.518T>C commonName c.518T>C X-ALD_c.520T>C commonName c.520T>C X-ALD_c.520T>G commonName 8, 15 X-ALD_c.520T>G alias c.520T>G X-ALD_c.521A>G commonName 29, 33, 47, 49, 60, 62, 88, 93 X-ALD_c.521A>G alias c.521A>G X-ALD_c.521A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.521A>C commonName 1, 33, 60, 88 X-ALD_c.521A>C alias c.521A>C X-ALD_c.521A>C phenoCommon ALDP in fibroblasts is present X-ALD_c.522_524delCTT commonName c.522_24delCTT X-ALD_c.522_524delCTT phenoCommon ALDP in fibroblasts is reduced X-ALD_c.529C>T commonName 29, 32, 33, 49, 60, 62, 86, 88 X-ALD_c.529C>T alias c.529C>T X-ALD_c.529C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.540_41insT commonName c.540_41insT X-ALD_c.540_41insT phenoCommon ALDP in fibroblasts is absent X-ALD_c.541_542delTA commonName c.541_42delTA X-ALD_c.541_542delTA phenoCommon ALDP in fibroblasts is absent X-ALD_c.542A>G commonName 7, 33, 49, 52, 63, 88 X-ALD_c.542A>G alias c.542A>G X-ALD_c.543C>A commonName c.543C>A X-ALD_c.543C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.544_45insCTACTACC commonName c.544_45insCTACTACC X-ALD_c.545G>C commonName 13, 59 X-ALD_c.545G>C alias c.545G>C X-ALD_c.548T>G commonName c.548T>G X-ALD_c.565C>T commonName 29, 33, 60 X-ALD_c.565C>T alias c.565C>T X-ALD_c.566G>A commonName c.566G>A X-ALD_c.569T>C commonName c.569T>C X-ALD_c.580G>A commonName c.580G>A X-ALD_c.580G>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.580G>C commonName 16, 58, 97 X-ALD_c.580G>C alias c.580G>C X-ALD_c.580G>C phenoCommon ALDP in fibroblasts is 60 ± 14% X-ALD_c.581_589del commonName c.581_89del X-ALD_c.583C>T commonName c.583C>T X-ALD_c.588_589delTC commonName c.588_89delTC X-ALD_c.591_92insT commonName c.591_92insT X-ALD_c.593C>A commonName c.593C>A X-ALD_c.593C>G commonName c.593C>G X-ALD_c.593C>T commonName c.593C>T X-ALD_c.595G>A commonName c.595G>A X-ALD_c.598G>A commonName c.598G>A X-ALD_c.599A>T commonName c.599A>T X-ALD_c.614C>A commonName c.614C>A X-ALD_c.619_627del commonName c.619_627del X-ALD_c.619_627del phenoCommon ALDP in fibroblasts is absent X-ALD_c.622_23insCGGCCTCTG commonName c.622_23insCGGCCTCTG X-ALD_c.618_630del commonName c.618_30del13 X-ALD_c.621_900+384del664 commonName c.621_900+384del664 X-ALD_c.621_900+384del664 phenoCommon ALDP in fibroblasts is absent X-ALD_c.622_623insG commonName c.622_623insG X-ALD_c.632T>C commonName c.632T>C X-ALD_c.636C>G commonName 4, 38 X-ALD_c.636C>G alias c.636C>G X-ALD_c.638C>G commonName c.638C>G X-ALD_c.640A>G commonName c.640A>G X-ALD_c.643delC commonName c.643delC X-ALD_c.649A>G commonName 49, 48 X-ALD_c.649A>G alias c.649A>G X-ALD_c.649A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.652C>A commonName 29, 49 X-ALD_c.652C>A alias c.652C>A X-ALD_c.652C>A phenoCommon ALDP in fibroblasts is present X-ALD_c.659T>C commonName 16, 97 X-ALD_c.659T>C alias c.659T>C X-ALD_c.659T>C phenoCommon ALDP in fibroblasts is 22 ± 5.4% X-ALD_c.662A>G commonName 7, 33 X-ALD_c.662A>G alias c.662A>G X-ALD_c.662A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.668C>A commonName c.668C>A X-ALD_c.671T>G commonName c.671T>G X-ALD_c.677delC commonName c.677delC X-ALD_c.684_85insTACAC commonName c.684_85insTACAC X-ALD_c.686T>C commonName 29, 33, 47, 49 X-ALD_c.686T>C alias c.686T>C X-ALD_c.686T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.692_694delGGGinsC commonName c.692_94delGGGinsC X-ALD_c.693_694delGG commonName 7, 13 X-ALD_c.693_694delGG alias c.693_94delGG X-ALD_c.693_694delGG phenoCommon ALDP in fibroblasts is absent X-ALD_c.696G>T commonName c.696G>T X-ALD_c.695_96insG commonName c.695_96insG X-ALD_c.697_900+25del229 commonName c.697_900+25del229 X-ALD_c.706_709delCGTG commonName c.706_09delCGTG X-ALD_c.[707G>A;1534G>A] commonName c.[707G>A;1534G>A] X-ALD_c.[707G>A;1534G>A] phenoCommon ALDP in fibroblasts is absent X-ALD_c.724_728delTGGCC commonName c.724_28delTGGCC X-ALD_c.725G>A commonName c.725G>A X-ALD_c.726G>A commonName 15, 33, 49, 59 X-ALD_c.726G>A alias c.726G>A X-ALD_c.726G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.730_731delinsGAGA commonName c.730_31delinsGAGA X-ALD_c.734C>A commonName c.734C>A X-ALD_c.739delG commonName c.739delG X-ALD_c.739_40insGCCATCG commonName c.739_40insGCCATCG X-ALD_c.742_745delGGCC commonName c.742_45delGGCC X-ALD_c.748_759del commonName c.748_59del12 X-ALD_c.749_751delTGG commonName c.749_51delTGG X-ALD_c.757_65delins4 commonName c.757_65delins4 X-ALD_c.[757C>G;1817C>T] commonName c.[757C>G;1817C>T] X-ALD_c.760A>G commonName 33, 58 X-ALD_c.760A>G alias c.760A>G X-ALD_c.760A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.760A>C commonName 33, 90 X-ALD_c.760A>C alias c.760A>C X-ALD_c.761delC commonName c.761delC X-ALD_c.761C>A commonName 33, 52 X-ALD_c.761C>A alias c.761C>A X-ALD_c.761C>T commonName 15, 33 X-ALD_c.761C>T alias c.761C>T X-ALD_c.773T>C commonName c.773T>C X-ALD_c.775C>T commonName c.775C>T X-ALD_c.784_785delTC commonName c.784delTC X-ALD_c.785_791del commonName c.785_91del7 X-ALD_c.785C>G commonName c.785C>G X-ALD_c.787C>T commonName c.787C>T X-ALD_c.788C>T commonName c.788C>T X-ALD_c.788C>T phenoCommon ALDP in fibroblasts is reduced X-ALD_c.790A>T commonName c.790A>T X-ALD_c.796G>A commonName 8, 16, 24, 33, 49, 52, 53, 59, 62, 72, 88, 93, 96 X-ALD_c.796G>A alias c.796G>A X-ALD_c.796G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.797G>A commonName c.797G>A X-ALD_c.799G>A commonName c.799G>A X-ALD_c.799G>T commonName c.799G>T X-ALD_c.799delG commonName c.799delG X-ALD_c.811G>A commonName c.811G>A X-ALD_c.815_817delAGG commonName c.815_17delAGG X-ALD_c.818C>A commonName c.818C>A X-ALD_c.818C>A phenoCommon ALDP in fibroblasts is present X-ALD_c.[820C>T;838C>T] commonName c.[820C>T;838C>T] X-ALD_c.826A>G commonName 22, 86 X-ALD_c.826A>G alias c.826A>G X-ALD_c.826A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.828_29insAAT commonName c.828_29insAAT X-ALD_c.829G>A commonName 15, 33, 60, 90 X-ALD_c.829G>A alias c.829G>A X-ALD_c.829G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.829G>C commonName c.829G>C X-ALD_c.829G>C phenoCommon ALDP in fibroblasts is present X-ALD_c.829G>T commonName c.829G>T X-ALD_c.830G>A commonName c.830G>A X-ALD_c.832G>T commonName c.832G>T X-ALD_c.832G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.836T>C commonName c.836T>C X-ALD_c.836T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.838C>T commonName 33, 50, 60 X-ALD_c.838C>T alias c.838C>T X-ALD_c.838C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.839G>T commonName 55, 93 X-ALD_c.839G>T alias c.839G>T X-ALD_c.847C>T commonName c.847C>T X-ALD_c.847C>G commonName 64, 93 X-ALD_c.847C>G alias c.847C>G X-ALD_c.848A>G commonName 89, 93 X-ALD_c.848A>G alias c.848A>G X-ALD_c.851C>A commonName c.851C>A X-ALD_c.851C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.852_53insACTC commonName 33, 82 X-ALD_c.852_53insACTC alias c.852_53insACTC X-ALD_c.852_53insG commonName c.852_53insG X-ALD_c.854G>C commonName 27, 49 X-ALD_c.854G>C alias c.854G>C X-ALD_c.869C>G commonName c.869C>G X-ALD_c.869C>A commonName c.869C>A X-ALD_c.869C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.871_873delGAG commonName 15, 22, 24, 31, 33, 49 X-ALD_c.871_873delGAG alias c.871_73delGAG X-ALD_c.871_873delGAG phenoCommon ALDP in fibroblasts is absent X-ALD_c.871G>A commonName 5, 58, 60, 64 X-ALD_c.871G>A alias c.871G>A X-ALD_c.871G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.873G>C commonName c.873G>C X-ALD_c.873G>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.880G>A commonName 7, 32 X-ALD_c.880G>A alias c.880G>A X-ALD_c.881C>T commonName c.881C>T X-ALD_c.886_899del commonName c.886_99del14 X-ALD_c.886T>C commonName c.886T>C X-ALD_c.887A>G commonName 24, 33, 49, 52, 62, 64, 88 X-ALD_c.887A>G alias c.887A>G X-ALD_c.887A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.887A>C commonName c.887A>C X-ALD_c.888T>G commonName c.888T>G X-ALD_c.888T>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.892_896delinsGTCA commonName c.892_96delinsGTCA X-ALD_c.892_896delinsGTCA phenoCommon ALDP in fibroblasts is absent X-ALD_c.893_894delinsT commonName c.893_94delinsT X-ALD_c.893_894insG commonName c.893_894insG X-ALD_c.892G>A commonName 32, 33 X-ALD_c.892G>A alias c.892G>A X-ALD_c.893G>A commonName 29, 38, 58 X-ALD_c.893G>A alias c.893G>A X-ALD_c.893G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.893G>T commonName c.893G>T X-ALD_c.892_93insGC commonName c.892_93insGC X-ALD_c.892_93insGC phenoCommon ALDP in fibroblasts is absent X-ALD_c.900G>A commonName 33, 53 X-ALD_c.900G>A alias c.900G>A X-ALD_c.900+1G>T commonName 49, 64 X-ALD_c.900+1G>T alias c.900+1G>T X-ALD_c.901-10C>T commonName c.901-10C>T X-ALD_c.901-5C>A commonName c.901-5C>A X-ALD_c.901-2A>C commonName c.901-2A>C X-ALD_c.901-1G>A commonName 49, 62 X-ALD_c.901-1G>A alias c.901-1G>A X-ALD_c.904G>A commonName 21, 72 X-ALD_c.904G>A alias c.904G>A X-ALD_c.904G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.904G>C commonName c.904G>C X-ALD_c.904G>C phenoCommon ALDP in fibroblasts is reduced X-ALD_c.905A>G commonName c.905A>G X-ALD_c.910delG commonName c.910delG X-ALD_c.919C>T commonName 62, 63 X-ALD_c.919C>T alias c.919C>T X-ALD_c.931C>T commonName 2, 60 X-ALD_c.931C>T alias c.931C>T X-ALD_c.931C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.933_34insA commonName c.933_34insA X-ALD_c.933_34insA phenoCommon ALDP in fibroblasts is absent X-ALD_c.937delC commonName 35, 64 X-ALD_c.937delC alias c.937delC X-ALD_c.938T>C commonName 33, 90 X-ALD_c.938T>C alias c.938T>C X-ALD_c.940G>C commonName c.940G>C X-ALD_c.943delT commonName c.943delT X-ALD_c.943delT phenoCommon ALDP in fibroblasts is absent X-ALD_c.944C>A commonName c.944C>A X-ALD_c.965T>C commonName 26, 39, 62 X-ALD_c.965T>C alias c.965T>C X-ALD_c.974T>C commonName c.974T>C X-ALD_c.977G>A commonName 2, 60 X-ALD_c.977G>A alias c.977G>A X-ALD_c.979_80insT commonName c.979_80insT X-ALD_c.979_80insT phenoCommon ALDP in fibroblasts is absent X-ALD_c.981T>A commonName c.981T>A X-ALD_c.986T>G commonName c.986T>G X-ALD_c.988_1005del commonName c.988_1005del18 X-ALD_c.991G>A commonName c.991G>A X-ALD_c.994C>T commonName c.994C>T X-ALD_c.994C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1001T>C commonName c.1001T>C X-ALD_c.1004T>G commonName c.1004T>G X-ALD_c.1007A>T commonName c.1007A>T X-ALD_c.1008G>T commonName c.1008G>T X-ALD_c.1009T>C commonName c.1009T>C X-ALD_c.1011T>A commonName c.1011T>A X-ALD_c.1016G>A commonName c.1016G>A X-ALD_c.1024T>C commonName c.1024T>C X-ALD_c.1024T>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1027G>A commonName c.1027G>A X-ALD_c.1028G>A commonName c.1028G>A X-ALD_c.1028G>T commonName 64, 93 X-ALD_c.1028G>T alias c.1028G>T X-ALD_c.1031T>C commonName c.1031T>C X-ALD_c.1072T>C commonName c.1072T>C X-ALD_c.1073C>G commonName c.1073C>G X-ALD_c.1076_1077delAG commonName c.1076_77delAG X-ALD_c.1079C>G commonName c.1079C>G X-ALD_c.1081+1G>T commonName c.1081+1G>T X-ALD_c.1082-3C>G commonName c.1082-3C>G X-ALD_c.1082-3C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1092delC commonName c.1092delC X-ALD_c.1092_93insA commonName c.1092_93insA X-ALD_c.1114A>T commonName c.1114A>T X-ALD_c.1117_1119delAAG commonName c.1117_19delAAG X-ALD_c.1135_36insC commonName c.1135_36insC X-ALD_c.1135_36insC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1137_38insC commonName c.1137_38insC X-ALD_c.1155delC commonName c.1155delC X-ALD_c.1159delA commonName c.1159delA X-ALD_c.1163_64insG commonName c.1163_64insG X-ALD_c.1163_64insG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1165C>G commonName 15, 60 X-ALD_c.1165C>G alias c.1165C>G X-ALD_c.1165C>T commonName c.1165C>T X-ALD_c.1166G>A commonName 13, 16, 33, 60, 97 X-ALD_c.1166G>A alias c.1166G>A X-ALD_c.1166G>A phenoCommon ALDP in fibroblasts is 41 ± 4% X-ALD_c.1171_1180del commonName c.1171_80del10 X-ALD_c.1172T>C commonName c.1172T>C X-ALD_c.1174C>G commonName 33, 88 X-ALD_c.1174C>G alias c.1174C>G X-ALD_c.1186G>A commonName 33, 60 X-ALD_c.1186G>A alias c.1186G>A X-ALD_c.1186G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1201C>T commonName 24, 29, 33, 51, 87, 88, 96 X-ALD_c.1201C>T alias c.1201C>T X-ALD_c.1202G>A commonName 8, 15, 22, 29, 32, 33, 40, 47, 49,, 60, 71, 72, 86, 88, 93 X-ALD_c.1202G>A alias c.1202G>A X-ALD_c.1202G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1210T>C commonName c.1210T>C X-ALD_c.1212_1214delGTC commonName c.1212_1214delGTC X-ALD_c.1219A>T commonName c.1219A>T X-ALD_c.1224G>A commonName 13, 33 X-ALD_c.1224G>A alias c.1224G>A X-ALD_c.[1224+1GT>TG;1165C>T] commonName c.[1224+1GT>TG;1165C>T] X-ALD_c.1224+2C>T commonName c.1224+2C>T X-ALD_c.1225-7_1239del22 commonName c.1225-7_1239del22 X-ALD_c.1225-2A>C commonName c.1225-2A>C X-ALD_c.1237G>A commonName c.1237G>A X-ALD_c.1237G>C commonName c.1237G>C X-ALD_c.1244A>G commonName c.1244A>G X-ALD_c.1248delA commonName c.1248delA X-ALD_c.1250delC commonName c.1250delC X-ALD_c.1250delC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1252C>T commonName 8, 15, 28, 29, 33, 40, 58 X-ALD_c.1252C>T alias c.1252C>T X-ALD_c.1252C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1263delG commonName c.1263delG X-ALD_c.1270delC commonName c.1270delC X-ALD_c.1279_1281delGAA commonName c.1279_81delGAA X-ALD_c.1288C>T commonName 33, 49 X-ALD_c.1288C>T alias c.1288C>T X-ALD_c.1315G>T commonName c.1315G>T X-ALD_c.1315G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1322_23insA commonName c.1322_23insA X-ALD_c.1322_23insA phenoCommon ALDP in fibroblasts is absent X-ALD_c.1330C>T commonName 32, 60 X-ALD_c.1330C>T alias c.1330C>T X-ALD_c.1359delT commonName c.1359delT X-ALD_c.1359delT phenoCommon ALDP in fibroblasts is absent X-ALD_c.1372G>T commonName c.1372G>T X-ALD_c.1390C>T commonName 6, 33, 49, 47, 64, 96 X-ALD_c.1390C>T alias c.1390C>T X-ALD_c.1390C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1394-2A>G commonName 32, 75 X-ALD_c.1394-2A>G alias c.1394-2A>G X-ALD_c.1396C>T commonName c.1396C>T X-ALD_c.[1399G>A;1850G>A] commonName c.[1399G>A;1850G>A] X-ALD_c.1411_12insA commonName c.1411_12insA X-ALD_c.1412_1413delAA commonName c.1412_13delAA X-ALD_c.1414_15insC commonName c.1414_15insC X-ALD_c.1415_1416delAG commonName 1, 7, 8, 10, 13, 15, 24, 29, 32, 33, 36, 40, 43, 48,, 49, 53, 58, 59, 60, 62, 63, 64, 85, 86, 88, 93 X-ALD_c.1415_1416delAG alias c.1415_16delAG X-ALD_c.1415_1416delAG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1416_1417delGG commonName c.1416_17delGG X-ALD_c.1420delA commonName c.1420delA X-ALD_c.1420delA phenoCommon ALDP in fibroblasts is absent X-ALD_c.1422_1426delCATCT commonName c.1422_26delCATCT X-ALD_c.1421T>C commonName 33, 88 X-ALD_c.1421T>C alias c.1421T>C X-ALD_c.1429G>T commonName 8, 15, 33 X-ALD_c.1429G>T alias c.1429G>T X-ALD_c.1430delA commonName c.1430delA X-ALD_c.1436delT commonName c.1436delT X-ALD_c.[1438C>A;901-5c>a] commonName c.[1438C>A;901-5c>a] X-ALD_c.1451C>G commonName c.1451C>G X-ALD_c.1451C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1462_63insTGG commonName c.1462_63insTGG X-ALD_c.1462_63insTGG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1469_1471delTGG commonName c.1469_71delTGG X-ALD_c.1470_71insGTG commonName c.1470_71insGTG X-ALD_c.1470_71insGTG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1478T>C commonName c.1478T>C X-ALD_c.1481delA commonName c.1481delA X-ALD_c.1488+1G>A commonName c.1488+1G>A X-ALD_c.1499G>T commonName c.1499G>T X-ALD_c.1501A>C commonName c.1501A>C X-ALD_c.1501A>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1505_06insC commonName c.1505_06insC X-ALD_c.1508_09insC commonName c.1508_09insC X-ALD_c.1508T>C commonName c.1508T>C X-ALD_c.1514T>C commonName c.1514T>C X-ALD_c.1515C>G commonName c.1515C>G X-ALD_c.1515C>G phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1519G>A commonName c.1519G>A X-ALD_c.1520G>A commonName 68, 88 X-ALD_c.1520G>A alias c.1520G>A X-ALD_c.1520G>T commonName c.1520G>T X-ALD_c.1523C>T commonName c.1523C>T X-ALD_c.1526A>T commonName 33, 59 X-ALD_c.1526A>T alias c.1526A>T X-ALD_c.1528G>A commonName c.1528G>A X-ALD_c.1529G>A commonName 33, 64 X-ALD_c.1529G>A alias c.1529G>A X-ALD_c.1531T>C commonName c.1531T>C X-ALD_c.1532G>A commonName c.1532G>A X-ALD_c.1533C>A commonName c.1533C>A X-ALD_c.1534G>T commonName c.1534G>T X-ALD_c.1534G>A commonName 7, 13, 23, 33, 57, 58, 76, 88, 93 X-ALD_c.1534G>A alias c.1534G>A X-ALD_c.1534G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1537A>C commonName 33, 69 X-ALD_c.1537A>C alias c.1537A>C X-ALD_c.1538A>G commonName c.1538A>G X-ALD_c.1538A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1540A>C commonName c.1540A>C X-ALD_c.1540A>G commonName c.1540A>G X-ALD_c.1541G>A commonName c.1541G>A X-ALD_c.1541G>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1544C>T commonName 8, 51 X-ALD_c.1544C>T alias c.1544C>T X-ALD_c.1547T>C commonName 33, 58, 71 X-ALD_c.1547T>C alias c.1547T>C X-ALD_c.1547T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1548G>A commonName c.1548G>A X-ALD_c.1551delC commonName 6, 33 X-ALD_c.1551delC alias c.1551delC X-ALD_c.1552C>G commonName c.1552C>G X-ALD_c.1552C>T commonName 6, 7, 32, 33, 53, 58, 88 X-ALD_c.1552C>T alias c.1552C>T X-ALD_c.1552C>T phenoCommon ALDP in fibroblasts is abs/red X-ALD_c.1553G>A commonName 9, 24, 32, 33, 49, 48, 53, 58, 60, 64, 88, 96 X-ALD_c.1553G>A alias c.1553G>A X-ALD_c.1553G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1559T>A commonName 54, 59 X-ALD_c.1559T>A alias c.1559T>A X-ALD_c.1564G>A commonName 7, 58 X-ALD_c.1564G>A alias c.1564G>A X-ALD_c.1564G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1567C>T commonName c.1567C>T X-ALD_c.1568T>C commonName c.1568T>C X-ALD_c.1570T>C commonName c.1570T>C X-ALD_c.1571G>A commonName c.1571G>A X-ALD_c.1571G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1573C>G commonName c.1573C>G X-ALD_c.1573C>T commonName c.1573C>T X-ALD_c.1573C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1585_1587delGGT commonName c.1585-87delGGT X-ALD_c.1585delG commonName 21, 62 X-ALD_c.1585delG alias c.1585delG X-ALD_c.1586_1590delGTGTG commonName c.1586_90delGTGTG X-ALD_c.1586_1590delGTGTG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1585G>A commonName c.1585G>A X-ALD_c.1586G>A commonName c.1586G>A X-ALD_c.1592_93insT commonName c.1592_93insT X-ALD_c.1597A>G commonName c.1597A>G X-ALD_c.1597A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1599G>T commonName c.1599G>T X-ALD_c.1600C>T commonName c.1600C>T X-ALD_c.1601C>G commonName 67, 86 X-ALD_c.1601C>G alias c.1601C>G X-ALD_c.1601C>T commonName c.1601C>T X-ALD_c.1601C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1598_99insA commonName c.1598_99insA X-ALD_c.1599delG commonName c.1599delG X-ALD_c.1599delG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1603_1604delCC commonName c.1603_04delCC X-ALD_c.1603_1991del commonName c.1603_1991del X-ALD_c.1603_1991del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1607C>A commonName c.1607C>A X-ALD_c.1609C>T commonName c.1609C>T X-ALD_c.1619T>C commonName c.1619T>C X-ALD_c.1619T>G commonName c.1619T>G X-ALD_c.1624_1626delATC commonName c.1624_26delATC X-ALD_c.1628delC commonName c.1628delC X-ALD_c.1628C>T commonName 27, 29, 33, 40, 49, 60, 65 X-ALD_c.1628C>T alias c.1628C>T X-ALD_c.1628C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1630C>A commonName c.1630C>A X-ALD_c.1630C>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1631A>G commonName 9, 33, 24, 88 X-ALD_c.1631A>G alias c.1631A>G X-ALD_c.1631A>G phenoCommon ALDP in fibroblasts is present X-ALD_c.1628_34duplication commonName c.1628_34duplication X-ALD_c.1628_34duplication phenoCommon ALDP in fibroblasts is absent X-ALD_c.1633A>T commonName c.1633A>T X-ALD_c.1634+1G>A commonName 6, 60 X-ALD_c.1634+1G>A alias c.1634+1G>A X-ALD_c.1634+1G>C commonName c.1634+1G>C X-ALD_c.1635-2A>G commonName c.1635-2A>G X-ALD_c.1635-2A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1654T>C commonName c.1654T>C X-ALD_c.1654T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1657C>G commonName c.1657C>G X-ALD_c.1661G>A commonName 28, 29, 33, 49, 52, 58, 60, 63, 64, 87, 88, 97 X-ALD_c.1661G>A alias c.1661G>A X-ALD_c.1661G>A phenoCommon ALDP in fibroblasts is 1 ± 0.5% X-ALD_c.1663G>A commonName c.1663G>A X-ALD_c.1666C>T commonName c.1666C>T X-ALD_c.1666C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1667A>G commonName 40, 59 X-ALD_c.1667A>G alias c.1667A>G X-ALD_c.1670_1671delTG commonName c.1670_71delTG X-ALD_c.1673T>C commonName c.1673T>C X-ALD_c.1673T>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1676A>G commonName c.1676A>G X-ALD_c.1678C>T commonName c.1678C>T X-ALD_c.1679C>T commonName 4, 7, 24, 33, 49, 71, 86, 88, 93, 96 X-ALD_c.1679C>T alias c.1679C>T X-ALD_c.1679C>T phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1679C>G commonName c.1679C>G X-ALD_c.1679C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1682A>T commonName c.1682A>T X-ALD_c.1682A>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1697T>A commonName c.1697T>A X-ALD_c.1697T>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1697T>C commonName c.1697T>C X-ALD_c.1697T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1699C>T commonName 33, 60 X-ALD_c.1699C>T alias c.1699C>T X-ALD_c.1714_1725del commonName c.1714_1725del12 X-ALD_c.1715C>A commonName c.1715C>A X-ALD_c.1715C>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1717delG commonName c.1717delG X-ALD_c.1720C>T commonName 53, 58 X-ALD_c.1720C>T alias c.1720C>T X-ALD_c.1720C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1727T>C commonName c.1727T>C X-ALD_c.1746delC commonName c.1746delC X-ALD_c.1748T>G commonName c.1748T>G X-ALD_c.1754T>C commonName c.1754T>C LQTS_NM_000238.2:c.87C>A commonName 87C>A LQTS_NM_000238.2:c.87C>A protEffect F29L LQTS_NM_000238.2:c.98A>C commonName 98A>C LQTS_NM_000238.2:c.98A>C protEffect N33T LQTS_NM_000238.2:c.132C>A commonName 132C>A LQTS_NM_000238.2:c.132C>A protEffect C44X LQTS_NM_000238.2:c.140G>T commonName 140G>T LQTS_NM_000238.2:c.140G>T protEffect G47V LQTS_NM_000238.2:c.157G>C commonName 157G>C LQTS_NM_000238.2:c.157G>C protEffect G53R LQTS_NM_000238.2:c.167G>A commonName 167G>A LQTS_NM_000238.2:c.167G>A protEffect R56Q LQTS_NM_000238.2:c.196T>G commonName 196T>G LQTS_NM_000238.2:c.196T>G protEffect C66G LQTS_NM_000238.2:c.209A>G commonName 209A>G LQTS_NM_000238.2:c.209A>G protEffect H70R LQTS_NM_000238.2:c.215C>A commonName 215C>A LQTS_NM_000238.2:c.215C>A protEffect P72Q LQTS_NM_000238.2:c.221_251del commonName 221-251del LQTS_NM_000238.2:c.221_251del protEffect 31 bp deletion LQTS_NM_000238.2:c.234_250dup commonName 234-250dup LQTS_NM_000238.2:c.234_250dup protEffect 16 bp duplication LQTS_NM_000238.2:p.A78P commonName A78P LQTS_NM_000238.2:p.A78P protEffect p.A78P LQTS_NM_000238.2:c.241C>T commonName 241C>T LQTS_NM_000238.2:c.241C>T protEffect Q81X LQTS_NM_000238.2:c.257T>G commonName 257G>T LQTS_NM_000238.2:c.257T>G protEffect L86R LQTS_NM_000238.2:c.260T>C commonName 260T>C LQTS_NM_000238.2:c.260T>C protEffect L87P LQTS_NM_000238.2:c.287T>C commonName 287T>C LQTS_NM_000238.2:c.287T>C protEffect I96T LQTS_NM_000238.2:c.296A>C commonName 296A>C LQTS_NM_000238.2:c.296A>C protEffect Y99S LQTS_NM_000238.2:c.391G>A commonName 391A>G LQTS_NM_000238.2:c.391G>A protEffect K101E LQTS_NM_000238.2:p.M124R commonName M124R LQTS_NM_000238.2:p.M124R protEffect p.M124R LQTS_NM_000238.2:c.453delC commonName 453delC LQTS_NM_000238.2:c.453delC protEffect 1 bp deletion LQTS_NM_000238.2:c.526C>T commonName 526C>T LQTS_NM_000238.2:c.526C>T protEffect R176W LQTS_NM_000238.2:c.558_600dup commonName 558-600dup LQTS_NM_000238.2:c.558_600dup protEffect 42 bp duplication LQTS_NM_000238.2:c.934C>T commonName 934C>T LQTS_NM_000238.2:c.934C>T protEffect R312C LQTS_NM_000238.2:c.1039C>T commonName 1039C>T LQTS_NM_000238.2:c.1039C>T protEffect P347S LQTS_NM_000238.2:c.1096C>T commonName 1096C>T LQTS_NM_000238.2:c.1096C>T protEffect R366X LQTS_NM_000238.2:c.1128G>A commonName 1128G>A LQTS_NM_000238.2:c.1129-2G>A commonName 1129-2 G>A LQTS_NM_000238.2:c.1199T>A commonName 1199T>A LQTS_NM_000238.2:c.1199T>A protEffect I100N LQTS_NM_000238.2:c.1261delA commonName 1261delA LQTS_NM_000238.2:c.1261delA protEffect 1 bp deletion LQTS_NM_000238.2:c.1283C>A commonName 1283C>A LQTS_NM_000238.2:c.1283C>A protEffect S428X LQTS_NM_000238.2:p.S428L commonName S428L LQTS_NM_000238.2:p.S428L protEffect p.S428L LQTS_NM_000238.2:c.1307C>T commonName 1307C>T LQTS_NM_000238.2:c.1307C>T protEffect T436M LQTS_NM_000238.2:c.1341C>A commonName 1341C>A LQTS_NM_000238.2:c.1341C>A protEffect Y447X LQTS_NM_000238.2:c.1352C>T commonName 1352C>T LQTS_NM_000238.2:c.1352C>T protEffect P451L LQTS_NM_000238.2:c.1408A>G commonName 1408A>G LQTS_NM_000238.2:c.1408A>G protEffect N470D LQTS_NM_000238.2:c.1421C>T commonName 1421C>T LQTS_NM_000238.2:c.1421C>T protEffect T474I LQTS_NM_000238.2:c.1479C>G commonName 1479C>G LQTS_NM_000238.2:c.1479C>G protEffect Y493X LQTS_NM_000238.2:c.1496_1523del commonName 1496-1523dle LQTS_NM_000238.2:c.1496_1523del protEffect I500-F508del LQTS_NM_000238.2:c.1501G>A commonName 1501A>G LQTS_NM_000238.2:c.1501G>A protEffect D501N LQTS_NM_000238.2:c.1592G>A commonName 1592G>A LQTS_NM_000238.2:c.1592G>A protEffect R531Q LQTS_NM_000238.2:p.L552S commonName L552S LQTS_NM_000238.2:p.L552S protEffect p.L552S LQTS_NM_000238.2:c.1600C>T commonName 1600C>T LQTS_NM_000238.2:c.1600C>T protEffect R635C LQTS_NM_000238.2:c.1655T>C commonName 1655T>C LQTS_NM_000238.2:c.1655T>C protEffect L552S LQTS_NM_000238.2:c.1672G>C commonName 1672G>C LQTS_NM_000238.2:c.1672G>C protEffect A558P LQTS_NM_000238.2:c.1681G>A commonName 1681G>A LQTS_NM_000238.2:c.1681G>A protEffect A561T LQTS_NM_000238.2:c.1682C>T commonName 1682C>T LQTS_NM_000238.2:c.1682C>T protEffect A561V LQTS_NM_000238.2:c.1691T>C commonName 1691T>C LQTS_NM_000238.2:c.1691T>C protEffect L564P LQTS_NM_000238.2:c.1705T>C commonName 1705T>C LQTS_NM_000238.2:c.1705T>C protEffect Y569H LQTS_NM_000238.2:c.1714G>C commonName 1714G>C LQTS_NM_000238.2:c.1714G>C protEffect G572R LQTS_NM_000238.2:c.1714G>T commonName 1714G>T LQTS_NM_000238.2:c.1714G>T protEffect G572C LQTS_NM_000238.2:c.1750G>A commonName 1750G>A LQTS_NM_000238.2:c.1750G>A protEffect W585C LQTS_NM_000238.2:c.1755G>T commonName 1755G>T LQTS_NM_000238.2:c.1755G>T protEffect W585C LQTS_NM_000238.2:c.1762A>G commonName 1762A>G LQTS_NM_000238.2:c.1762A>G protEffect N588D LQTS_NM_000238.2:c.1778T>C commonName 1778T>C LQTS_NM_000238.2:c.1778T>C protEffect I593R LQTS_NM_000238.2:c.1778T>G commonName 1778T>G LQTS_NM_000238.2:c.1778T>G protEffect I593G LQTS_NM_000238.2:p.I593X commonName I593X LQTS_NM_000238.2:p.I593X protEffect p.I593X LQTS_NM_000238.2:p.P596L commonName P596L LQTS_NM_000238.2:p.P596L protEffect p.P596L LQTS_NM_000238.2:c.1801G>A commonName 1801G>A LQTS_NM_000238.2:c.1801G>A protEffect G601S LQTS_NM_000238.2:c.1810G>A commonName 1810G>A LQTS_NM_000238.2:c.1810G>A protEffect G604S LQTS_NM_000238.2:c.1825G>A commonName 1825G>A LQTS_NM_000238.2:c.1825G>A protEffect D609N LQTS_NM_000238.2:c.1831T>C commonName 1831T>C LQTS_NM_000238.2:c.1831T>C protEffect Y611H LQTS_NM_000238.2:c.1833T>A/G commonName 1833T>A/G LQTS_NM_000238.2:c.1833T>A/G protEffect Y611X LQTS_NM_000238.2:c.1834G>T commonName 1834G>T LQTS_NM_000238.2:c.1834G>T protEffect V612L LQTS_NM_000238.2:c.1838C>T commonName 1838C>T LQTS_NM_000238.2:c.1838C>T protEffect T613M LQTS_NM_000238.2:c.1862G>A commonName 1862G>A LQTS_NM_000238.2:c.1862G>A protEffect S621N LQTS_NM_000238.2:c.1876G>A commonName 1876G>A LQTS_NM_000238.2:c.1876G>A protEffect G626S LQTS_NM_000238.2:c.1877G>T commonName 1877G>T LQTS_NM_000238.2:c.1877G>T protEffect G626V LQTS_NM_000238.2:c.1881C>G commonName 1881G>C LQTS_NM_000238.2:c.1881C>G protEffect F627L LQTS_NM_000238.2:c.1882G>A commonName 1882G>A LQTS_NM_000238.2:c.1882G>A protEffect G628S LQTS_NM_000238.2:c.1885A>G commonName 1885A>G LQTS_NM_000238.2:c.1885A>G protEffect N629D LQTS_NM_000238.2:c.1886A>G commonName 1886A>G LQTS_NM_000238.2:c.1886A>G protEffect N629S LQTS_NM_000238.2:p.N629K commonName N629K LQTS_NM_000238.2:p.N629K protEffect p.N629K LQTS_NM_000238.2:c.1888G>C commonName 1888G>C LQTS_NM_000238.2:c.1888G>C protEffect V630L LQTS_NM_000238.2:c.1889T>C commonName 1889T>C LQTS_NM_000238.2:c.1889T>C protEffect V630A LQTS_NM_000238.2:c.1894C>T commonName 1894C>T LQTS_NM_000238.2:c.1894C>T protEffect P632S LQTS_NM_000238.2:c.1898A>G commonName 1898A>G LQTS_NM_000238.2:c.1898A>G protEffect N633S LQTS_NM_000238.2:c.1912A>G commonName 1912A>G LQTS_NM_000238.2:c.1912A>G protEffect K638E LQTS_NM_000238.2:c.1913_1915del commonName 1913-15del LQTS_NM_000238.2:c.1913_1915del protEffect K638del LQTS_NM_000238.2:c.1920C>A commonName 1920C>A LQTS_NM_000238.2:c.1920C>A protEffect F640L LQTS_NM_000238.2:c.1933A>T commonName 1933A>T LQTS_NM_000238.2:c.1933A>T protEffect M645L LQTS_NM_000238.2:c.1951_1952delAT commonName 1951-1952delAT LQTS_NM_000238.2:c.1951_1952delAT protEffect 2 bp deletion LQTS_NM_000238.2:c.2001C>A commonName 2001C>A LQTS_NM_000238.2:c.2001C>A protEffect Y667X LQTS_NM_000238.2:c.2044G>T commonName 2044G>T LQTS_NM_000238.2:c.2044G>T protEffect E682X LQTS_NM_000238.2:c.2092G>T commonName 2092G>T LQTS_NM_000238.2:c.2092G>T protEffect E698X LQTS_NM_000238.2:c.2173C>T commonName 2173C>T LQTS_NM_000238.2:c.2173C>T protEffect Q725X LQTS_NM_000238.2:c.2254C>T commonName 2254C>T LQTS_NM_000238.2:c.2254C>T protEffect R752W LQTS_NM_000238.2:c.2350C>T commonName 2350C>T LQTS_NM_000238.2:c.2350C>T protEffect R784W LQTS_NM_000238.2:c.2356_2376dup commonName 2356-2376dup LQTS_NM_000238.2:c.2356_2376dup protEffect 31 bp duplication LQTS_NM_000238.2:c.2395delC commonName 2395delC LQTS_NM_000238.2:c.2395delC protEffect 1 bp deletion LQTS_NM_000238.2:c.2398+1G>C commonName 2398+1G>C LQTS_NM_000238.2:c.2398+1G>C protEffect IVS9 DS+1 LQTS_NM_000238.2:c.2414T>C commonName 2414T>C LQTS_NM_000238.2:c.2414T>C protEffect F805S LQTS_NM_000238.2:c.2414T>G commonName 2414T>G LQTS_NM_000238.2:c.2414T>G protEffect F805C LQTS_NM_000238.2:c.2453C>T commonName 2453C>T LQTS_NM_000238.2:c.2453C>T protEffect S818L LQTS_NM_000238.2:c.2464G>A commonName 2464G>A LQTS_NM_000238.2:c.2464G>A protEffect V822M LQTS_NM_000238.2:c.2467C>T commonName 2467C>T LQTS_NM_000238.2:c.2467C>T protEffect R823W LQTS_NM_000238.2:c.2582A>T commonName 2582A>T LQTS_NM_000238.2:c.2582A>T protEffect N861I LQTS_NM_000238.2:c.2592+1G>A commonName 2592+1G>A LQTS_NM_000238.2:c.2592+1G>A protEffect IVS1+ DS+1 LQTS_NM_000238.2:c.2616delC commonName 2616delC LQTS_NM_000238.2:c.2616delC protEffect P872fs877 LQTS_NM_000238.2:c.2660delG commonName 2660delG LQTS_NM_000238.2:c.2660delG protEffect 1 bp deletion LQTS_NM_000238.2:c.2750C>T commonName 2750C>T LQTS_NM_000238.2:c.2750C>T protEffect P917L LQTS_NM_000238.2:c.2764C>T commonName 2764C>T LQTS_NM_000238.2:c.2764C>T protEffect R922W LQTS_NM_000238.2:c.2906delG commonName 2906delG LQTS_NM_000238.2:c.2906delG protEffect 1 bp deletion LQTS_NM_000238.2:p.W1001X commonName W1001X LQTS_NM_000238.2:p.W1001X protEffect p.W1001X LQTS_NM_000238.2:c.3040C>T commonName 3040C>T LQTS_NM_000238.2:c.3040C>T protEffect R1014X LQTS_NM_000238.2:c.3094delC commonName 3094delC LQTS_NM_000238.2:c.3094delC protEffect 1 bp deletion LQTS_NM_000238.2:c.2690A>C commonName 2690A>C LQTS_NM_000238.2:c.2690A>C protEffect K897T LQTS_NM_000238.2:p.R1047L commonName R1047L LQTS_NM_000238.2:p.R1047L protEffect p.R1047L LQTS_NM_000238.2:c.1467C>T commonName 1467C>T LQTS_NM_000238.2:c.1467C>T protEffect I489I LQTS_NM_000238.2:c.1539C>T commonName 1539C>T LQTS_NM_000238.2:c.1539C>T protEffect F513F LQTS_NM_000238.2:c.1692A>G commonName 1692A>G LQTS_NM_000238.2:c.1692A>G protEffect L564L LQTS_NM_000238.2:c.1956T>C commonName 1956T>C LQTS_NM_000238.2:c.1956T>C protEffect Y652Y LQTS_NM_000238.2:c.2965+22A>G commonName 2965+22 A>G LQTS_NM_000238.2:c.2965+22A>G protEffect Intronic; variant LQTS_4557686:c.20C>T;226G>A commonName 20C>T, 226G>A LQTS_4557686:c.20C>T;226G>A protEffect T71I, D76N LQTS_4557686:c.95G>A commonName 95G>A LQTS_4557686:c.95G>A protEffect R32H LQTS_4557686:c.95G>A phenoCommon Romano-Ward syndrome LQTS_4557686:c.139G>T commonName 139G>T LQTS_4557686:c.139G>T protEffect V47F; L51H LQTS_4557686:c.139G>T phenoCommon Jervell and Lange-Nielsen syndrome LQTS_4557686:c.172A>C;176T>C;177G>T commonName 172A>C; 176T>C; 177G>T LQTS_4557686:c.172A>C;176T>C;177G>T protEffect T58P; L59P LQTS_4557686:c.221C>T commonName 221C>T LQTS_4557686:c.221C>T protEffect S74L LQTS_4557686:c.221C>T phenoCommon Romano-Ward syndrome LQTS_4557686:c.226G>A commonName 226G>A LQTS_4557686:c.226G>A protEffect D76L LQTS_4557686:c.226G>A phenoCommon RWS, JLNS LQTS_4557686:c.259T>C commonName 259T>C LQTS_4557686:c.259T>C protEffect W87R LQTS_4557686:c.259T>C phenoCommon Romano-Ward syndrome LQTS_4557686:c.292C>T commonName 292C>T LQTS_4557686:c.292C>T protEffect R98W LQTS_4557686:c.292C>T phenoCommon Romano-Ward syndrome LQTS_4557686:c.325G>A commonName 325G>A LQTS_4557686:c.325G>A protEffect V109I LQTS_4557686:c.325G>A phenoCommon Romano-Ward syndrome LQTS_4557686:c.379C>A commonName 379C>A LQTS_4557686:c.379C>A protEffect P127T LQTS_4557686:c.379C>A phenoCommon Romano-Ward syndrome LQTS_4557686:c.112G>A commonName 112A>G LQTS_4557686:c.112G>A protEffect S38G LQTS_4557686:c.112G>A phenoCommon Normal; variant LQTS_4557686:c.253G>A commonName 253G>A LQTS_4557686:c.253G>A protEffect D85N LQTS_4557686:c.253G>A phenoCommon Normal; variant LQTS_NM_000335.4:c.376A>G commonName 376A>G LQTS_NM_000335.4:c.376A>G protEffect K126E LQTS_NM_000335.4:c.376A>G phenoCommon Ideopathic ventricular fiblillation LQTS_NM_000335.4:c.892G>A commonName 892G>A LQTS_NM_000335.4:c.892G>A protEffect G298S LQTS_NM_000335.4:c.1052G>T commonName 1052G>T LQTS_NM_000335.4:c.1052G>T protEffect G351V LQTS_NM_000335.4:c.1052G>T phenoCommon Ideopathic ventricular fiblillation LQTS_NM_000335.4:p.L619F commonName L619F LQTS_NM_000335.4:p.L619F protEffect p.L619F LQTS_NM_000335.4:c.2989G>T commonName 2989G>T LQTS_NM_000335.4:c.2989G>T protEffect A997S LQTS_NM_000335.4:c.3305C>A commonName 3305C>A LQTS_NM_000335.4:c.3305C>A protEffect S1102Y LQTS_NM_000335.4:p.E1295K commonName E1295K LQTS_NM_000335.4:p.E1295K protEffect p.E1295K LQTS_NM_000335.4:c.3816delG commonName 3816delG LQTS_NM_000335.4:c.3816delG protEffect L1229ter/; Splice LQTS_NM_000335.4:c.3816delG phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4372T>G commonName 4372G>T LQTS_NM_000335.4:c.4372T>G protEffect G1406R LQTS_NM_000335.4:p.R1432G commonName R1432G LQTS_NM_000335.4:p.R1432G protEffect p.R1432G LQTS_NM_000335.4:c.4501G>C commonName 4501 C>G LQTS_NM_000335.4:c.4501G>C protEffect L1501V LQTS_NM_000335.4:c.4501G>C phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4511_4520del commonName 4511-4520del LQTS_NM_000335.4:c.4511_4520del protEffect 1505-1507delKPQ LQTS_NM_000335.4:c.4511_4520del phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:p.R1512W commonName R1512W LQTS_NM_000335.4:p.R1512W protEffect p.R1512W LQTS_NM_000335.4:c.4850_4852del commonName 4850-4852del LQTS_NM_000335.4:c.4850_4852del protEffect 1617delF LQTS_NM_000335.4:c.4850_4852del phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4868T>G commonName 4868 G>T LQTS_NM_000335.4:c.4868T>G protEffect R1623L LQTS_NM_000335.4:c.4868T>G phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4934T>C commonName 4934 C>T LQTS_NM_000335.4:c.4934T>C protEffect T1645M LQTS_NM_000335.4:c.4934T>C phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.4999A>G commonName 4999G>A LQTS_NM_000335.4:c.4999A>G protEffect I1667V LQTS_NM_000335.4:c.5227A>G commonName 5227G>A LQTS_NM_000335.4:c.5227A>G protEffect G1743R LQTS_NM_000335.4:c.5227A>G phenoCommon Brugada LQTS_NM_000335.4:c.5298C>A commonName 5298A>C LQTS_NM_000335.4:c.5298C>A protEffect M1766L LQTS_NM_000335.4:c.5298C>A phenoCommon Ideopathic ventricular fiblillation LQTS_NM_000335.4:c.5302G>A commonName 5302A>G LQTS_NM_000335.4:c.5302G>A protEffect I1768V LQTS_NM_000335.4:c.5329G>A commonName 5329G>A LQTS_NM_000335.4:c.5329G>A protEffect V1777M LQTS_NM_000335.4:c.5349G>A commonName 5349 G>A LQTS_NM_000335.4:c.5349G>A protEffect E1784K LQTS_NM_000335.4:c.5349G>A phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:c.5360A>G commonName 5360 G>A LQTS_NM_000335.4:c.5360A>G protEffect S1787N LQTS_NM_000335.4:c.5360A>G phenoCommon Romano-Ward syndrome LQTS_NM_000335.4:p.Y1795C commonName Y1795C LQTS_NM_000335.4:p.Y1795C protEffect p.Y1795C LQTS_NM_000335.4:p.Y1975H commonName Y1975H LQTS_NM_000335.4:p.Y1975H protEffect p.Y1975H LQTS_NM_000335.4:c.1673A>G commonName 1673 A>G LQTS_NM_000335.4:c.1673A>G protEffect H555R LQTS_NM_000335.4:c.4500G>T commonName 4500 G>T LQTS_NM_000335.4:c.4500G>T protEffect K1500N LQTS_NM_000335.4:c.1017C>T commonName 1017 C>T LQTS_NM_000335.4:c.1017C>T protEffect Y339Y LQTS_NM_000335.4:c.4299+53T>C commonName 4299 +53 T>C LQTS_NM_000335.4:c.4299+53T>C protEffect Intronic variant LQTS_NM_000335.4:c.5454T>C commonName 5454 C>T LQTS_NM_000335.4:c.5454T>C protEffect A1818A LQTS_NM_000335.4:c.5457C>T commonName 5457 C>T LQTS_NM_000335.4:c.5457C>T protEffect D1819D LQTS_NM_005136.2:c.25C>G commonName 25C>G LQTS_NM_005136.2:c.25C>G protEffect Q9E LQTS_NM_005136.2:c.25C>G phenoCommon Arrthymia LQTS_NM_005136.2:c.161T>C commonName 161T>C LQTS_NM_005136.2:c.161T>C protEffect M54T LQTS_NM_005136.2:c.161T>C phenoCommon Arrthymia LQTS_NM_005136.2:c.193G>A commonName 193G>A LQTS_NM_005136.2:c.193G>A protEffect V65M LQTS_NM_005136.2:c.193G>A phenoCommon Arrthymia LQTS_NM_005136.2:c.170T>C commonName 170T>C LQTS_NM_005136.2:c.170T>C protEffect I57T LQTS_NM_005136.2:c.170T>C phenoCommon Arrthymia LQTS_NM_005136.2:c.420C>T commonName 420C>T LQTS_NM_005136.2:c.420C>T protEffect A116V LQTS_NM_005136.2:c.420C>T phenoCommon Arrthymia LQTS_NM_005136.2:c.22A>G commonName 22A>G LQTS_NM_005136.2:c.22A>G protEffect T8A LQTS_NM_005136.2:c.22A>G phenoCommon Normal variant LQTS_NM_005136.2:c.-28A>G commonName -28 A/G LQTS_AF000571.1:c.211_219del commonName 211-219del LQTS_AF000571.1:c.211_219del protEffect 71-73 delAAP LQTS_AF000571.1:c.211_219del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.332A>G commonName 332 A>G LQTS_AF000571.1:c.332A>G protEffect Y111C LQTS_AF000571.1:c.332A>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.341T>C commonName 341T>C LQTS_AF000571.1:c.341T>C protEffect L114P LQTS_AF000571.1:c.470T>G commonName 470 T>G LQTS_AF000571.1:c.470T>G protEffect F157C LQTS_AF000571.1:c.470T>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.478G>A commonName 478 G>A LQTS_AF000571.1:c.478G>A protEffect E160K LQTS_AF000571.1:c.478G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.500_502del commonName 500-2 del LQTS_AF000571.1:c.500_502del protEffect F167W/ del168G LQTS_AF000571.1:c.500_502del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.502G>C commonName 502 G>C LQTS_AF000571.1:c.502G>C protEffect G168R LQTS_AF000571.1:c.502G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.504delG commonName 504delG LQTS_AF000571.1:c.504delG phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.513C>G commonName 513C>G LQTS_AF000571.1:c.513C>G protEffect Y171X LQTS_AF000571.1:c.513C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.520C>T commonName 520C>T LQTS_AF000571.1:c.520C>T protEffect R174C LQTS_AF000571.1:c.520C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.521G>A commonName 521G>A LQTS_AF000571.1:c.521G>A protEffect R174H LQTS_AF000571.1:c.521G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.532G>C commonName 532G>C LQTS_AF000571.1:c.532G>C protEffect A178P LQTS_AF000571.1:c.532G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.532G>A commonName 532G>A LQTS_AF000571.1:c.532G>A protEffect G178T LQTS_AF000571.1:c.532G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.535G>A commonName 535 G>A LQTS_AF000571.1:c.535G>A protEffect G179S LQTS_AF000571.1:c.535G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.551A>C commonName 551A>C LQTS_AF000571.1:c.551A>C protEffect Y184S LQTS_AF000571.1:c.551A>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.565G>A commonName 565G>A LQTS_AF000571.1:c.565G>A protEffect G189R LQTS_AF000571.1:c.565G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.569G>A commonName 569G>A LQTS_AF000571.1:c.569G>A protEffect R190Q LQTS_AF000571.1:c.569G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.572_576del commonName 572-76del LQTS_AF000571.1:c.572_576del phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:p.F193L commonName F193L LQTS_AF000571.1:p.F193L protEffect p.F193L LQTS_AF000571.1:c.580G>C commonName 580G>C LQTS_AF000571.1:c.580G>C protEffect A194P LQTS_AF000571.1:c.580G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.674C>T commonName 674C>T LQTS_AF000571.1:c.674C>T protEffect S225L LQTS_AF000571.1:c.674C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.724G>A commonName 724G>A LQTS_AF000571.1:c.724G>A protEffect D242N LQTS_AF000571.1:c.724G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.727C>T commonName 727C>T LQTS_AF000571.1:c.727C>T protEffect R243C LQTS_AF000571.1:c.727C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.728G>A commonName 728G>A LQTS_AF000571.1:c.728G>A protEffect R243H LQTS_AF000571.1:c.728G>A phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.742T>A commonName 742T>A LQTS_AF000571.1:c.742T>A protEffect W248R LQTS_AF000571.1:c.742T>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:p.L251P commonName L251P LQTS_AF000571.1:p.L251P protEffect p.L251P LQTS_AF000571.1:c.760G>A commonName 760G>A LQTS_AF000571.1:c.760G>A protEffect V254M LQTS_AF000571.1:c.760G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.775C>T commonName 775C>T LQTS_AF000571.1:c.775C>T protEffect R259C LQTS_AF000571.1:c.775C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.781G>A commonName 781G>A LQTS_AF000571.1:c.781G>A protEffect E261K LQTS_AF000571.1:c.781G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.783G>C commonName 783G>C LQTS_AF000571.1:c.783G>C protEffect E261D LQTS_AF000571.1:c.783G>C phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.797T>A commonName 797T>A LQTS_AF000571.1:c.797T>A protEffect L266P LQTS_AF000571.1:c.797T>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.805G>A commonName 805G>A LQTS_AF000571.1:c.805G>A protEffect G269S LQTS_AF000571.1:c.805G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.806G>A commonName 806G>A LQTS_AF000571.1:c.806G>A protEffect G269D LQTS_AF000571.1:c.806G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.817C>T commonName 817C>T LQTS_AF000571.1:c.817C>T protEffect L273F LQTS_AF000571.1:c.817C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.842A>G commonName 842A>G LQTS_AF000571.1:c.842A>G protEffect Y281C LQTS_AF000571.1:c.842A>G phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.898G>A commonName 898G>A LQTS_AF000571.1:c.898G>A protEffect A300T LQTS_AF000571.1:c.898G>A phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.914G>C commonName 914G>C LQTS_AF000571.1:c.914G>C protEffect W305S LQTS_AF000571.1:c.914G>C phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.914G>A commonName 914G>A LQTS_AF000571.1:c.914G>A protEffect W305X LQTS_AF000571.1:c.916G>A commonName 916G>A LQTS_AF000571.1:c.916G>A protEffect G306R LQTS_AF000571.1:c.916G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.921+1G>T commonName 921+1 G>T LQTS_AF000571.1:c.921+1G>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.922-2A>C commonName 922-2A>C LQTS_AF000571.1:c.922-2A>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.922-1G>C commonName 922-1G>C LQTS_AF000571.1:c.922-1G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.926C>G commonName 926C>G LQTS_AF000571.1:c.926C>G protEffect T309R LQTS_AF000571.1:c.926C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.926C>T commonName 926C>T LQTS_AF000571.1:c.926C>T protEffect T309I LQTS_AF000571.1:c.928G>A commonName 928G>A LQTS_AF000571.1:c.928G>A protEffect V310I LQTS_AF000571.1:c.928G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.932C>T commonName 932C>T LQTS_AF000571.1:c.932C>T protEffect T311I LQTS_AF000571.1:c.932C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.935C>T commonName 935C>T LQTS_AF000571.1:c.935C>T protEffect T312I LQTS_AF000571.1:c.935C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.939C>G commonName 939C>G LQTS_AF000571.1:c.939C>G protEffect I313M LQTS_AF000571.1:c.939C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.940G>A commonName 940G>A LQTS_AF000571.1:c.940G>A protEffect G314S LQTS_AF000571.1:c.940G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.940G>T commonName 940G>T LQTS_AF000571.1:c.940G>T protEffect G314C LQTS_AF000571.1:c.944A>C commonName 944A>C LQTS_AF000571.1:c.944A>C protEffect Y315S LQTS_AF000571.1:c.944A>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.944A>G commonName 944A>G LQTS_AF000571.1:c.944A>G protEffect Y315C LQTS_AF000571.1:c.944A>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.946G>C commonName 946G>C LQTS_AF000571.1:c.946G>C protEffect G316R LQTS_AF000571.1:c.949G>A commonName 949G>A LQTS_AF000571.1:c.949G>A protEffect D317N LQTS_AF000571.1:c.949G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.954G>C commonName 954G>C LQTS_AF000571.1:c.954G>C protEffect K318N LQTS_AF000571.1:c.954G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.958C>G commonName 958C>G LQTS_AF000571.1:c.958C>G protEffect P320A LQTS_AF000571.1:c.958C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.973G>A commonName 973G>A LQTS_AF000571.1:c.973G>A protEffect G325R LQTS_AF000571.1:c.973G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1008delC commonName 1008delC LQTS_AF000571.1:c.1008delC phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1015_1017del commonName 1015-17del LQTS_AF000571.1:c.1015_1017del protEffect 339del F LQTS_AF000571.1:c.1015_1017del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1017_1019del commonName 1017-19del LQTS_AF000571.1:c.1017_1019del protEffect 340del F LQTS_AF000571.1:c.1017_1019del phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1022C>A commonName 1022C>A LQTS_AF000571.1:c.1022C>A protEffect A341E LQTS_AF000571.1:c.1022C>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1022C>T commonName 1022C>T LQTS_AF000571.1:c.1022C>T protEffect A341V LQTS_AF000571.1:c.1022C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1024C>T commonName 1024C>T LQTS_AF000571.1:c.1024C>T protEffect L342F LQTS_AF000571.1:c.1024C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1032G>A commonName 1032G>A LQTS_AF000571.1:c.1032G>A protEffect A344A LQTS_AF000571.1:c.1032G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1032G>T commonName 1032G>T LQTS_AF000571.1:c.1032G>T protEffect A344A LQTS_AF000571.1:c.1032G>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1032G>C commonName 1032G>C LQTS_AF000571.1:c.1032G>C protEffect A344A LQTS_AF000571.1:c.1032G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1033G>C commonName 1033G>C LQTS_AF000571.1:c.1033G>C protEffect G345R LQTS_AF000571.1:c.1033G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1033G>A commonName 1033G>A LQTS_AF000571.1:c.1033G>A protEffect G345E LQTS_AF000571.1:c.1033G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1046C>G commonName 1046G>C LQTS_AF000571.1:c.1046C>G protEffect S349W LQTS_AF000571.1:c.1046C>G phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1058T>C commonName 1058T>C LQTS_AF000571.1:c.1058T>C protEffect L353P LQTS_AF000571.1:c.1058T>C phenoCommon   LQTS_AF000571.1:c.1066C>T commonName 1066C>T LQTS_AF000571.1:c.1066C>T protEffect Q356X LQTS_AF000571.1:c.1070A>G commonName 1070A>G LQTS_AF000571.1:c.1070A>G protEffect Q357R LQTS_AF000571.1:c.1096C>T commonName 1096C>T LQTS_AF000571.1:c.1096C>T protEffect R366W LQTS_AF000571.1:c.1096C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1097G>A commonName 1097G>A LQTS_AF000571.1:c.1097G>A protEffect R366Q LQTS_AF000571.1:c.1097G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1097G>C commonName 1097G>C LQTS_AF000571.1:c.1097G>C protEffect R366P LQTS_AF000571.1:c.1097G>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1111G>A commonName 1111G>A LQTS_AF000571.1:c.1111G>A protEffect A371T LQTS_AF000571.1:c.1111G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1117T>C commonName 1117T>C LQTS_AF000571.1:c.1117T>C protEffect S373P LQTS_AF000571.1:c.1117T>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1172C>T commonName 1172C>T LQTS_AF000571.1:c.1172C>T protEffect T391I LQTS_AF000571.1:c.1172C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1174T>C commonName 1174C>T LQTS_AF000571.1:c.1174T>C protEffect W392R LQTS_AF000571.1:c.1174T>C phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1188delC commonName 1188delC LQTS_AF000571.1:c.1188delC phenoCommon Jervell and Lange-Nielsen syndrome LQTS_AF000571.1:c.760G>A;1249G>A commonName 760G>A, 1249G>A 5 LQTS_AF000571.1:c.760G>A;1249G>A protEffect V417M, V254M LQTS_AF000571.1:c.1343delC commonName 1343delC LQTS_AF000571.1:c.1343delC phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1552C>T commonName 1552C>T LQTS_AF000571.1:c.1552C>T protEffect R518X LQTS_AF000571.1:c.1552C>T phenoCommon RWS(r); / ; JLNS LQTS_AF000571.1:c.1573G>A commonName 1573G>A LQTS_AF000571.1:c.1573G>A protEffect A525T LQTS_AF000571.1:c.1573G>A phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.1588C>T commonName 1588C>T LQTS_AF000571.1:c.1588C>T protEffect Q530X LQTS_AF000571.1:c.1588C>T phenoCommon RWS/JLNS LQTS_AF000571.1:c.1597C>T commonName 1597C>T LQTS_AF000571.1:c.1597C>T protEffect R533W LQTS_AF000571.1:c.1597C>T phenoCommon Romano-Ward syndrome, recessive/with variable penetrans LQTS_AF000571.1:c.1615C>T commonName 1615C>T LQTS_AF000571.1:c.1615C>T protEffect R539W LQTS_AF000571.1:c.1615C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1663C>T commonName 1663C>T LQTS_AF000571.1:c.1663C>T protEffect R555C LQTS_AF000571.1:c.1663C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1697C>T commonName 1697C>T LQTS_AF000571.1:c.1697C>T protEffect S566F LQTS_AF000571.1:c.1697C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1703G>C commonName 1703G>C LQTS_AF000571.1:c.1703G>C protEffect G568A LQTS_AF000571.1:c.1747C>T commonName 1747C>T LQTS_AF000571.1:c.1747C>T protEffect R583C LQTS_AF000571.1:c.1747C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1760C>T commonName 1760C>T LQTS_AF000571.1:c.1760C>T protEffect T587M LQTS_AF000571.1:c.1760C>T phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1766G>A commonName 1766G>A LQTS_AF000571.1:c.1766G>A protEffect G589D LQTS_AF000571.1:c.1766G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1772G>A commonName 1772G>A LQTS_AF000571.1:c.1772G>A protEffect R591H LQTS_AF000571.1:c.1772G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1781G>A commonName 1781G>A LQTS_AF000571.1:c.1781G>A protEffect R594Q LQTS_AF000571.1:c.1781G>A phenoCommon Romano-Ward syndrome LQTS_AF000571.1:c.1927G>A commonName 1927G>A LQTS_AF000571.1:c.1927G>A protEffect G643S LQTS_AF000571.1:c.1927G>A phenoCommon   LQTS_AF000571.1:c.435C>T commonName 435C>T LQTS_AF000571.1:c.435C>T protEffect I145I LQTS_AF000571.1:c.1110G>A commonName 1110G>A LQTS_AF000571.1:c.1110G>A protEffect A370A LQTS_AF000571.1:c.1394-12C>T commonName 1394 -12 C>T LQTS_AF000571.1:c.1638G>A commonName 1638G>A LQTS_AF000571.1:c.1638G>A protEffect S546S LQTS_AF000571.1:c.1685+23G>A commonName 1685 +23 G>A LQTS_AF000571.1:c.1732+43T>C commonName 1732 +43 T>C LQTS_AF000571.1:c.1986C>T commonName 1986C>T LQTS_AF000571.1:c.1986C>T protEffect Y642Y X-ALD_c.1755delG commonName c.1755delG X-ALD_c.1759_1770del commonName c.1759_70del12 X-ALD_c.1765delC commonName c.1765delC X-ALD_c.1768C>T commonName 20, 88 X-ALD_c.1768C>T alias c.1768C>T X-ALD_c.1771delC commonName c.1771delC X-ALD_c.1771C>T commonName 24, 33, 53, 72 X-ALD_c.1771C>T alias c.1771C>T X-ALD_c.1771C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.1772G>C commonName 49, 44 X-ALD_c.1772G>C alias c.1772G>C X-ALD_c.1772G>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1772G>A commonName 13, 33, 78 X-ALD_c.1772G>A alias c.1772G>A X-ALD_c.1772G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1780G>C commonName c.1780G>C X-ALD_c.1780+1G>A commonName 7, 53 X-ALD_c.1780+1G>A alias c.1780+1G>A X-ALD_c.1780+2T>G commonName 38, 58 X-ALD_c.1780+2T>G alias c.1780+2T>G X-ALD_c.1781-2A>G commonName 32, 33 X-ALD_c.1781-2A>G alias c.1781-2A>G X-ALD_c.1781-1G>A commonName c.1781-1G>A X-ALD_c.1781-1G>T commonName c.1781-1G>T X-ALD_c.1784G>A commonName c.1784G>A X-ALD_c.1785G>A commonName 24, 59 X-ALD_c.1785G>A alias c.1785G>A X-ALD_c.1790C>G commonName c.1790C>G X-ALD_c.1790C>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1791_1792delTA commonName c.1791_92delTA X-ALD_c.1791_1792delTA phenoCommon ALDP in fibroblasts is absent X-ALD_c.1802G>A commonName 27, 33, 53, 79 X-ALD_c.1802G>A alias c.1802G>A X-ALD_c.1802G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1803G>A commonName c.1803G>A X-ALD_c.1804A>T commonName c.1804A>T X-ALD_c.1814T>A commonName c.1814T>A X-ALD_c.1814T>C commonName c.1814T>C X-ALD_c.1816T>C commonName 7, 72, 96 X-ALD_c.1816T>C alias c.1816T>C X-ALD_c.1816T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1817C>T commonName 6, 13, 24, 33, 49, 52, 57, 59, 60, 97 X-ALD_c.1817C>T alias c.1817C>T X-ALD_c.1817C>T phenoCommon ALDP in fibroblasts is 25 ± 1.5% X-ALD_c.1820delG commonName c.1820delG X-ALD_c.1820delG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1820G>A commonName 52, 58 X-ALD_c.1820G>A alias c.1820G>A X-ALD_c.1820G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1822G>A commonName c.1822G>A X-ALD_c.1823G>A commonName c.1823G>A X-ALD_c.1825G>A commonName 15, 16, 33, 49, 60, 62, 72, 88, 97 X-ALD_c.1825G>A alias c.1825G>A X-ALD_c.1825G>A phenoCommon ALDP in fibroblasts is 2.1 ± 1.3% X-ALD_c.1826A>G commonName 16, 97 X-ALD_c.1826A>G alias c.1826A>G X-ALD_c.1826A>G phenoCommon ALDP in fibroblasts is 1.8 ± 0.9% X-ALD_c.1833G>C commonName c.1833G>C X-ALD_c.1838T>A commonName c.1838T>A X-ALD_c.1846G>A commonName 32, 97 X-ALD_c.1846G>A alias c.1846G>A X-ALD_c.1846G>A phenoCommon ALDP in fibroblasts is 4.3 ± 1.7% X-ALD_c.1847C>A commonName c.1847C>A X-ALD_c.1847C>T commonName c.1847C>T X-ALD_c.1849delC commonName c.1849delC X-ALD_c.1849delC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1849C>T commonName 6, 15, 16, 33, 49, 59, 60, 86, 88 X-ALD_c.1849C>T alias c.1849C>T X-ALD_c.1849C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1849C>G commonName 15, 33, 64, 86 X-ALD_c.1849C>G alias c.1849C>G X-ALD_c.1849C>A commonName c.1849C>A X-ALD_c.1850G>A commonName 6, 13, 17, 33, 49, 57, 62, 88, 96 X-ALD_c.1850G>A alias c.1850G>A X-ALD_c.1850G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1850G>T commonName c.1850G>T X-ALD_c.1850G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1859delA commonName c.1859delA X-ALD_c.1859A>G commonName c.1859A>G X-ALD_c.1859A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.1865+1G>A commonName c.1865+1G>A X-ALD_c.1865+1G>T commonName c.1865+1G>T X-ALD_c.1866-15g>a commonName c.1866-15g>a X-ALD_c.1866-10G>A commonName 11, 29, 30, 32, 33, 58, 72 X-ALD_c.1866-10G>A alias c.1866-10G>A X-ALD_c.1866-10G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1866-2A>T commonName c.1866-2A>T X-ALD_c.1866-2A>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1876G>A commonName 22, 33, 49, 96 X-ALD_c.1876G>A alias c.1876G>A X-ALD_c.1876G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1877C>A commonName c.1877C>A X-ALD_c.1883T>C commonName 33, 60 X-ALD_c.1883T>C alias c.1883T>C X-ALD_c.1883T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1885G>C commonName c.1885G>C X-ALD_c.1885G>C phenoCommon ALDP in fibroblasts is present X-ALD_c.1888G>A commonName c.1888G>A X-ALD_c.1889A>G commonName c.1889A>G X-ALD_c.1891T>C commonName 32, 33, 60 X-ALD_c.1891T>C alias c.1891T>C X-ALD_c.1891T>C phenoCommon ALDP in fibroblasts is absent X-ALD_c.1892G>A commonName 33, 49, 76, 93 X-ALD_c.1892G>A alias c.1892G>A X-ALD_c.1893C>G commonName c.1893C>G X-ALD_c.1894A>C commonName 33, 96 X-ALD_c.1894A>C alias c.1894A>C X-ALD_c.1895C>T commonName 33, 49, 58 X-ALD_c.1895C>T alias c.1895C>T X-ALD_c.1895C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.1899delC commonName c.1899delC X-ALD_c.1898G>T commonName c.1898G>T X-ALD_c.1898G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1899C>A commonName 29, , 96 X-ALD_c.1899C>A alias c.1899C>A X-ALD_c.1899C>T commonName c.1899C>T X-ALD_c.1903G>A commonName 49, 58 X-ALD_c.1903G>A alias c.1903G>A X-ALD_c.1903G>A phenoCommon ALDP in fibroblasts is present X-ALD_c.1903_04insCCA commonName c.1903_04insCCA X-ALD_c.1903_04insCCA phenoCommon ALDP in fibroblasts is present X-ALD_c.1907_1925del commonName c.1907_25del19 X-ALD_c.1907G>T commonName 27, 42 X-ALD_c.1907G>T alias c.1907G>T X-ALD_c.1907G>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1912G>T commonName c.1912G>T X-ALD_c.1918G>A commonName c.1918G>A X-ALD_c.1933C>T commonName 22, 33 X-ALD_c.1933C>T alias c.1933C>T X-ALD_c.1933C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1936G>C commonName 29, 33 X-ALD_c.1936G>C alias c.1936G>C X-ALD_c.1939_40insGG commonName 71, 72 X-ALD_c.1939_40insGG alias c.1939_40insGG X-ALD_c.1939_40insGG phenoCommon ALDP in fibroblasts is absent X-ALD_c.1942A>T commonName c.1942A>T X-ALD_c.1948_1949delGC commonName c.1948_49delGC X-ALD_c.1948_1949delGC phenoCommon ALDP in fibroblasts is absent X-ALD_c.1961T>G commonName c.1961T>G X-ALD_c.1961T>C commonName 49, 62, 97 X-ALD_c.1961T>C alias c.1961T>C X-ALD_c.1961T>C phenoCommon ALDP in fibroblasts is 1.5 ± 1.3% X-ALD_c.1964T>C commonName c.1964T>C X-ALD_c.1964T>C phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1967C>T commonName c.1967C>T X-ALD_c.1967C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1969_1971delATC commonName c.1969_71delATC X-ALD_c.1970_1972delTCA commonName c.1970_72delTCA X-ALD_c.1973C>T commonName c.1973C>T X-ALD_c.1973C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.1978C>T commonName 7, 13, 16, 23, 24, 32, 33, 49, 53, 57, 60, 88, 97 X-ALD_c.1978C>T alias c.1978C>T X-ALD_c.1978C>T phenoCommon ALDP in fibroblasts is 1.6 ± 0.8% X-ALD_c.1979G>A commonName c.1979G>A X-ALD_c.1979G>A phenoCommon ALDP in fibroblasts is absent X-ALD_c.1979G>C commonName c.1979G>C X-ALD_c.1982_1983delCC commonName c.1982-1983delCC X-ALD_c.1988T>A commonName c.1988T>A X-ALD_c.1988T>A phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1988_89insT commonName c.1988_89insT X-ALD_c.1991+1G>A commonName c.1991+1G>A X-ALD_c.1991+2T>C commonName c.1991+2T>C X-ALD_c.1992-1G>A commonName c.1992-1G>A X-ALD_c.1993_1995delinsGAG commonName c.1993_95delinsGAG X-ALD_c.1993_1995delinsGAG phenoCommon ALDP in fibroblasts is present X-ALD_c.1997A>C commonName c.1997A>C X-ALD_c.1998C>G commonName c.1998C>G X-ALD_c.1999C>G commonName 49, 62, 90, 97 X-ALD_c.1999C>G alias c.1999C>G X-ALD_c.1999C>G phenoCommon ALDP in fibroblasts is 2.9 ± 1% X-ALD_c.2000A>G commonName c.2000A>G X-ALD_c.2000A>T commonName c.2000A>T X-ALD_c.2000A>T phenoCommon ALDP in fibroblasts is reduced X-ALD_c.1999_2000delCA commonName c.1999_2000delCA X-ALD_c.2002A>C commonName c.2002A>C X-ALD_c.2003C>T commonName c.2003C>T X-ALD_c.2003C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.2006_2007delAC commonName c.2006_2007delAC X-ALD_c.2006A>G commonName 33, 58 X-ALD_c.2006A>G alias c.2006A>G X-ALD_c.2006A>G phenoCommon ALDP in fibroblasts is absent X-ALD_c.2007C>G commonName c.2007C>G X-ALD_c.2010_11insT commonName c.2010_11insT X-ALD_c.2014C>T commonName 25, 33, 88 X-ALD_c.2014C>T alias c.2014C>T X-ALD_c.2014C>T phenoCommon ALDP in fibroblasts is absent X-ALD_c.2019C>T commonName c.2019C>T X-ALD_c.2026G>T commonName c.2026G>T X-ALD_c.2030G>A commonName c.2030G>A X-ALD_c.2035T>C commonName 14, 88 X-ALD_c.2035T>C alias c.2035T>C X-ALD_c.2036G>A commonName c.2036G>A X-ALD_c.2037G>A commonName 32, 33 X-ALD_c.2037G>A alias c.2037G>A X-ALD_c.2051T>C commonName c.2051T>C X-ALD_c.2078C>T commonName c.2078C>T X-ALD_c.2078C>T phenoCommon ALDP in fibroblasts is present X-ALD_c.2238+8C>G commonName c.2238+8C>G X-ALD_c.1_1488del commonName exon1-5del X-ALD_c.901_1081del commonName exon2del X-ALD_c.901_1081del phenoCommon ALDP in fibroblasts is absent X-ALD_c.901_1780del commonName exon2-7del X-ALD_c.901_1780del phenoCommon ALDP in fibroblasts is absent X-ALD_c.901_2238del commonName exon2-10del X-ALD_c.1082_1488del commonName exon3-5del X-ALD_c.1082_1488del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1082_1634del commonName exon3-6del X-ALD_c.1082_1780del commonName exon3-7del X-ALD_c.1082_2238del commonName exon3-10del X-ALD_c.1082_2238del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1394_1488del commonName exon5del X-ALD_c.1489_1634del commonName exon6del X-ALD_c.1489_2238del commonName exon6-10del X-ALD_c.1635_1991del commonName exon7-9del X-ALD_c.1635_2238del commonName exon7-10del X-ALD_c.1635_2238del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1781_1991del commonName exon8-9del X-ALD_c.1781_1991del phenoCommon ALDP in fibroblasts is absent X-ALD_c.1781_2238del commonName exon8-10del ACTA1:c.1000C>T protEffect ACTA1:p.Pro334Ser ACTA1:c.1001C>G protEffect ACTA1:p.Pro334Arg ACTA1:c.1006G>A protEffect ACTA1:p.Glu336Lys ACTA1:c.1006G>C protEffect ACTA1:p.Glu336Gln ACTA1:c.1007A>C protEffect ACTA1:p.Glu336Ala ACTA1:c.1012A>G protEffect ACTA1:p.Lys338Glu ACTA1:c.1013A>T protEffect ACTA1:p.Lys338Ile ACTA1:c.1049C>T protEffect ACTA1:p.Ser350Leu ACTA1:c.1057A>G protEffect ACTA1:p.Thr353Ala ACTA1:c.1061T>A protEffect ACTA1:p.Phe354Tyr ACTA1:c.1061T>C protEffect ACTA1:p.Phe354Ser ACTA1:c.1075A>C protEffect ACTA1:p.Ile359Leu ACTA1:c.109G>C protEffect ACTA1:p.Val37Leu ACTA1:c.109G>T protEffect ACTA1:p.Val37Leu ACTA1:c.1106C>T protEffect ACTA1:p.Pro369Leu ACTA1:c.110T>C protEffect ACTA1:p.Val37Ala ACTA1:c.1111A>C protEffect ACTA1:p.Ile371Leu ACTA1:c.1114G>T protEffect ACTA1:p.Val372Phe ACTA1:c.1120C>A protEffect ACTA1:p.Arg374Ser ACTA1:c.1120C>T protEffect ACTA1:p.Arg374Cys ACTA1:c.1123A>C protEffect ACTA1:p.Lys375Gln ACTA1:c.1123A>G protEffect ACTA1:p.Lys375Glu ACTA1:c.1125A>C protEffect ACTA1:p.Lys375Asn ACTA1:c.1127G>C protEffect ACTA1:p.Cys376Ser ACTA1:c.1130T>A protEffect ACTA1:p.Phe377Tyr ACTA1:c.1130T>G protEffect ACTA1:p.Phe377Cys ACTA1:c.1132T>C protEffect ACTA1:p.Stop378Gln ACTA1:c.1133A>G protEffect ACTA1:p.Stop378Trp ACTA1:c.1134G>T protEffect ACTA1:p.Stop378Tyr ACTA1:c.113G>C protEffect ACTA1:p.Gly38Ala ACTA1:c.119C>T protEffect ACTA1:p.Pro40Leu ACTA1:c.121C>T protEffect ACTA1:p.Arg41Stop ACTA1:c.124C>T protEffect ACTA1:p.His42Tyr ACTA1:c.128A>G protEffect ACTA1:p.Gln43Arg ACTA1:c.131G>T protEffect ACTA1:p.Gly44Val ACTA1:c.133G>T protEffect ACTA1:p.Val45Phe ACTA1:c.137T>C protEffect ACTA1:p.Met46Thr ACTA1:c.142G>A protEffect ACTA1:p.Gly48Ser ACTA1:c.142G>T protEffect ACTA1:p.Gly48Cys ACTA1:c.143G>A protEffect ACTA1:p.Gly48Asp ACTA1:c.145A>G protEffect ACTA1:p.Met49Val ACTA1:c.169G>C protEffect ACTA1:p.Gly57Arg ACTA1:c.16G>A protEffect ACTA1:p.Glu6Lys ACTA1:c.172G>A protEffect ACTA1:p.Asp58Asn ACTA1:c.197T>A protEffect ACTA1:p.Ile66Asn ACTA1:c.197T>G protEffect ACTA1:p.Ile66Ser ACTA1:c.203C>A protEffect ACTA1:p.Thr68Asn ACTA1:c.203C>T protEffect ACTA1:p.Thr68Ile ACTA1:c.209A>G protEffect ACTA1:p.Lys70Arg ACTA1:c.210G>A protEffect ACTA1:p.Lys70Lys ACTA1:c.215C>G protEffect ACTA1:p.Pro72Arg ACTA1:c.217A>G protEffect ACTA1:p.Ile73Val ACTA1:c.217A>T protEffect ACTA1:p.Ile73Phe ACTA1:c.220G>A protEffect ACTA1:p.Glu74Lys ACTA1:c.223C>A protEffect ACTA1:p.His75Asn ACTA1:c.224A>G protEffect ACTA1:p.His75Arg ACTA1:c.224A>T protEffect ACTA1:p.His75Leu ACTA1:c.227G>A protEffect ACTA1:p.Gly76Asp ACTA1:c.229A>C protEffect ACTA1:p.Ile77Leu ACTA1:c.230T>G protEffect ACTA1:p.Ile77Ser ACTA1:c.235A>G protEffect ACTA1:p.Thr79Ala ACTA1:c.253G>A protEffect ACTA1:p.Glu85Lys ACTA1:c.282C>G protEffect ACTA1:p.Asn94Lys ACTA1:c.287T>C protEffect ACTA1:p.Leu96Pro ACTA1:c.324C>A protEffect ACTA1:p.Thr108Thr ACTA1:c.327G>C protEffect ACTA1:p.Glu109Asp ACTA1:c.338A>G protEffect ACTA1:p.Asn113Ser ACTA1:c.343A>G protEffect ACTA1:p.Lys115Glu ACTA1:c.346G>A protEffect ACTA1:p.Ala116Thr ACTA1:c.346G>T protEffect ACTA1:p.Ala116Ser ACTA1:c.350A>C protEffect ACTA1:p.Asn117Thr ACTA1:c.350A>G protEffect ACTA1:p.Asn117Ser ACTA1:c.353G>A protEffect ACTA1:p.Arg118His ACTA1:c.360G>T protEffect ACTA1:p.Lys120Asn ACTA1:c.365C>G protEffect ACTA1:p.Thr122Ser ACTA1:c.37G>A protEffect ACTA1:p.Asp13Asn ACTA1:c.400A>G protEffect ACTA1:p.Met134Val ACTA1:c.402G>A protEffect ACTA1:p.Met134Ile ACTA1:c.407T>C protEffect ACTA1:p.Val136Ala ACTA1:c.413T>C protEffect ACTA1:p.Ile138Thr ACTA1:c.414C>G protEffect ACTA1:p.Ile138Met ACTA1:c.417G>C protEffect ACTA1:p.Gln139His ACTA1:c.418G>C protEffect ACTA1:p.Ala140Pro ACTA1:c.419C>A protEffect ACTA1:p.Ala140Asp ACTA1:c.422T>C protEffect ACTA1:p.Val141Ala ACTA1:c.425T>C protEffect ACTA1:p.Leu142Pro ACTA1:c.430C>T protEffect ACTA1:p.Leu144Phe ACTA1:c.435C>G protEffect ACTA1:p.Tyr145Stop ACTA1:c.442G>A protEffect ACTA1:p.Gly148Ser ACTA1:c.443G>A protEffect ACTA1:p.Gly148Asp ACTA1:c.446G>A protEffect ACTA1:p.Arg149Lys ACTA1:c.449C>A protEffect ACTA1:p.Thr150Asn ACTA1:c.449C>G protEffect ACTA1:p.Thr150Ser ACTA1:c.44G>A protEffect ACTA1:p.Gly15Asp ACTA1:c.453C>A protEffect ACTA1:p.Thr151Thr ACTA1:c.455G>C protEffect ACTA1:p.Gly152Ala ACTA1:c.466G>A protEffect ACTA1:p.Asp156Asn ACTA1:c.478G>T protEffect ACTA1:p.Gly160Cys ACTA1:c.487C>G protEffect ACTA1:p.His163Asp ACTA1:c.487C>T protEffect ACTA1:p.His163Tyr ACTA1:c.493G>A protEffect ACTA1:p.Val165Met ACTA1:c.493G>C protEffect ACTA1:p.Val165Leu ACTA1:c.493G>T protEffect ACTA1:p.Val165Leu ACTA1:c.49G>C protEffect ACTA1:p.Gly17Arg ACTA1:c.515C>A protEffect ACTA1:p.Ala172Glu ACTA1:c.515C>G protEffect ACTA1:p.Ala172Gly ACTA1:c.539T>C protEffect ACTA1:p.Leu180Pro ACTA1:c.541G>A protEffect ACTA1:p.Asp181Asn ACTA1:c.541G>C protEffect ACTA1:p.Asp181His ACTA1:c.542A>G protEffect ACTA1:p.Asp181Gly ACTA1:c.547G>A protEffect ACTA1:p.Ala183Thr ACTA1:c.549G>A protEffect ACTA1:p.Ala183Ala ACTA1:c.551G>A protEffect ACTA1:p.Gly184Asp ACTA1:c.553C>A protEffect ACTA1:p.Arg185Ser ACTA1:c.553C>G protEffect ACTA1:p.Arg185Gly ACTA1:c.553C>T protEffect ACTA1:p.Arg185Cys ACTA1:c.554G>T protEffect ACTA1:p.Arg185Leu ACTA1:c.556G>C protEffect ACTA1:p.Asp186His ACTA1:c.557A>G protEffect ACTA1:p.Asp186Gly ACTA1:c.570C>A protEffect ACTA1:p.Tyr190Stop ACTA1:c.579G>T protEffect ACTA1:p.Lys193Asn ACTA1:c.586A>C protEffect ACTA1:p.Thr196Pro ACTA1:c.592C>A protEffect ACTA1:p.Arg198Ser ACTA1:c.592C>T protEffect ACTA1:p.Arg198Cys ACTA1:c.593G>A protEffect ACTA1:p.Arg198His ACTA1:c.593G>T protEffect ACTA1:p.Arg198Leu ACTA1:c.595G>A protEffect ACTA1:p.Gly199Ser ACTA1:c.599A>G protEffect ACTA1:p.Tyr200Cys ACTA1:c.616G>A protEffect ACTA1:p.Ala206Thr ACTA1:c.620A>G protEffect ACTA1:p.Glu207Gly ACTA1:c.621G>C protEffect ACTA1:p.Glu207Asp ACTA1:c.627G>C protEffect ACTA1:p.Glu209Asp ACTA1:c.649A>T protEffect ACTA1:p.Lys217Stop ACTA1:c.668T>C protEffect ACTA1:p.Leu223Pro ACTA1:c.676G>C protEffect ACTA1:p.Glu226Gln ACTA1:c.677A>G protEffect ACTA1:p.Glu226Gly ACTA1:c.682G>C protEffect ACTA1:p.Glu228Gln ACTA1:c.685A>G protEffect ACTA1:p.Met229Val ACTA1:c.686T>C protEffect ACTA1:p.Met229Thr ACTA1:c.687G>A protEffect ACTA1:p.Met229Ile ACTA1:c.687G>C protEffect ACTA1:p.Met229Ile ACTA1:c.687G>T protEffect ACTA1:p.Met229Ile ACTA1:c.695C>T protEffect ACTA1:p.Ala232Val ACTA1:c.715G>A protEffect ACTA1:p.Glu239Lys ACTA1:c.715G>T protEffect ACTA1:p.Glu239Stop ACTA1:c.727G>A protEffect ACTA1:p.Glu243Lys ACTA1:c.738C>A protEffect ACTA1:p.Asp246Glu ACTA1:c.739G>C protEffect ACTA1:p.Gly247Arg ACTA1:c.742C>A protEffect ACTA1:p.Gln248Lys ACTA1:c.743A>G protEffect ACTA1:p.Gln248Arg ACTA1:c.758G>A protEffect ACTA1:p.Gly253Asp ACTA1:c.760A>T protEffect ACTA1:p.Asn254Tyr ACTA1:c.764A>G protEffect ACTA1:p.Glu255Gly ACTA1:c.770T>G protEffect ACTA1:p.Phe257Cys ACTA1:c.773G>A protEffect ACTA1:p.Arg258His ACTA1:c.773G>T protEffect ACTA1:p.Arg258Leu ACTA1:c.782A>T protEffect ACTA1:p.Glu261Val ACTA1:c.794A>T protEffect ACTA1:p.Gln265Leu ACTA1:c.796C>A protEffect ACTA1:p.Pro266Thr ACTA1:c.79G>A protEffect ACTA1:p.Asp27Asn ACTA1:c.7G>T protEffect ACTA1:p.Asp3Tyr ACTA1:c.800C>G protEffect ACTA1:p.Ser267Cys ACTA1:c.802T>C protEffect ACTA1:p.Phe268Leu ACTA1:c.808G>A protEffect ACTA1:p.Gly270Ser ACTA1:c.808G>C protEffect ACTA1:p.Gly270Arg ACTA1:c.808G>T protEffect ACTA1:p.Gly270Cys ACTA1:c.809G>A protEffect ACTA1:p.Gly270Asp ACTA1:c.812T>G protEffect ACTA1:p.Met271Arg ACTA1:c.814G>C protEffect ACTA1:p.Glu272Gln ACTA1:c.821C>A protEffect ACTA1:p.Ala274Glu ACTA1:c.841T>C protEffect ACTA1:p.Tyr281His ACTA1:c.846C>G protEffect ACTA1:p.Asn282Lys ACTA1:c.854T>A protEffect ACTA1:p.Met285Lys ACTA1:c.854T>G protEffect ACTA1:p.Met285Arg ACTA1:c.863A>G protEffect ACTA1:p.Asp288Gly ACTA1:c.868G>A protEffect ACTA1:p.Asp290Asn ACTA1:c.871A>T protEffect ACTA1:p.Ile291Phe ACTA1:c.880G>T protEffect ACTA1:p.Asp294Tyr ACTA1:c.881A>T protEffect ACTA1:p.Asp294Val ACTA1:c.89G>A protEffect ACTA1:p.Arg30Lys ACTA1:c.902T>A protEffect ACTA1:p.Met301Lys ACTA1:c.984G>C protEffect ACTA1:p.Lys328Asn ACTA1:c.996C>A protEffect ACTA1:p.Ile332Ile CAPN3:c.1000C>T protEffect CAPN3:p.His334Tyr CAPN3:c.1001A>T protEffect CAPN3:p.His334Leu CAPN3:c.1002C>G protEffect CAPN3:p.His334Gln CAPN3:c.1006T>A protEffect CAPN3:p.Tyr336Asn CAPN3:c.1034C>T protEffect CAPN3:p.Pro345Leu CAPN3:c.1058T>C protEffect CAPN3:p.Leu353Pro CAPN3:c.1061T>C protEffect CAPN3:p.Val354Ala CAPN3:c.1061T>G protEffect CAPN3:p.Val354Gly CAPN3:c.1063C>G protEffect CAPN3:p.Arg355Gly CAPN3:c.1063C>T protEffect CAPN3:p.Arg355Trp CAPN3:c.1069C>T protEffect CAPN3:p.Arg357Trp CAPN3:c.1070G>A protEffect CAPN3:p.Arg357Gln CAPN3:c.1076C>T protEffect CAPN3:p.Pro359Leu CAPN3:c.1079G>A protEffect CAPN3:p.Trp360Stop CAPN3:c.1080G>C protEffect CAPN3:p.Trp360Cys CAPN3:c.1099G>A protEffect CAPN3:p.Gly367Ser CAPN3:c.10G>A protEffect CAPN3:p.Val4Ile CAPN3:c.1106G>A protEffect CAPN3:p.Trp369Stop CAPN3:c.1156C>T protEffect CAPN3:p.Arg386Cys CAPN3:c.1191C>G protEffect CAPN3:p.Phe397Leu CAPN3:c.1192T>C protEffect CAPN3:p.Trp398Arg CAPN3:c.1193G>C protEffect CAPN3:p.Trp398Ser CAPN3:c.1202A>G protEffect CAPN3:p.Tyr401Cys CAPN3:c.1250C>T protEffect CAPN3:p.Thr417Met CAPN3:c.1256A>G protEffect CAPN3:p.Asp419Gly CAPN3:c.1257T>G protEffect CAPN3:p.Asp419Glu CAPN3:c.1259C>A protEffect CAPN3:p.Ala420Asp CAPN3:c.1263G>A protEffect CAPN3:p.Leu421Leu CAPN3:c.1286G>A protEffect CAPN3:p.Trp429Stop CAPN3:c.1290A>G protEffect CAPN3:p.Thr430Thr CAPN3:c.1291G>A protEffect CAPN3:p.Val431Met CAPN3:c.1301A>T protEffect CAPN3:p.Asn434Ile CAPN3:c.1302C>T protEffect CAPN3:p.Asn434Asn CAPN3:c.1303G>A protEffect CAPN3:p.Glu435Lys CAPN3:c.1309C>G protEffect CAPN3:p.Arg437Gly CAPN3:c.1309C>T protEffect CAPN3:p.Arg437Cys CAPN3:c.1312T>C protEffect CAPN3:p.Trp438Arg CAPN3:c.1318C>T protEffect CAPN3:p.Arg440Trp CAPN3:c.1319G>A protEffect CAPN3:p.Arg440Gln CAPN3:c.1322G>A protEffect CAPN3:p.Gly441Asp CAPN3:c.1328C>T protEffect CAPN3:p.Ser443Phe CAPN3:c.1333G>A protEffect CAPN3:p.Gly445Arg CAPN3:c.1336G>A protEffect CAPN3:p.Gly446Ser CAPN3:c.1339T>C protEffect CAPN3:p.Cys447Arg CAPN3:c.133G>A protEffect CAPN3:p.Ala45Thr CAPN3:c.1342C>G protEffect CAPN3:p.Arg448Gly CAPN3:c.1342C>T protEffect CAPN3:p.Arg448Cys CAPN3:c.1343G>A protEffect CAPN3:p.Arg448His CAPN3:c.1345A>C protEffect CAPN3:p.Asn449His CAPN3:c.1354G>C protEffect CAPN3:p.Asp452His CAPN3:c.1361T>C protEffect CAPN3:p.Phe454Ser CAPN3:c.1381C>T protEffect CAPN3:p.Arg461Cys CAPN3:c.1385T>G protEffect CAPN3:p.Leu462Arg CAPN3:c.1435A>G protEffect CAPN3:p.Ser479Gly CAPN3:c.143G>A protEffect CAPN3:p.Ser48Asn CAPN3:c.1448C>A protEffect CAPN3:p.Ala483Asp CAPN3:c.1450C>A protEffect CAPN3:p.Leu484Met CAPN3:c.1456C>G protEffect CAPN3:p.Gln486Glu CAPN3:c.145C>T protEffect CAPN3:p.Arg49Cys CAPN3:c.1465C>T protEffect CAPN3:p.Arg489Trp CAPN3:c.1466G>A protEffect CAPN3:p.Arg489Gln CAPN3:c.1468C>T protEffect CAPN3:p.Arg490Trp CAPN3:c.1469G>A protEffect CAPN3:p.Arg490Gln CAPN3:c.146G>A protEffect CAPN3:p.Arg49His CAPN3:c.1477C>G protEffect CAPN3:p.Arg493Gly CAPN3:c.1477C>T protEffect CAPN3:p.Arg493Trp CAPN3:c.1486G>A protEffect CAPN3:p.Gly496Arg CAPN3:c.149A>G protEffect CAPN3:p.Asn50Ser CAPN3:c.1505T>C protEffect CAPN3:p.Ile502Thr CAPN3:c.1524G>A protEffect CAPN3:p.Glu508Glu CAPN3:c.1542C>T protEffect CAPN3:p.His514His CAPN3:c.1566G>A protEffect CAPN3:p.Lys522Lys CAPN3:c.1567G>A protEffect CAPN3:p.Asp523Asn CAPN3:c.1574T>C protEffect CAPN3:p.Phe525Ser CAPN3:c.1610A>G protEffect CAPN3:p.Tyr537Cys CAPN3:c.1611C>A protEffect CAPN3:p.Tyr537Stop CAPN3:c.1621C>T protEffect CAPN3:p.Arg541Trp CAPN3:c.1622G>A protEffect CAPN3:p.Arg541Gln CAPN3:c.163G>A protEffect CAPN3:p.Gly55Arg CAPN3:c.1641C>A protEffect CAPN3:p.Phe547Leu CAPN3:c.1657G>A protEffect CAPN3:p.Glu553Lys CAPN3:c.1662C>G protEffect CAPN3:p.Tyr554Stop CAPN3:c.1663G>A protEffect CAPN3:p.Val555Ile CAPN3:c.1667T>C protEffect CAPN3:p.Ile556Thr CAPN3:c.1668C>T protEffect CAPN3:p.Ile556Ile CAPN3:c.1694A>C protEffect CAPN3:p.Gln565Pro CAPN3:c.1699G>T protEffect CAPN3:p.Gly567Trp CAPN3:c.1706T>C protEffect CAPN3:p.Phe569Ser CAPN3:c.1714C>T protEffect CAPN3:p.Arg572Trp CAPN3:c.1715G>A protEffect CAPN3:p.Arg572Gln CAPN3:c.1715G>C protEffect CAPN3:p.Arg572Pro CAPN3:c.1742C>G protEffect CAPN3:p.Ser581Cys CAPN3:c.1817C>T protEffect CAPN3:p.Ser606Leu CAPN3:c.1823G>A protEffect CAPN3:p.Arg608Lys CAPN3:c.1826C>A protEffect CAPN3:p.Ala609Glu CAPN3:c.1855C>T protEffect CAPN3:p.Gln619Stop CAPN3:c.1865A>C protEffect CAPN3:p.Glu622Ala CAPN3:c.1872C>T protEffect CAPN3:p.Gly624Gly CAPN3:c.1897C>T protEffect CAPN3:p.Gln633Stop CAPN3:c.1913A>C protEffect CAPN3:p.Gln638Pro CAPN3:c.1939G>T protEffect CAPN3:p.Glu647Stop CAPN3:c.193C>G protEffect CAPN3:p.His65Asp CAPN3:c.1979A>G protEffect CAPN3:p.Gln660Arg CAPN3:c.1984G>T protEffect CAPN3:p.Ala662Ser CAPN3:c.2005T>A protEffect CAPN3:p.Cys669Ser CAPN3:c.2019C>G protEffect CAPN3:p.Leu673Leu CAPN3:c.206T>C protEffect CAPN3:p.Leu69Pro CAPN3:c.2077A>C protEffect CAPN3:p.Thr693Pro CAPN3:c.2092C>A protEffect CAPN3:p.Arg698Ser CAPN3:c.2092C>T protEffect CAPN3:p.Arg698Cys CAPN3:c.2093G>C protEffect CAPN3:p.Arg698Pro CAPN3:c.2105C>A protEffect CAPN3:p.Ala702Glu CAPN3:c.2105C>T protEffect CAPN3:p.Ala702Val CAPN3:c.2113G>C protEffect CAPN3:p.Asp705His CAPN3:c.2114A>G protEffect CAPN3:p.Asp705Gly CAPN3:c.2117C>A protEffect CAPN3:p.Thr706Lys CAPN3:c.2120A>G protEffect CAPN3:p.Asp707Gly CAPN3:c.2134C>T protEffect CAPN3:p.Leu712Phe CAPN3:c.2148G>T protEffect CAPN3:p.Glu716Asp CAPN3:c.2182C>T protEffect CAPN3:p.Gln728Stop CAPN3:c.2184G>A protEffect CAPN3:p.Gln728Gln CAPN3:c.2192T>C protEffect CAPN3:p.Phe731Ser CAPN3:c.2212C>T protEffect CAPN3:p.Gln738Stop CAPN3:c.2230A>G protEffect CAPN3:p.Ser744Gly CAPN3:c.2231G>C protEffect CAPN3:p.Ser744Thr CAPN3:c.2235C>G protEffect CAPN3:p.Tyr745Stop CAPN3:c.2235C>T protEffect CAPN3:p.Tyr745Tyr CAPN3:c.2242C>T protEffect CAPN3:p.Arg748Stop CAPN3:c.2243G>A protEffect CAPN3:p.Arg748Gln CAPN3:c.2245A>C protEffect CAPN3:p.Asn749His CAPN3:c.224A>G protEffect CAPN3:p.Tyr75Cys CAPN3:c.2257G>A protEffect CAPN3:p.Asp753Asn CAPN3:c.2269C>G protEffect CAPN3:p.His757Asp CAPN3:c.2288A>G protEffect CAPN3:p.Tyr763Cys CAPN3:c.2292C>T protEffect CAPN3:p.Asp764Asp CAPN3:c.229G>A protEffect CAPN3:p.Asp77Asn CAPN3:c.2306G>A protEffect CAPN3:p.Arg769Gln CAPN3:c.2306G>C protEffect CAPN3:p.Arg769Pro CAPN3:c.2320C>G protEffect CAPN3:p.His774Asp CAPN3:c.232C>A protEffect CAPN3:p.Pro78Thr CAPN3:c.2330T>C protEffect CAPN3:p.Ile777Thr CAPN3:c.2332G>A protEffect CAPN3:p.Asp778Asn CAPN3:c.2335T>A protEffect CAPN3:p.Phe779Ile CAPN3:c.2338G>C protEffect CAPN3:p.Asp780His CAPN3:c.2371G>A protEffect CAPN3:p.Gly791Ser CAPN3:c.2371G>T protEffect CAPN3:p.Gly791Cys CAPN3:c.2376G>A protEffect CAPN3:p.Met792Ile CAPN3:c.2390A>C protEffect CAPN3:p.His797Pro CAPN3:c.2393C>A protEffect CAPN3:p.Ala798Glu CAPN3:c.240C>G protEffect CAPN3:p.Phe80Leu CAPN3:c.2420T>C protEffect CAPN3:p.Ile807Thr CAPN3:c.2433T>C protEffect CAPN3:p.Val811Val CAPN3:c.2442G>A protEffect CAPN3:p.Trp814Stop CAPN3:c.245C>T protEffect CAPN3:p.Pro82Leu CAPN3:c.2464T>C protEffect CAPN3:p.Stop822Arg CAPN3:c.246G>A protEffect CAPN3:p.Pro82Pro CAPN3:c.257C>T protEffect CAPN3:p.Ser86Phe CAPN3:c.259C>G protEffect CAPN3:p.Leu87Val CAPN3:c.291C>A protEffect CAPN3:p.Phe97Leu CAPN3:c.292G>A protEffect CAPN3:p.Val98Ile CAPN3:c.302G>A protEffect CAPN3:p.Arg101Lys CAPN3:c.304C>T protEffect CAPN3:p.Pro102Ser CAPN3:c.308C>T protEffect CAPN3:p.Pro103Leu CAPN3:c.309G>A protEffect CAPN3:p.Pro103Pro CAPN3:c.318C>T protEffect CAPN3:p.Cys106Cys CAPN3:c.319G>A protEffect CAPN3:p.Glu107Lys CAPN3:c.328C>T protEffect CAPN3:p.Arg110Stop CAPN3:c.332T>C protEffect CAPN3:p.Phe111Ser CAPN3:c.352A>G protEffect CAPN3:p.Arg118Gly CAPN3:c.358G>A protEffect CAPN3:p.Asp120Asn CAPN3:c.363C>G protEffect CAPN3:p.Ile121Met CAPN3:c.389G>C protEffect CAPN3:p.Trp130Ser CAPN3:c.390G>C protEffect CAPN3:p.Trp130Cys CAPN3:c.398C>T protEffect CAPN3:p.Ala133Val CAPN3:c.399A>G protEffect CAPN3:p.Ala133Ala CAPN3:c.409T>C protEffect CAPN3:p.Cys137Arg CAPN3:c.413T>C protEffect CAPN3:p.Leu138Pro CAPN3:c.416C>T protEffect CAPN3:p.Thr139Ile CAPN3:c.424C>T protEffect CAPN3:p.Gln142Stop CAPN3:c.440G>A protEffect CAPN3:p.Arg147Gln CAPN3:c.440G>C protEffect CAPN3:p.Arg147Pro CAPN3:c.477C>T protEffect CAPN3:p.Tyr159Tyr CAPN3:c.478G>C protEffect CAPN3:p.Ala160Pro CAPN3:c.479C>A protEffect CAPN3:p.Ala160Glu CAPN3:c.479C>G protEffect CAPN3:p.Ala160Gly CAPN3:c.484A>C protEffect CAPN3:p.Ile162Leu CAPN3:c.495C>G protEffect CAPN3:p.Phe165Leu CAPN3:c.495C>T protEffect CAPN3:p.Phe165Phe CAPN3:c.498G>A protEffect CAPN3:p.Gln166Gln CAPN3:c.502T>C protEffect CAPN3:p.Trp168Arg CAPN3:c.505C>G protEffect CAPN3:p.Arg169Gly CAPN3:c.505C>T protEffect CAPN3:p.Arg169Cys CAPN3:c.506G>A protEffect CAPN3:p.Arg169His CAPN3:c.509A>G protEffect CAPN3:p.Tyr170Cys CAPN3:c.510T>G protEffect CAPN3:p.Tyr170Stop CAPN3:c.527T>C protEffect CAPN3:p.Val176Ala CAPN3:c.533T>C protEffect CAPN3:p.Ile178Thr CAPN3:c.535G>C protEffect CAPN3:p.Asp179His CAPN3:c.539A>C protEffect CAPN3:p.Asp180Ala CAPN3:c.545T>A protEffect CAPN3:p.Leu182Gln CAPN3:c.548C>G protEffect CAPN3:p.Pro183Arg CAPN3:c.548C>T protEffect CAPN3:p.Pro183Leu CAPN3:c.551C>T protEffect CAPN3:p.Thr184Met CAPN3:c.565C>G protEffect CAPN3:p.Leu189Val CAPN3:c.566T>C protEffect CAPN3:p.Leu189Pro CAPN3:c.575C>T protEffect CAPN3:p.Thr192Ile CAPN3:c.581C>G protEffect CAPN3:p.Ser194Cys CAPN3:c.590G>A protEffect CAPN3:p.Arg197His CAPN3:c.590G>T protEffect CAPN3:p.Arg197Leu CAPN3:c.593A>G protEffect CAPN3:p.Asn198Ser CAPN3:c.595G>C protEffect CAPN3:p.Glu199Gln CAPN3:c.601T>A protEffect CAPN3:p.Trp201Arg CAPN3:c.606T>C protEffect CAPN3:p.Ser202Ser CAPN3:c.610C>G protEffect CAPN3:p.Leu204Val CAPN3:c.616G>A protEffect CAPN3:p.Glu206Lys CAPN3:c.620A>C protEffect CAPN3:p.Lys207Thr CAPN3:c.62G>A protEffect CAPN3:p.Gly21Glu CAPN3:c.631A>G protEffect CAPN3:p.Lys211Glu CAPN3:c.633G>C protEffect CAPN3:p.Lys211Asn CAPN3:c.633G>T protEffect CAPN3:p.Lys211Asn CAPN3:c.637C>T protEffect CAPN3:p.His213Tyr CAPN3:c.638A>G protEffect CAPN3:p.His213Arg CAPN3:c.640G>A protEffect CAPN3:p.Gly214Ser CAPN3:c.643T>C protEffect CAPN3:p.Ser215Pro CAPN3:c.649G>A protEffect CAPN3:p.Glu217Lys CAPN3:c.662G>T protEffect CAPN3:p.Gly221Val CAPN3:c.664G>A protEffect CAPN3:p.Gly222Arg CAPN3:c.674C>G protEffect CAPN3:p.Thr225Arg CAPN3:c.676G>A protEffect CAPN3:p.Glu226Lys CAPN3:c.689A>G protEffect CAPN3:p.Asp230Gly CAPN3:c.695C>T protEffect CAPN3:p.Thr232Ile CAPN3:c.697G>C protEffect CAPN3:p.Gly233Arg CAPN3:c.698G>T protEffect CAPN3:p.Gly233Val CAPN3:c.701G>A protEffect CAPN3:p.Gly234Glu CAPN3:c.706G>A protEffect CAPN3:p.Ala236Thr CAPN3:c.739G>A protEffect CAPN3:p.Asp247Asn CAPN3:c.743T>G protEffect CAPN3:p.Met248Arg CAPN3:c.747C>G protEffect CAPN3:p.Tyr249Stop CAPN3:c.755T>A protEffect CAPN3:p.Met252Lys CAPN3:c.755T>C protEffect CAPN3:p.Met252Thr CAPN3:c.755T>G protEffect CAPN3:p.Met252Arg CAPN3:c.760A>G protEffect CAPN3:p.Lys254Glu CAPN3:c.763G>C protEffect CAPN3:p.Ala255Pro CAPN3:c.769G>T protEffect CAPN3:p.Glu257Stop CAPN3:c.779C>T protEffect CAPN3:p.Ser260Phe CAPN3:c.77C>T protEffect CAPN3:p.Pro26Leu CAPN3:c.788G>A protEffect CAPN3:p.Gly263Asp CAPN3:c.791G>A protEffect CAPN3:p.Cys264Tyr CAPN3:c.798T>C protEffect CAPN3:p.Ile266Ile CAPN3:c.817A>G protEffect CAPN3:p.Thr273Ala CAPN3:c.822T>G protEffect CAPN3:p.Tyr274Stop CAPN3:c.847A>G protEffect CAPN3:p.Met283Val CAPN3:c.848T>C protEffect CAPN3:p.Met283Thr CAPN3:c.865C>T protEffect CAPN3:p.Arg289Trp CAPN3:c.898C>T protEffect CAPN3:p.Gln300Stop CAPN3:c.8C>A protEffect CAPN3:p.Thr3Asn CAPN3:c.956C>T protEffect CAPN3:p.Pro319Leu CAPN3:c.958G>T protEffect CAPN3:p.Val320Phe CAPN3:c.964T>C protEffect CAPN3:p.Tyr322His CAPN3:c.966T>A protEffect CAPN3:p.Tyr322Stop CAPN3:c.967G>T protEffect CAPN3:p.Glu323Stop CAPN3:c.96T>C protEffect CAPN3:p.Thr32Thr CAPN3:c.984C>A protEffect CAPN3:p.Cys328Stop CAPN3:c.984C>T protEffect CAPN3:p.Cys328Cys CAPN3:c.985G>A protEffect CAPN3:p.Gly329Arg CAPN3:c.998G>A protEffect CAPN3:p.Gly333Asp CAPN3:c.9C>T protEffect CAPN3:p.Thr3Thr CAV3:c.100G>A protEffect CAV3:p.Glu34Lys CAV3:c.123T>C protEffect CAV3:p.Phe41Phe CAV3:c.131T>A protEffect CAV3:p.Val44Glu CAV3:c.136G>A protEffect CAV3:p.Ala46Thr CAV3:c.136G>T protEffect CAV3:p.Ala46Ser CAV3:c.137C>A protEffect CAV3:p.Ala46Glu CAV3:c.137C>T protEffect CAV3:p.Ala46Val CAV3:c.139G>A protEffect CAV3:p.Glu47Lys CAV3:c.140A>C protEffect CAV3:p.Glu47Ala CAV3:c.141G>T protEffect CAV3:p.Glu47Asp CAV3:c.157A>G protEffect CAV3:p.Ser53Gly CAV3:c.158G>A protEffect CAV3:p.Ser53Asn CAV3:c.166G>A protEffect CAV3:p.Gly56Ser CAV3:c.168C>A protEffect CAV3:p.Gly56Gly CAV3:c.169G>A protEffect CAV3:p.Val57Met CAV3:c.170T>G protEffect CAV3:p.Val57Gly CAV3:c.171G>A protEffect CAV3:p.Val57Val CAV3:c.172T>C protEffect CAV3:p.Trp58Arg CAV3:c.183C>A protEffect CAV3:p.Ser61Arg CAV3:c.190A>C protEffect CAV3:p.Thr64Pro CAV3:c.191C>G protEffect CAV3:p.Thr64Ser CAV3:c.204C>A protEffect CAV3:p.Ser68Ser CAV3:c.212G>A protEffect CAV3:p.Trp71Stop CAV3:c.216C>G protEffect CAV3:p.Cys72Trp CAV3:c.218A>G protEffect CAV3:p.Tyr73Cys CAV3:c.233C>T protEffect CAV3:p.Thr78Met CAV3:c.236T>G protEffect CAV3:p.Leu79Arg CAV3:c.253G>A protEffect CAV3:p.Ala85Thr CAV3:c.260T>C protEffect CAV3:p.Leu87Pro CAV3:c.277G>A protEffect CAV3:p.Ala93Thr CAV3:c.27C>T protEffect CAV3:p.Leu9Leu CAV3:c.290T>G protEffect CAV3:p.Phe97Cys CAV3:c.298A>T protEffect CAV3:p.Ile100Phe CAV3:c.301T>C protEffect CAV3:p.Trp101Arg CAV3:c.314C>T protEffect CAV3:p.Pro105Leu CAV3:c.377G>A protEffect CAV3:p.Arg126His CAV3:c.40G>C protEffect CAV3:p.Val14Leu CAV3:c.423C>G protEffect CAV3:p.Ser141Arg CAV3:c.79C>G protEffect CAV3:p.Arg27Gly CAV3:c.80G>A protEffect CAV3:p.Arg27Gln CAV3:c.80G>C protEffect CAV3:p.Arg27Pro CAV3:c.84C>A protEffect CAV3:p.Asp28Glu CAV3:c.85C>A protEffect CAV3:p.Pro29Thr CAV3:c.86C>T protEffect CAV3:p.Pro29Leu CAV3:c.99C>G protEffect CAV3:p.Asn33Lys CAV3:c.99C>T protEffect CAV3:p.Asn33Asn CFL2:c.103G>A protEffect CFL2:p.Ala35Thr COL6A1:c.1022G>A protEffect COL6A1:p.Gly341Asp COL6A1:c.1022G>T protEffect COL6A1:p.Gly341Val COL6A1:c.1095T>C protEffect COL6A1:p.Gly365Gly COL6A1:c.1184G>T protEffect COL6A1:p.Gly395Val COL6A1:c.1712A>C protEffect COL6A1:p.Lys571Thr COL6A1:c.1977C>G protEffect COL6A1:p.Tyr659Stop COL6A1:c.2045G>A protEffect COL6A1:p.Arg682Gln COL6A1:c.235C>T protEffect COL6A1:p.Arg79Cys COL6A1:c.2424G>T protEffect COL6A1:p.Gln808His COL6A1:c.2512G>A protEffect COL6A1:p.Ala838Thr COL6A1:c.2549G>A protEffect COL6A1:p.Arg850His COL6A1:c.2667G>A protEffect COL6A1:p.Ala889Ala COL6A1:c.2669C>T protEffect COL6A1:p.Ser890Leu COL6A1:c.2670G>A protEffect COL6A1:p.Ser890Ser COL6A1:c.2796C>T protEffect COL6A1:p.Ser932Ser COL6A1:c.347G>A protEffect COL6A1:p.Ser116Asn COL6A1:c.362A>G protEffect COL6A1:p.Lys121Arg COL6A1:c.805G>A protEffect COL6A1:p.Gly269Arg COL6A1:c.815G>A protEffect COL6A1:p.Gly272Asp COL6A1:c.821C>T protEffect COL6A1:p.Pro274Leu COL6A1:c.823G>A protEffect COL6A1:p.Gly275Arg COL6A1:c.841G>A protEffect COL6A1:p.Gly281Arg COL6A1:c.842G>A protEffect COL6A1:p.Gly281Glu COL6A1:c.850G>A protEffect COL6A1:p.Gly284Arg COL6A1:c.860G>A protEffect COL6A1:p.Gly287Glu COL6A1:c.868G>A protEffect COL6A1:p.Gly290Arg COL6A1:c.868G>C protEffect COL6A1:p.Gly290Arg COL6A1:c.869G>A protEffect COL6A1:p.Gly290Glu COL6A1:c.914G>T protEffect COL6A1:p.Gly305Val COL6A2:c.1353G>C protEffect COL6A2:p.Gly451Gly COL6A2:c.1493G>A protEffect COL6A2:p.Arg498His COL6A2:c.1552C>T protEffect COL6A2:p.Pro518Ser COL6A2:c.1591G>C protEffect COL6A2:p.Gly531Arg COL6A2:c.1861G>A protEffect COL6A2:p.Asp621Asn COL6A2:c.2039G>A protEffect COL6A2:p.Arg680His COL6A2:c.2094G>A protEffect COL6A2:p.Ala698Ala COL6A2:c.2097C>T protEffect COL6A2:p.Gly699Gly COL6A2:c.2098G>A protEffect COL6A2:p.Gly700Ser COL6A2:c.2184G>A protEffect COL6A2:p.Val728Val COL6A2:c.2319C>G protEffect COL6A2:p.Tyr773Stop COL6A2:c.2329T>C protEffect COL6A2:p.Cys777Arg COL6A2:c.2351G>A protEffect COL6A2:p.Arg784His COL6A2:c.2386A>T protEffect COL6A2:p.Lys796Stop COL6A2:c.2510T>C protEffect COL6A2:p.Leu837Pro COL6A2:c.2558G>A protEffect COL6A2:p.Arg853Gln COL6A2:c.2626C>A protEffect COL6A2:p.Arg876Ser COL6A2:c.2683A>C protEffect COL6A2:p.Ser895Arg COL6A2:c.2697G>T protEffect COL6A2:p.Thr899Thr COL6A2:c.2724A>G protEffect COL6A2:p.Thr908Thr COL6A2:c.2795C>T protEffect COL6A2:p.Pro932Leu COL6A2:c.2979C>T protEffect COL6A2:p.Arg993Arg COL6A2:c.679G>A protEffect COL6A2:p.Asp227Asn COL6A2:c.777C>G protEffect COL6A2:p.Gly259Gly COL6A2:c.802G>A protEffect COL6A2:p.Gly268Ser COL6A2:c.802G>T protEffect COL6A2:p.Gly268Cys COL6A2:c.811G>A protEffect COL6A2:p.Gly271Ser COL6A2:c.847G>A protEffect COL6A2:p.Gly283Arg COL6A2:c.901G>A protEffect COL6A2:p.Gly301Ser COL6A3:c.1389C>T protEffect COL6A3:p.Ala463Ala COL6A3:c.1393C>T protEffect COL6A3:p.Arg465Stop COL6A3:c.2030G>A protEffect COL6A3:p.Arg677His COL6A3:c.3040A>G protEffect COL6A3:p.Lys1014Glu COL6A3:c.3129C>T protEffect COL6A3:p.Gly1043Gly COL6A3:c.3191G>A protEffect COL6A3:p.Arg1064Gln COL6A3:c.4156G>A protEffect COL6A3:p.Glu1386Lys COL6A3:c.4184G>A protEffect COL6A3:p.Arg1395Gln COL6A3:c.4217C>T protEffect COL6A3:p.Thr1406Met COL6A3:c.4311T>C protEffect COL6A3:p.Ile1437Ile COL6A3:c.4533G>T protEffect COL6A3:p.Gly1511Gly COL6A3:c.4727G>A protEffect COL6A3:p.Arg1576Gln COL6A3:c.5020G>A protEffect COL6A3:p.Asp1674Asn COL6A3:c.5036G>A protEffect COL6A3:p.Gly1679Glu COL6A3:c.5177T>G protEffect COL6A3:p.Leu1726Arg COL6A3:c.5953G>A protEffect COL6A3:p.Val1985Met COL6A3:c.6140G>A protEffect COL6A3:p.Gly2047Asp COL6A3:c.6166G>A protEffect COL6A3:p.Gly2056Arg COL6A3:c.6185G>A protEffect COL6A3:p.Gly2062Asp COL6A3:c.6239G>A protEffect COL6A3:p.Gly2080Asp COL6A3:c.6247G>T protEffect COL6A3:p.Gly2083Cys COL6A3:c.6369G>A protEffect COL6A3:p.Leu2123Leu COL6A3:c.6816G>A protEffect COL6A3:p.Lys2272Lys COL6A3:c.6855G>C protEffect COL6A3:p.Gly2285Gly COL6A3:c.6945C>T protEffect COL6A3:p.Phe2315Phe COL6A3:c.7024C>T protEffect COL6A3:p.Arg2342Stop COL6A3:c.7292A>T protEffect COL6A3:p.Asp2431Val COL6A3:c.7357G>A protEffect COL6A3:p.Glu2453Lys COL6A3:c.7509G>A protEffect COL6A3:p.Arg2503Arg COL6A3:c.7596G>A protEffect COL6A3:p.Lys2532Lys COL6A3:c.7842C>T protEffect COL6A3:p.Ser2614Ser COL6A3:c.7929G>A protEffect COL6A3:p.Ala2643Ala COL6A3:c.7980C>T protEffect COL6A3:p.His2660His COL6A3:c.8451A>G protEffect COL6A3:p.Pro2817Pro COL6A3:c.8491G>C protEffect COL6A3:p.Asp2831His COL6A3:c.8780T>C protEffect COL6A3:p.Met2927Thr COL6A3:c.8820G>A protEffect COL6A3:p.Thr2940Thr COL6A3:c.8822C>T protEffect COL6A3:p.Ala2941Val COL6A3:c.8962A>G protEffect COL6A3:p.Met2988Val COL6A3:c.9034G>C protEffect COL6A3:p.Ala3012Pro COL6A3:c.9206C>T protEffect COL6A3:p.Thr3069Ile COL6A3:c.9213C>T protEffect COL6A3:p.His3071His DAG1:c.1773C>T protEffect DAG1:p.Phe591Phe DAG1:c.2256C>T protEffect DAG1:p.His752His DAG1:c.41G>C protEffect DAG1:p.Trp14Ser DAG1:c.575C>T protEffect DAG1:p.Thr192Met DES:c.1009G>C protEffect DES:p.Ala337Pro DES:c.1013T>G protEffect DES:p.Leu338Arg DES:c.1014G>C protEffect DES:p.Leu338Leu DES:c.1024A>G protEffect DES:p.Asn342Asp DES:c.1034T>C protEffect DES:p.Leu345Pro DES:c.1048C>T protEffect DES:p.Arg350Trp DES:c.1049G>C protEffect DES:p.Arg350Pro DES:c.1064G>C protEffect DES:p.Arg355Pro DES:c.1069G>C protEffect DES:p.Ala357Pro DES:c.1078G>C protEffect DES:p.Ala360Pro DES:c.1099A>T protEffect DES:p.Ile367Phe DES:c.1104G>A protEffect DES:p.Ala368Ala DES:c.1109T>C protEffect DES:p.Leu370Pro DES:c.1154T>C protEffect DES:p.Leu385Pro DES:c.1166A>C protEffect DES:p.Gln389Pro DES:c.1175T>C protEffect DES:p.Leu392Pro DES:c.1178A>T protEffect DES:p.Asn393Ile DES:c.1195G>T protEffect DES:p.Asp399Tyr DES:c.1201G>A protEffect DES:p.Glu401Lys DES:c.1216C>T protEffect DES:p.Arg406Trp DES:c.1222C>T protEffect DES:p.Leu408Leu DES:c.1237G>A protEffect DES:p.Glu413Lys DES:c.1255C>T protEffect DES:p.Pro419Ser DES:c.1325C>T protEffect DES:p.Thr442Ile DES:c.1346A>C protEffect DES:p.Lys449Thr DES:c.1346A>T protEffect DES:p.Lys449Met DES:c.1353C>G protEffect DES:p.Ile451Met DES:c.1358C>T protEffect DES:p.Thr453Ile DES:c.1360C>T protEffect DES:p.Arg454Trp DES:c.1375G>A protEffect DES:p.Val459Ile DES:c.1379G>T protEffect DES:p.Ser460Ile DES:c.137C>A protEffect DES:p.Ser46Tyr DES:c.137C>T protEffect DES:p.Ser46Phe DES:c.1405G>A protEffect DES:p.Val469Met DES:c.322G>A protEffect DES:p.Glu108Lys DES:c.38C>T protEffect DES:p.Ser13Phe DES:c.408C>T protEffect DES:p.Leu136Leu DES:c.46C>T protEffect DES:p.Arg16Cys DES:c.5G>T protEffect DES:p.Ser2Ile DES:c.638C>T protEffect DES:p.Ala213Val DES:c.641A>T protEffect DES:p.Asp214Val DES:c.735G>C protEffect DES:p.Glu245Asp DES:c.828C>T protEffect DES:p.Asp276Asp DES:c.893C>T protEffect DES:p.Ser298Leu DES:c.934G>A protEffect DES:p.Asp312Asn DMD:c.10002T>G protEffect DMD:p.Tyr3334Stop DMD:c.10003G>A protEffect DMD:p.Asp3335Asn DMD:c.10003G>C protEffect DMD:p.Asp3335His DMD:c.10003G>T protEffect DMD:p.Asp3335Tyr DMD:c.10009T>C protEffect DMD:p.Cys3337Arg DMD:c.10012C>T protEffect DMD:p.Gln3338Stop DMD:c.10018T>C protEffect DMD:p.Cys3340Arg DMD:c.10019G>A protEffect DMD:p.Cys3340Tyr DMD:c.10033C>T protEffect DMD:p.Arg3345Stop DMD:c.1005G>A protEffect DMD:p.Met335Ile DMD:c.1006G>T protEffect DMD:p.Glu336Stop DMD:c.10072G>T protEffect DMD:p.Glu3358Stop DMD:c.10077T>A protEffect DMD:p.Tyr3359Stop DMD:c.10094C>G protEffect DMD:p.Ser3365Stop DMD:c.10102G>C protEffect DMD:p.Asp3368His DMD:c.10103A>G protEffect DMD:p.Asp3368Gly DMD:c.10108C>T protEffect DMD:p.Arg3370Stop DMD:c.1012G>T protEffect DMD:p.Glu338Stop DMD:c.10135A>T protEffect DMD:p.Lys3379Stop DMD:c.10141C>T protEffect DMD:p.Arg3381Stop DMD:c.10149A>C protEffect DMD:p.Lys3383Asn DMD:c.10171C>T protEffect DMD:p.Arg3391Stop DMD:c.10186C>T protEffect DMD:p.Pro3396Ser DMD:c.10202T>G protEffect DMD:p.Leu3401Stop DMD:c.10262C>T protEffect DMD:p.Ala3421Val DMD:c.10279C>T protEffect DMD:p.Gln3427Stop DMD:c.10304C>A protEffect DMD:p.Ser3435Stop DMD:c.10362T>A protEffect DMD:p.Tyr3454Stop DMD:c.10387G>T protEffect DMD:p.Glu3463Stop DMD:c.103C>T protEffect DMD:p.Gln35Stop DMD:c.10412T>A protEffect DMD:p.Leu3471Stop DMD:c.1045G>T protEffect DMD:p.Glu349Stop DMD:c.10477C>T protEffect DMD:p.Gln3493Stop DMD:c.10504G>T protEffect DMD:p.Glu3502Stop DMD:c.10543G>T protEffect DMD:p.Glu3515Stop DMD:c.1055T>G protEffect DMD:p.Leu352Stop DMD:c.10561C>A protEffect DMD:p.Gln3521Lys DMD:c.10572T>A protEffect DMD:p.Tyr3524Stop DMD:c.1057T>C protEffect DMD:p.Ser353Pro DMD:c.10588C>T protEffect DMD:p.Gln3530Stop DMD:c.1061G>A protEffect DMD:p.Trp354Stop DMD:c.10620G>A protEffect DMD:p.Pro3540Pro DMD:c.1062G>A protEffect DMD:p.Trp354Stop DMD:c.10765C>T protEffect DMD:p.Gln3589Stop DMD:c.10769T>A protEffect DMD:p.Leu3590Stop DMD:c.10783C>T protEffect DMD:p.Gln3595Stop DMD:c.10789C>T protEffect DMD:p.Leu3597Leu DMD:c.10801C>T protEffect DMD:p.Gln3601Stop DMD:c.10873C>T protEffect DMD:p.Gln3625Stop DMD:c.1087C>T protEffect DMD:p.Gln363Stop DMD:c.10888C>T protEffect DMD:p.Arg3630Stop DMD:c.10903C>T protEffect DMD:p.Gln3635Stop DMD:c.10910C>A protEffect DMD:p.Ser3637Stop DMD:c.1093C>T protEffect DMD:p.Gln365Stop DMD:c.1095A>C protEffect DMD:p.Gln365His DMD:c.10969G>T protEffect DMD:p.Glu3657Stop DMD:c.1098A>T protEffect DMD:p.Gly366Gly DMD:c.11018G>A protEffect DMD:p.Arg3673Lys DMD:c.1117G>T protEffect DMD:p.Glu373Stop DMD:c.1132C>T protEffect DMD:p.Gln378Stop DMD:c.1177C>T protEffect DMD:p.Gln393Stop DMD:c.11G>A protEffect DMD:p.Trp4Stop DMD:c.1225A>T protEffect DMD:p.Thr409Ser DMD:c.1238C>A protEffect DMD:p.Ser413Stop DMD:c.1255G>T protEffect DMD:p.Glu419Stop DMD:c.1261C>T protEffect DMD:p.Gln421Stop DMD:c.1267C>T protEffect DMD:p.Gln423Stop DMD:c.1286C>A protEffect DMD:p.Ser429Stop DMD:c.1286C>G protEffect DMD:p.Ser429Stop DMD:c.1292G>A protEffect DMD:p.Trp431Stop DMD:c.1293G>A protEffect DMD:p.Trp431Stop DMD:c.1310C>G protEffect DMD:p.Ala437Gly DMD:c.131T>G protEffect DMD:p.Leu44Arg DMD:c.1324C>T protEffect DMD:p.Gln442Stop DMD:c.1334T>G protEffect DMD:p.Leu445Stop DMD:c.1337A>G protEffect DMD:p.His446Arg DMD:c.133C>T protEffect DMD:p.Gln45Stop DMD:c.1357C>T protEffect DMD:p.Gln453Stop DMD:c.136G>T protEffect DMD:p.Asp46Tyr DMD:c.137A>T protEffect DMD:p.Asp46Val DMD:c.1388G>A protEffect DMD:p.Trp463Stop DMD:c.1426G>T protEffect DMD:p.Glu476Stop DMD:c.1429G>T protEffect DMD:p.Glu477Stop DMD:c.1438G>T protEffect DMD:p.Gly480Stop DMD:c.1465C>T protEffect DMD:p.Gln489Stop DMD:c.1471C>T protEffect DMD:p.Gln491Stop DMD:c.1474C>T protEffect DMD:p.Gln492Stop DMD:c.1489C>T protEffect DMD:p.Gln497Stop DMD:c.1512A>T protEffect DMD:p.Gln504His DMD:c.1513G>C protEffect DMD:p.Val505Leu DMD:c.1513G>T protEffect DMD:p.Val505Phe DMD:c.1554T>A protEffect DMD:p.Asp518Glu DMD:c.1555G>T protEffect DMD:p.Glu519Stop DMD:c.1580C>A protEffect DMD:p.Ala527Asp DMD:c.1594C>T protEffect DMD:p.Gln532Stop DMD:c.1602G>T protEffect DMD:p.Lys534Asn DMD:c.1609G>T protEffect DMD:p.Gly537Stop DMD:c.1615C>T protEffect DMD:p.Arg539Stop DMD:c.1616G>A protEffect DMD:p.Arg539Gln DMD:c.1619G>A protEffect DMD:p.Trp540Stop DMD:c.161T>G protEffect DMD:p.Leu54Arg DMD:c.1633A>T protEffect DMD:p.Arg545Stop DMD:c.1635A>G protEffect DMD:p.Arg545Arg DMD:c.1637G>A protEffect DMD:p.Trp546Stop DMD:c.1642G>T protEffect DMD:p.Glu548Stop DMD:c.1663C>T protEffect DMD:p.Gln555Stop DMD:c.1674T>G protEffect DMD:p.Leu558Leu DMD:c.1682G>A protEffect DMD:p.Trp561Stop DMD:c.1683G>A protEffect DMD:p.Trp561Stop DMD:c.1684C>T protEffect DMD:p.Gln562Stop DMD:c.1692T>C protEffect DMD:p.Leu564Leu DMD:c.1699G>T protEffect DMD:p.Glu567Stop DMD:c.1702C>T protEffect DMD:p.Gln568Stop DMD:c.1718C>T protEffect DMD:p.Ala573Val DMD:c.1721G>A protEffect DMD:p.Trp574Stop DMD:c.1724T>C protEffect DMD:p.Leu575Pro DMD:c.1727C>A protEffect DMD:p.Ser576Stop DMD:c.1783G>T protEffect DMD:p.Glu595Stop DMD:c.178C>T protEffect DMD:p.Gln60Stop DMD:c.1793C>G protEffect DMD:p.Ser598Stop DMD:c.1817T>G protEffect DMD:p.Leu606Stop DMD:c.1843C>T protEffect DMD:p.Gln615Stop DMD:c.1865C>G protEffect DMD:p.Ser622Stop DMD:c.1869C>T protEffect DMD:p.Leu623Leu DMD:c.1873C>T protEffect DMD:p.Gln625Stop DMD:c.1888A>G protEffect DMD:p.Thr630Ala DMD:c.1928G>A protEffect DMD:p.Trp643Stop DMD:c.1934A>G protEffect DMD:p.Asp645Gly DMD:c.193G>T protEffect DMD:p.Glu65Stop DMD:c.1952G>A protEffect DMD:p.Trp651Stop DMD:c.1961T>A protEffect DMD:p.Leu654Stop DMD:c.1961T>G protEffect DMD:p.Leu654Stop DMD:c.1966C>T protEffect DMD:p.Gln656Stop DMD:c.1973T>C protEffect DMD:p.Leu658Pro DMD:c.1975G>T protEffect DMD:p.Glu659Stop DMD:c.1990C>T protEffect DMD:p.Gln664Stop DMD:c.1999C>T protEffect DMD:p.Gln667Stop DMD:c.199G>T protEffect DMD:p.Gly67Stop DMD:c.2017C>T protEffect DMD:p.Gln673Stop DMD:c.2032C>T protEffect DMD:p.Gln678Stop DMD:c.2047G>T protEffect DMD:p.Glu683Stop DMD:c.2060C>T protEffect DMD:p.Thr687Met DMD:c.2077C>T protEffect DMD:p.Gln693Stop DMD:c.2089A>T protEffect DMD:p.Lys697Stop DMD:c.2098C>T protEffect DMD:p.Gln700Stop DMD:c.2104G>T protEffect DMD:p.Glu702Stop DMD:c.2125C>T protEffect DMD:p.Gln709Stop DMD:c.2128A>T protEffect DMD:p.Lys710Stop DMD:c.2137C>T protEffect DMD:p.Gln713Stop DMD:c.2143A>T protEffect DMD:p.Thr715Ser DMD:c.2176G>T protEffect DMD:p.Val726Phe DMD:c.2227C>T protEffect DMD:p.Gln743Stop DMD:c.2236G>T protEffect DMD:p.Glu746Stop DMD:c.2257G>T protEffect DMD:p.Glu753Stop DMD:c.2270C>G protEffect DMD:p.Ser757Stop DMD:c.2281G>T protEffect DMD:p.Glu761Stop DMD:c.2291A>G protEffect DMD:p.Asn764Ser DMD:c.2299G>T protEffect DMD:p.Glu767Stop DMD:c.22G>T protEffect DMD:p.Glu8Stop DMD:c.2302C>T protEffect DMD:p.Arg768Stop DMD:c.2308A>T protEffect DMD:p.Lys770Stop DMD:c.2314G>T protEffect DMD:p.Glu772Stop DMD:c.2317A>G protEffect DMD:p.Lys773Glu DMD:c.2317A>T protEffect DMD:p.Lys773Stop DMD:c.2353C>T protEffect DMD:p.Gln785Stop DMD:c.2365G>T protEffect DMD:p.Glu789Stop DMD:c.2368C>T protEffect DMD:p.Gln790Stop DMD:c.2370G>T protEffect DMD:p.Gln790His DMD:c.2378A>G protEffect DMD:p.Asn793Ser DMD:c.2391T>G protEffect DMD:p.Asn797Lys DMD:c.2396A>G protEffect DMD:p.Asp799Gly DMD:c.2404A>T protEffect DMD:p.Lys802Stop DMD:c.2407C>T protEffect DMD:p.Gln803Stop DMD:c.2416G>T protEffect DMD:p.Glu806Stop DMD:c.2418A>C protEffect DMD:p.Glu806Asp DMD:c.2419C>T protEffect DMD:p.Gln807Stop DMD:c.2435G>A protEffect DMD:p.Trp812Stop DMD:c.2440G>T protEffect DMD:p.Glu814Stop DMD:c.2449C>T protEffect DMD:p.Gln817Stop DMD:c.2457A>C protEffect DMD:p.Leu819Leu DMD:c.245G>C protEffect DMD:p.Arg82Pro DMD:c.2474G>A protEffect DMD:p.Trp825Stop DMD:c.2475G>A protEffect DMD:p.Trp825Stop DMD:c.2479G>T protEffect DMD:p.Glu827Stop DMD:c.2484T>G protEffect DMD:p.Tyr828Stop DMD:c.2485C>T protEffect DMD:p.Gln829Stop DMD:c.2490C>T protEffect DMD:p.Asn830Asn DMD:c.2512C>T protEffect DMD:p.Gln838Stop DMD:c.2521C>T protEffect DMD:p.Gln841Stop DMD:c.2527G>T protEffect DMD:p.Glu843Stop DMD:c.2530C>T protEffect DMD:p.Gln844Stop DMD:c.253C>T protEffect DMD:p.Gln85Stop DMD:c.2558T>A protEffect DMD:p.Leu853Stop DMD:c.2566C>T protEffect DMD:p.Gln856Stop DMD:c.2582C>G protEffect DMD:p.Ser861Stop DMD:c.2602A>G protEffect DMD:p.Ser868Gly DMD:c.2605C>T protEffect DMD:p.Gln869Stop DMD:c.2611A>T protEffect DMD:p.Lys871Stop DMD:c.2622G>C protEffect DMD:p.Lys874Asn DMD:c.2645G>A protEffect DMD:p.Gly882Asp DMD:c.2650C>T protEffect DMD:p.Gln884Stop DMD:c.2665C>T protEffect DMD:p.Arg889Stop DMD:c.2669T>G protEffect DMD:p.Leu890Stop DMD:c.2671A>T protEffect DMD:p.Lys891Stop DMD:c.2677C>T protEffect DMD:p.Gln893Stop DMD:c.2701G>T protEffect DMD:p.Gly901Stop DMD:c.2707G>T protEffect DMD:p.Gly903Stop DMD:c.272T>A protEffect DMD:p.Leu91Stop DMD:c.2755A>T protEffect DMD:p.Lys919Stop DMD:c.2758C>T protEffect DMD:p.Gln920Stop DMD:c.2762T>C protEffect DMD:p.Val921Ala DMD:c.2776C>T protEffect DMD:p.Gln926Stop DMD:c.2788A>T protEffect DMD:p.Lys930Stop DMD:c.2791G>T protEffect DMD:p.Glu931Stop DMD:c.2795T>C protEffect DMD:p.Leu932Pro DMD:c.2797C>T protEffect DMD:p.Gln933Stop DMD:c.2833C>T protEffect DMD:p.Gln945Stop DMD:c.2836G>T protEffect DMD:p.Glu946Stop DMD:c.2862G>A protEffect DMD:p.Trp954Stop DMD:c.2866C>T protEffect DMD:p.Gln956Stop DMD:c.2869C>T protEffect DMD:p.Gln957Stop DMD:c.2873C>G protEffect DMD:p.Ser958Stop DMD:c.2916T>A protEffect DMD:p.Tyr972Stop DMD:c.2929C>T protEffect DMD:p.Gln977Stop DMD:c.2947C>T protEffect DMD:p.Gln983Stop DMD:c.2949G>C protEffect DMD:p.Gln983His DMD:c.2954T>A protEffect DMD:p.Leu985Stop DMD:c.2956C>T protEffect DMD:p.Gln986Stop DMD:c.2968C>T protEffect DMD:p.Gln990Stop DMD:c.2971G>C protEffect DMD:p.Glu991Gln DMD:c.2971G>T protEffect DMD:p.Glu991Stop DMD:c.2974C>T protEffect DMD:p.Gln992Stop DMD:c.2991C>G protEffect DMD:p.Tyr997Stop DMD:c.2994T>A protEffect DMD:p.Tyr998Stop DMD:c.3021G>A protEffect DMD:p.Ser1007Ser DMD:c.3030G>T protEffect DMD:p.Ala1010Ala DMD:c.3049A>T protEffect DMD:p.Lys1017Stop DMD:c.3054T>G protEffect DMD:p.Tyr1018Stop DMD:c.3059C>G protEffect DMD:p.Ser1020Stop DMD:c.3061G>T protEffect DMD:p.Glu1021Stop DMD:c.3067G>T protEffect DMD:p.Glu1023Stop DMD:c.3076G>T protEffect DMD:p.Glu1026Stop DMD:c.3086G>A protEffect DMD:p.Trp1029Stop DMD:c.3087G>A protEffect DMD:p.Trp1029Stop DMD:c.3103C>T protEffect DMD:p.Gln1035Stop DMD:c.3121C>T protEffect DMD:p.Gln1041Stop DMD:c.3136C>T protEffect DMD:p.Gln1046Stop DMD:c.313A>T protEffect DMD:p.Lys105Stop DMD:c.3151C>T protEffect DMD:p.Arg1051Stop DMD:c.3188G>A protEffect DMD:p.Trp1063Stop DMD:c.3196G>T protEffect DMD:p.Glu1066Stop DMD:c.3217G>T protEffect DMD:p.Glu1073Stop DMD:c.3220G>T protEffect DMD:p.Glu1074Stop DMD:c.3224G>A protEffect DMD:p.Trp1075Stop DMD:c.3244G>T protEffect DMD:p.Glu1082Stop DMD:c.3256A>T protEffect DMD:p.Lys1086Stop DMD:c.3259C>T protEffect DMD:p.Gln1087Stop DMD:c.3268C>T protEffect DMD:p.Gln1090Stop DMD:c.3274A>T protEffect DMD:p.Arg1092Stop DMD:c.3281T>G protEffect DMD:p.Leu1094Stop DMD:c.329T>A protEffect DMD:p.Leu110Stop DMD:c.3300A>C protEffect DMD:p.Thr1100Thr DMD:c.3304C>T protEffect DMD:p.Gln1102Stop DMD:c.3326A>T protEffect DMD:p.Asn1109Ile DMD:c.3337C>T protEffect DMD:p.Gln1113Stop DMD:c.3340A>T protEffect DMD:p.Lys1114Stop DMD:c.3351T>G protEffect DMD:p.Asn1117Lys DMD:c.3352G>T protEffect DMD:p.Glu1118Stop DMD:c.3392T>C protEffect DMD:p.Leu1131Pro ADM_1 commonName Ala79Val ADM_1 alias NM_000021.2:c.236C>T ADM_1 protEffect NP_000012.1:p.A79V ADM_1 disease phenotype-associated ADM_1 phenoCommon Alzheimer Disease ADM_1 comment Point mutation in coding region predicting an amino acid substitution ADM_2 commonName Ile143Thr ADM_2 alias NM_000021.2:c.428T>C ADM_2 protEffect NP_000012.1:p.I143T ADM_2 disease phenotype-associated ADM_2 phenoCommon Alzheimer Disease ADM_2 comment Point mutation in coding region predicting an amino acid substitution ADM_3 commonName Val82Leu ADM_3 alias NM_000021.2:c.244G>C ADM_3 protEffect NP_000012.1:p.V82L ADM_3 disease phenotype-associated ADM_3 phenoCommon Alzheimer Disease ADM_3 comment Point mutation in coding region predicting an amino acid substitution ADM_5 commonName Val96Phe ADM_5 alias NM_000021.2:c.286G>T ADM_5 protEffect NP_000012.1:p.V96F ADM_5 disease phenotype-associated ADM_5 phenoCommon Alzheimer Disease ADM_5 comment Point mutation in coding region predicting an amino acid substitution ADM_6 commonName Intron4; InsTAC ADM_6 alias NM_000021.2:c.338_339insTAC; c.170_338del; c.88_338del ADM_6 protEffect NP_000012.1:p.L113_I114insT; p.D31Frameshift; p.G57Frameshift ADM_6 disease phenotype-associated ADM_6 phenoCommon Alzheimer Disease ADM_6 comment "Point mutation in splice donor consensus site of intron 4 resulting in 3 different transcripts with a single-codon insertion, partial and complete deletion of exon 4 respectively, the latter 2 resulting in a frame-shift and premature stop codon." ADM_7 commonName Tyr115Cys ADM_7 alias NM_000021.2:c.344A>G ADM_7 protEffect NP_000012.1:p.Y115C ADM_7 disease phenotype-associated ADM_7 phenoCommon Alzheimer Disease ADM_7 comment Point mutation in coding region predicting an amino acid substitution ADM_8 commonName Tyr115His ADM_8 alias NM_000021.2:c.343T>C ADM_8 protEffect NP_000012.1:p.Y115H ADM_8 disease phenotype-associated ADM_8 phenoCommon Alzheimer Disease ADM_8 comment Point mutation in coding region predicting an amino acid substitution ADM_9 commonName Pro117Leu ADM_9 alias NM_000021.2:c.350C>T ADM_9 protEffect NP_000012.1:p.P117L ADM_9 disease phenotype-associated ADM_9 phenoCommon Alzheimer Disease ADM_9 comment Point mutation in coding region predicting an amino acid substitution ADM_10 commonName Glu120Asp ADM_10 alias NM_000021.2:c.360A>T ADM_10 protEffect NP_000012.1:p.E120D ADM_10 disease phenotype-associated ADM_10 phenoCommon Alzheimer Disease ADM_10 comment Point mutation in coding region predicting an amino acid substitution ADM_11 commonName Glu120Lys ADM_11 alias NM_000021.2:c.358G>A ADM_11 protEffect NP_000012.1:p.E120K ADM_11 disease phenotype-associated ADM_11 phenoCommon Alzheimer Disease ADM_11 comment Point mutation in coding region predicting an amino acid substitution ADM_12 commonName Asn135Asp ADM_12 alias NM_000021.2:c.403A>G ADM_12 protEffect NP_000012.1:p.N135D ADM_12 disease phenotype-associated ADM_12 phenoCommon Alzheimer Disease ADM_12 comment Point mutation in coding region predicting an amino acid substitution ADM_13 commonName Met139Ile ADM_13 alias NM_000021.2:c.417G>A ADM_13 protEffect NP_000012.1:p.M139I ADM_13 disease phenotype-associated ADM_13 phenoCommon Alzheimer Disease ADM_13 comment Point mutation in coding region predicting an amino acid substitution ADM_14 commonName Met139Thr ADM_14 alias NM_000021.2:c.416T>C ADM_14 protEffect NP_000012.1:p.M139T ADM_14 disease phenotype-associated ADM_14 phenoCommon Alzheimer Disease ADM_14 comment Point mutation in coding region predicting an amino acid substitution ADM_15 commonName Met139Val ADM_15 alias NM_000021.2:c.415A>G ADM_15 protEffect NP_000012.1:p.M139V ADM_15 disease phenotype-associated ADM_15 phenoCommon Alzheimer Disease / Frontotemporal Dementia ADM_15 comment Point mutation in coding region predicting an amino acid substitution ADM_16 commonName Ile143Phe ADM_16 alias NM_000021.2:c.427A>T ADM_16 protEffect NP_000012.1:p.I143F ADM_16 disease phenotype-associated ADM_16 phenoCommon Alzheimer Disease ADM_16 comment Point mutation in coding region predicting an amino acid substitution ADM_17 commonName Met146Ile ADM_17 alias NM_000021.2:c.438G>C ADM_17 protEffect NP_000012.1:p.M146I ADM_17 disease phenotype-associated ADM_17 phenoCommon Alzheimer Disease ADM_17 comment Point mutation in coding region predicting an amino acid substitution ADM_18 commonName Met146Leu ADM_18 alias NM_000021.2:c.436A>T ADM_18 protEffect NP_000012.1:p.M146L ADM_18 disease phenotype-associated ADM_18 phenoCommon Alzheimer Disease ADM_18 comment Point mutation in coding region predicting an amino acid substitution ADM_19 commonName Met146Val ADM_19 alias NM_000021.2:c.436A>G ADM_19 protEffect NP_000012.1:p.M146V ADM_19 disease phenotype-associated ADM_19 phenoCommon Alzheimer Disease ADM_19 comment Point mutation in coding region predicting an amino acid substitution ADM_20 commonName His163Arg ADM_20 alias NM_000021.2:c.488A>G ADM_20 protEffect NP_000012.1:p.H163R ADM_20 disease phenotype-associated ADM_20 phenoCommon Alzheimer Disease / Myoclonus ADM_20 comment Point mutation in coding region predicting an amino acid substitution ADM_21 commonName His163Tyr ADM_21 alias NM_000021.2:c.487C>T ADM_21 protEffect NP_000012.1:p.H163Y ADM_21 disease phenotype-associated ADM_21 phenoCommon Alzheimer Disease ADM_21 comment Point mutation in coding region predicting an amino acid substitution ADM_22 commonName Glu184Asp ADM_22 alias NM_000021.2:c.552A>C ADM_22 protEffect NP_000012.1:p.E184D ADM_22 disease phenotype-associated ADM_22 phenoCommon Alzheimer Disease ADM_22 comment Point mutation in coding region predicting an amino acid substitution ADM_23 commonName Gly209Val ADM_23 alias NM_000021.2:c.626G>T ADM_23 protEffect NP_000012.1:p.G209V ADM_23 disease phenotype-associated ADM_23 phenoCommon Alzheimer Disease ADM_23 comment Point mutation in coding region predicting an amino acid substitution ADM_24 commonName Ile213Thr ADM_24 alias NM_000021.2:c.638T>C ADM_24 protEffect NP_000012.1:p.I213T ADM_24 disease phenotype-associated ADM_24 phenoCommon Alzheimer Disease ADM_24 comment Point mutation in coding region predicting an amino acid substitution ADM_25 commonName Ala231Thr ADM_25 alias NM_000021.2:c.691G>A ADM_25 protEffect NP_000012.1:p.A231T ADM_25 disease phenotype-associated ADM_25 phenoCommon Alzheimer Disease ADM_25 comment Point mutation in coding region predicting an amino acid substitution ADM_26 commonName Ala231Val ADM_26 alias NM_000021.2:c.692C>T ADM_26 protEffect NP_000012.1:p.A231V ADM_26 disease phenotype-associated ADM_26 phenoCommon Alzheimer Disease ADM_26 comment Point mutation in coding region predicting an amino acid substitution ADM_27 commonName Met233Thr ADM_27 alias NM_000021.2:c.698T>C ADM_27 protEffect NP_000012.1:p.M233T ADM_27 disease phenotype-associated ADM_27 phenoCommon Alzheimer Disease ADM_27 comment Point mutation in coding region predicting an amino acid substitution ADM_28 commonName Leu235Pro ADM_28 alias NM_000021.2:c.704T>C ADM_28 protEffect NP_000012.1:p.L235P ADM_28 disease phenotype-associated ADM_28 phenoCommon Alzheimer Disease / Myoclonus ADM_28 comment Point mutation in coding region predicting an amino acid substitution ADM_29 commonName Ala246Glu ADM_29 alias NM_000021.2:c.737C>A ADM_29 protEffect NP_000012.1:p.A246E ADM_29 disease phenotype-associated ADM_29 phenoCommon Alzheimer Disease ADM_29 comment Point mutation in coding region predicting an amino acid substitution ADM_30 commonName Leu250Ser ADM_30 alias NM_000021.2:c.749T>C ADM_30 protEffect NP_000012.1:p.L250S ADM_30 disease phenotype-associated ADM_30 phenoCommon Alzheimer Disease ADM_30 comment Point mutation in coding region predicting an amino acid substitution ADM_31 commonName Ala260Val ADM_31 alias NM_000021.2:c.779C>T ADM_31 protEffect NP_000012.1:p.A260V ADM_31 disease phenotype-associated ADM_31 phenoCommon Alzheimer Disease ADM_31 comment Point mutation in coding region predicting an amino acid substitution ADM_32 commonName Leu262Phe ADM_32 alias NM_000021.2:c.786G>C ADM_32 protEffect NP_000012.1:p.L262F ADM_32 disease phenotype-associated ADM_32 phenoCommon Alzheimer Disease ADM_32 comment Point mutation in coding region predicting an amino acid substitution ADM_33 commonName Cys263Arg ADM_33 alias NM_000021.2:c.787T>C ADM_33 protEffect NP_000012.1:p.C263R ADM_33 disease phenotype-associated ADM_33 phenoCommon Alzheimer Disease ADM_33 comment Point mutation in coding region predicting an amino acid substitution ADM_34 commonName Pro264Leu ADM_34 alias NM_000021.2:c.791C>T ADM_34 protEffect NP_000012.1:p.P264L ADM_34 disease phenotype-associated ADM_34 phenoCommon Alzheimer Disease or Atypical Dementia / Spastic Paraparesis ADM_34 comment Point mutation in coding region predicting an amino acid substitution ADM_35 commonName Pro267Ser ADM_35 alias NM_000021.2:c.799C>T ADM_35 protEffect NP_000012.1:p.P267S ADM_35 disease phenotype-associated ADM_35 phenoCommon Alzheimer Disease ADM_35 comment Point mutation in coding region predicting an amino acid substitution ADM_36 commonName Arg269Gly ADM_36 alias NM_000021.2:c.805C>G ADM_36 protEffect NP_000012.1:p.R269G ADM_36 disease phenotype-associated ADM_36 phenoCommon Alzheimer Disease / Myoclonus ADM_36 comment Point mutation in coding region predicting an amino acid substitution ADM_37 commonName Arg269His ADM_37 alias NM_000021.2:c.806G>A ADM_37 protEffect NP_000012.1:p.R269H ADM_37 disease phenotype-associated ADM_37 phenoCommon Alzheimer Disease / Myoclonus ADM_37 comment Point mutation in coding region predicting an amino acid substitution ADM_38 commonName Arg278Thr ADM_38 alias NM_000021.2:c.833G>C ADM_38 protEffect NP_000012.1:p.R278T ADM_38 disease phenotype-associated ADM_38 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_38 comment Point mutation in coding region predicting an amino acid substitution ADM_39 commonName Glu280Ala ADM_39 alias NM_000021.2:c.839A>C ADM_39 protEffect NP_000012.1:p.E280A ADM_39 disease phenotype-associated ADM_39 phenoCommon Alzheimer Disease ADM_39 comment Point mutation in coding region predicting an amino acid substitution ADM_40 commonName Glu280Gly ADM_40 alias NM_000021.2:c.839A>G ADM_40 protEffect NP_000012.1:p.E280G ADM_40 disease phenotype-associated ADM_40 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_40 comment Point mutation in coding region predicting an amino acid substitution ADM_41 commonName Leu282Arg ADM_41 alias NM_000021.2:c.845T>G ADM_41 protEffect NP_000012.1:p.L282R ADM_41 disease phenotype-associated ADM_41 phenoCommon Alzheimer Disease ADM_41 comment Point mutation in coding region predicting an amino acid substitution ADM_42 commonName Ala285Val ADM_42 alias NM_000021.2:c.854C>T ADM_42 protEffect NP_000012.1:p.A285V ADM_42 disease phenotype-associated ADM_42 phenoCommon Alzheimer Disease ADM_42 comment Point mutation in coding region predicting an amino acid substitution ADM_43 commonName Leu286Val ADM_43 alias NM_000021.2:c.856C>G ADM_43 protEffect NP_000012.1:p.L286V ADM_43 disease phenotype-associated ADM_43 phenoCommon Alzheimer Disease ADM_43 comment Point mutation in coding region predicting an amino acid substitution ADM_44 commonName Gly378Glu ADM_44 alias NM_000021.2:c.1133G>A ADM_44 protEffect NP_000012.1:p.G378E ADM_44 disease phenotype-associated ADM_44 phenoCommon Alzheimer Disease / CAA ADM_44 comment Point mutation in coding region predicting an amino acid substitution ADM_45 commonName Gly384Ala ADM_45 alias NM_000021.2:c.1151G>C ADM_45 protEffect NP_000012.1:p.G384A ADM_45 disease phenotype-associated ADM_45 phenoCommon Alzheimer Disease ADM_45 comment Point mutation in coding region predicting an amino acid substitution ADM_46 commonName Leu392Val ADM_46 alias NM_000021.2:c.1174C>G ADM_46 protEffect NP_000012.1:p.L392V ADM_46 disease phenotype-associated ADM_46 phenoCommon Alzheimer Disease ADM_46 comment Point mutation in coding region predicting an amino acid substitution ADM_47 commonName Cys410Tyr ADM_47 alias NM_000021.2:c.1229G>A ADM_47 protEffect NP_000012.1:p.C410Y ADM_47 disease phenotype-associated ADM_47 phenoCommon Alzheimer Disease ADM_47 comment Point mutation in coding region predicting an amino acid substitution ADM_48 commonName Ala426Pro ADM_48 alias NM_000021.2:c.1276G>C ADM_48 protEffect NP_000012.1:p.A426P ADM_48 disease phenotype-associated ADM_48 phenoCommon Alzheimer Disease ADM_48 comment Point mutation in coding region predicting an amino acid substitution ADM_50 commonName Arg62His ADM_50 alias NM_000447.1:c.185G>A ADM_50 protEffect NP_000438.1:p.R62H ADM_50 phenoCommon Alzheimer Disease ADM_50 comment Point mutation in coding region predicting an amino acid substitution ADM_51 commonName Asn141Ile ADM_51 alias NM_000447.1:c.422A>T ADM_51 protEffect NP_000438.1:p.N141I ADM_51 disease phenotype-associated ADM_51 phenoCommon Alzheimer Disease ADM_51 comment Point mutation in coding region predicting an amino acid substitution ADM_52 commonName Val148Ile ADM_52 alias NM_000447.1:c.442G>A ADM_52 protEffect NP_000438.1:p.V148I ADM_52 disease phenotype-associated ADM_52 phenoCommon Alzheimer Disease ADM_52 comment Point mutation in coding region predicting an amino acid substitution ADM_53 commonName Met239Val ADM_53 alias NM_000447.1:c.715A>G ADM_53 protEffect NP_000438.1:p.M239V ADM_53 disease phenotype-associated ADM_53 phenoCommon Alzheimer Disease ADM_53 comment Point mutation in coding region predicting an amino acid substitution ADM_55 commonName APPKM670/671NL; Swedish APP ADM_55 protEffect NP_000475.1:p.[K670N;M671L] ADM_55 disease phenotype-associated ADM_55 phenoCommon Alzheimer Disease ADM_55 comment Double point mutation in coding region causing 2 adjacent amino acid changes ADM_56 commonName Ala692Gly; Flemish APP ADM_56 alias NM_000484.2:c.2018C>G ADM_56 protEffect NP_000475.1:p.A692G ADM_56 disease phenotype-associated ADM_56 phenoCommon Alzheimer Disease / Cerebral Hemorrhage ADM_56 comment Point mutation in coding region predicting an amino acid substitution ADM_57 commonName Ile716Val; Florida APP ADM_57 alias NM_000484.2:c.2146A>G ADM_57 protEffect NP_000475.1:p.I716V ADM_57 disease phenotype-associated ADM_57 phenoCommon Alzheimer Disease ADM_57 comment Point mutation in coding region predicting an amino acid substitution ADM_58 commonName Val717Gly ADM_58 alias NM_000484.2:c.2150T>G ADM_58 protEffect NP_000475.1:p.V717G ADM_58 disease phenotype-associated ADM_58 phenoCommon Alzheimer Disease ADM_58 comment Point mutation in coding region predicting an amino acid substitution ADM_59 commonName Val717Ile; London APP ADM_59 alias NM_000484.2:c.2149G>A ADM_59 protEffect NP_000475.1:p.V717I ADM_59 disease phenotype-associated ADM_59 phenoCommon Alzheimer Disease ADM_59 comment Point mutation in coding region predicting an amino acid substitution ADM_60 commonName Val717Phe ADM_60 alias NM_000484.2:c.2149G>T ADM_60 protEffect NP_000475.1:p.V717F ADM_60 disease phenotype-associated ADM_60 phenoCommon Alzheimer Disease ADM_60 comment Point mutation in coding region predicting an amino acid substitution ADM_61 commonName Leu723Pro; Australian APP ADM_61 alias NM_000484.2:c.2168T>C ADM_61 protEffect NP_000475.1:p.L723P ADM_61 disease phenotype-associated ADM_61 phenoCommon Alzheimer Disease ADM_61 comment Point mutation in coding region predicting an amino acid substitution ADM_63 commonName Δ9 ADM_63 alias NM_000021.2:c.869_955del ADM_63 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_63 disease phenotype-associated ADM_63 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_63 comment Point mutation in splice acceptor consensus of intron 8 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_64 commonName Δ9 ADM_64 alias NM_000021.2:c.869_955del ADM_64 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_64 disease phenotype-associated ADM_64 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_64 comment Point mutation in splice acceptor consensus of intron 8 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_65 commonName Δ9Finn ADM_65 alias NM_000021.2:c.869_955del ADM_65 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_65 disease phenotype-associated ADM_65 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_65 comment 4555bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_66 commonName Glu123Lys ADM_66 alias NM_000021.2:c.367G>A ADM_66 protEffect NP_000012.1:p.E123L ADM_66 disease phenotype-associated ADM_66 phenoCommon Alzheimer Disease ADM_66 comment Point mutation in coding region predicting an amino acid substitution ADM_67 commonName Glu273Ala ADM_67 alias NM_000021.2:c.818A>C ADM_67 protEffect NP_000012.1:p.E273A ADM_67 disease phenotype-associated ADM_67 phenoCommon Alzheimer Disease DMD:c.3397G>T protEffect DMD:p.Glu1133Stop ADM_67 comment Point mutation in coding region predicting an amino acid substitution ADM_68 commonName Leu171Pro ADM_68 alias NM_000021.2:c.512T>C ADM_68 protEffect NP_000012.1:p.L171P ADM_68 disease phenotype-associated ADM_68 phenoCommon Alzheimer Disease ADM_68 comment Point mutation in coding region predicting an amino acid substitution ADM_69 commonName Ser169Leu ADM_69 alias NM_000021.2:c.506C>T ADM_69 protEffect NP_000012.1:p.S169L ADM_69 disease phenotype-associated ADM_69 phenoCommon Alzheimer Disease / Myoclonus VAR_000005 commonName VAR_000005 ADM_69 comment Point mutation in coding region predicting an amino acid substitution ADM_70 commonName Pro436Gln ADM_70 alias NM_000021.2:c.1307C>A ADM_70 protEffect NP_000012.1:p.P436Q ADM_70 disease phenotype-associated ADM_70 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_70 comment Point mutation in coding region predicting an amino acid substitution ADM_71 commonName Val715Met; French APP ADM_71 alias NM_000484.2:c.2143G>A ADM_71 protEffect NP_000475.1:p.V715M ADM_71 disease phenotype-associated ADM_71 phenoCommon Alzheimer Disease ADM_71 comment Point mutation in coding region predicting an amino acid substitution ADM_72 commonName Leu219Pro ADM_72 alias NM_000021.2:c.656T>C ADM_72 protEffect NP_000012.1:p.L219P ADM_72 disease phenotype-associated ADM_72 phenoCommon Alzheimer Disease ADM_72 comment Point mutation in coding region predicting an amino acid substitution ADM_73 commonName Met233Leu ADM_73 alias NM_000021.2:c.697A>C ADM_73 protEffect NP_000012.1:p.M233L ADM_73 disease phenotype-associated ADM_73 phenoCommon Alzheimer Disease ADM_73 comment Point mutation in coding region predicting an amino acid substitution ADM_74 commonName Ala409Thr ADM_74 alias NM_000021.2:c.1225G>A ADM_74 protEffect NP_000012.1:p.A409T ADM_74 disease phenotype-associated ADM_74 phenoCommon Alzheimer Disease ADM_74 comment Point mutation in coding region predicting an amino acid substitution ADM_75 commonName Phe105Leu ADM_75 alias NM_000021.2:c.315T>G ADM_75 protEffect NP_000012.1:p.F105L ADM_75 disease phenotype-associated ADM_75 phenoCommon Alzheimer Disease ADM_75 comment Point mutation in coding region predicting an amino acid substitution ADM_76 commonName Thr122Pro ADM_76 alias NM_000447.1:c.364A>C ADM_76 protEffect NP_000438.1:p.T122P ADM_76 disease phenotype-associated ADM_76 phenoCommon Alzheimer Disease ADM_76 comment Point mutation in coding region predicting an amino acid substitution ADM_77 commonName Met239Ile ADM_77 alias NM_000447.1:c.717G>A ADM_77 protEffect NP_000438.1:p.M239I ADM_77 disease phenotype-associated ADM_77 phenoCommon Alzheimer Disease ADM_77 comment Point mutation in coding region predicting an amino acid substitution ADM_78 commonName Asn405Ser ADM_78 alias NM_000021.2:c.1214A>G ADM_78 protEffect NP_000012.1:p.N405S ADM_78 disease phenotype-associated ADM_78 phenoCommon Alzheimer Disease ADM_78 comment Point mutation in coding region predicting an amino acid substitution ADM_79 commonName Ser169Pro ADM_79 alias NM_000021.2:c.505T>C ADM_79 protEffect NP_000012.1:p.S169P ADM_79 disease phenotype-associated ADM_79 phenoCommon Alzheimer Disease / Myoclonus ADM_79 comment Point mutation in coding region predicting an amino acid substitution ADM_81 commonName Gly209Arg ADM_81 alias NM_000021.2:c.625G>A ADM_81 protEffect NP_000012.1:p.G209R ADM_81 disease phenotype-associated ADM_81 phenoCommon Alzheimer Disease ADM_81 comment Point mutation in coding region predicting an amino acid substitution ADM_82 commonName Met139Lys ADM_82 alias NM_000021.2:c.416T>A ADM_82 protEffect NP_000012.1:p.M139K ADM_82 disease phenotype-associated ADM_82 phenoCommon Alzheimer Disease ADM_82 comment Point mutation in coding region predicting an amino acid substitution ADM_83 commonName Thr147Ile ADM_83 alias NM_000021.2:c.440C>T ADM_83 protEffect NP_000012.1:p.T147I ADM_83 disease phenotype-associated ADM_83 phenoCommon Alzheimer Disease ADM_83 comment Point mutation in coding region predicting an amino acid substitution ADM_84 commonName Leu173Trp ADM_84 alias NM_000021.2:c.518T>G ADM_84 protEffect NP_000012.1:p.L173W ADM_84 disease phenotype-associated ADM_84 phenoCommon Alzheimer Disease ADM_84 comment Point mutation in coding region predicting an amino acid substitution ADM_85 commonName Trp165Cys ADM_85 alias NM_000021.2:c.495G>C ADM_85 protEffect NP_000012.1:p.W165C ADM_85 disease phenotype-associated ADM_85 phenoCommon Alzheimer Disease ADM_85 comment Point mutation in coding region predicting an amino acid substitution ADM_86 commonName Ser390Ile ADM_86 alias NM_000021.2:c.1169G>T ADM_86 protEffect NP_000012.1:p.S390I ADM_86 disease phenotype-associated ADM_86 phenoCommon Alzheimer Disease ADM_86 comment Point mutation in coding region predicting an amino acid substitution ADM_87 commonName Met146Ile ADM_87 alias NM_000021.2:c.438G>A ADM_87 protEffect NP_000012.1:p.M146I ADM_87 disease phenotype-associated ADM_87 phenoCommon Alzheimer Disease ADM_87 comment Point mutation in coding region predicting an amino acid substitution ADM_88 commonName Leu166Arg ADM_88 alias NM_000021.2:c.497T>G ADM_88 protEffect NP_000012.1:p.L166R ADM_88 disease phenotype-associated ADM_88 phenoCommon Alzheimer Disease ADM_88 comment Point mutation in coding region predicting an amino acid substitution ADM_89 commonName Pro436Ser ADM_89 alias NM_000021.2:c.1306C>T ADM_89 protEffect NP_000012.1:p.P936S ADM_89 disease phenotype-associated ADM_89 phenoCommon Alzheimer Disease ADM_89 comment Point mutation in coding region predicting an amino acid substitution ADM_90 commonName Val717Leu ADM_90 alias NM_000484.2:c.2149G>C ADM_90 protEffect NP_000475.1:p.V717L ADM_90 disease phenotype-associated ADM_90 phenoCommon Alzheimer Disease ADM_90 comment Point mutation in coding region predicting an amino acid substitution ADM_91 commonName Leu153Val ADM_91 alias NM_000021.2:c.457C>G ADM_91 protEffect NP_000012.1:p.L153V ADM_91 disease phenotype-associated ADM_91 phenoCommon Alzheimer Disease ADM_91 comment Point mutation in coding region predicting an amino acid substitution ADM_92 commonName Val261Phe ADM_92 alias NM_000021.2:c.781G>T ADM_92 protEffect NP_000012.1:p.V261F ADM_92 disease phenotype-associated ADM_92 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_92 comment Point mutation in coding region predicting an amino acid substitution ADM_93 commonName Thr116Asn ADM_93 alias NM_000021.2:c.347C>A ADM_93 protEffect NP_000012.1:p.T116N ADM_93 disease phenotype-associated ADM_93 phenoCommon Alzheimer Disease ADM_93 comment Point mutation in coding region predicting an amino acid substitution ADM_94 commonName Leu219Phe ADM_94 alias NM_000021.2:c.655C>T ADM_94 protEffect NP_000012.1:p.L219F ADM_94 disease phenotype-associated ADM_94 phenoCommon Alzheimer Disease ADM_94 comment Point mutation in coding region predicting an amino acid substitution ADM_95 commonName Val94Met ADM_95 alias NM_000021.2:c.280G>A ADM_95 protEffect NP_000012.1:p.V94M ADM_95 disease phenotype-associated ADM_95 phenoCommon Alzheimer Disease ADM_95 comment Point mutation in coding region predicting an amino acid substitution ADM_96 commonName Glu693Gly; Arctic APP ADM_96 alias NM_000484.2:c.2021A>G ADM_96 protEffect NP_000475.1:p.E693G ADM_96 disease phenotype-associated ADM_96 phenoCommon Alzheimer Disease ADM_96 comment Point mutation in coding region predicting an amino acid substitution ADM_97 commonName "Thr714Ile, Austrian APP" ADM_97 alias NM_000484.2:c.2141C>T ADM_97 protEffect NP_000475.1:p.T714I ADM_97 disease phenotype-associated ADM_97 phenoCommon Alzheimer Disease ADM_97 comment Point mutation in coding region predicting an amino acid substitution ADM_98 commonName Δ9 ADM_98 alias NM_000021.2:c.869_955del ADM_98 protEffect NP_000012.1:p.[S290C;T291_S319del] ADM_98 disease phenotype-associated ADM_98 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_98 comment 5858 bp genomic deletion containing exon 9 resulting in in-frame skipping of exon 9 and an amino acid change at the splice junction of exon 8 and 10 ADM_99 commonName Glu120Asp ADM_99 alias NM_000021.2:c.360A>C ADM_99 protEffect NP_000012.1:p.E120D ADM_99 disease phenotype-associated ADM_99 phenoCommon Alzheimer Disease ADM_99 comment Point mutation in coding region predicting an amino acid substitution ADM_100 commonName Trp165Gly ADM_100 alias NM_000021.2:c.493T>G ADM_100 protEffect NP_000012.1:p.W165G ADM_100 disease phenotype-associated ADM_100 phenoCommon Alzheimer Disease ADM_100 comment Point mutation in coding region predicting an amino acid substitution ADM_101 commonName Leu392Pro ADM_101 alias NM_000021.2:c.1175T>C ADM_101 protEffect NP_000012.1:p.L392P ADM_101 disease phenotype-associated ADM_101 phenoCommon Alzheimer Disease / Epilepsy ADM_101 comment Point mutation in coding region predicting an amino acid substitution ADM_102 commonName Leu113Pro ADM_102 alias NM_000021.2:c.338T>C ADM_102 protEffect NP_000012.1:p.L113P ADM_102 disease phenotype-associated ADM_102 phenoCommon Alzheimer Disease / Frontotemporal Dementia ADM_102 comment Point mutation in coding region predicting an amino acid substitution ADM_103 commonName ΔI83/M84 ADM_103 alias NM_000021.2:c.247_252del ADM_103 protEffect NP_000012.1:p.I83_M84del ADM_103 disease phenotype-associated ADM_103 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_103 comment Hexanucleotide deletion resulting in deletion of 2 amino acids ADM_104 commonName Ala434Cys ADM_104 protEffect NP_000012.1:p.A434C ADM_104 disease phenotype-associated ADM_104 phenoCommon Alzheimer Disease ADM_104 comment Double Point mutation in coding region predicting an amino acid substitution ADM_105 commonName Asp694Asn; Iowa APP ADM_105 alias NM_000484.2:c.2080G>A ADM_105 protEffect NP_000475.1:p.D694N ADM_105 disease phenotype-associated ADM_105 phenoCommon Alzheimer Disease / CAA / Cerebral Hemorrhage ADM_105 comment Point mutation in coding region predicting an amino acid substitution ADM_106 commonName Arg35Gln ADM_106 alias NM_000021.2:c.104G>A ADM_106 protEffect NP_000012.1:p.R35Q ADM_106 disease not phenotype-associated ADM_106 phenoCommon Alzheimer Disease ADM_106 comment Point mutation in coding region predicting an amino acid substitution ADM_107 commonName Met146Leu ADM_107 alias NM_000021.2:c.436A>C ADM_107 protEffect NP_000012.1:p.M146L ADM_107 disease phenotype-associated ADM_107 phenoCommon Alzheimer Disease / Pick Disease ADM_107 comment Point mutation in coding region predicting an amino acid substitution ADM_108 commonName Met146Ile ADM_108 alias NM_000021.2:c.438G>T ADM_108 protEffect NP_000012.1:p.M146I ADM_108 disease phenotype-associated ADM_108 phenoCommon Alzheimer Disease ADM_108 comment Point mutation in coding region predicting an amino acid substitution ADM_109 commonName InsFI ADM_109 alias NM_000021.2:c.466_467insTTATAT ADM_109 protEffect NP_000012.1:p.K155_Y156insFI ADM_109 disease phenotype-associated ADM_109 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_109 comment Insertion of 6 nucleotides in coding region predicting an insertion of FI between amino acids K155 and Y156 ADM_110 commonName Phe177Leu ADM_110 alias NM_000021.2:c.529T>C ADM_110 protEffect NP_000012.1:p.F177L ADM_110 disease phenotype-associated ADM_110 phenoCommon Alzheimer Disease ADM_110 comment Point mutation in coding region predicting an amino acid substitution ADM_111 commonName Phe177Ser ADM_111 alias NM_000021.2:c.530T>C ADM_111 protEffect NP_000012.1:p.F177S ADM_111 disease phenotype-associated ADM_111 phenoCommon Alzheimer Disease ADM_111 comment Point mutation in coding region predicting an amino acid substitution ADM_112 commonName Ser178Pro ADM_112 alias NM_000021.2:c.532T>C ADM_112 protEffect NP_000012.1:p.S178P ADM_112 disease phenotype-associated ADM_112 phenoCommon Alzheimer Disease ADM_112 comment Point mutation in coding region predicting an amino acid substitution ADM_113 commonName Gly206Ser ADM_113 alias NM_000021.2:c.616G>A ADM_113 protEffect NP_000012.1:p.G206S ADM_113 disease phenotype-associated ADM_113 phenoCommon Alzheimer Disease ADM_113 comment Point mutation in coding region predicting an amino acid substitution ADM_114 commonName Gly206Ala ADM_114 alias NM_000021.2:c.617G>C ADM_114 protEffect NP_000012.1:p.G206A ADM_114 disease phenotype-associated ADM_114 phenoCommon Alzheimer Disease ADM_114 comment Point mutation in coding region predicting an amino acid substitution ADM_115 commonName Gly209Glu ADM_115 alias NM_000021.2:c.626G>A ADM_115 protEffect NP_000012.1:p.G209E ADM_115 disease phenotype-associated ADM_115 phenoCommon Alzheimer Disease ADM_115 comment Point mutation in coding region predicting an amino acid substitution ADM_116 commonName Ile213Leu ADM_116 alias NM_000021.2:c.637A>C ADM_116 protEffect NP_000012.1:p.I213L ADM_116 disease phenotype-associated ADM_116 phenoCommon Alzheimer Disease ADM_116 comment Point mutation in coding region predicting an amino acid substitution ADM_117 commonName Gln222Arg ADM_117 alias NM_000021.2:c.665A>G ADM_117 protEffect NP_000012.1:p.Q222R ADM_117 disease phenotype-associated ADM_117 phenoCommon Alzheimer Disease ADM_117 comment Point mutation in coding region predicting an amino acid substitution ADM_118 commonName Thr274Arg ADM_118 alias NM_000021.2:c.821C>G ADM_118 protEffect NP_000012.1:p.T274R ADM_118 disease phenotype-associated ADM_118 phenoCommon Alzheimer Disease ADM_118 comment Point mutation in coding region predicting an amino acid substitution ADM_119 commonName Thr354Ile ADM_119 alias NM_000021.2:c.1061C>T ADM_119 protEffect NP_000012.1:p.T354I ADM_119 phenoCommon Alzheimer Disease ADM_119 comment Point mutation in coding region predicting an amino acid substitution ADM_120 commonName Arg358Gln ADM_120 alias NM_000021.2:c.1073G>A ADM_120 protEffect NP_000012.1:p.R358Q ADM_120 disease phenotype-associated ADM_120 phenoCommon Alzheimer Disease ADM_120 comment Point mutation in coding region predicting an amino acid substitution ADM_121 commonName Ser365Tyr ADM_121 alias NM_000021.2:c.1094C>A ADM_121 protEffect NP_000012.1:p.S365Y ADM_121 disease phenotype-associated ADM_121 phenoCommon Alzheimer Disease ADM_121 comment Point mutation in coding region predicting an amino acid substitution ADM_122 commonName Gly394Val ADM_122 alias NM_000021.2:c.1181G>T ADM_122 protEffect NP_000012.1:p.G394V ADM_122 disease phenotype-associated ADM_122 phenoCommon Alzheimer Disease ADM_122 comment Point mutation in coding region predicting an amino acid substitution ADM_123 commonName Leu418Phe ADM_123 alias NM_000021.2:c.1254G>T ADM_123 protEffect NP_000012.1:p.L418F ADM_123 disease phenotype-associated ADM_123 phenoCommon Alzheimer Disease ADM_123 comment Point mutation in coding region predicting an amino acid substitution ADM_124 commonName Ala431Glu ADM_124 alias NM_000021.2:c.1292C>A ADM_124 protEffect NP_000012.1:p.A431E ADM_124 disease phenotype-associated ADM_124 phenoCommon Alzheimer Disease ADM_124 comment Point mutation in coding region predicting an amino acid substitution ADM_125 commonName Leu435Phe ADM_125 alias NM_000021.2:c.1303C>T ADM_125 protEffect NP_000012.1:p.L435F ADM_125 disease phenotype-associated ADM_125 phenoCommon Alzheimer Disease ADM_125 comment Point mutation in coding region predicting an amino acid substitution ADM_126 commonName Ile439Val ADM_126 alias NM_000021.2:c.1315A>G ADM_126 protEffect NP_000012.1:p.I439V ADM_126 disease phenotype-associated ADM_126 phenoCommon Alzheimer Disease ADM_126 comment Point mutation in coding region predicting an amino acid substitution ADM_127 commonName InsR352 ADM_127 alias NM_000021.2:c.1055_1056insTCG ADM_127 protEffect NP_000012.1:p.R352_S353insR ADM_127 phenoCommon Frontotemporal Dementia ADM_127 comment Insertion of 3 nucleotides in coding region predicting an insertion of R between amino acids R352 and S353 ADM_128 commonName Met233Val ADM_128 alias NM_000021.2:c.697A>G ADM_128 protEffect NP_000012.1:p.M233V ADM_128 disease phenotype-associated ADM_128 phenoCommon Alzheimer Disease ADM_128 comment Point mutation in coding region predicting an amino acid substitution ADM_129 commonName Leu282Val ADM_129 alias NM_000021.2:c.844C>G ADM_129 protEffect NP_000012.1:p.L282V ADM_129 disease phenotype-associated ADM_129 phenoCommon Alzheimer Disease / CAA ADM_129 comment Point mutation in coding region predicting an amino acid substitution ADM_131 commonName Phe237Ile ADM_131 alias NM_000021.2:c.709T>A ADM_131 protEffect NP_000012.1:p.F237I ADM_131 disease phenotype-associated ADM_131 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_131 comment Point mutation in coding region predicting an amino acid substitution ADM_132 commonName Asp439Ala ADM_132 alias NM_000447.1:c.1316A>C ADM_132 protEffect NP_000438.1:p.D439A ADM_132 disease phenotype-associated ADM_132 phenoCommon Alzheimer Disease ADM_132 comment Point mutation in coding region predicting an amino acid substitution ADM_133 commonName "Thr714Ala, Iranian APP" ADM_133 alias NM_000484.2:c.2140A>G ADM_133 protEffect NP_000475.1:p.T714A ADM_133 disease phenotype-associated ADM_133 phenoCommon Alzheimer Disease ADM_133 comment Point mutation in coding region predicting an amino acid substitution ADM_134 commonName Ser130Leu ADM_134 alias NM_000447.1:c.389C>T ADM_134 protEffect NP_000438.1:p.S130L ADM_134 phenoCommon Alzheimer Disease ADM_134 comment Point mutation in coding region predicting an amino acid substitution ADM_135 commonName Leu174Met ADM_135 alias NM_000021.2:c.520C>A ADM_135 protEffect NP_000012.1:p.L174M ADM_135 disease phenotype-associated ADM_135 phenoCommon Alzheimer Disease ADM_135 comment Point mutation in coding region predicting an amino acid substitution ADM_136 commonName Cys92Ser ADM_136 alias NM_000021.2:c.275G>C ADM_136 protEffect NP_000012.1:p.C92S ADM_136 disease phenotype-associated ADM_136 phenoCommon Alzheimer Disease ADM_136 comment Point mutation in coding region predicting an amino acid substitution ADM_137 commonName Leu166Pro ADM_137 alias NM_000021.2:c.497T>C ADM_137 protEffect NP_000012.1:p.L166P ADM_137 disease phenotype-associated ADM_137 phenoCommon Alzheimer Disease ADM_137 comment Point mutation in coding region predicting an amino acid substitution ADM_138 commonName Gly217Asp ADM_138 alias NM_000021.2:c.650G>A ADM_138 protEffect NP_000012.1:p.G217D ADM_138 disease phenotype-associated ADM_138 phenoCommon Alzheimer Disease / Parkinsonism ADM_138 comment Point mutation in coding region predicting an amino acid substitution ADM_139 commonName Ile716Thr ADM_139 alias NM_000484.2:c.2147T>C ADM_139 protEffect NP_000475.1:p.I716T ADM_139 disease phenotype-associated ADM_139 phenoCommon Alzheimer Disease ADM_139 comment Point mutation in coding region predicting an amino acid substitution ADM_140 commonName Val715Ala; German APP ADM_140 alias NM_000484.2:c.2144T>C ADM_140 protEffect NP_000475.1:p.V715A ADM_140 disease phenotype-associated ADM_140 phenoCommon Alzheimer Disease ADM_140 comment Point mutation in coding region predicting an amino acid substitution ADM_141 commonName Ile143Met ADM_141 alias NM_000021.2:c.429T>G ADM_141 protEffect NP_000012.1:p.I143M ADM_141 disease phenotype-associated ADM_141 phenoCommon Alzheimer Disease ADM_141 comment Point mutation in coding region predicting an amino acid substitution ADM_142 commonName Val272Ala ADM_142 alias NM_000021.2:c.815T>C ADM_142 protEffect NP_000012.1:p.V272A ADM_142 disease phenotype-associated ADM_142 phenoCommon Alzheimer Disease / Subcortical dementia / Parkinsonism ADM_142 comment Point mutation in coding region predicting an amino acid substitution ADM_143 commonName Tyr154Cys ADM_143 alias NM_000021.2:c.461A>G ADM_143 protEffect NP_000012.1:p.Y154C ADM_143 disease phenotype-associated ADM_143 phenoCommon Alzheimer Disease ADM_143 comment Point mutation in coding region predicting an amino acid substitution ADM_144 commonName ΔI167 ADM_144 alias NM_000021.2:c.498_500delTAT ADM_144 protEffect NP_000012.1:p.I167del ADM_144 disease phenotype-associated ADM_144 phenoCommon Alzheimer Disease ADM_144 comment Trinucleotide deletion resulting in deletion of 1 amino acid ADM_145 commonName Ile229Phe ADM_145 alias NM_000021.2:c.685A>T ADM_145 protEffect NP_000012.1:p.I229F ADM_145 disease phenotype-associated ADM_145 phenoCommon Alzheimer Disease ADM_145 comment Point mutation in coding region predicting an amino acid substitution ADM_146 commonName Leu235Val ADM_146 alias NM_000021.2:c.703C>G ADM_146 protEffect NP_000012.1:p.L235V ADM_146 disease phenotype-associated ADM_146 phenoCommon Alzheimer Disease ADM_146 comment Point mutation in coding region predicting an amino acid substitution ADM_147 commonName Phe237Leu ADM_147 alias NM_000021.2:c.709T>C ADM_147 protEffect NP_000012.1:p.F237L ADM_147 disease phenotype-associated ADM_147 phenoCommon Alzheimer Disease ADM_147 comment Point mutation in coding region predicting an amino acid substitution ADM_148 commonName Cys263Phe ADM_148 alias NM_000021.2:c.788G>T ADM_148 protEffect NP_000012.1:p.C263F ADM_148 disease phenotype-associated ADM_148 phenoCommon Alzheimer Disease ADM_148 comment Point mutation in coding region predicting an amino acid substitution ADM_149 commonName Arg377Met ADM_149 alias NM_000021.2:c.1130G>T ADM_149 protEffect NP_000012.1:p.R377M ADM_149 disease phenotype-associated ADM_149 phenoCommon Alzheimer Disease ADM_149 comment Point mutation in coding region predicting an amino acid substitution ADM_150 commonName Gly378Val ADM_150 alias NM_000021.2:c.1133G>T ADM_150 protEffect NP_000012.1:p.G378V ADM_150 disease phenotype-associated ADM_150 phenoCommon Alzheimer Disease ADM_150 comment Point mutation in coding region predicting an amino acid substitution ADM_151 commonName Pro117Ser ADM_151 alias NM_000021.2:c.349C>T ADM_151 protEffect NP_000012.1:p.P117S ADM_151 disease phenotype-associated ADM_151 phenoCommon Alzheimer Disease ADM_151 comment Point mutation in coding region predicting an amino acid substitution ADM_152 commonName Arg278Lys ADM_152 alias NM_000021.2:c.833G>A ADM_152 protEffect NP_000012.1:p.R278K ADM_152 disease phenotype-associated ADM_152 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_152 comment Point mutation in coding region predicting an amino acid substitution ADM_153 commonName Glu693Gln; Dutch APP ADM_153 alias NM_000484.2:c.2020G>C ADM_153 protEffect NP_000475.1:p.E693Q ADM_153 disease phenotype-associated ADM_153 phenoCommon HCHWA-D ADM_153 comment Point mutation in coding region predicting an amino acid substitution ADM_154 commonName Val89Leu ADM_154 alias NM_000021.2:c.265G>T ADM_154 protEffect NP_000012.1:p.V89L ADM_154 disease phenotype-associated ADM_154 phenoCommon Alzheimer Disease / Behavioural Disturbances ADM_154 comment Point mutation in coding region predicting an amino acid substitution ADM_155 commonName Ala431Val ADM_155 alias NM_000021.2:c.1292C>T ADM_155 protEffect NP_000012.1:p.A431V ADM_155 disease phenotype-associated ADM_155 phenoCommon Alzheimer Disease ADM_155 comment Point mutation in coding region predicting an amino acid substitution ADM_156 commonName Leu271Val ADM_156 alias NM_000021.2:c.811C>G ADM_156 protEffect NP_000012.1:p.L271V ADM_156 disease phenotype-associated ADM_156 phenoCommon Alzheimer Disease ADM_156 comment Point mutation in coding region predicting an amino acid substitution ADM_157 commonName Pro334Arg ADM_157 alias NM_000447.1:c.1001C>G ADM_157 protEffect NP_000438.1:p.P334R ADM_157 disease not phenotype-associated ADM_157 phenoCommon No Phenotype ADM_157 comment Point mutation in coding region predicting an amino acid substitution ADM_158 commonName Thr430Met ADM_158 alias NM_000447.1:c.1289C>T ADM_158 protEffect NP_000438.1:p.T430M ADM_158 disease phenotype-associated ADM_158 phenoCommon Alzheimer Disease ADM_158 comment Point mutation in coding region predicting an amino acid substitution ADM_159 commonName Ala713Thr ADM_159 protEffect NP_000475.1:p.A713T ADM_159 phenoCommon No Phenotype ADM_159 comment Double point mutation in coding region. The first mutation at codon A713 causes an amino acid change. The second mutation at codon V715 is a silent mutation ADM_160 commonName Ala673Thr ADM_160 alias NM_000484.2:c.2017G>A ADM_160 protEffect NP_000475.1:p.A673T ADM_160 disease not phenotype-associated ADM_160 phenoCommon No Phenotype ADM_160 comment Point mutation in coding region predicting an amino acid substitution ADM_161 commonName Phe175Ser ADM_161 alias NM_000021.2:c.524T>C ADM_161 protEffect NP_000012.1:p.F175S ADM_161 disease not phenotype-associated ADM_161 phenoCommon No Phenotype ADM_161 comment Point mutation in coding region predicting an amino acid substitution ADM_162 commonName Glu665Asp ADM_162 alias NM_000484.2:c.1995G>C ADM_162 protEffect NP_000475.1:p.E665D ADM_162 disease not phenotype-associated ADM_162 phenoCommon No Phenotype ADM_162 comment Point mutation in coding region predicting an amino acid substitution ADM_163 commonName Ala713Val ADM_163 alias NM_000484.2:c.2138C>T ADM_163 protEffect NP_000475.1:p.A713V ADM_163 disease not phenotype-associated ADM_163 phenoCommon No Phenotype ADM_163 comment Point mutation in coding region predicting an amino acid substitution ADM_164 commonName Glu318Gly ADM_164 alias NM_000021.2:c.953A>G ADM_164 protEffect NP_000012.1:p.E318G ADM_164 disease not phenotype-associated ADM_164 phenoCommon No Phenotype ADM_164 comment Point mutation in coding region predicting an amino acid substitution ADM_165 commonName Pro284Leu ADM_165 alias NM_000021.2:c.851C>T ADM_165 protEffect NP_000012.1:p.P284L ADM_165 disease phenotype-associated ADM_165 phenoCommon Alzheimer Disease / Spastic Paraparesis ADM_165 comment Point mutation in coding region predicting an amino acid substitution ADM_166 commonName Gly206Val ADM_166 alias NM_000021.2:c.617G>T ADM_166 protEffect NP_000012.1:p.G206V ADM_166 disease phenotype-associated ADM_166 phenoCommon Alzheimer Disease ADM_166 comment Point mutation in coding region predicting an amino acid substitution ADM_167 commonName Leu250Val ADM_167 alias NM_000021.2:c.748T>G ADM_167 protEffect NP_000012.1:p.L250V ADM_167 disease phenotype-associated ADM_167 phenoCommon Alzheimer Disease / Myoclonus DMD:c.3406A>T protEffect DMD:p.Thr1136Ser ADM_167 comment Point mutation in coding region predicting an amino acid substitution ADM_168 commonName Pro267Leu ADM_168 alias NM_000021.2:c.800C>T ADM_168 protEffect NP_000012.1:p.P267L ADM_168 disease phenotype-associated ADM_168 phenoCommon Alzheimer Disease ADM_168 comment Point mutation in coding region predicting an amino acid substitution ADM_169 commonName Leu424Arg ADM_169 alias NM_000021.2:c.1271T>G ADM_169 protEffect NP_000012.1:p.L424R ADM_169 disease phenotype-associated ADM_169 phenoCommon Alzheimer Disease ADM_169 comment Point mutation in coding region predicting an amino acid substitution ADM_170 commonName Gln222His ADM_170 alias NM_000021.2:c.666G>C ADM_170 protEffect NP_000012.1:p.Q222H ADM_170 disease phenotype-associated ADM_170 phenoCommon Alzheimer Disease ADM_170 comment Point mutation in coding region predicting an amino acid substitution ADM_171 commonName Tyr256Ser ADM_171 alias NM_000021.2:c.767A>C ADM_171 protEffect NP_000012.1:p.Y256S ADM_171 disease phenotype-associated ADM_171 phenoCommon Alzheimer Disease ADM_171 comment Point mutation in coding region predicting an amino acid substitution ADM_172 commonName Arg5His ADM_172 alias BN000503.1:c.14G>A ADM_172 protEffect CAG26750.1:p.R5H ADM_172 disease phenotype-associated ADM_172 phenoCommon Frontotemporal Dementia ADM_172 comment Point mutation in coding region predicting an amino acid substitution ADM_173 commonName Arg5Leu ADM_173 alias BN000503.1:c.14G>T ADM_173 protEffect CAG26750.1:p.R5L ADM_173 disease phenotype-associated ADM_173 phenoCommon Progressive Supranuclear Palsy ADM_173 comment Point mutation in coding region predicting an amino acid substitution ADM_174 commonName Lys257Thr ADM_174 alias BN000503.1:c.1775A>C ADM_174 protEffect CAG26750.1:p.K592T ADM_174 disease phenotype-associated ADM_174 phenoCommon Frontotemporal Dementia ADM_174 comment Point mutation in coding region predicting an amino acid substitution ADM_175 commonName Ile260Val ADM_175 alias BN000503.1:c.1783A>G ADM_175 protEffect CAG26750.1:p.I595V ADM_175 disease phenotype-associated ADM_175 phenoCommon Frontotemporal Dementia ADM_175 comment Point mutation in coding region predicting an amino acid substitution ADM_176 commonName Leu266Val ADM_176 alias BN000503.1:c.1801C>G ADM_176 protEffect CAG26750.1:p.L601V ADM_176 disease phenotype-associated ADM_176 phenoCommon Frontotemporal Dementia ADM_176 comment Point mutation in coding region predicting an amino acid substitution ADM_177 commonName Gly272Val ADM_177 alias BN000503.1:c.1820G>T ADM_177 protEffect CAG26750.1:p.G607V ADM_177 disease phenotype-associated ADM_177 phenoCommon Frontotemporal Dementia ADM_177 comment Point mutation in coding region predicting an amino acid substitution ADM_178 commonName Asn279Lys ADM_178 alias BN000503.1:c.1842T>G ADM_178 protEffect CAG26750.1:p.N614K ADM_178 disease phenotype-associated ADM_178 phenoCommon Frontotemporal Dementia ADM_178 comment Point mutation in coding region predicting an amino acid substitution ADM_179 commonName ΔK280;ΔK281 ADM_179 alias BN000503.1:c.1846_1848delAAG ADM_179 protEffect CAG26750.1:p.deltaK616 ADM_179 phenoCommon Frontotemporal Dementia / Alzheimer Disease ADM_179 comment Trinucleotide deletion resulting in deletion of 1 amino acid ADM_180 commonName Leu284Leu ADM_180 alias BN000503.1:c.1857T>C ADM_180 protEffect CAG26750.1:p.L619L ADM_180 disease phenotype-associated ADM_180 phenoCommon Frontotemporal Dementia ADM_180 comment Silent point mutation in coding region affecting alternative splicing of exon 10 ADM_181 commonName Asn296Asn ADM_181 alias BN000503.1:c.1893T>C ADM_181 protEffect CAG26750.1:p.N631N ADM_181 disease phenotype-associated ADM_181 phenoCommon Frontotemporal Dementia ADM_181 comment Silent point mutation in coding region affecting alternative splicing of exon 10 ADM_182 commonName Asn296His ADM_182 alias BN000503.1:c.1891A>C ADM_182 protEffect CAG26750.1:p.N631H ADM_182 disease phenotype-associated ADM_182 phenoCommon Frontotemporal Dementia ADM_182 comment Point mutation in coding region predicting an amino acid substitution ADM_183 commonName ΔN296 ADM_183 alias BN000503.1:c.1892_1894delATA ADM_183 protEffect CAG26750.1:p.deltaN631 ADM_183 disease phenotype-associated ADM_183 phenoCommon Progressive Supranuclear Palsy ADM_183 comment Trinucleotide deletion resulting in deletion of 1 amino acid ADM_184 commonName Pro301Ser ADM_184 alias BN000503.1:c.1906C>T ADM_184 protEffect CAG26750.1:p.P636S ADM_184 disease phenotype-associated ADM_184 phenoCommon Frontotemporal Dementia ADM_184 comment Point mutation in coding region predicting an amino acid substitution ADM_185 commonName Ser305Ser ADM_185 alias BN000503.1:c.1920T>C ADM_185 protEffect CAG26750.1:p.S640S ADM_185 disease phenotype-associated ADM_185 phenoCommon Frontotemporal Dementia / Progressive Supranuclear Palsy ADM_185 comment Silent point mutation in coding region affecting alternative splicing of exon 10 ADM_186 commonName Ser305Asn ADM_186 alias BN000503.1:c.1919G>A ADM_186 protEffect CAG26750.1:p.S640N ADM_186 disease phenotype-associated ADM_186 phenoCommon Frontotemporal Dementia ADM_186 comment Point mutation in coding region predicting an amino acid substitution ADM_187 commonName Leu315Arg ADM_187 alias BN000503.1:c.1949T>G ADM_187 protEffect CAG26750.1:p.L650R ADM_187 disease phenotype-associated ADM_187 phenoCommon Frontotemporal Dementia ADM_187 comment Point mutation in coding region predicting an amino acid substitution ADM_188 commonName Ser320Phe ADM_188 alias BN000503.1:c.1964C>T ADM_188 protEffect CAG26750.1:p.S655F ADM_188 disease phenotype-associated ADM_188 phenoCommon Frontotemporal Dementia ADM_188 comment Point mutation in coding region predicting an amino acid substitution ADM_189 commonName Val337Met ADM_189 alias BN000503.1:c.2014G>A ADM_189 protEffect CAG26750.1:p.V672M ADM_189 disease phenotype-associated ADM_189 phenoCommon Frontotemporal Dementia ADM_189 comment Point mutation in coding region predicting an amino acid substitution ADM_190 commonName Glu342Val ADM_190 alias BN000503.1:c.2030A>T ADM_190 protEffect CAG26750.1:p.E677V ADM_190 disease phenotype-associated ADM_190 phenoCommon Frontotemporal Dementia ADM_190 comment Point mutation in coding region predicting an amino acid substitution ADM_191 commonName Ser352Leu ADM_191 alias BN000503.1:c.2060C>T ADM_191 protEffect CAG26750.1:p.S687L ADM_191 disease phenotype-associated ADM_191 phenoCommon Respiratory Failure ADM_191 comment Point mutation in coding region predicting an amino acid substitution ADM_192 commonName Lys369Ile ADM_192 alias BN000503.1:c.2111A>T ADM_192 protEffect CAG26750.1:p.K704I ADM_192 disease phenotype-associated ADM_192 phenoCommon Fr