Variants of CFTR located in coding regions
! These entries do not include the mined mutations.| Variation | Location | Effect | Review status | URL |
|---|---|---|---|---|
| p.Met1Val | exon 1 | D | Pathogenic | ClinVar |
| p.Met1Lys | exon 1 | ? | not provided | ClinVar |
| p.Met1Ile | exon 1 | ? | not provided | ClinVar |
| p.Met1Ile | exon 1 | ? | not provided | ClinVar |
| p.Gln2* | exon 1 | ? | not provided | ClinVar |
| p.Ser4* | exon 1 | ? | not provided | ClinVar |
| p.Pro5Leu | exon 1 | D | Likely pathogenic | ClinVar |
| p.Glu7* | exon 1 | D | Pathogenic | ClinVar |
| p.Ser13Phe | exon 1 | ? | not provided | ClinVar |
| p.Lys14* | exon 1 | ? | not provided | ClinVar |
| p.Trp19Cys | exon 2 | ? | not provided | ClinVar |
| p.Leu24Phe | exon 2 | ? | not provided | ClinVar |
| p.Gly27* | exon 2 | ? | not provided | ClinVar |
| p.Gly27Arg | exon 2 | ? | not provided | ClinVar |
| p.Gly27Arg | exon 2 | ? | not provided | ClinVar |
| p.Gly27Glu | exon 2 | ? | not provided | ClinVar |
| p.Gln30* | exon 2 | ? | not provided | ClinVar |
| p.Arg31Cys | exon 2 | ? | Uncertain significance | ClinVar |
| p.Arg31Leu | exon 2 | ? | not provided | ClinVar |
| p.Leu32Pro | exon 2 | ? | not provided | ClinVar |
| p.Tyr38* | exon 2 | D | Likely pathogenic | ClinVar |
| p.Gln39* | exon 2 | D | Pathogenic | ClinVar |
| p.Ser42Phe | exon 2 | D | Likely pathogenic | ClinVar |
| p.Asp44Gly | exon 2 | ? | not provided | ClinVar |
| p.Ala46Asp | exon 2 | ? | not provided | ClinVar |
| p.Ser50Pro | exon 2 | ? | not provided | ClinVar |
| p.Ser50Tyr | exon 2 | ? | not provided | ClinVar |
| p.Glu56Lys | exon 3 | ? | not provided | ClinVar |
| p.Trp57Arg | exon 3 | ? | not provided | ClinVar |
| p.Trp57Gly | exon 3 | ? | not provided | ClinVar |
| p.Trp57* | exon 3 | ? | not provided | ClinVar |
| p.Trp57* | exon 3 | D | Pathogenic | ClinVar |
| p.Asp58Asn | exon 3 | ? | not provided | ClinVar |
| p.Asp58Gly | exon 3 | ? | not provided | ClinVar |
| p.Glu60* | exon 3 | D | Pathogenic | ClinVar |
| p.Pro67Leu | exon 3 | D | Pathogenic | ClinVar |
| p.Lys68Glu | exon 3 | ? | not provided | ClinVar |
| p.Lys68Asn | exon 3 | ? | not provided | ClinVar |
| p.Ala72Asp | exon 3 | ? | not provided | ClinVar |
| p.Arg74Trp | exon 3 | D | Likely pathogenic | ClinVar |
| p.Arg74Gln | exon 3 | ? | Uncertain significance | ClinVar |
| p.Arg75* | exon 3 | D | Pathogenic | ClinVar |
| p.Arg75Gln | exon 3 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Arg75Leu | exon 3 | ? | not provided | ClinVar |
| p.Trp79Arg | exon 3 | ? | not provided | ClinVar |
| p.Trp79* | exon 3 | ? | not provided | ClinVar |
| p.Gly85Glu | exon 3 | D | Pathogenic | ClinVar |
| p.Gly85Val | exon 3 | ? | not provided | ClinVar |
| p.Phe87Ile | exon 3 | ? | not provided | ClinVar |
| p.Phe87Leu | exon 3 | ? | not provided | ClinVar |
| p.Leu88* | exon 3 | ? | not provided | ClinVar |
| p.Leu88* | exon 3 | ? | not provided | ClinVar |
| p.Leu88Ser | exon 3 | ? | not provided | ClinVar |
| p.Tyr89Cys | exon 3 | ? | not provided | ClinVar |
| p.Leu90Ser | exon 3 | ? | not provided | ClinVar |
| p.Gly91Arg | exon 3 | D | Pathogenic | ClinVar |
| p.Glu92* | exon 4 | D | Pathogenic | ClinVar |
| p.Glu92Lys | exon 4 | D | Pathogenic | ClinVar |
| p.Glu92Asp | exon 4 | ? | not provided | ClinVar |
| p.Ala96Glu | exon 4 | ? | not provided | ClinVar |
| p.Gln98* | exon 4 | D | Pathogenic | ClinVar |
| p.Gln98Arg | exon 4 | ? | not provided | ClinVar |
| p.Gln98Pro | exon 4 | ? | not provided | ClinVar |
| p.Pro99Leu | exon 4 | ? | not provided | ClinVar |
| p.Leu101* | exon 4 | ? | not provided | ClinVar |
| p.Leu101Ser | exon 4 | ? | not provided | ClinVar |
| p.Leu102Pro | exon 4 | ? | not provided | ClinVar |
| p.Ile105Asn | exon 4 | ? | not provided | ClinVar |
| p.Ser108Phe | exon 4 | ? | not provided | ClinVar |
| p.Tyr109Asn | exon 4 | ? | not provided | ClinVar |
| p.Tyr109Cys | exon 4 | D | Pathogenic | ClinVar |
| p.Tyr109* | exon 4 | ? | not provided | ClinVar |
| p.Asp110His | exon 4 | D | Pathogenic | ClinVar |
| p.Asp110Tyr | exon 4 | ? | not provided | ClinVar |
| p.Asp110Glu | exon 4 | ? | not provided | ClinVar |
| p.Pro111Ala | exon 4 | ? | not provided | ClinVar |
| p.Pro111Leu | exon 4 | ? | not provided | ClinVar |
| p.Asn113Ile | exon 4 | ? | not provided | ClinVar |
| p.Glu116Gln | exon 4 | ? | not provided | ClinVar |
| p.Glu116Lys | exon 4 | ? | not provided | ClinVar |
| p.Arg117Cys | exon 4 | D | Pathogenic | ClinVar |
| p.Arg117Gly | exon 4 | ? | not provided | ClinVar |
| p.Arg117His | exon 4 | D | Pathogenic | ClinVar |
| p.Arg117Leu | exon 4 | ? | not provided | ClinVar |
| p.Arg117Pro | exon 4 | ? | not provided | ClinVar |
| p.Ile119Val | exon 4 | D | Likely pathogenic | ClinVar |
| p.Ala120Thr | exon 4 | ? | not provided | ClinVar |
| p.Tyr122His | exon 4 | ? | not provided | ClinVar |
| p.Tyr122* | exon 4 | D | Pathogenic | ClinVar |
| p.Gly124Arg | exon 4 | D | Likely pathogenic | ClinVar |
| p.Ile125Thr | exon 4 | ? | not provided | ClinVar |
| p.Gly126Ser | exon 4 | ? | not provided | ClinVar |
| p.Leu127* | exon 4 | ? | not provided | ClinVar |
| p.Leu130Val | exon 4 | ? | not provided | ClinVar |
| p.Leu137Arg | exon 4 | ? | not provided | ClinVar |
| p.Leu137His | exon 4 | ? | not provided | ClinVar |
| p.His139Arg | exon 4 | ? | not provided | ClinVar |
| p.His139Leu | exon 4 | ? | not provided | ClinVar |
| p.Pro140Ser | exon 4 | ? | not provided | ClinVar |
| p.Pro140Leu | exon 4 | ? | not provided | ClinVar |
| p.Ala141Asp | exon 4 | ? | not provided | ClinVar |
| p.Leu145His | exon 4 | ? | not provided | ClinVar |
| p.His146Arg | exon 4 | ? | not provided | ClinVar |
| p.Ile148Asn | exon 4 | ? | not provided | ClinVar |
| p.Ile148Thr | exon 4 | N | Benign | ClinVar |
| p.Gly149Arg | exon 4 | ? | not provided | ClinVar |
| p.Gly149Val | exon 4 | ? | not provided | ClinVar |
| p.Gln151Lys | exon 4 | ? | not provided | ClinVar |
| p.Met152Val | exon 4 | ? | not provided | ClinVar |
| p.Met152Arg | exon 4 | ? | not provided | ClinVar |
| p.Ala155Pro | exon 4 | ? | not provided | ClinVar |
| p.Ser158Arg | exon 4 | ? | not provided | ClinVar |
| p.Ser158Thr | exon 4 | ? | not provided | ClinVar |
| p.Leu159* | exon 4 | ? | not provided | ClinVar |
| p.Leu159Ser | exon 4 | ? | not provided | ClinVar |
| p.Ile160= | exon 4 | ? | not provided | ClinVar |
| p.Tyr161Asn | exon 4 | ? | not provided | ClinVar |
| p.Tyr161Asp | exon 4 | ? | not provided | ClinVar |
| p.Tyr161Cys | exon 4 | ? | not provided | ClinVar |
| p.Tyr161Ser | exon 4 | ? | not provided | ClinVar |
| p.Lys162Glu | exon 4 | ? | not provided | ClinVar |
| p.Lys163= | exon 4 | ? | not provided | ClinVar |
| p.Leu165Ser | exon 5 | ? | not provided | ClinVar |
| p.Lys166Glu | exon 5 | ? | not provided | ClinVar |
| p.Leu167Arg | exon 5 | ? | not provided | ClinVar |
| p.Arg170His | exon 5 | ? | Uncertain significance | ClinVar |
| p.Ile175Val | exon 5 | ? | not provided | ClinVar |
| p.Ile177Thr | exon 5 | ? | not provided | ClinVar |
| p.Gly178Arg | exon 5 | D | Pathogenic | ClinVar |
| p.Gly178Glu | exon 5 | ? | not provided | ClinVar |
| p.Gln179Lys | exon 5 | ? | not provided | ClinVar |
| p.Leu183Ile | exon 5 | ? | not provided | ClinVar |
| p.Asn186Lys | exon 5 | ? | not provided | ClinVar |
| p.Asn189Lys | exon 5 | ? | not provided | ClinVar |
| p.Asp192Asn | exon 5 | ? | not provided | ClinVar |
| p.Asp192Gly | exon 5 | ? | not provided | ClinVar |
| p.Glu193* | exon 5 | D | Pathogenic/Likely pathogenic, not provided | ClinVar |
| p.Glu193Lys | exon 5 | ? | not provided | ClinVar |
| p.Gly194Val | exon 6 | ? | not provided | ClinVar |
| p.Ala198Pro | exon 6 | ? | not provided | ClinVar |
| p.Ala198Thr | exon 6 | D | Likely pathogenic | ClinVar |
| p.His199Tyr | exon 6 | D | Pathogenic | ClinVar |
| p.His199Arg | exon 6 | ? | not provided | ClinVar |
| p.His199Gln | exon 6 | ? | not provided | ClinVar |
| p.Phe200Ile | exon 6 | ? | not provided | ClinVar |
| p.Val201Met | exon 6 | ? | not provided | ClinVar |
| p.Trp202* | exon 6 | ? | not provided | ClinVar |
| p.Ile203Met | exon 6 | ? | not provided | ClinVar |
| p.Pro205Ser | exon 6 | D | Pathogenic | ClinVar |
| p.Pro205Arg | exon 6 | ? | not provided | ClinVar |
| p.Leu206Trp | exon 6 | D | Pathogenic | ClinVar |
| p.Leu206Phe | exon 6 | ? | not provided | ClinVar |
| p.Gln207* | exon 6 | ? | not provided | ClinVar |
| p.Ala209Ser | exon 6 | ? | not provided | ClinVar |
| p.Ala209= | exon 6 | ? | not provided | ClinVar |
| p.Trp216* | exon 6 | ? | not provided | ClinVar |
| p.Trp216Cys | exon 6 | ? | not provided | ClinVar |
| p.Glu217Gly | exon 6 | D | Pathogenic | ClinVar |
| p.Leu218* | exon 6 | ? | not provided | ClinVar |
| p.Gln220* | exon 6 | D | Pathogenic | ClinVar |
| p.Gln220Arg | exon 6 | ? | not provided | ClinVar |
| p.Cys225Arg | exon 6 | ? | not provided | ClinVar |
| p.Cys225* | exon 6 | ? | not provided | ClinVar |
| p.Leu227Arg | exon 6 | ? | not provided | ClinVar |
| p.Val232Asp | exon 6 | ? | not provided | ClinVar |
| p.Gln237Glu | exon 6 | ? | not provided | ClinVar |
| p.Gln237His | exon 6 | ? | not provided | ClinVar |
| p.Ala238Val | exon 6 | ? | not provided | ClinVar |
| p.Gly239Arg | exon 6 | ? | not provided | ClinVar |
| p.Gly241Arg | exon 6 | ? | not provided | ClinVar |
| p.Met244Lys | exon 6 | ? | not provided | ClinVar |
| p.Tyr247* | exon 6 | ? | not provided | ClinVar |
| p.Arg248Thr | exon 6 | ? | not provided | ClinVar |
| p.Arg258Gly | exon 7 | ? | not provided | ClinVar |
| p.Met265Arg | exon 7 | ? | not provided | ClinVar |
| p.Tyr275* | exon 7 | D | Likely pathogenic | ClinVar |
| p.Cys276* | exon 7 | D | Likely pathogenic | ClinVar |
| p.Trp277Arg | exon 7 | ? | not provided | ClinVar |
| p.Trp277* | exon 7 | D | Pathogenic | ClinVar |
| p.Met281Thr | exon 7 | ? | not provided | ClinVar |
| p.Glu282Asp | exon 7 | D | Likely pathogenic | ClinVar |
| p.Ile285Phe | exon 7 | D | Likely pathogenic | ClinVar |
| p.Asn287Tyr | exon 7 | ? | not provided | ClinVar |
| p.Asn287Lys | exon 7 | ? | not provided | ClinVar |
| p.Gln290* | exon 7 | ? | not provided | ClinVar |
| p.Glu292Lys | exon 8 | ? | not provided | ClinVar |
| p.Leu293Met | exon 8 | ? | not provided | ClinVar |
| p.Arg297Trp | exon 8 | ? | not provided | ClinVar |
| p.Arg297Gln | exon 8 | N | Benign/Likely benign | ClinVar |
| p.Tyr301Cys | exon 8 | ? | Uncertain significance | ClinVar |
| p.Tyr304* | exon 8 | ? | not provided | ClinVar |
| p.Phe305Val | exon 8 | ? | not provided | ClinVar |
| p.Ser307Asn | exon 8 | ? | not provided | ClinVar |
| p.Ala309Gly | exon 8 | ? | not provided | ClinVar |
| p.Phe311Leu | exon 8 | D | Pathogenic | ClinVar |
| p.Gly314Arg | exon 8 | ? | not provided | ClinVar |
| p.Gly314Glu | exon 8 | ? | not provided | ClinVar |
| p.Gly314Val | exon 8 | ? | not provided | ClinVar |
| p.Leu320Val | exon 8 | D | Likely pathogenic | ClinVar |
| p.Leu320* | exon 8 | ? | not provided | ClinVar |
| p.Leu320Phe | exon 8 | ? | not provided | ClinVar |
| p.Val322Met | exon 8 | ? | Uncertain significance | ClinVar |
| p.Pro324Leu | exon 8 | ? | not provided | ClinVar |
| p.Gly330* | exon 8 | D | Pathogenic | ClinVar |
| p.Ile331Asn | exon 8 | ? | not provided | ClinVar |
| p.Leu333Phe | exon 8 | D | Likely pathogenic | ClinVar |
| p.Arg334Trp | exon 8 | D | Pathogenic | ClinVar |
| p.Arg334Gln | exon 8 | ? | not provided | ClinVar |
| p.Arg334Leu | exon 8 | ? | not provided | ClinVar |
| p.Ile336Lys | exon 8 | D | Pathogenic | ClinVar |
| p.Thr338Ala | exon 8 | ? | not provided | ClinVar |
| p.Thr338Ile | exon 8 | D | Pathogenic | ClinVar |
| p.Ser341Pro | exon 8 | D | Pathogenic | ClinVar |
| p.Leu346Pro | exon 8 | ? | not provided | ClinVar |
| p.Arg347Cys | exon 8 | ? | not provided | ClinVar |
| p.Arg347His | exon 8 | D | Pathogenic | ClinVar |
| p.Arg347Leu | exon 8 | D | Pathogenic | ClinVar |
| p.Arg347Pro | exon 8 | D | Pathogenic | ClinVar |
| p.Met348Lys | exon 8 | ? | not provided | ClinVar |
| p.Ala349Val | exon 8 | D | Pathogenic | ClinVar |
| p.Thr351Ser | exon 8 | ? | not provided | ClinVar |
| p.Arg352Trp | exon 8 | D | Likely pathogenic | ClinVar |
| p.Arg352Gln | exon 8 | D | Pathogenic | ClinVar |
| p.Gln353* | exon 8 | ? | not provided | ClinVar |
| p.Gln353His | exon 8 | ? | not provided | ClinVar |
| p.Trp356* | exon 8 | ? | not provided | ClinVar |
| p.Gln359Arg | exon 8 | ? | not provided | ClinVar |
| p.Thr360Arg | exon 8 | ? | not provided | ClinVar |
| p.Trp361Arg | exon 8 | ? | not provided | ClinVar |
| p.Trp361Arg | exon 8 | ? | not provided | ClinVar |
| p.Tyr362* | exon 8 | ? | not provided | ClinVar |
| p.Tyr362* | exon 8 | ? | not provided | ClinVar |
| p.Ser364Pro | exon 8 | ? | not provided | ClinVar |
| p.Leu365Pro | exon 8 | ? | not provided | ClinVar |
| p.Asp373Asn | exon 9 | D | Pathogenic | ClinVar |
| p.Leu375Phe | exon 9 | ? | not provided | ClinVar |
| p.Glu379* | exon 9 | ? | not provided | ClinVar |
| p.Glu379Lys | exon 9 | ? | not provided | ClinVar |
| p.Leu383Ser | exon 9 | ? | not provided | ClinVar |
| p.Val392Ala | exon 9 | ? | not provided | ClinVar |
| p.Val392Gly | exon 9 | ? | not provided | ClinVar |
| p.Met394Arg | exon 9 | ? | not provided | ClinVar |
| p.Ala399Asp | exon 9 | ? | not provided | ClinVar |
| p.Trp401* | exon 9 | D | Pathogenic | ClinVar |
| p.Trp401* | exon 9 | D | Pathogenic | ClinVar |
| p.Glu403= | exon 9 | ? | not provided | ClinVar |
| p.Glu403Asp | exon 9 | ? | not provided | ClinVar |
| p.Glu407Val | exon 10 | ? | not provided | ClinVar |
| p.Gln414* | exon 10 | ? | not provided | ClinVar |
| p.Asn417Lys | exon 10 | N | Benign | ClinVar |
| p.Asn418Ser | exon 10 | ? | not provided | ClinVar |
| p.Asn418= | exon 10 | N | Benign | ClinVar |
| p.Thr438Ala | exon 10 | ? | Uncertain significance | ClinVar |
| p.Pro439Ser | exon 10 | ? | not provided | ClinVar |
| p.Leu441Pro | exon 10 | ? | not provided | ClinVar |
| p.Asp443Tyr | exon 10 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Ile444Ser | exon 10 | ? | not provided | ClinVar |
| p.Gln452Pro | exon 10 | ? | not provided | ClinVar |
| p.Ala455Glu | exon 10 | D | Pathogenic | ClinVar |
| p.Ala455= | exon 10 | N | Likely benign | ClinVar |
| p.Ala455= | exon 10 | ? | Uncertain significance | ClinVar |
| p.Val456Phe | exon 10 | ? | not provided | ClinVar |
| p.Val456Ala | exon 10 | D | Likely pathogenic | ClinVar |
| p.Gly458Val | exon 10 | D | Pathogenic | ClinVar |
| p.Lys464Asn | exon 10 | ? | not provided | ClinVar |
| p.Ser466* | exon 11 | D | Pathogenic | ClinVar |
| p.Ser466* | exon 11 | D | Pathogenic | ClinVar |
| p.Ser466Leu | exon 11 | ? | not provided | ClinVar |
| p.Leu467Phe | exon 11 | ? | not provided | ClinVar |
| p.Leu467Pro | exon 11 | D | Pathogenic | ClinVar |
| p.Leu468Pro | exon 11 | ? | not provided | ClinVar |
| p.Met469Val | exon 11 | ? | not provided | ClinVar |
| p.Met469Ile | exon 11 | ? | not provided | ClinVar |
| p.Val470Met | exon 11 | N | Benign/Likely benign | ClinVar |
| p.Glu479* | exon 11 | ? | not provided | ClinVar |
| p.Gly480Cys | exon 11 | D | Pathogenic | ClinVar |
| p.Gly480Ser | exon 11 | ? | not provided | ClinVar |
| p.Gly480Asp | exon 11 | ? | not provided | ClinVar |
| p.His484Tyr | exon 11 | ? | not provided | ClinVar |
| p.Ser485Cys | exon 11 | ? | not provided | ClinVar |
| p.Ser489* | exon 11 | D | Pathogenic | ClinVar |
| p.Cys491Arg | exon 11 | ? | not provided | ClinVar |
| p.Ser492Phe | exon 11 | D | Pathogenic | ClinVar |
| p.Gln493* | exon 11 | D | Pathogenic | ClinVar |
| p.Gln493Arg | exon 11 | ? | not provided | ClinVar |
| p.Gln493Pro | exon 11 | ? | not provided | ClinVar |
| p.Trp496* | exon 11 | ? | not provided | ClinVar |
| p.Met498Ile | exon 11 | ? | not provided | ClinVar |
| p.Pro499Ala | exon 11 | ? | not provided | ClinVar |
| p.Thr501Ala | exon 11 | ? | not provided | ClinVar |
| p.Ile502Asn | exon 11 | ? | not provided | ClinVar |
| p.Ile502Thr | exon 11 | ? | not provided | ClinVar |
| p.Glu504* | exon 11 | ? | not provided | ClinVar |
| p.Glu504Gln | exon 11 | ? | not provided | ClinVar |
| p.Ile506Leu | exon 11 | ? | not provided | ClinVar |
| p.Ile506Val | exon 11 | N | Benign | ClinVar |
| p.Ile506Ser | exon 11 | ? | not provided | ClinVar |
| p.Ile506Thr | exon 11 | ? | not provided | ClinVar |
| p.Ile506Met | exon 11 | ? | not provided | ClinVar |
| p.Ile507Val | exon 11 | N | Likely benign | ClinVar |
| p.Phe508Cys | exon 11 | N | Benign | ClinVar |
| p.Phe508Ser | exon 11 | ? | not provided | ClinVar |
| p.Asp513Gly | exon 11 | ? | not provided | ClinVar |
| p.Arg516Gly | exon 11 | ? | not provided | ClinVar |
| p.Val520Ile | exon 11 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Val520Phe | exon 11 | D | Pathogenic | ClinVar |
| p.Cys524* | exon 11 | D | Pathogenic | ClinVar |
| p.Gln525* | exon 11 | ? | not provided | ClinVar |
| p.Glu527Gln | exon 11 | ? | not provided | ClinVar |
| p.Glu527= | exon 11 | N | Benign | ClinVar |
| p.Glu528= | exon 11 | N | Benign | ClinVar |
| p.Glu528Asp | exon 11 | ? | not provided | ClinVar |
| p.Asp529His | exon 12 | ? | not provided | ClinVar |
| p.Asp529Gly | exon 12 | ? | not provided | ClinVar |
| p.Ile530Leu | exon 12 | ? | not provided | ClinVar |
| p.Phe533Leu | exon 12 | ? | not provided | ClinVar |
| p.Ala534Glu | exon 12 | D | Pathogenic | ClinVar |
| p.Lys536* | exon 12 | ? | not provided | ClinVar |
| p.Asp537Glu | exon 12 | ? | not provided | ClinVar |
| p.Gly542* | exon 12 | D | Pathogenic | ClinVar |
| p.Gly544Val | exon 12 | ? | not provided | ClinVar |
| p.Ser549Arg | exon 12 | D | Pathogenic | ClinVar |
| p.Ser549Ile | exon 12 | D | Pathogenic | ClinVar |
| p.Ser549Arg | exon 12 | D | Pathogenic | ClinVar |
| p.Gly550* | exon 12 | ? | not provided | ClinVar |
| p.Gly550Arg | exon 12 | ? | not provided | ClinVar |
| p.Gly551Ser | exon 12 | D | Pathogenic | ClinVar |
| p.Gly551Asp | exon 12 | D | Pathogenic | ClinVar |
| p.Gln552* | exon 12 | D | Pathogenic | ClinVar |
| p.Arg553* | exon 12 | D | Pathogenic | ClinVar |
| p.Arg553Gly | exon 12 | ? | not provided | ClinVar |
| p.Arg553Gln | exon 12 | D | Pathogenic | ClinVar |
| p.Arg555Gly | exon 12 | ? | not provided | ClinVar |
| p.Ile556Val | exon 12 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Leu558Ser | exon 12 | D | Likely pathogenic | ClinVar |
| p.Ala559Thr | exon 12 | D | Pathogenic | ClinVar |
| p.Ala559Glu | exon 12 | ? | not provided | ClinVar |
| p.Ala559Val | exon 12 | ? | not provided | ClinVar |
| p.Arg560Gly | exon 12 | ? | not provided | ClinVar |
| p.Arg560Lys | exon 12 | D | Pathogenic | ClinVar |
| p.Arg560Thr | exon 12 | D | Pathogenic | ClinVar |
| p.Arg560Ser | exon 13 | ? | not provided | ClinVar |
| p.Ala561Glu | exon 13 | D | Pathogenic | ClinVar |
| p.Val562Ile | exon 13 | ? | Uncertain significance | ClinVar |
| p.Val562Leu | exon 13 | ? | not provided | ClinVar |
| p.Tyr563Asn | exon 13 | D | Pathogenic | ClinVar |
| p.Tyr563Asp | exon 13 | ? | not provided | ClinVar |
| p.Asp565Gly | exon 13 | ? | not provided | ClinVar |
| p.Ala566Thr | exon 13 | ? | not provided | ClinVar |
| p.Leu568* | exon 13 | ? | not provided | ClinVar |
| p.Leu568Phe | exon 13 | ? | not provided | ClinVar |
| p.Tyr569Asp | exon 13 | ? | not provided | ClinVar |
| p.Tyr569His | exon 13 | ? | not provided | ClinVar |
| p.Tyr569Cys | exon 13 | ? | not provided | ClinVar |
| p.Tyr569* | exon 13 | ? | not provided | ClinVar |
| p.Leu571Ser | exon 13 | ? | not provided | ClinVar |
| p.Asp572Asn | exon 13 | ? | not provided | ClinVar |
| p.Pro574Ser | exon 13 | ? | not provided | ClinVar |
| p.Pro574His | exon 13 | D | Pathogenic | ClinVar |
| p.Gly576* | exon 13 | ? | not provided | ClinVar |
| p.Gly576Ala | exon 13 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Tyr577Phe | exon 13 | ? | not provided | ClinVar |
| p.Tyr577= | exon 13 | D | Likely pathogenic | ClinVar |
| p.Asp579Tyr | exon 13 | ? | not provided | ClinVar |
| p.Asp579Ala | exon 13 | ? | not provided | ClinVar |
| p.Asp579Gly | exon 13 | ? | not provided | ClinVar |
| p.Thr582Ser | exon 13 | ? | not provided | ClinVar |
| p.Thr582Arg | exon 13 | ? | not provided | ClinVar |
| p.Thr582Ile | exon 13 | ? | not provided | ClinVar |
| p.Glu585* | exon 13 | D | Pathogenic | ClinVar |
| p.Glu588Val | exon 13 | ? | not provided | ClinVar |
| p.Ser589Asn | exon 13 | ? | not provided | ClinVar |
| p.Ser589Ile | exon 13 | ? | not provided | ClinVar |
| p.Ser589Thr | exon 13 | ? | not provided | ClinVar |
| p.Lys598* | exon 14 | ? | not provided | ClinVar |
| p.Thr599= | exon 14 | ? | not provided | ClinVar |
| p.Arg600Gly | exon 14 | ? | not provided | ClinVar |
| p.Ile601Phe | exon 14 | ? | not provided | ClinVar |
| p.Ile601Thr | exon 14 | ? | not provided | ClinVar |
| p.Val603Phe | exon 14 | ? | not provided | ClinVar |
| p.Thr604Ile | exon 14 | ? | not provided | ClinVar |
| p.Thr604Ser | exon 14 | ? | not provided | ClinVar |
| p.Glu608Gly | exon 14 | ? | not provided | ClinVar |
| p.His609Arg | exon 14 | ? | not provided | ClinVar |
| p.His609Leu | exon 14 | ? | not provided | ClinVar |
| p.Leu610Ser | exon 14 | ? | not provided | ClinVar |
| p.Ala613Thr | exon 14 | ? | not provided | ClinVar |
| p.Asp614Tyr | exon 14 | ? | not provided | ClinVar |
| p.Ile618Thr | exon 14 | D | Pathogenic | ClinVar |
| p.Leu619Ser | exon 14 | ? | not provided | ClinVar |
| p.His620Pro | exon 14 | ? | not provided | ClinVar |
| p.His620Gln | exon 14 | ? | not provided | ClinVar |
| p.Gly622Asp | exon 14 | D | Likely pathogenic | ClinVar |
| p.Gly628Arg | exon 14 | ? | not provided | ClinVar |
| p.Gly628Arg | exon 14 | ? | not provided | ClinVar |
| p.Leu633Ile | exon 14 | ? | not provided | ClinVar |
| p.Leu633Pro | exon 14 | ? | not provided | ClinVar |
| p.Gln634* | exon 14 | ? | not provided | ClinVar |
| p.Gln637* | exon 14 | ? | not provided | ClinVar |
| p.Asp639Tyr | exon 14 | ? | not provided | ClinVar |
| p.Asp648Val | exon 14 | D | Pathogenic | ClinVar |
| p.Glu656* | exon 14 | ? | not provided | ClinVar |
| p.Glu664* | exon 14 | ? | not provided | ClinVar |
| p.Arg668Cys | exon 14 | ? | Uncertain significance | ClinVar |
| p.Gly673* | exon 14 | ? | not provided | ClinVar |
| p.Trp679* | exon 14 | D | Likely pathogenic | ClinVar |
| p.Gln685* | exon 14 | ? | not provided | ClinVar |
| p.Glu692* | exon 14 | ? | not provided | ClinVar |
| p.Phe693Leu | exon 14 | ? | not provided | ClinVar |
| p.Phe693Leu | exon 14 | ? | Uncertain significance | ClinVar |
| p.Lys696Arg | exon 14 | ? | not provided | ClinVar |
| p.Arg709* | exon 14 | D | Pathogenic | ClinVar |
| p.Arg709Gln | exon 14 | ? | not provided | ClinVar |
| p.Lys710* | exon 14 | D | Pathogenic | ClinVar |
| p.Gln715* | exon 14 | ? | not provided | ClinVar |
| p.Lys716* | exon 14 | D | Pathogenic | ClinVar |
| p.Leu719* | exon 14 | ? | not provided | ClinVar |
| p.Gln720* | exon 14 | ? | not provided | ClinVar |
| p.Gly723Val | exon 14 | ? | not provided | ClinVar |
| p.Glu725Lys | exon 14 | ? | not provided | ClinVar |
| p.Glu730* | exon 14 | ? | not provided | ClinVar |
| p.Leu732* | exon 14 | D | Pathogenic | ClinVar |
| p.Arg735Lys | exon 14 | ? | not provided | ClinVar |
| p.Ser737Phe | exon 14 | ? | not provided | ClinVar |
| p.Gly745* | exon 14 | ? | not provided | ClinVar |
| p.Pro750Leu | exon 14 | ? | Uncertain significance | ClinVar |
| p.Arg751Pro | exon 14 | ? | not provided | ClinVar |
| p.Ser753= | exon 14 | ? | not provided | ClinVar |
| p.Ser753Arg | exon 14 | ? | not provided | ClinVar |
| p.Val754Met | exon 14 | ? | not provided | ClinVar |
| p.Thr760Met | exon 14 | ? | not provided | ClinVar |
| p.Gln762His | exon 14 | ? | not provided | ClinVar |
| p.Arg764* | exon 14 | D | Pathogenic | ClinVar |
| p.Arg766Met | exon 14 | ? | not provided | ClinVar |
| p.Ser776* | exon 14 | ? | not provided | ClinVar |
| p.Gln781* | exon 14 | ? | not provided | ClinVar |
| p.Asn782Lys | exon 14 | ? | not provided | ClinVar |
| p.Arg785* | exon 14 | ? | not provided | ClinVar |
| p.Arg792* | exon 14 | ? | not provided | ClinVar |
| p.Arg792Gly | exon 14 | D | Likely pathogenic | ClinVar |
| p.Pro798Ser | exon 14 | ? | Uncertain significance | ClinVar |
| p.Ala800Gly | exon 14 | ? | not provided | ClinVar |
| p.Glu804Val | exon 14 | ? | not provided | ClinVar |
| p.Asp806Gly | exon 14 | ? | not provided | ClinVar |
| p.Ile807Met | exon 14 | ? | Uncertain significance | ClinVar |
| p.Arg810Gly | exon 14 | ? | not provided | ClinVar |
| p.Gln814* | exon 14 | ? | not provided | ClinVar |
| p.Glu815* | exon 14 | D | Pathogenic | ClinVar |
| p.Glu822* | exon 14 | D | Pathogenic | ClinVar |
| p.Glu822Lys | exon 14 | ? | not provided | ClinVar |
| p.Glu823* | exon 14 | ? | not provided | ClinVar |
| p.Glu826Lys | exon 14 | ? | not provided | ClinVar |
| p.Glu827* | exon 14 | D | Pathogenic | ClinVar |
| p.Lys830* | exon 14 | ? | not provided | ClinVar |
| p.Glu831* | exon 15 | D | Pathogenic | ClinVar |
| p.Cys832* | exon 15 | ? | not provided | ClinVar |
| p.Asp836Tyr | exon 15 | ? | not provided | ClinVar |
| p.Pro841Arg | exon 15 | ? | not provided | ClinVar |
| p.Trp846* | exon 15 | D | Pathogenic | ClinVar |
| p.Trp846* | exon 15 | D | Pathogenic | ClinVar |
| p.Tyr849* | exon 15 | ? | not provided | ClinVar |
| p.Arg851* | exon 15 | D | Pathogenic | ClinVar |
| p.Arg851Leu | exon 15 | ? | not provided | ClinVar |
| p.Thr854= | exon 15 | N | Benign/Likely benign | ClinVar |
| p.Val855Ile | exon 15 | ? | not provided | ClinVar |
| p.Lys857= | exon 15 | ? | not provided | ClinVar |
| p.Cys866Tyr | exon 15 | D | Likely pathogenic | ClinVar |
| p.Leu867* | exon 15 | ? | not provided | ClinVar |
| p.Glu873= | exon 15 | ? | not provided | ClinVar |
| p.Trp882* | exon 16 | ? | not provided | ClinVar |
| p.Gln890* | exon 17 | D | Pathogenic | ClinVar |
| p.Gln890Arg | exon 17 | ? | not provided | ClinVar |
| p.Gly893= | exon 17 | ? | not provided | ClinVar |
| p.Ser895Asn | exon 17 | ? | not provided | ClinVar |
| p.Asn900Lys | exon 17 | D | Pathogenic | ClinVar |
| p.Ser902Arg | exon 17 | ? | not provided | ClinVar |
| p.Thr908Asn | exon 17 | ? | not provided | ClinVar |
| p.Ser912* | exon 17 | ? | not provided | ClinVar |
| p.Ser912Leu | exon 17 | N | Benign | ClinVar |
| p.Ser912= | exon 17 | ? | Uncertain significance | ClinVar |
| p.Tyr913Cys | exon 17 | D | Pathogenic | ClinVar |
| p.Tyr913* | exon 17 | ? | not provided | ClinVar |
| p.Tyr917Asp | exon 17 | ? | not provided | ClinVar |
| p.Tyr917Cys | exon 17 | ? | not provided | ClinVar |
| p.Ile918Met | exon 17 | ? | not provided | ClinVar |
| p.Tyr919Cys | exon 17 | ? | not provided | ClinVar |
| p.Val920Leu | exon 17 | ? | not provided | ClinVar |
| p.Val920Met | exon 17 | ? | not provided | ClinVar |
| p.Gly921Glu | exon 17 | ? | Uncertain significance | ClinVar |
| p.Ala923Asp | exon 17 | D | Likely pathogenic | ClinVar |
| p.Ala923= | exon 17 | ? | Uncertain significance | ClinVar |
| p.Asp924Asn | exon 17 | ? | not provided | ClinVar |
| p.Leu927Pro | exon 17 | D | Pathogenic | ClinVar |
| p.Arg933Gly | exon 17 | ? | not provided | ClinVar |
| p.Arg933Ser | exon 17 | ? | not provided | ClinVar |
| p.Pro936= | exon 17 | ? | not provided | ClinVar |
| p.Val938Gly | exon 17 | D | Likely pathogenic | ClinVar |
| p.His939Asp | exon 17 | ? | not provided | ClinVar |
| p.His939Arg | exon 17 | ? | not provided | ClinVar |
| p.Thr940= | exon 17 | ? | Uncertain significance | ClinVar |
| p.Val944= | exon 17 | N | Likely benign | ClinVar |
| p.Ser945Leu | exon 17 | D | Pathogenic | ClinVar |
| p.Ser945= | exon 17 | N | Likely benign | ClinVar |
| p.Lys946* | exon 17 | ? | not provided | ClinVar |
| p.His949Tyr | exon 17 | D | Pathogenic | ClinVar |
| p.His949Arg | exon 17 | ? | not provided | ClinVar |
| p.His949Leu | exon 17 | ? | not provided | ClinVar |
| p.Met952Thr | exon 17 | ? | not provided | ClinVar |
| p.Met952Ile | exon 17 | ? | not provided | ClinVar |
| p.His954Pro | exon 17 | ? | not provided | ClinVar |
| p.Ala959Val | exon 17 | ? | not provided | ClinVar |
| p.Met961Ile | exon 17 | ? | not provided | ClinVar |
| p.Thr966= | exon 17 | N | Benign/Likely benign | ClinVar |
| p.Gly970Arg | exon 17 | D | Pathogenic | ClinVar |
| p.Gly970Ser | exon 17 | ? | not provided | ClinVar |
| p.Gly970Asp | exon 18 | D | Likely pathogenic | ClinVar |
| p.Leu973His | exon 18 | ? | not provided | ClinVar |
| p.Leu973Pro | exon 18 | ? | not provided | ClinVar |
| p.Ser977Pro | exon 18 | ? | not provided | ClinVar |
| p.Ser977Phe | exon 18 | ? | not provided | ClinVar |
| p.Lys978* | exon 18 | D | Likely pathogenic | ClinVar |
| p.Asp979Ala | exon 18 | ? | not provided | ClinVar |
| p.Asp979Val | exon 18 | ? | not provided | ClinVar |
| p.Ile980Lys | exon 18 | ? | not provided | ClinVar |
| p.Asp985His | exon 18 | ? | not provided | ClinVar |
| p.Asp985Tyr | exon 18 | ? | not provided | ClinVar |
| p.Asp993Tyr | exon 18 | ? | not provided | ClinVar |
| p.Gln996= | exon 18 | D | Pathogenic | ClinVar |
| p.Leu997Phe | exon 19 | D | Pathogenic, not provided, risk factor | ClinVar |
| p.Gly1003* | exon 19 | ? | not provided | ClinVar |
| p.Gly1003Glu | exon 19 | ? | not provided | ClinVar |
| p.Ile1005Arg | exon 19 | ? | not provided | ClinVar |
| p.Ala1006Glu | exon 19 | ? | not provided | ClinVar |
| p.Val1008Asp | exon 19 | ? | not provided | ClinVar |
| p.Val1008= | exon 19 | ? | Uncertain significance | ClinVar |
| p.Ala1009Thr | exon 19 | ? | Uncertain significance | ClinVar |
| p.Pro1013His | exon 19 | D | Likely pathogenic | ClinVar |
| p.Pro1013Leu | exon 19 | ? | not provided | ClinVar |
| p.Tyr1014Cys | exon 19 | ? | Uncertain significance | ClinVar |
| p.Phe1016Ser | exon 19 | ? | not provided | ClinVar |
| p.Val1020Glu | exon 19 | ? | not provided | ClinVar |
| p.Pro1021Ser | exon 19 | ? | not provided | ClinVar |
| p.Ile1027Thr | exon 19 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Met1028Arg | exon 19 | ? | not provided | ClinVar |
| p.Met1028Ile | exon 19 | ? | not provided | ClinVar |
| p.Tyr1032Asn | exon 19 | ? | not provided | ClinVar |
| p.Tyr1032Cys | exon 19 | D | Likely pathogenic | ClinVar |
| p.Thr1036Asn | exon 19 | ? | not provided | ClinVar |
| p.Gln1042* | exon 19 | ? | not provided | ClinVar |
| p.Glu1044Gly | exon 19 | ? | not provided | ClinVar |
| p.Gly1047Arg | exon 19 | ? | not provided | ClinVar |
| p.Gly1047Asp | exon 20 | ? | not provided | ClinVar |
| p.Phe1052Val | exon 20 | D | Likely pathogenic | ClinVar |
| p.Thr1053Ile | exon 20 | ? | not provided | ClinVar |
| p.His1054Asp | exon 20 | ? | not provided | ClinVar |
| p.Thr1057Ala | exon 20 | ? | not provided | ClinVar |
| p.Leu1059* | exon 20 | ? | not provided | ClinVar |
| p.Leu1059= | exon 20 | ? | not provided | ClinVar |
| p.Lys1060Thr | exon 20 | ? | not provided | ClinVar |
| p.Gly1061Arg | exon 20 | ? | Uncertain significance | ClinVar |
| p.Trp1063* | exon 20 | ? | not provided | ClinVar |
| p.Leu1065Phe | exon 20 | ? | not provided | ClinVar |
| p.Leu1065Arg | exon 20 | ? | not provided | ClinVar |
| p.Leu1065Pro | exon 20 | D | Pathogenic | ClinVar |
| p.Arg1066Cys | exon 20 | D | Pathogenic | ClinVar |
| p.Arg1066Ser | exon 20 | ? | not provided | ClinVar |
| p.Arg1066His | exon 20 | D | Pathogenic | ClinVar |
| p.Arg1066Leu | exon 20 | ? | not provided | ClinVar |
| p.Ala1067Pro | exon 20 | ? | not provided | ClinVar |
| p.Ala1067Thr | exon 20 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Ala1067Asp | exon 20 | ? | not provided | ClinVar |
| p.Ala1067Gly | exon 20 | ? | not provided | ClinVar |
| p.Ala1067Val | exon 20 | ? | not provided | ClinVar |
| p.Gly1069Arg | exon 20 | ? | not provided | ClinVar |
| p.Arg1070Trp | exon 20 | ? | not provided | ClinVar |
| p.Arg1070Gln | exon 20 | D | Pathogenic/Likely pathogenic, not provided | ClinVar |
| p.Arg1070Pro | exon 20 | ? | not provided | ClinVar |
| p.Gln1071* | exon 20 | ? | not provided | ClinVar |
| p.Gln1071Pro | exon 20 | D | Pathogenic | ClinVar |
| p.Phe1074Leu | exon 20 | D | Likely pathogenic | ClinVar |
| p.Leu1077Pro | exon 20 | D | Pathogenic | ClinVar |
| p.His1079Pro | exon 20 | ? | not provided | ClinVar |
| p.Ala1081Pro | exon 20 | ? | not provided | ClinVar |
| p.His1085Arg | exon 20 | D | Pathogenic/Likely pathogenic, not provided | ClinVar |
| p.Thr1086Ile | exon 20 | ? | not provided | ClinVar |
| p.Asn1088Asp | exon 20 | ? | not provided | ClinVar |
| p.Trp1089* | exon 20 | D | Pathogenic | ClinVar |
| p.Tyr1092* | exon 20 | D | Pathogenic | ClinVar |
| p.Tyr1092* | exon 20 | D | Pathogenic | ClinVar |
| p.Leu1093Pro | exon 20 | ? | not provided | ClinVar |
| p.Thr1095= | exon 20 | ? | Uncertain significance | ClinVar |
| p.Trp1098Arg | exon 20 | ? | not provided | ClinVar |
| p.Trp1098* | exon 20 | ? | not provided | ClinVar |
| p.Trp1098Cys | exon 20 | ? | not provided | ClinVar |
| p.Gln1100Pro | exon 20 | ? | not provided | ClinVar |
| p.Met1101Arg | exon 20 | ? | not provided | ClinVar |
| p.Met1101Lys | exon 20 | D | Pathogenic | ClinVar |
| p.Arg1102* | exon 20 | ? | not provided | ClinVar |
| p.Glu1104* | exon 20 | D | Pathogenic | ClinVar |
| p.Met1105Arg | exon 20 | ? | not provided | ClinVar |
| p.Val1108Leu | exon 20 | ? | not provided | ClinVar |
| p.Ser1118Cys | exon 20 | ? | not provided | ClinVar |
| p.Ser1118Phe | exon 20 | ? | not provided | ClinVar |
| p.Gly1123Arg | exon 20 | ? | not provided | ClinVar |
| p.Arg1128* | exon 21 | ? | not provided | ClinVar |
| p.Gly1130Ala | exon 21 | ? | not provided | ClinVar |
| p.Met1137Val | exon 21 | ? | not provided | ClinVar |
| p.Met1137Arg | exon 21 | ? | not provided | ClinVar |
| p.Ile1139Val | exon 21 | ? | not provided | ClinVar |
| p.Met1140Lys | exon 21 | ? | not provided | ClinVar |
| p.Gln1144* | exon 21 | ? | not provided | ClinVar |
| p.Trp1145* | exon 21 | ? | not provided | ClinVar |
| p.Val1147Ile | exon 21 | ? | not provided | ClinVar |
| p.Asn1148Ser | exon 21 | ? | not provided | ClinVar |
| p.Asn1148Lys | exon 21 | ? | not provided | ClinVar |
| p.Asp1152His | exon 21 | D | Pathogenic | ClinVar |
| p.Val1153Glu | exon 21 | ? | not provided | ClinVar |
| p.Asp1154Tyr | exon 21 | ? | not provided | ClinVar |
| p.Asp1154Gly | exon 21 | ? | not provided | ClinVar |
| p.Leu1156= | exon 21 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Arg1158* | exon 22 | D | Pathogenic | ClinVar |
| p.Ser1159Pro | exon 22 | ? | not provided | ClinVar |
| p.Ser1159Phe | exon 22 | ? | not provided | ClinVar |
| p.Ser1161Arg | exon 22 | ? | not provided | ClinVar |
| p.Arg1162* | exon 22 | D | Pathogenic | ClinVar |
| p.Phe1166Cys | exon 22 | ? | not provided | ClinVar |
| p.Asp1168Gly | exon 22 | ? | not provided | ClinVar |
| p.Lys1177* | exon 22 | ? | not provided | ClinVar |
| p.Tyr1182* | exon 22 | ? | not provided | ClinVar |
| p.Gln1186* | exon 22 | ? | not provided | ClinVar |
| p.Gln1186= | exon 22 | N | Likely benign | ClinVar |
| p.Ser1188= | exon 22 | ? | Uncertain significance | ClinVar |
| p.Asn1195Thr | exon 22 | ? | not provided | ClinVar |
| p.Ser1196* | exon 22 | D | Pathogenic | ClinVar |
| p.Lys1200= | exon 22 | ? | not provided | ClinVar |
| p.Ile1203Val | exon 22 | ? | Uncertain significance | ClinVar |
| p.Trp1204* | exon 22 | D | Pathogenic | ClinVar |
| p.Trp1204* | exon 22 | D | Pathogenic | ClinVar |
| p.Ser1206* | exon 22 | ? | not provided | ClinVar |
| p.Ser1206* | exon 22 | ? | not provided | ClinVar |
| p.Met1210Lys | exon 22 | ? | not provided | ClinVar |
| p.Val1212Ile | exon 22 | ? | not provided | ClinVar |
| p.Thr1220Ile | exon 22 | D | Pathogenic | ClinVar |
| p.Leu1227Ser | exon 22 | ? | not provided | ClinVar |
| p.Ile1234Val | exon 22 | D | Pathogenic | ClinVar |
| p.Ser1235Arg | exon 22 | N | Benign/Likely benign | ClinVar |
| p.Gln1238* | exon 22 | D | Pathogenic | ClinVar |
| p.Gln1238Arg | exon 22 | ? | not provided | ClinVar |
| p.Arg1239= | exon 22 | ? | not provided | ClinVar |
| p.Val1240Gly | exon 23 | ? | not provided | ClinVar |
| p.Gly1244Arg | exon 23 | ? | not provided | ClinVar |
| p.Gly1244Glu | exon 23 | D | Pathogenic | ClinVar |
| p.Gly1244Val | exon 23 | ? | not provided | ClinVar |
| p.Thr1246Ile | exon 23 | ? | not provided | ClinVar |
| p.Gly1247Arg | exon 23 | ? | not provided | ClinVar |
| p.Gly1249Arg | exon 23 | ? | not provided | ClinVar |
| p.Gly1249Glu | exon 23 | D | Pathogenic | ClinVar |
| p.Gly1249= | exon 23 | ? | Uncertain significance | ClinVar |
| p.Ser1251Asn | exon 23 | D | Pathogenic | ClinVar |
| p.Thr1252Pro | exon 23 | ? | not provided | ClinVar |
| p.Leu1253Phe | exon 23 | ? | not provided | ClinVar |
| p.Leu1254* | exon 23 | ? | not provided | ClinVar |
| p.Ser1255Pro | exon 23 | D | Pathogenic | ClinVar |
| p.Ser1255* | exon 23 | D | Pathogenic | ClinVar |
| p.Ser1255Leu | exon 23 | ? | not provided | ClinVar |
| p.Phe1257Leu | exon 23 | N | Likely benign | ClinVar |
| p.Asp1270Asn | exon 23 | ? | Conflicting interpretations of pathogenicity, not provided | ClinVar |
| p.Asp1270Tyr | exon 23 | ? | not provided | ClinVar |
| p.Val1272Glu | exon 23 | ? | Uncertain significance | ClinVar |
| p.Trp1274* | exon 23 | ? | not provided | ClinVar |
| p.Gln1281* | exon 23 | ? | not provided | ClinVar |
| p.Trp1282Arg | exon 23 | ? | not provided | ClinVar |
| p.Trp1282Gly | exon 23 | ? | not provided | ClinVar |
| p.Trp1282* | exon 23 | D | Pathogenic | ClinVar |
| p.Arg1283Lys | exon 23 | ? | not provided | ClinVar |
| p.Arg1283Met | exon 23 | D | Pathogenic | ClinVar |
| p.Ala1285Val | exon 23 | ? | not provided | ClinVar |
| p.Phe1286Ser | exon 23 | D | Pathogenic | ClinVar |
| p.Pro1290Ser | exon 23 | ? | not provided | ClinVar |
| p.Pro1290= | exon 23 | N | Benign/Likely benign | ClinVar |
| p.Gln1291* | exon 23 | ? | not provided | ClinVar |
| p.Gln1291Arg | exon 23 | ? | not provided | ClinVar |
| p.Gln1291His | exon 23 | D | Pathogenic | ClinVar |
| p.Gly1298Ala | exon 24 | D | Likely pathogenic | ClinVar |
| p.Thr1299Ile | exon 24 | ? | not provided | ClinVar |
| p.Thr1299= | exon 24 | ? | Conflicting interpretations of pathogenicity | ClinVar |
| p.Asn1303His | exon 24 | D | Pathogenic | ClinVar |
| p.Asn1303Ile | exon 24 | ? | not provided | ClinVar |
| p.Asn1303Lys | exon 24 | D | Pathogenic | ClinVar |
| p.Asp1305Glu | exon 24 | ? | not provided | ClinVar |
| p.Pro1306= | exon 24 | ? | not provided | ClinVar |
| p.Tyr1307Cys | exon 24 | ? | not provided | ClinVar |
| p.Tyr1307* | exon 24 | ? | not provided | ClinVar |
| p.Glu1308* | exon 24 | ? | not provided | ClinVar |
| p.Gln1309His | exon 24 | ? | not provided | ClinVar |
| p.Trp1310* | exon 24 | ? | not provided | ClinVar |
| p.Asp1312Gly | exon 24 | ? | not provided | ClinVar |
| p.Gln1313* | exon 24 | D | Pathogenic | ClinVar |
| p.Trp1316* | exon 24 | D | Pathogenic | ClinVar |
| p.Val1318Ala | exon 24 | ? | not provided | ClinVar |
| p.Ala1319Glu | exon 24 | ? | not provided | ClinVar |
| p.Leu1324Pro | exon 25 | ? | not provided | ClinVar |
| p.Glu1329Gln | exon 25 | ? | not provided | ClinVar |
| p.Gly1333Trp | exon 25 | D | Likely pathogenic | ClinVar |
| p.Leu1335Phe | exon 25 | ? | not provided | ClinVar |
| p.Leu1335Pro | exon 25 | ? | not provided | ClinVar |
| p.Phe1337Val | exon 25 | ? | not provided | ClinVar |
| p.Leu1339Phe | exon 25 | ? | not provided | ClinVar |
| p.Gly1349Ser | exon 25 | ? | not provided | ClinVar |
| p.Gly1349Asp | exon 25 | D | Pathogenic | ClinVar |
| p.Lys1351Glu | exon 25 | ? | not provided | ClinVar |
| p.Gln1352His | exon 25 | D | Pathogenic | ClinVar |
| p.Gln1352His | exon 25 | D | Likely pathogenic | ClinVar |
| p.Ala1364Val | exon 25 | ? | not provided | ClinVar |
| p.Ala1364= | exon 25 | N | Likely benign | ClinVar |
| p.Glu1371* | exon 25 | D | Likely pathogenic | ClinVar |
| p.Pro1372Thr | exon 25 | ? | not provided | ClinVar |
| p.Ser1373Ile | exon 25 | ? | Uncertain significance | ClinVar |
| p.His1375Asn | exon 25 | ? | not provided | ClinVar |
| p.His1375Pro | exon 25 | ? | not provided | ClinVar |
| p.Asp1377Asn | exon 25 | ? | Uncertain significance | ClinVar |
| p.Asp1377His | exon 25 | ? | not provided | ClinVar |
| p.Tyr1381His | exon 26 | ? | not provided | ClinVar |
| p.Tyr1381* | exon 26 | ? | not provided | ClinVar |
| p.Gln1382* | exon 26 | ? | not provided | ClinVar |
| p.Leu1388Gln | exon 26 | ? | not provided | ClinVar |
| p.Gln1390* | exon 26 | ? | not provided | ClinVar |
| p.Val1397Glu | exon 26 | ? | not provided | ClinVar |
| p.Ile1398Ser | exon 26 | ? | not provided | ClinVar |
| p.Glu1401* | exon 26 | ? | not provided | ClinVar |
| p.Glu1401Lys | exon 26 | ? | not provided | ClinVar |
| p.Glu1401Ala | exon 26 | ? | not provided | ClinVar |
| p.Glu1401Gly | exon 26 | ? | not provided | ClinVar |
| p.Glu1409Lys | exon 26 | ? | not provided | ClinVar |
| p.Gln1411* | exon 26 | ? | not provided | ClinVar |
| p.Gln1412* | exon 26 | ? | not provided | ClinVar |
| p.Leu1414Ser | exon 26 | ? | not provided | ClinVar |
| p.Glu1418* | exon 27 | ? | not provided | ClinVar |
| p.Arg1422Trp | exon 27 | ? | not provided | ClinVar |
| p.Tyr1424= | exon 27 | N | Benign | ClinVar |
| p.Ser1426Pro | exon 27 | ? | not provided | ClinVar |
| p.Ile1427Thr | exon 27 | D | Likely pathogenic | ClinVar |
| p.Arg1438Trp | exon 27 | ? | not provided | ClinVar |
| p.Asp1445Asn | exon 27 | ? | not provided | ClinVar |
| p.Ser1455* | exon 27 | D | Pathogenic | ClinVar |
| p.Gln1463= | exon 27 | N | Benign/Likely benign | ClinVar |
| p.Glu1473* | exon 27 | ? | not provided | ClinVar |
| p.Gln1476* | exon 27 | D | Pathogenic | ClinVar |