| 基因名 | 突变 |
|---|---|
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994188C>G,c.443G>C,p.G148A |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994101G>A,c.530C>T,p.T177M |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994015A>G,c.616T>C,p.F206L |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87993986T>A,c.645A>T,p.L215F |
| GJB6(NM_001110219,gap junction protein, beta 6, 30kDa,261aa) | g.13:20797025A>T,c.595T>A,p.S199T |
| GJB6(NM_001110219,gap junction protein, beta 6, 30kDa,261aa) | g.13:20797013T>C,c.607A>G,p.M203V |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223719G>A,c.788G>A,p.R263H |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223574G>A,c.643G>A,p.E215K |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223427G>A,c.496G>A,p.A166T |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223248G>A,c.317G>A,p.R106Q |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223224G>A,c.293G>A,p.R98Q |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223214G>A,c.283G>A,p.V95M |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223154C>T,c.223C>T,p.R75C |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35223118G>A,c.187G>A,p.V63I |
| GJB5(NM_005268,gap junction protein, beta 5, 31.1kDa,273aa) | g.1:35222995C>T,c.64C>T,p.R22C |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227534C>T,c.679C>T,p.R227W |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227519C>T,c.664C>T,p.R222W |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227466A>C,c.611A>C,p.E204A |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227362C>G,c.507C>G,p.C169W |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227306C>A,c.451C>A,p.R151S |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227239G>A,c.384G>A,p.W128X |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227231G>A,c.376G>A,p.G126R |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227226G>A,c.371G>A,p.R124Q |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227225C>T,c.370C>T,p.R124W |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227162C>T,c.307C>T,p.R103C |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227159G>A,c.304G>A,p.E102K |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227157G>A,c.302G>A,p.R101H |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227147C>T,c.292C>T,p.R98C |