| Genename | Variants |
|---|---|
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227138G>A,c.283G>A,p.V95M |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227109C>T,c.254C>T,p.T85M |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227054G>A,c.199G>A,p.E67K |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227033T>G,c.178T>G,p.C60G |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35227008_35227011del,c.153_156del,p.51fs |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35226964G>A,c.109G>A,p.V37M |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35226949C>T,c.94C>T,p.R32C |
| GJB4(NM_153212,gap junction protein, beta 4, 30.3kDa,266aa) | g.1:35226892G>A,c.37G>A,p.V13M |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250961G>A,c.598G>A,p.V200I |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250943G>A,c.580G>A,p.A194T |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250910G>A,c.547G>A,p.E183K |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250901C>T,c.538C>T,p.R180X |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250842G>A,c.479G>A,p.R160H |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250837G>A,c.474G>A,p.M158I |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250655C>T,c.292C>T,p.R98C |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250613G>A,c.250G>A,p.V84I |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250472G>A,c.109G>A,p.V37M |
| GJB3(NM_024009,gap junction protein, beta 3, 31kDa,270aa) | g.1:35250457C>T,c.94C>T,p.R32W |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763710C>T,c.11G>A,p.G4D |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763686del,c.35del,p.12fs |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763642C>T,c.79G>A,p.V27I |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763620A>G,c.101T>C,p.M34T |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763612C>T,c.109G>A,p.V37I |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763582C>A,c.139G>T,p.E47X |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763486del,c.235del,p.79fs |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763452A>G,c.269T>C,p.L90P |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763434G>C,c.287C>G,p.A96G |
| GJB2(NM_004004,gap junction protein, beta 2, 26kDa,226aa) | g.13:20763421_20763422del,c.299_300del,p.100fs |