| 基因名 | 突变 |
|---|---|
| GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) | g.10:35896836G>A,c.395G>A,p.G132D |
| GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) | g.10:35896700C>T,c.259C>T,p.L87F |
| GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) | g.10:35896571G>A,c.130G>A,p.V44I |
| GJD4(NM_153368,gap junction protein, delta 4, 40.1kDa,370aa) | g.10:35894560G>A,c.64+1G>A,p.22Donor |
| GJD3(NM_152219,gap junction protein, delta 3, 31.9kDa,294aa) | g.17:38520056C>T,c.12G>A,p.W4X |
| GJD3(NM_152219,gap junction protein, delta 3, 31.9kDa,294aa) | g.17:38519746C>G,c.322G>C,p.E108Q |
| GJD3(NM_152219,gap junction protein, delta 3, 31.9kDa,294aa) | g.17:38519592C>T,c.476G>A,p.G159D |
| GJD3(NM_152219,gap junction protein, delta 3, 31.9kDa,294aa) | g.17:38519545G>A,c.523C>T,p.H175Y |
| GJD2(NM_020660,gap junction protein, delta 2, 36kDa,321aa) | g.15:35045057G>A,c.588C>T,p.S196S |
| GJC3(NM_181538,gap junction protein, gamma 3, 30.2kDa,279aa) | g.7:99527201G>A,c.43C>T,p.R15W |
| GJC3(NM_181538,gap junction protein, gamma 3, 30.2kDa,279aa) | g.7:99527197C>T,c.47G>A,p.R16H |
| GJC3(NM_181538,gap junction protein, gamma 3, 30.2kDa,279aa) | g.7:99526675A>T,c.569T>A,p.I190N |
| GJC3(NM_181538,gap junction protein, gamma 3, 30.2kDa,279aa) | g.7:99526647G>T,c.597C>A,p.S199R |
| GJC3(NM_181538,gap junction protein, gamma 3, 30.2kDa,279aa) | g.7:99521208G>A,c.800C>T,p.A267V |
| GJC2(NM_020435,gap junction protein, gamma 2, 47kDa,439aa) | g.1:228346693C>T,c.1234C>T,p.H412Y |
| GJC2(NM_020435,gap junction protein, gamma 2, 47kDa,439aa) | g.1:228346682G>A,c.1223G>A,p.R408Q |
| GJC2(NM_020435,gap junction protein, gamma 2, 47kDa,439aa) | g.1:228346525C>A,c.1066C>A,p.Q356K |
| GJC2(NM_020435,gap junction protein, gamma 2, 47kDa,439aa) | g.1:228346034C>G,c.575C>G,p.P192R |
| GJC1(NM_005497,gap junction protein, gamma 1, 45kDa,396aa) | g.17:42882477C>T,c.709G>A,p.G237S |
| GJC1(NM_005497,gap junction protein, gamma 1, 45kDa,396aa) | g.17:42882258C>T,c.928G>A,p.A310T |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994572G>A,c.59C>T,p.T20I |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994504C>T,c.127G>A,p.V43M |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994479A>G,c.152T>C,p.F51S |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994456C>T,c.175G>A,p.G59S |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994382C>T,c.249G>A,p.M83I |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994317T>G,c.314A>C,p.H105P |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994306G>A,c.325C>T,p.L109F |
| GJB7(NM_198568,gap junction protein, beta 7, 25kDa,223aa) | g.6:87994293G>T,c.338C>A,p.P113Q |