| 基因名 | 突变 |
|---|---|
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26739418C>T,c.377G>A,p.G126D |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26739313C>T,c.482G>A,p.R161Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26739290G>A,c.505C>T,p.R169W |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26724639G>A,c.748C>T,p.R250W |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26724638C>T,c.749G>A,p.R250Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26717916C>T,c.791G>A,p.R264Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26707447G>A,c.1100C>T,p.S367L |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26707353A>T,c.1194T>A,p.D398E |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26705384G>T,c.1469C>A,p.P490Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26705348G>A,c.1505C>T,p.S502L |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26705300C>A,c.1553G>T,p.R518L |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26703827G>A,c.1630C>T,p.R544C |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26703734C>T,c.1723G>A,p.V575M |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26702473C>T,c.1961G>A,p.R654Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26702166T>C,c.2180A>G,p.N727S |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26700550C>T,c.2282G>A,p.R761Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26700373G>A,c.2317C>T,p.R773C |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26700316G>A,c.2374C>T,p.R792W |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26700288_26700289TC>AA,c.2401_2402GA>TT,p.E801L |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26700099G>A,c.2464C>T,p.R822W |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26700065T>A,c.2498A>T,p.Q833L |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26697521G>A,c.3148C>T,p.R1050W |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26697422C>G,c.3247G>C,p.A1083P |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26696374C>T,c.3470G>A,p.R1157Q |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26696125T>C,c.3608A>G,p.N1203S |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26695500A>C,c.3751T>G,p.C1251G |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26693460C>T,c.4023+1G>A,p.1341Donor |
| OTOF(NM_194248,otoferlin,1997aa) | g.2:26689608C>T,c.4474G>A,p.V1492M |