| 基因名 | 突变 |
|---|---|
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8615202C>T,c.943G>A,p.G315R |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8615198C>T,c.947G>A,p.R316Q |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8615058C>T,c.1087G>A,p.D363N |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8612943C>G,c.1246G>C,p.E416Q |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8610596G>A,c.1294C>T,p.R432C |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8609201T>C,c.1504A>G,p.I502V |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8604887C>T,c.1636G>A,p.E546K |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8601222C>T,c.1957G>A,p.V653I |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8601206C>T,c.1973G>A,p.R658Q |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8595439C>T,c.2062G>A,p.V688M |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8595378A>T,c.2123T>A,p.V708E |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8587708C>A,c.2860G>T,p.D954Y |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8587411C>T,c.3070G>A,p.V1024M |
| MYO1F(NM_012335,myosin IF,1098aa) | g.19:8587372G>A,c.3109C>T,p.P1037S |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59523990G>A,c.421C>T,p.H141Y |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59519746T>C,c.554A>G,p.D185G |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59519690G>T,c.610C>A,p.P204T |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59516890G>C,c.775C>G,p.L259V |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59515306T>C,c.862A>G,p.I288V |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59515264C>T,c.904G>A,p.E302K |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59510136G>A,c.1061C>T,p.A354V |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59506892G>C,c.1135C>G,p.H379D |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59497622G>C,c.1593C>G,p.I531M |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59497600G>T,c.1615C>A,p.L539M |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59464112A>T,c.2464T>A,p.L822M |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59455356G>C,c.2627C>G,p.T876R |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59453355T>G,c.2702A>C,p.Q901P |
| MYO1E(NM_004998,myosin IE,1108aa) | g.15:59430543C>T,c.3104G>A,p.R1035Q |