| 基因名 | 突变 |
|---|---|
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109779685G>A,c.3838G>A,p.A1280T |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109777503A>G,c.3579A>G,p.I1193M |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109753162G>A,c.3365G>A,p.R1122H |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109707928C>T,c.3320C>T,p.S1107L |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109707457A>G,c.3112A>G,p.I1038V |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109707440G>A,c.3095G>A,p.R1032Q |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109672251G>A,c.2788G>A,p.A930T |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109661359C>G,c.2557C>G,p.P853A |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109661274G>A,c.2472G>A,p.M824I |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109617124G>A,c.2243G>A,p.R748Q |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109613951C>T,c.2102C>T,p.A701V |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109610116G>A,c.2006G>A,p.R669Q |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109562437A>C,c.1864A>C,p.M622L |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109550367G>A,c.1663G>A,p.V555M |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109535415G>C,c.1434G>C,p.Q478H |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109496813T>C,c.1220T>C,p.M407T |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109475610G>A,c.1081G>A,p.V361I |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109475602A>G,c.1073A>G,p.D358G |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109472733G>A,c.916G>A,p.V306M |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109472710T>A,c.893T>A,p.M298K |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109445976A>C,c.729A>C,p.E243D |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109445884C>T,c.637C>T,p.R213C |
| MYO16(NM_001198950,myosin XVI,1880aa) | g.13:109438084T>A,c.609T>A,p.D203E |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18082164A>G,c.10573A>G,p.S3525G |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18077164A>G,c.10420A>G,p.S3474G |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18077147G>A,c.10403G>A,p.R3468Q |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18077137C>T,c.10393C>T,p.R3465W |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18069748C>T,c.9861C>T,p.G3287G |