| 基因名 | 突变 |
|---|---|
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18067150G>A,c.9785G>A,p.R3262H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18067119A>G,c.9754A>G,p.N3252D |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18064722C>T,c.9478C>T,p.L3160F |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18058468G>A,c.8269G>A,p.V2757M |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18057167A>T,c.8045A>T,p.Y2682F |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18057106C>G,c.7984C>G,p.L2662V |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18055493C>G,c.7961C>G,p.T2654S |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18054500C>T,c.7550C>T,p.T2517I |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18054497C>T,c.7547C>T,p.A2516V |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18054222G>A,c.7468G>A,p.A2490T |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18052106G>A,c.6796G>A,p.V2266M |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18051861C>T,c.6743C>T,p.A2248V |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18051456C>T,c.6623C>T,p.P2208L |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18051447C>T,c.6614C>T,p.T2205I |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18051393G>A,c.6560G>A,p.R2187H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18047189G>A,c.6052G>A,p.G2018R |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18046898T>C,c.5929T>C,p.C1977R |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18046894G>A,c.5925G>A,p.W1975X |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18046138G>A,c.5894G>A,p.R1965H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18046137C>T,c.5893C>T,p.R1965C |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18045497T>G,c.5754T>G,p.I1918M |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18045038G>A,c.5603G>A,p.R1868H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18044443del,c.5517del,p.1839fs |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18044408C>T,c.5482C>T,p.R1828C |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18042924G>A,c.5210G>A,p.R1737Q |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18041529G>A,c.4976G>A,p.R1659Q |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18034610G>A,c.4096G>A,p.D1366N |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18030148G>A,c.3910G>A,p.D1304N |