| 基因名 | 突变 |
|---|---|
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18029770C>T,c.3866C>T,p.P1289L |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18027845G>A,c.3658G>A,p.G1220R |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18027834G>A,c.3647G>A,p.R1216H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025572G>A,c.3458G>A,p.R1153H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025527A>G,c.3413A>G,p.Q1138R |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025472C>G,c.3358C>G,p.R1120G |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025433C>T,c.3319C>T,p.R1107C |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025317G>T,c.3203G>T,p.C1068F |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025254C>G,c.3140C>G,p.P1047R |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025140C>A,c.3026C>A,p.P1009H |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18025137C>G,c.3023C>G,p.T1008S |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18024576A>C,c.2462A>C,p.Q821P |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18024352G>T,c.2238G>T,p.R746S |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18024266T>G,c.2152T>G,p.W718G |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023897G>A,c.1783G>A,p.A595T |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023748C>T,c.1634C>T,p.A545V |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023568T>C,c.1454T>C,p.V485A |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023501A>G,c.1387A>G,p.M463V |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023499G>A,c.1385G>A,p.G462D |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023225C>A,c.1111C>A,p.P371T |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023146T>A,c.1032T>A,p.D344E |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18023137C>A,c.1023C>A,p.Y341X |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18022991G>A,c.877G>A,p.D293N |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18022964G>A,c.850G>A,p.E284K |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18022844G>A,c.730G>A,p.D244N |
| MYO15A(NM_016239,myosin XVA,3530aa) | g.17:18022364T>A,c.250T>A,p.S84T |
| MYO10(NM_012334,myosin X,2058aa) | g.5:16877744C>T,c.94G>A,p.V32I |
| MYO10(NM_012334,myosin X,2058aa) | g.5:16794855G>A,c.367C>T,p.R123W |