| 基因名 | 突变 |
|---|---|
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171243679A>G,c.1438A>G,p.N480D |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171240250G>A,c.1216G>A,p.A406T |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171239677A>G,c.1163A>G,p.N388S |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171238563G>A,c.1009G>A,p.E337K |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171225863A>T,c.947A>T,p.H316L |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171225841A>G,c.925A>G,p.K309E |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171225758G>A,c.842G>A,p.R281Q |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171191900C>T,c.755C>T,p.P252L |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171073861C>T,c.559C>T,p.R187W |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171073856G>A,c.554G>A,p.R185H |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171070982G>A,c.415G>A,p.G139R |
| MYO3B(NM_138995,myosin IIIB,1341aa) | g.2:171056754C>T,c.281C>T,p.A94V |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26482179G>A,c.4484G>A,p.R1495Q |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26482178C>T,c.4483C>T,p.R1495X |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26482160A>G,c.4465A>G,p.I1489V |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26482157A>G,c.4462A>G,p.K1488E |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26463443C>T,c.4250C>T,p.T1417I |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26463130C>A,c.3937C>A,p.R1313S |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26463125C>G,c.3932C>G,p.T1311S |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26463052C>A,c.3859C>A,p.P1287T |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26463043A>T,c.3850A>T,p.T1284S |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26462940T>A,c.3747T>A,p.N1249K |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26462923T>C,c.3730T>C,p.Y1244H |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26462777T>C,c.3584T>C,p.V1195A |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26459386G>A,c.3316G>A,p.V1106I |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26457662G>A,c.3133G>A,p.V1045M |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26455090G>A,c.3094G>A,p.A1032T |
| MYO3A(NM_017433,myosin IIIA,1616aa) | g.10:26446363G>A,c.2918G>A,p.R973Q |