| 基因名 | 突变 |
|---|---|
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26224922A>G,c.2966A>G,p.Q989R |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26224835C>T,c.2879C>T,p.A960V |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26224825A>G,c.2869A>G,p.K957E |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26222454C>T,c.2774C>T,p.S925L |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26194004C>T,c.2461C>T,p.R821W |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26181397C>T,c.2315C>T,p.T772M |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26173661T>C,c.1981T>C,p.W661R |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26168377C>T,c.1769C>T,p.T590M |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26166934G>A,c.1675G>A,p.E559K |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26166900G>C,c.1641G>C,p.W547C |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26165025C>T,c.1142C>T,p.T381M |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164994A>T,c.1111A>T,p.M371L |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164855A>T,c.972A>T,p.R324S |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164413C>T,c.530C>T,p.P177L |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164412C>A,c.529C>A,p.P177T |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164290C>T,c.407C>T,p.T136I |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164220C>T,c.337C>T,p.R113C |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26164192C>G,c.309C>G,p.D103E |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26159289G>A,c.131G>A,p.G44E |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26159232C>T,c.74C>T,p.S25L |
| MYO18B(NM_032608,myosin XVIIIB,2567aa) | g.22:26157068C>G,c.9C>G,p.I3M |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27448877C>T,c.1186G>A,p.V396I |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27448660G>A,c.1276C>T,p.R426C |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27448594G>A,c.1342C>T,p.R448C |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27448593C>T,c.1343G>A,p.R448H |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27448121T>C,c.1480A>G,p.I494V |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27446423G>A,c.1759C>T,p.R587W |
| MYO18A(NM_078471,myosin XVIIIA,2054aa) | g.17:27442838G>A,c.2071C>T,p.R691C |