| 基因名 | 突变 |
|---|---|
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69948821C>T,c.1981C>T,p.R661W |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69934389G>T,c.1658G>T,p.G553V |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69934259G>A,c.1528G>A,p.G510R |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69934258C>G,c.1527C>G,p.S509R |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69934109A>C,c.1378A>C,p.I460L |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69934038C>T,c.1307C>T,p.T436M |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69933969G>A,c.1238G>A,p.S413N |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69933921G>A,c.1190G>A,p.S397N |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69926334C>G,c.1002C>G,p.F334L |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69926290G>A,c.958G>A,p.E320K |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69926213C>T,c.881C>T,p.P294L |
| MYPN(NM_001256268,myopalladin,1026aa) | g.10:69908157T>C,c.296T>C,p.V99A |
| MYOZ3(NM_001122853,myozenin 3,251aa) | g.5:150056415_150056416insC,c.734_735insC,p.245fs |
| MYOZ3(NM_001122853,myozenin 3,251aa) | g.5:150056322G>T,c.641G>T,p.G214V |
| MYOZ3(NM_001122853,myozenin 3,251aa) | g.5:150056307C>A,c.626C>A,p.T209N |
| MYOZ3(NM_001122853,myozenin 3,251aa) | g.5:150056274C>T,c.593C>T,p.P198L |
| MYOZ3(NM_001122853,myozenin 3,251aa) | g.5:150051958T>C,c.481T>C,p.S161P |
| MYOZ3(NM_001122853,myozenin 3,251aa) | g.5:150050195C>T,c.211C>T,p.R71W |
| MYOZ2(NM_016599,myozenin 2,264aa) | g.4:120085512G>A,c.523G>A,p.G175R |
| MYOZ2(NM_016599,myozenin 2,264aa) | g.4:120072195A>C,c.245A>C,p.N82T |
| MYOZ2(NM_016599,myozenin 2,264aa) | g.4:120072041G>C,c.91G>C,p.D31H |
| MYOZ2(NM_016599,myozenin 2,264aa) | g.4:120057709A>C,c.29A>C,p.Q10P |
| MYOZ1(NM_021245,myozenin 1,299aa) | g.10:75399794C>T,c.-18-1G>A,p.5'UTRAcceptor |
| MYOZ1(NM_021245,myozenin 1,299aa) | g.10:75394401C>T,c.343G>A,p.G115S |
| MYOZ1(NM_021245,myozenin 1,299aa) | g.10:75394301G>A,c.443C>T,p.A148V |
| MYOZ1(NM_021245,myozenin 1,299aa) | g.10:75393680G>A,c.646C>T,p.P216S |
| MYOT(NM_006790,myotilin,498aa) | g.5:137222565T>A,c.1203T>A,p.D401E |
| MYOT(NM_006790,myotilin,498aa) | g.5:137213294G>A,c.617G>A,p.G206D |