| 基因名 | 突变 |
|---|---|
| MYOG(NM_002479,myogenin (myogenic factor 4),224aa) | g.1:203054651G>A,c.439C>T,p.R147C |
| MYOG(NM_002479,myogenin (myogenic factor 4),224aa) | g.1:203054650C>T,c.440G>A,p.R147H |
| MYOG(NM_002479,myogenin (myogenic factor 4),224aa) | g.1:203054639C>T,c.451G>A,p.G151R |
| MYOG(NM_002479,myogenin (myogenic factor 4),224aa) | g.1:203054633C>T,c.457G>A,p.G153R |
| MYOG(NM_002479,myogenin (myogenic factor 4),224aa) | g.1:203053787C>T,c.541G>A,p.A181T |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95191218A>T,c.292T>A,p.S98T |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95162056G>C,c.923C>G,p.T308S |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95161268C>T,c.1024G>A,p.D342N |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95161195C>T,c.1097G>A,p.R366Q |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95155970G>A,c.1346C>T,p.T449I |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95147609G>A,c.1643C>T,p.T548I |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95140990C>T,c.1862G>A,p.R621H |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95134707G>A,c.2114C>T,p.T705M |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95134591C>T,c.2230G>A,p.A744T |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95129512C>T,c.2479G>A,p.G827R |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95123803G>A,c.2783C>T,p.T928M |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95123738C>T,c.2848G>A,p.E950K |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95119652G>A,c.3058C>T,p.R1020W |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95119636C>T,c.3074G>A,p.R1025Q |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95113644T>A,c.3405A>T,p.R1135S |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95113643C>T,c.3406G>A,p.V1136I |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95111492T>A,c.3593A>T,p.Y1198F |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95111211C>T,c.3781G>A,p.G1261R |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95107428G>A,c.4195C>T,p.R1399C |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95107423A>T,c.4200T>A,p.F1400L |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95107386G>C,c.4237C>G,p.P1413A |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95103663G>A,c.4276C>T,p.R1426W |
| MYOF(NM_013451,myoferlin,2061aa) | g.10:95093661G>A,c.4573C>T,p.R1525W |