| 基因名 | 突变 |
|---|---|
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149906413T>C,c.475A>G,p.M159V |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149906167T>G,c.600A>C,p.E200D |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149906097C>T,c.670G>A,p.D224N |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149903853C>T,c.1106G>A,p.R369H |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149903316G>A,c.1126C>T,p.R376C |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149902703C>T,c.1445G>A,p.R482H |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149902394G>A,c.1510C>T,p.P504S |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149902342C>T,c.1562G>A,p.R521H |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149902312T>G,c.1592A>C,p.Q531P |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149902286A>G,c.1618T>C,p.C540R |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149901766A>G,c.1690T>C,p.F564L |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149901676G>A,c.1780C>T,p.R594X |
| MTMR10(NM_017762,myotubularin related protein 10,777aa) | g.15:31260201T>C,c.487A>G,p.I163V |
| MTMR10(NM_017762,myotubularin related protein 10,777aa) | g.15:31246972C>T,c.1060G>A,p.V354I |
| MTMR10(NM_017762,myotubularin related protein 10,777aa) | g.15:31234064C>T,c.1943G>A,p.R648H |
| MTMR10(NM_017762,myotubularin related protein 10,777aa) | g.15:31233935A>G,c.2072T>C,p.V691A |
| MTMR10(NM_017762,myotubularin related protein 10,777aa) | g.15:31233908C>T,c.2099G>A,p.R700H |
| MTMR10(NM_017762,myotubularin related protein 10,777aa) | g.15:31233731T>C,c.2276A>G,p.K759R |
| MTM1(NM_000252,myotubularin 1,603aa) | g.X:149840049A>G,c.1793A>G,p.H598R |
| MTM1(NM_000252,myotubularin 1,603aa) | g.X:149839985G>A,c.1729G>A,p.A577T |
| MTL5(NM_001039656,metallothionein-like 5, testis-specific (tesmin),306aa) | g.11:68517932G>C,c.197C>G,p.A66G |
| MTL5(NM_001039656,metallothionein-like 5, testis-specific (tesmin),306aa) | g.11:68517752G>C,c.377C>G,p.S126C |
| MTL5(NM_001039656,metallothionein-like 5, testis-specific (tesmin),306aa) | g.11:68512543A>G,c.667T>C,p.C223R |
| MTL5(NM_001039656,metallothionein-like 5, testis-specific (tesmin),306aa) | g.11:68509835A>G,c.779T>C,p.V260A |
| MTL5(NM_001039656,metallothionein-like 5, testis-specific (tesmin),306aa) | g.11:68506246G>C,c.839C>G,p.A280G |
| MTIF3(NM_001166263,mitochondrial translational initiation factor 3,278aa) | g.13:28014383G>A,c.203C>T,p.T68I |
| MTIF3(NM_001166263,mitochondrial translational initiation factor 3,278aa) | g.13:28014332C>T,c.254G>A,p.R85Q |
| MTIF3(NM_001166263,mitochondrial translational initiation factor 3,278aa) | g.13:28014173T>C,c.413A>G,p.Q138R |