| 基因名 | 突变 |
|---|---|
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56585872G>C,c.508C>G,p.L170V |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56584523C>T,c.823G>A,p.G275R |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56584508T>C,c.838A>G,p.S280G |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56584205A>C,c.890T>G,p.V297G |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56581506G>A,c.1561C>T,p.R521C |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56581505C>T,c.1562G>A,p.R521H |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56581117C>T,c.1799G>A,p.R600H |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56572427G>A,c.3076C>T,p.R1026W |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56572426C>T,c.3077G>A,p.R1026Q |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56572373G>A,c.3130C>T,p.R1044C |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56569179C>T,c.3433G>A,p.A1145T |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56569119C>T,c.3493G>A,p.V1165I |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30421786A>T,c.3593A>T,p.N1198I |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30416527A>G,c.2879A>G,p.N960S |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30416490C>T,c.2842C>T,p.L948F |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30416434A>G,c.2786A>G,p.N929S |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30416383G>A,c.2735G>A,p.R912H |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30416287T>C,c.2639T>C,p.M880T |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415983C>T,c.2335C>T,p.L779F |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415938G>T,c.2290G>T,p.G764C |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415669G>T,c.2021G>T,p.G674V |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415666C>T,c.2018C>T,p.P673L |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415665C>G,c.2017C>G,p.P673A |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415581C>T,c.1933C>T,p.R645W |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30415531C>T,c.1883C>T,p.A628V |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30409367T>C,c.1340T>C,p.M447T |
| MTMR3(NM_021090,myotubularin related protein 3,1198aa) | g.22:30403279A>G,c.848A>G,p.N283S |
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95595495C>T,c.82G>A,p.A28T |