| 基因名 | 突变 |
|---|---|
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95580951A>G,c.890T>C,p.I297T |
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95578313G>C,c.974C>G,p.A325G |
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95571347C>G,c.1288G>C,p.E430Q |
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95569445C>T,c.1421G>A,p.S474N |
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95568581G>C,c.1589C>G,p.A530G |
| MTMR2(NM_001243571,myotubularin related protein 2,571aa) | g.11:95568531A>G,c.1639T>C,p.S547P |
| MTMR1(NM_003828,myotubularin related protein 1,665aa) | g.X:149931185G>A,c.1981G>A,p.V661I |
| MTMR1(NM_003828,myotubularin related protein 1,665aa) | g.X:149931129G>A,c.1925G>A,p.R642H |
| MTMR1(NM_003828,myotubularin related protein 1,665aa) | g.X:149931074G>A,c.1870G>A,p.V624I |
| MTMR1(NM_003828,myotubularin related protein 1,665aa) | g.X:149919269del,c.1610del,p.537fs |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9743616C>T,c.1912C>T,p.R638C |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9743536C>T,c.1832C>T,p.A611V |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9739483C>T,c.1702C>T,p.R568W |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9731811G>A,c.1597G>A,p.E533K |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9731805C>G,c.1591C>G,p.P531A |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9730666G>A,c.1333G>A,p.D445N |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9730639C>T,c.1306C>T,p.R436C |
| MTMR14(NM_001077525,myotubularin related protein 14,650aa) | g.3:9726588C>T,c.1067C>T,p.T356M |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32263316C>T,c.616G>A,p.D206N |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32263226A>T,c.706T>A,p.C236S |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32239220G>A,c.1231C>T,p.P411S |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32239166T>C,c.1285A>G,p.M429V |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32233886C>T,c.1667G>A,p.R556H |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32230302A>G,c.1826T>C,p.F609S |
| MTMR12(NM_001040446,myotubularin related protein 12,747aa) | g.5:32230026C>T,c.2102G>A,p.R701H |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149908124_149908125del,c.67-2del,p.23Acceptordel |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149907006C>T,c.341G>A,p.R114Q |
| MTMR11(NM_001145862,myotubularin related protein 11,709aa) | g.1:149906991C>T,c.356G>A,p.R119H |