| 基因名 | 突变 |
|---|---|
| MTMR8(NM_017677,myotubularin related protein 8,704aa) | g.X:63564951C>T,c.839G>A,p.R280Q |
| MTMR8(NM_017677,myotubularin related protein 8,704aa) | g.X:63557218C>T,c.1031G>A,p.R344H |
| MTMR8(NM_017677,myotubularin related protein 8,704aa) | g.X:63551624C>T,c.1165G>A,p.D389N |
| MTMR8(NM_017677,myotubularin related protein 8,704aa) | g.X:63551549G>A,c.1240C>T,p.P414S |
| MTMR8(NM_017677,myotubularin related protein 8,704aa) | g.X:63488698A>C,c.1834T>G,p.C612G |
| MTMR8(NM_017677,myotubularin related protein 8,704aa) | g.X:63488595G>A,c.1937C>T,p.T646M |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17230644G>C,c.130C>G,p.P44A |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17206560C>T,c.499G>A,p.V167I |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17206464G>A,c.595C>T,p.H199Y |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17169085C>T,c.1036G>A,p.A346T |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17163465A>T,c.1153T>A,p.Y385N |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17161973A>T,c.1408T>A,p.Y470N |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17159767G>A,c.1516C>T,p.R506C |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17159718A>G,c.1565T>C,p.M522T |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17157677T>G,c.1677A>C,p.Q559H |
| MTMR7(NM_004686,myotubularin related protein 7,660aa) | g.8:17157531T>C,c.1823A>G,p.D608G |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25848285T>C,c.65A>G,p.N22S |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25842016C>G,c.205G>C,p.V69L |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25841953C>T,c.268G>A,p.D90N |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25840379T>C,c.350A>G,p.N117S |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25839965C>T,c.583G>A,p.D195N |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25832832_25832837del,c.727-2del,p.243Acceptordel |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25831917C>T,c.926G>A,p.R309H |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25831888T>C,c.955A>G,p.I319V |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25831336T>C,c.1093A>G,p.M365V |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25828007G>T,c.1241C>A,p.A414D |
| MTMR6(NM_004685,myotubularin related protein 6,621aa) | g.13:25823441C>T,c.1795G>A,p.A599T |
| MTMR4(NM_004687,myotubularin related protein 4,1195aa) | g.17:56590248G>C,c.58C>G,p.P20A |