| 基因名 | 突变 |
|---|---|
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64491695T>C,c.5906T>C,p.M1969T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64489552A>C,c.5608A>C,p.S1870R |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64489478A>G,c.5534A>G,p.K1845R |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64484470T>C,c.5045T>C,p.L1682P |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64484337T>C,c.4912T>C,p.Y1638H |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64484335A>G,c.4910A>G,p.Y1637C |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64483247C>A,c.4785C>A,p.N1595K |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64469829G>A,c.4178G>A,p.R1393Q |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64469828C>T,c.4177C>T,p.R1393W |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64467412G>A,c.3613G>A,p.E1205K |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64465019G>A,c.3326G>A,p.S1109N |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64464101A>G,c.3235A>G,p.T1079A |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64457148C>G,c.2333C>G,p.S778C |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64450507A>G,c.2054A>G,p.N685S |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64449384C>T,c.1873C>T,p.H625Y |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64447776T>C,c.1721T>C,p.I574T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64447400C>T,c.1598C>T,p.A533V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64421533C>G,c.687C>G,p.D229E |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64408645A>G,c.280A>G,p.I94V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64375888C>T,c.22C>T,p.P8S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152841658C>A,c.245G>T,p.R82L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152823875C>T,c.781G>A,p.V261I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152823790C>G,c.866G>C,p.S289T |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152786487G>A,c.1838C>T,p.S613F |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152786394del,c.1931del,p.644fs |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152784621T>C,c.1964A>G,p.Q655R |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152780065C>T,c.2395G>A,p.V799I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152779933G>A,c.2527C>T,p.R843C |