| 基因名 | 突变 |
|---|---|
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152777095A>C,c.2653T>G,p.L885V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152777034T>C,c.2714A>G,p.H905R |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152776572G>A,c.2881C>T,p.R961W |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152776571C>T,c.2882G>A,p.R961Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152774753C>T,c.2995G>A,p.E999K |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152772264A>G,c.3104T>C,p.V1035A |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152771967A>G,c.3188T>C,p.V1063A |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152763346T>C,c.3872A>G,p.D1291G |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152763284C>T,c.3934G>A,p.E1312K |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152763282C>G,c.3936G>C,p.E1312D |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152763266C>G,c.3952G>C,p.E1318Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152763241C>T,c.3977G>A,p.R1326H |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152762307A>T,c.4107T>A,p.F1369L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152757224G>A,c.4162C>T,p.R1388W |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152755013C>T,c.4378G>A,p.V1460I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152751696C>T,c.4610G>A,p.R1537Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152751312G>A,c.4723C>T,p.L1575F |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152751278G>T,c.4757C>A,p.T1586K |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152749373G>A,c.4943C>T,p.T1648M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152746593A>T,c.5190T>A,p.D1730E |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152738081C>A,c.5491G>T,p.G1831C |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152737573C>T,c.5999G>A,p.R2000K |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152730807C>G,c.6268G>C,p.E2090Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152728223C>T,c.6649G>A,p.V2217I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152722413C>T,c.6889G>A,p.G2297R |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152722394G>A,c.6908C>T,p.T2303M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152722368A>G,c.6934T>C,p.F2312L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152720814C>T,c.7174G>A,p.V2392M |