| 基因名 | 突变 |
|---|---|
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152651091G>A,c.14729C>T,p.P4910L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152647681A>T,c.15043T>A,p.L5015M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152647218C>T,c.15313G>A,p.D5105N |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152646407C>T,c.15469G>A,p.E5157K |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152646382T>A,c.15494A>T,p.K5165I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152644667C>G,c.15863G>C,p.G5288A |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152642914G>A,c.16025C>T,p.T5342M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152640110G>A,c.16277C>T,p.T5426M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152640099G>A,c.16288C>T,p.L5430F |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152640038G>A,c.16349C>T,p.A5450V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152631649A>G,c.16901T>C,p.M5634T |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152631566G>T,c.16984C>A,p.R5662S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152631566G>A,c.16984C>T,p.R5662C |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152629631C>T,c.17339G>A,p.R5780Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152623062G>C,c.17483C>G,p.T5828R |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152621856C>T,c.17602G>A,p.G5868R |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152621829G>C,c.17629C>G,p.P5877A |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152615148C>T,c.17797G>A,p.A5933T |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152614868C>T,c.17867G>A,p.R5956H |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152583258T>A,c.18881A>T,p.Q6294L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152570307C>G,c.19561G>C,p.E6521Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152565729C>A,c.19635G>T,p.R6545S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152565728G>A,c.19636C>T,p.R6546C |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152563538C>T,c.19730G>A,p.R6577Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152560708C>T,c.20027G>A,p.R6676Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152551728C>T,c.21149G>A,p.R7050Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152540278A>C,c.21904T>G,p.F7302V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152539540del,c.22045-2del,p.7349Acceptordel |