| 基因名 | 突变 |
|---|---|
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152719801G>A,c.7303C>T,p.R2435C |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152718031T>C,c.7435A>G,p.K2479E |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152718022C>T,c.7444G>A,p.V2482I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152717943T>A,c.7523A>T,p.Q2508L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152712648C>T,c.7768G>A,p.G2590S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152712440G>T,c.7976C>A,p.T2659N |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152711428C>T,c.8164G>A,p.V2722I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152708464G>T,c.8230C>A,p.Q2744K |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152708453C>G,c.8241G>C,p.Q2747H |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152708358A>C,c.8336T>G,p.I2779S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152708310G>A,c.8384C>T,p.A2795V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152706904T>C,c.8557A>G,p.T2853A |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152702385T>A,c.8765A>T,p.E2922V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152697692G>C,c.9148C>G,p.L3050V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152690150G>A,c.9764C>T,p.S3255L |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152686090G>T,c.10037C>A,p.S3346Y |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152686022T>C,c.10105A>G,p.M3369V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152683397C>T,c.10207G>A,p.G3403S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152679521A>C,c.10595T>G,p.L3532W |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152679518C>T,c.10598G>A,p.R3533H |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152674562T>C,c.11089A>G,p.I3697V |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152674464C>A,c.11187G>T,p.K3729N |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152673423C>G,c.11319G>C,p.R3773S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152673303del,c.11439del,p.3813fs |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152671892G>A,c.11594C>T,p.T3865M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152671865T>G,c.11621A>C,p.K3874T |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152671343C>G,c.11861G>C,p.S3954T |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152668211A>G,c.12061T>C,p.C4021R |