| 基因名 | 突变 |
|---|---|
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95921719A>G,c.1132T>C,p.Y378H |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95916416C>T,c.1301G>A,p.R434H |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95916404G>A,c.1313C>T,p.A438V |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95912388G>A,c.1490C>T,p.T497M |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95912365G>A,c.1513C>T,p.L505F |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95906321G>A,c.2003C>T,p.T668M |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95906102G>A,c.2093C>T,p.P698L |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95906095C>A,c.2100G>T,p.K700N |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95903308_95903310del,c.2385_2387del,p.795_796del |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95903211G>C,c.2484C>G,p.I828M |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95899694C>T,c.2591G>A,p.R864H |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95899650G>A,c.2635C>T,p.R879C |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95899610G>A,c.2675C>T,p.S892F |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95884323G>A,c.2768C>T,p.A923V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64692155G>A,c.20635G>A,p.E6879K |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64691744G>A,c.20497G>A,p.E6833K |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64691219C>T,c.20423C>T,p.S6808L |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64691206G>A,c.20410G>A,p.D6804N |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64690055G>A,c.20339G>A,p.R6780Q |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64689913G>A,c.20197G>A,p.E6733K |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64688393G>A,c.20161G>A,p.A6721T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64688390C>T,c.20158C>T,p.R6720W |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64688386C>A,c.20154C>A,p.D6718E |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64688349G>A,c.20117G>A,p.R6706Q |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64687339C>T,c.20045C>T,p.S6682L |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64687305G>A,c.20011G>A,p.A6671T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64687258A>T,c.19964A>T,p.Q6655L |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64685212A>G,c.19639A>G,p.I6547V |