| 基因名 | 突变 |
|---|---|
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64604578C>T,c.14720C>T,p.A4907V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64600800T>A,c.14528T>A,p.F4843Y |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64596884T>C,c.14258T>C,p.I4753T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64596823C>A,c.14197C>A,p.P4733T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64596543G>A,c.14063G>A,p.R4688Q |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64596537A>G,c.14057A>G,p.E4686G |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64591835G>A,c.13461G>A,p.M4487I |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64588825C>A,c.13254C>A,p.N4418K |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64580104G>A,c.12655G>A,p.A4219T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64580075T>C,c.12626T>C,p.I4209T |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64574312A>G,c.12596A>G,p.N4199S |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64574300C>T,c.12584C>T,p.S4195F |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64574288G>A,c.12572G>A,p.G4191D |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64564680G>A,c.12122G>A,p.R4041H |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64564679C>T,c.12121C>T,p.R4041C |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64560133T>C,c.12043T>C,p.Y4015H |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64560092G>A,c.12002G>A,p.W4001X |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64560091T>C,c.12001T>C,p.W4001R |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64557734A>C,c.11944A>C,p.N3982H |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64557725C>G,c.11935C>G,p.L3979V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64554434A>G,c.11530A>G,p.I3844V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64547323G>C,c.11313G>C,p.Q3771H |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64540823A>G,c.10835A>G,p.Q3612R |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64537513C>G,c.10582C>G,p.L3528V |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64537498A>C,c.10567A>C,p.K3523Q |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64537487A>G,c.10556A>G,p.E3519G |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64537441A>G,c.10510A>G,p.T3504A |
| SYNE2(NM_182914,spectrin repeat containing, nuclear envelope 2,6907aa) | g.14:64532330G>A,c.10393G>A,p.E3465K |