| 基因名 | 突变 |
|---|---|
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130952038G>A,c.377C>T,p.A126V |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130951967C>T,c.448G>A,p.A150T |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130951949G>A,c.466C>T,p.R156W |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130951775G>A,c.640C>T,p.R214W |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130951774C>T,c.641G>A,p.R214Q |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130951754G>T,c.661C>A,p.R221S |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130949553A>G,c.1204T>C,p.W402R |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130949511C>T,c.1246G>A,p.G416R |
| TUBA3E(NM_207312,tubulin, alpha 3e,450aa) | g.2:130949411G>T,c.1346C>A,p.A449E |
| TUBA3D(NM_080386,tubulin, alpha 3d,450aa) | g.2:132238215A>T,c.949A>T,p.M317L |
| TUBA3D(NM_080386,tubulin, alpha 3d,450aa) | g.2:132237927C>A,c.661C>A,p.R221S |
| TUBA3D(NM_080386,tubulin, alpha 3d,450aa) | g.2:132237732C>T,c.466C>T,p.R156W |
| TUBA3D(NM_080386,tubulin, alpha 3d,450aa) | g.2:132237643C>T,c.377C>T,p.A126V |
| TUBA3D(NM_080386,tubulin, alpha 3d,450aa) | g.2:132235858T>C,c.125T>C,p.I42T |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19753484C>G,c.223G>C,p.V75L |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19752394G>A,c.367C>T,p.R123C |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19751579C>T,c.544G>A,p.V182M |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19751396G>A,c.727C>T,p.R243X |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19751245T>C,c.878A>G,p.N293S |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19748092G>A,c.1264C>T,p.R422C |
| TUBA3C(NM_006001,tubulin, alpha 3c,450aa) | g.13:19748038C>T,c.1318G>A,p.V440M |
| TUBA1C(NM_032704,tubulin, alpha 1c,449aa) | g.12:49666933A>G,c.1273A>G,p.M425V |
| TUBA1C(NM_032704,tubulin, alpha 1c,449aa) | g.12:49666108A>G,c.448A>G,p.T150A |
| TUBA1C(NM_032704,tubulin, alpha 1c,449aa) | g.12:49663369T>C,c.125T>C,p.I42T |
| TUBA1A(NM_001270399,tubulin, alpha 1a,451aa) | g.12:49579290A>T,c.859T>A,p.S287T |
| TTYH3(NM_025250,tweety family member 3,523aa) | g.7:2701336C>T,c.1535C>T,p.T512M |
| TTYH3(NM_025250,tweety family member 3,523aa) | g.7:2692639A>G,c.1015A>G,p.T339A |
| TTYH3(NM_025250,tweety family member 3,523aa) | g.7:2692634C>T,c.1010C>T,p.P337L |