| 基因名 | 突变 |
|---|---|
| SEZ6L(NM_021115,seizure related 6 homolog (mouse)-like,1024aa) | g.22:26688542G>A,c.265G>A,p.A89T |
| SEZ6L(NM_021115,seizure related 6 homolog (mouse)-like,1024aa) | g.22:26688438G>C,c.161G>C,p.R54T |
| SEZ6L(NM_021115,seizure related 6 homolog (mouse)-like,1024aa) | g.22:26565686C>A,c.51C>A,p.F17L |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29908433C>G,c.221G>C,p.R74P |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29908385G>A,c.269C>T,p.P90L |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29908316C>G,c.338G>C,p.R113T |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29907110G>A,c.583C>T,p.R195C |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29906727C>T,c.706G>A,p.G236R |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29906604C>T,c.829G>A,p.G277S |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29899123G>T,c.1055C>A,p.T352N |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29899094C>T,c.1084G>A,p.V362M |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29899021C>T,c.1157G>A,p.R386H |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29896915C>T,c.1364G>A,p.R455Q |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29891206C>T,c.1552G>A,p.D518N |
| SEZ6L2(NM_001243332,seizure related 6 homolog (mouse)-like 2,923aa) | g.16:29884970C>T,c.2185G>A,p.V729I |
| SETX(NM_015046,senataxin,2677aa) | g.9:135224791G>A,c.25C>T,p.P9S |
| SETX(NM_015046,senataxin,2677aa) | g.9:135224757C>T,c.59G>A,p.R20H |
| SETX(NM_015046,senataxin,2677aa) | g.9:135218103A>C,c.472T>G,p.L158V |
| SETX(NM_015046,senataxin,2677aa) | g.9:135206688C>T,c.986G>A,p.R329Q |
| SETX(NM_015046,senataxin,2677aa) | g.9:135205105A>G,c.1880T>C,p.M627T |
| SETX(NM_015046,senataxin,2677aa) | g.9:135205006G>C,c.1979C>G,p.A660G |
| SETX(NM_015046,senataxin,2677aa) | g.9:135204718T>A,c.2267A>T,p.E756V |
| SETX(NM_015046,senataxin,2677aa) | g.9:135204546T>G,c.2439A>C,p.E813D |
| SETX(NM_015046,senataxin,2677aa) | g.9:135204506T>C,c.2479A>G,p.K827E |
| SETX(NM_015046,senataxin,2677aa) | g.9:135204313A>G,c.2672T>C,p.V891A |
| SETX(NM_015046,senataxin,2677aa) | g.9:135204010T>C,c.2975A>G,p.K992R |
| SETX(NM_015046,senataxin,2677aa) | g.9:135203956C>T,c.3029G>A,p.R1010H |
| SETX(NM_015046,senataxin,2677aa) | g.9:135203756C>T,c.3229G>A,p.D1077N |