| 基因名 | 突变 |
|---|---|
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179989742G>C,c.2833G>C,p.E945Q |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179989629A>G,c.2720A>G,p.D907G |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179989584G>C,c.2675G>C,p.R892T |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179989362A>G,c.2453A>G,p.Y818C |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179989230A>G,c.2321A>G,p.D774G |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179983074C>T,c.1486C>T,p.R496W |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179981087T>A,c.1270T>A,p.S424T |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179965908T>A,c.616T>A,p.L206M |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179965828G>A,c.536G>A,p.C179Y |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179961335G>A,c.374G>A,p.R125H |
| CEP350(NM_014810,centrosomal protein 350kDa,3117aa) | g.1:179959750A>G,c.229A>G,p.R77G |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88530518T>C,c.343A>G,p.N115D |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88524335C>T,c.503G>A,p.R168H |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88523494C>G,c.829G>C,p.E277Q |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88519133C>T,c.1079G>A,p.R360Q |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88519120A>C,c.1092T>G,p.I364M |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88519107C>T,c.1105G>A,p.E369K |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88514835T>C,c.1298A>G,p.D433G |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88513965G>A,c.1448C>T,p.T483I |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88508258T>C,c.1991A>G,p.D664G |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88505514T>G,c.2174A>C,p.E725A |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88500847T>C,c.2512A>G,p.K838E |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88500654G>A,c.2615C>T,p.S872L |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88500631C>A,c.2638G>T,p.A880S |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88500552A>C,c.2717T>G,p.L906W |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88487680_88487681insT,c.3175_3176insA,p.1059fs |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88483128C>T,c.3710G>A,p.R1237H |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88477631G>A,c.4805C>T,p.T1602M |