| 基因名 | 突变 |
|---|---|
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88477009T>C,c.4813-2A>G,p.1605Acceptor |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88472996C>T,c.5237G>A,p.R1746Q |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88472949G>A,c.5284C>T,p.R1762C |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88472911G>A,c.5322C>T,p.L1774L |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88471058_88471059insT,c.5649_5650insA,p.1883fs |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88465084T>C,c.5998A>G,p.I2000V |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88462318T>C,c.6116A>G,p.D2039G |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88454728A>G,c.6401T>C,p.I2134T |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88452656T>C,c.6787A>G,p.S2263G |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88452637A>G,c.6806T>C,p.I2269T |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88444187T>C,c.7153A>G,p.I2385V |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88444154C>A,c.7186G>T,p.D2396Y |
| CEP290(NM_025114,centrosomal protein 290kDa,2479aa) | g.12:88443059_88443060insT,c.7341_7342insA,p.2447fs |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34099270C>T,c.7144C>T,p.R2382C |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34096808A>G,c.6943A>G,p.M2315V |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34095607G>A,c.6677G>A,p.R2226Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34092810G>A,c.6613G>A,p.D2205N |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34092808G>A,c.6611G>A,p.R2204Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34092213G>A,c.6016G>A,p.D2006N |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34092171C>T,c.5974C>T,p.R1992C |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34092076G>A,c.5879G>A,p.R1960Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091967C>A,c.5770C>A,p.L1924M |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091839G>A,c.5642G>A,p.R1881Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091803G>T,c.5606G>T,p.R1869L |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091767G>A,c.5570G>A,p.R1857H |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091694G>A,c.5497G>A,p.E1833K |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091287G>A,c.5090G>A,p.R1697Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34091286C>T,c.5089C>T,p.R1697W |