| 基因名 | 突变 |
|---|---|
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353718C>T,c.3142C>T,p.R1048C |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353542C>T,c.2966C>T,p.P989L |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353478A>C,c.2902A>C,p.K968Q |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353460G>A,c.2884G>A,p.V962I |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353404C>T,c.2828C>T,p.P943L |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353305C>A,c.2729C>A,p.T910N |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353086A>G,c.2510A>G,p.Y837C |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105353011C>T,c.2435C>T,p.P812L |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105352972T>C,c.2396T>C,p.I799T |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105352887_105352892del,c.2311_2316del,p.771_772del |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105352885_105352890del,c.2309_2314del,p.770_772del |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105352651C>T,c.2075C>T,p.S692F |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105350509G>A,c.1393G>A,p.G465S |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105350404C>T,c.1288C>T,p.P430S |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105350222C>T,c.1106C>T,p.A369V |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105350218A>G,c.1102A>G,p.K368E |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105349840T>C,c.1046T>C,p.L349P |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105349687C>T,c.893C>T,p.P298L |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105349570C>T,c.776C>T,p.A259V |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105349549C>T,c.755C>T,p.A252V |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105349504C>T,c.710C>T,p.S237L |
| CEP170B(NM_001112726,centrosomal protein 170B,1554aa) | g.14:105349420G>A,c.626G>A,p.R209H |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117282876C>T,c.4375C>T,p.R1459C |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117282558C>T,c.4211C>T,p.A1404V |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117281550T>C,c.4103T>C,p.I1368T |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117280669A>G,c.4084A>G,p.K1362E |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117280645G>A,c.4060G>A,p.D1354N |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117280517C>G,c.3932C>G,p.T1311S |