| 基因名 | 突变 |
|---|---|
| CEP95(NM_138363,centrosomal protein 95kDa,821aa) | g.17:62517603C>T,c.673C>T,p.P225S |
| CEP95(NM_138363,centrosomal protein 95kDa,821aa) | g.17:62517583A>G,c.653A>G,p.H218R |
| CEP95(NM_138363,centrosomal protein 95kDa,821aa) | g.17:62515460G>A,c.495G>A,p.M165I |
| CEP95(NM_138363,centrosomal protein 95kDa,821aa) | g.17:62504734T>G,c.44T>G,p.L15R |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33457336C>T,c.76G>A,p.V26I |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33444588T>G,c.425A>C,p.D142A |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33444576C>T,c.437G>A,p.R146Q |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33444556T>C,c.457A>G,p.S153G |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33444519A>G,c.492+2T>C,p.164Donor |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33439219T>C,c.548A>G,p.D183G |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33439187G>A,c.580C>T,p.R194W |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33439186C>T,c.581G>A,p.R194Q |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33430776A>T,c.611T>A,p.V204D |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33424549A>G,c.694T>C,p.Y232H |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33424399T>A,c.844A>T,p.K282X |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33424371G>A,c.872C>T,p.A291V |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33417136T>A,c.1124A>T,p.D375V |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33414420A>G,c.1193T>C,p.V398A |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33409142G>A,c.1372C>T,p.R458C |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33406311T>A,c.1497A>T,p.E499D |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33392223A>G,c.1661T>C,p.L554S |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33390782C>T,c.1856G>A,p.R619H |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33378696T>C,c.1927A>G,p.S643G |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33372814G>A,c.2071C>T,p.R691W |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33372765G>A,c.2120C>T,p.A707V |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33370084T>A,c.2336A>T,p.H779L |
| CEP89(NM_032816,centrosomal protein 89kDa,783aa) | g.19:33370070A>G,c.2350T>C,p.X784Q |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26601519G>A,c.1859G>A,p.R620Q |