| 基因名 | 突变 |
|---|---|
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26596095G>A,c.1639G>A,p.A547T |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26596080G>A,c.1624G>A,p.A542T |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26586136G>A,c.1184G>A,p.R395H |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26582340A>G,c.887A>G,p.Q296R |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26582312C>T,c.859C>T,p.R287W |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26582091G>A,c.638G>A,p.S213N |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26582069C>T,c.616C>T,p.R206C |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26582042C>T,c.589C>T,p.L197F |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26581700A>G,c.247A>G,p.I83V |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26570744G>A,c.143G>A,p.R48H |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26570657G>T,c.56G>T,p.S19I |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26566320A>G,c.46A>G,p.T16A |
| CEP85(NM_022778,centrosomal protein 85kDa,762aa) | g.1:26566317G>A,c.43G>A,p.V15I |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118887333T>C,c.379A>G,p.T127A |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118887303T>C,c.409A>G,p.S137G |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118887260C>T,c.452G>A,p.R151Q |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118887215T>A,c.497A>T,p.D166V |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118886961G>T,c.751C>A,p.P251T |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118812992A>C,c.1294T>G,p.S432A |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118803091C>G,c.1596G>C,p.Q532H |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118791804T>C,c.1918A>G,p.M640V |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118791786T>C,c.1936A>G,p.K646E |
| CEP85L(NM_001042475,centrosomal protein 85kDa-like,805aa) | g.6:118790282C>T,c.2207G>A,p.R736H |
| CEP78(NM_001098802,centrosomal protein 78kDa,722aa) | g.9:80881535G>C,c.2026G>C,p.A676P |
| CEP78(NM_001098802,centrosomal protein 78kDa,722aa) | g.9:80881357G>C,c.1849-1G>C,p.617Acceptor |
| CEP78(NM_001098802,centrosomal protein 78kDa,722aa) | g.9:80880442C>A,c.1783C>A,p.Q595K |
| CEP78(NM_001098802,centrosomal protein 78kDa,722aa) | g.9:80869773G>C,c.1276G>C,p.V426L |
| CEP78(NM_001098802,centrosomal protein 78kDa,722aa) | g.9:80858484A>G,c.710A>G,p.N237S |