| 基因名 | 突变 |
|---|---|
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12702525G>A,c.23C>T,p.A8V |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12699070C>T,c.428G>A,p.R143Q |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12698983C>T,c.515G>A,p.S172N |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12691450G>A,c.841C>T,p.R281X |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12686398C>T,c.985G>A,p.A329T |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12678396T>G,c.1335A>C,p.E445D |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12674557G>A,c.1819C>T,p.R607C |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12673455C>A,c.1889G>T,p.R630L |
| CEP76(NM_024899,centrosomal protein 76kDa,659aa) | g.18:12673378G>A,c.1966C>T,p.R656C |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:653145C>G,c.1821C>G,p.S607R |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:653120A>G,c.1796A>G,p.N599S |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:640705A>G,c.1525A>G,p.T509A |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:640648G>T,c.1468G>T,p.E490X |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:640640G>A,c.1460G>A,p.R487H |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:639327G>A,c.1330G>A,p.E444K |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:639231C>A,c.1234C>A,p.P412T |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:637762T>A,c.1035T>A,p.F345L |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:637715G>A,c.988G>A,p.G330R |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:637678G>T,c.951G>T,p.L317F |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:637673G>A,c.946G>A,p.D316N |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:637668A>G,c.941A>G,p.K314R |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:637637A>G,c.910A>G,p.M304V |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:635643C>T,c.848C>T,p.A283V |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:635600C>T,c.805C>T,p.P269S |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:635508C>T,c.713C>T,p.P238L |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:634048C>G,c.677C>G,p.S226C |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:633915G>A,c.544G>A,p.A182T |
| CEP72(NM_018140,centrosomal protein 72kDa,647aa) | g.5:624591C>T,c.409C>T,p.R137C |