| 基因名 | 突变 |
|---|---|
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134278270C>T,c.1952C>T,p.S651L |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134278251C>G,c.1933C>G,p.Q645E |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134266209A>T,c.962A>T,p.Y321F |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134264578G>A,c.706G>A,p.D236N |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134264558G>A,c.686G>A,p.R229H |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134256110G>C,c.555G>C,p.Q185H |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134250738A>G,c.274A>G,p.M92V |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134225967T>G,c.61T>G,p.C21G |
| CEP63(NM_025180,centrosomal protein 63kDa,703aa) | g.3:134214167A>T,c.5A>T,p.E2V |
| CEP57(NM_001243776,centrosomal protein 57kDa,491aa) | g.11:95564259A>G,c.1315A>G,p.R439G |
| CEP57(NM_001243776,centrosomal protein 57kDa,491aa) | g.11:95561127G>A,c.1036G>A,p.G346S |
| CEP57(NM_001243776,centrosomal protein 57kDa,491aa) | g.11:95561049A>G,c.958A>G,p.S320G |
| CEP57(NM_001243776,centrosomal protein 57kDa,491aa) | g.11:95546226G>C,c.306G>C,p.Q102H |
| CEP57(NM_001243776,centrosomal protein 57kDa,491aa) | g.11:95532495G>A,c.118G>A,p.D40N |
| CEP57L1(NM_001083535,centrosomal protein 57kDa-like 1,460aa) | g.6:109481776G>A,c.1018G>A,p.E340K |
| CEP57L1(NM_001083535,centrosomal protein 57kDa-like 1,460aa) | g.6:109480562T>C,c.913T>C,p.W305R |
| CEP57L1(NM_001083535,centrosomal protein 57kDa-like 1,460aa) | g.6:109480542A>T,c.893A>T,p.K298M |
| CEP57L1(NM_001083535,centrosomal protein 57kDa-like 1,460aa) | g.6:109476435C>A,c.582C>A,p.D194E |
| CEP57L1(NM_001083535,centrosomal protein 57kDa-like 1,460aa) | g.6:109471413C>T,c.433C>T,p.R145X |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95287785G>A,c.1270G>A,p.A424T |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95287769C>G,c.1254C>G,p.N418K |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95279506A>T,c.1133A>T,p.H378L |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95278683G>A,c.1043G>A,p.R348K |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95276742G>C,c.730G>C,p.A244P |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95276718T>C,c.706T>C,p.C236R |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95276692G>A,c.680G>A,p.G227D |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95275274A>G,c.641A>G,p.H214R |
| CEP55(NM_018131,centrosomal protein 55kDa,464aa) | g.10:95275259C>T,c.626C>T,p.T209M |