| 基因名 | 突变 |
|---|---|
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34090549G>A,c.4352G>A,p.R1451Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34090519G>A,c.4322G>A,p.R1441Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34089740G>A,c.3967G>A,p.A1323T |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34085740G>T,c.3499G>T,p.A1167S |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34085710C>T,c.3469C>T,p.R1157C |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34085630C>T,c.3389C>T,p.A1130V |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34081351A>T,c.2985A>T,p.Q995H |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34081320G>A,c.2954G>A,p.R985Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34079058G>T,c.2775G>T,p.K925N |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34078517G>A,c.2641G>A,p.E881K |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34067227G>A,c.2266G>A,p.A756T |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34067081C>T,c.2120C>T,p.T707M |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34064394G>T,c.1837G>T,p.V613F |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34063439G>A,c.1684G>A,p.E562K |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34061873C>T,c.1567C>T,p.R523C |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34061296G>A,c.1307G>A,p.R436Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34060622G>A,c.1175G>A,p.R392H |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34060532G>C,c.1085G>C,p.G362A |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34055194G>A,c.665G>A,p.R222H |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34054824C>T,c.526C>T,p.R176C |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34053890C>T,c.353C>T,p.T118I |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34051440G>A,c.227G>A,p.R76Q |
| CEP250(NM_007186,centrosomal protein 250kDa,2442aa) | g.20:34050310C>T,c.118C>T,p.R40W |
| CEP19(NM_032898,centrosomal protein 19kDa,167aa) | g.3:196435539A>G,c.2T>C,p.M1T |
| CEP19(NM_032898,centrosomal protein 19kDa,167aa) | g.3:196435534T>C,c.7A>G,p.M3V |
| CEP19(NM_032898,centrosomal protein 19kDa,167aa) | g.3:196435431A>G,c.110T>C,p.I37T |
| CEP19(NM_032898,centrosomal protein 19kDa,167aa) | g.3:196434753T>C,c.173A>G,p.N58S |
| CEP19(NM_032898,centrosomal protein 19kDa,167aa) | g.3:196434643C>G,c.283G>C,p.E95Q |