| 基因名 | 突变 |
|---|---|
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117280468G>A,c.3883G>A,p.A1295T |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117279746T>C,c.3748+2T>C,p.1250Donor |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117279712C>T,c.3716C>T,p.P1239L |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117268024G>C,c.3496G>C,p.E1166Q |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117268012C>T,c.3484C>T,p.R1162C |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117267892C>T,c.3364C>T,p.R1122C |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117267884A>G,c.3356A>G,p.Q1119R |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117266312C>G,c.2963C>G,p.T988S |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117266269A>G,c.2920A>G,p.T974A |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117265852G>A,c.2858G>A,p.R953Q |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117258097C>T,c.1903C>T,p.R635W |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117253625C>T,c.1691C>T,p.A564V |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117252437A>G,c.1430A>G,p.H477R |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117246502C>T,c.1312C>T,p.R438W |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117244517A>G,c.1203A>G,p.I401M |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117241867_117241868insC,c.837_838insC,p.279fs |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117233245T>G,c.678T>G,p.S226R |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117232705T>A,c.548T>A,p.M183K |
| CEP164(NM_014956,centrosomal protein 164kDa,1460aa) | g.11:117222592G>A,c.281G>A,p.S94N |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49090175G>A,c.161C>T,p.S54L |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49089694C>T,c.344G>A,p.R115Q |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49085591C>A,c.759G>T,p.E253D |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49085550C>T,c.800G>A,p.R267Q |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49076311T>C,c.1180A>G,p.I394V |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49060434T>C,c.2000A>G,p.K667R |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49059638G>A,c.2041C>T,p.H681Y |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49054772C>A,c.2378G>T,p.S793I |
| CEP152(NM_001194998,centrosomal protein 152kDa,1710aa) | g.15:49054712A>G,c.2438T>C,p.I813T |