| 基因名 | 突变 |
|---|---|
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43688634G>A,c.2672G>A,p.R891Q |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43688550T>C,c.2588T>C,p.I863T |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43688496C>T,c.2534C>T,p.A845V |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43687934A>C,c.2500A>C,p.K834Q |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43687857A>G,c.2423A>G,p.E808G |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43680974G>A,c.1978G>A,p.G660S |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43675514G>A,c.1856G>A,p.R619H |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43675513C>T,c.1855C>T,p.R619C |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43675499C>T,c.1841C>T,p.S614L |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43652442G>C,c.1034G>C,p.C345S |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43651024C>G,c.966C>G,p.I322M |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43649508A>G,c.721A>G,p.N241D |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43649334G>T,c.547G>T,p.A183S |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43647483A>G,c.436A>G,p.I146V |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43647424C>T,c.377C>T,p.T126M |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43647336C>T,c.289C>T,p.R97C |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43647319C>G,c.272C>G,p.S91C |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241964468T>C,c.3197T>C,p.V1066A |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241958582T>C,c.3041T>C,p.I1014T |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241958512C>T,c.2971C>T,p.R991X |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241951329C>T,c.2854C>T,p.R952W |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241951189T>C,c.2714T>C,p.F905S |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241951168A>G,c.2693A>G,p.N898S |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241951161G>A,c.2686G>A,p.A896T |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241946599G>A,c.2591G>A,p.R864H |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241932705G>T,c.2052-1G>T,p.684Acceptor |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241929542G>A,c.1940G>A,p.R647Q |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241920634T>C,c.1790T>C,p.V597A |