| 基因名 | 突变 |
|---|---|
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122437729G>C,c.3114G>C,p.K1038N |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122437634T>G,c.3019T>G,p.F1007V |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122413196T>C,c.2818T>C,p.F940L |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122405912G>T,c.2608G>T,p.V870L |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122404946C>T,c.2578C>T,p.R860C |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122404866C>T,c.2498C>T,p.T833M |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122399987C>A,c.2411C>A,p.P804Q |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122399945C>T,c.2369C>T,p.T790I |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122398520G>A,c.2163G>A,p.M721I |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122396990T>C,c.2123T>C,p.M708T |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122396395C>T,c.1948C>T,p.L650F |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122395132A>G,c.1688A>G,p.Y563C |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122392038C>T,c.1333C>T,p.L445F |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122386966G>T,c.1268G>T,p.W423L |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122386948G>A,c.1250G>A,p.R417Q |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122380838C>T,c.1148C>T,p.T383M |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122380513G>A,c.1072G>A,p.A358T |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122372183G>A,c.919G>A,p.V307I |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122372159G>A,c.895G>A,p.A299T |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122361711C>T,c.562C>T,p.R188W |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122359542G>T,c.331G>T,p.E111X |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122359408G>A,c.197G>A,p.G66E |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122359397_122359398insGAGGAGGAGGAGAAA,c.186_187insGAGGAGGAGGAGAAA,p.62_63ins5aa |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122359396G>A,c.185G>A,p.G62E |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43719732G>A,c.3722G>A,p.R1241H |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43708928G>A,c.3535G>A,p.E1179K |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43700212G>A,c.3407G>A,p.R1136Q |
| WDR65(NM_001195831,WD repeat domain 65,1283aa) | g.1:43700211C>T,c.3406C>T,p.R1136W |