| Genename | Variants |
|---|---|
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53994463T>G,c.1437A>C,p.Q479H |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53957929C>T,c.1802G>A,p.R601Q |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53908062T>C,c.2341A>G,p.K781E |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53907952C>G,c.2451G>C,p.K817N |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53907948G>A,c.2455C>T,p.L819F |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53907906A>C,c.2497T>G,p.S833A |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53901720T>C,c.2942A>G,p.Q981R |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53815520C>A,c.3149-1G>T,p.1050Acceptor |
| WDR70(NM_018034,WD repeat domain 70,654aa) | g.5:37697814G>A,c.1150G>A,p.V384M |
| WDR70(NM_018034,WD repeat domain 70,654aa) | g.5:37392176_37392178del,c.250_252del,p.84del |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49051300G>A,c.2423G>A,p.R808H |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49051291C>T,c.2414C>T,p.S805F |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49051059G>A,c.2182G>A,p.G728S |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050980T>G,c.2103T>G,p.F701L |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050918G>A,c.2041G>A,p.V681I |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050762G>A,c.1885G>A,p.G629S |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050501C>T,c.1624C>T,p.R542W |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050499G>A,c.1622G>A,p.R541H |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050498C>T,c.1621C>T,p.R541C |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050415G>A,c.1538G>A,p.R513Q |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050408C>T,c.1531C>T,p.R511C |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49050133A>T,c.1256A>T,p.H419L |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49049664G>T,c.787G>T,p.V263F |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49049391G>A,c.514G>A,p.D172N |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49049385C>G,c.508C>G,p.L170V |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49044932G>T,c.158G>T,p.G53V |
| WDR6(NM_018031,WD repeat domain 6,1151aa) | g.3:49044842G>A,c.68G>A,p.C23Y |
| WDR66(NM_144668,WD repeat domain 66,1149aa) | g.12:122439451T>C,c.3284T>C,p.F1095S |