| 基因名 | 突变 |
|---|---|
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76734131C>T,c.938G>A,p.R313H |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76734084C>T,c.985G>A,p.V329I |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76729070C>T,c.1270G>A,p.A424T |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76729019G>A,c.1321C>T,p.R441C |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76729018C>T,c.1322G>A,p.R441H |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118501597A>G,c.2647A>G,p.T883A |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118499820G>A,c.2582+1G>A,p.861Donor |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118486119A>G,c.1198A>G,p.T400A |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118483784G>A,c.827G>A,p.R276Q |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118483544C>T,c.770C>T,p.T257M |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118483474C>G,c.700C>G,p.P234A |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118482149C>T,c.629C>T,p.A210V |
| WDR3(NM_006784,WD repeat domain 3,943aa) | g.1:118481173C>T,c.571C>T,p.R191W |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127619156G>A,c.764G>A,p.R255H |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127619087A>C,c.695A>C,p.H232P |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618856T>G,c.595T>G,p.C199G |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618839C>G,c.578C>G,p.A193G |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618791G>A,c.530G>A,p.R177Q |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618790C>T,c.529C>T,p.R177W |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618776A>G,c.515A>G,p.H172R |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618752C>T,c.491C>T,p.T164I |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618553G>A,c.440G>A,p.R147H |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618522G>T,c.409G>T,p.G137C |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618522G>A,c.409G>A,p.G137S |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127618182C>T,c.350C>T,p.S117L |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127617963G>A,c.241G>A,p.A81T |
| WDR38(NM_001276374,WD repeat domain 38,315aa) | g.9:127617931G>A,c.209G>A,p.R70H |
| WDR37(NM_014023,WD repeat domain 37,494aa) | g.10:1170855A>G,c.1244A>G,p.N415S |