| 基因名 | 突变 |
|---|---|
| WDR49(NM_178824,WD repeat domain 49,697aa) | g.3:167196724C>T,c.2036G>A,p.R679Q |
| WDR48(NM_020839,WD repeat domain 48,677aa) | g.3:39108050T>G,c.280T>G,p.S94A |
| WDR47(NM_001142550,WD repeat domain 47,927aa) | g.1:109560146T>C,c.236A>G,p.K79R |
| WDR47(NM_001142550,WD repeat domain 47,927aa) | g.1:109538289G>A,c.1628C>T,p.A543V |
| WDR47(NM_001142550,WD repeat domain 47,927aa) | g.1:109538263G>A,c.1654C>T,p.R552C |
| WDR47(NM_001142550,WD repeat domain 47,927aa) | g.1:109529295T>C,c.1799A>G,p.K600R |
| WDR47(NM_001142550,WD repeat domain 47,927aa) | g.1:109526041C>T,c.1982G>A,p.R661H |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33256736G>A,c.124C>T,p.P42S |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33256696G>A,c.164C>T,p.P55L |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33256671G>C,c.189C>G,p.I63M |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33256471T>C,c.280A>G,p.T94A |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33254919C>T,c.964G>A,p.V322I |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33254665A>G,c.1022T>C,p.V341A |
| WDR46(NM_005452,WD repeat domain 46,610aa) | g.6:33248681A>G,c.1199T>C,p.L400P |
| WDR45(NM_007075,WD repeat domain 45,361aa) | g.X:48932930C>T,c.841G>A,p.V281M |
| WDR45B(NM_019613,WD repeat domain 45B,344aa) | g.17:80606200C>T,c.17G>A,p.C6Y |
| WDR45B(NM_019613,WD repeat domain 45B,344aa) | g.17:80601823A>C,c.142+2T>G,p.48Donor |
| WDR45B(NM_019613,WD repeat domain 45B,344aa) | g.17:80579609T>C,c.494A>G,p.H165R |
| WDR45B(NM_019613,WD repeat domain 45B,344aa) | g.17:80573830C>T,c.1000G>A,p.A334T |
| WDR44(NM_019045,WD repeat domain 44,913aa) | g.X:117528056G>A,c.865G>A,p.A289T |
| WDR43(NM_015131,WD repeat domain 43,677aa) | g.2:29169605A>G,c.1994A>G,p.D665G |
| WDR43(NM_015131,WD repeat domain 43,677aa) | g.2:29165214C>G,c.1771C>G,p.P591A |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76758996A>G,c.272T>C,p.I91T |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76758933T>C,c.335A>G,p.D112G |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76736793C>T,c.727G>A,p.G243R |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76736742G>A,c.778C>T,p.R260C |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76736673C>T,c.847G>A,p.D283N |
| WDR41(NM_018268,WD repeat domain 41,459aa) | g.5:76734132G>A,c.937C>T,p.R313C |