| 基因名 | 突变 |
|---|---|
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44131911A>T,c.717A>T,p.L239F |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44128374C>T,c.568C>T,p.R190C |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44127266C>T,c.470C>T,p.S157L |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44120559T>G,c.457T>G,p.S153A |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44120212C>T,c.110C>T,p.P37L |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44119235C>A,c.5C>A,p.S2Y |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190339483T>C,c.2237T>C,p.F746S |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190339048C>T,c.2186C>T,p.A729V |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190339047G>T,c.2185G>T,p.A729S |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190334907C>T,c.1925C>T,p.S642F |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190333236A>G,c.1664A>G,p.Y555C |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190331283A>G,c.1422A>G,p.I474M |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190327346C>G,c.915C>G,p.F305L |
| WDR75(NM_032168,WD repeat domain 75,830aa) | g.2:190320148A>G,c.476A>G,p.K159R |
| WDR74(NM_018093,WD repeat domain 74,385aa) | g.11:62603000C>T,c.521G>A,p.R174Q |
| WDR74(NM_018093,WD repeat domain 74,385aa) | g.11:62601968C>T,c.650G>A,p.R217H |
| WDR73(NM_032856,WD repeat domain 73,378aa) | g.15:85191826G>A,c.229C>T,p.R77C |
| WDR73(NM_032856,WD repeat domain 73,378aa) | g.15:85189454C>A,c.478G>T,p.V160F |
| WDR73(NM_032856,WD repeat domain 73,378aa) | g.15:85188839C>T,c.746G>A,p.R249H |
| WDR73(NM_032856,WD repeat domain 73,378aa) | g.15:85186877_85186894del,c.944_961del,p.315_321del |
| WDR73(NM_032856,WD repeat domain 73,378aa) | g.15:85186837T>C,c.1001A>G,p.D334G |
| WDR73(NM_032856,WD repeat domain 73,378aa) | g.15:85186705C>T,c.1133G>A,p.R378H |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:54015036A>G,c.223T>C,p.S75P |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:54008845T>C,c.298A>G,p.M100V |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:54007541C>T,c.363G>A,p.M121I |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:54003091G>A,c.917C>T,p.P306L |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53998141A>G,c.1085T>C,p.F362S |
| WDR72(NM_182758,WD repeat domain 72,1102aa) | g.15:53997422C>A,c.1111G>T,p.V371L |