| 基因名 | 突变 |
|---|---|
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241912929C>G,c.1645C>G,p.H549D |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241907779G>A,c.1525G>A,p.D509N |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241886695C>G,c.1121C>G,p.T374S |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241886645G>C,c.1071G>C,p.K357N |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241875180G>A,c.1021G>A,p.G341R |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241850851A>G,c.898A>G,p.N300D |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241846867C>T,c.673C>T,p.R225X |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241823939G>A,c.253G>A,p.D85N |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241823930A>G,c.244A>G,p.N82D |
| WDR64(NM_144625,WD repeat domain 64,1081aa) | g.1:241815908C>T,c.122C>T,p.A41V |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85598679_85598680insA,c.2674_2675insA,p.892fs |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85598596G>A,c.2591G>A,p.S864N |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85598536A>G,c.2533-2A>G,p.845Acceptor |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85595688C>T,c.2425C>T,p.H809Y |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85594466G>A,c.2393G>A,p.R798H |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85594430C>G,c.2357C>G,p.T786R |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85589842A>G,c.2020A>G,p.T674A |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85559205G>A,c.922G>A,p.A308T |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85555822C>T,c.764C>T,p.T255M |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85551524T>C,c.551T>C,p.M184T |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85548077A>T,c.380A>T,p.N127I |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85546984T>A,c.171T>A,p.D57E |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85546927A>C,c.114A>C,p.E38D |
| WDR63(NM_145172,WD repeat domain 63,891aa) | g.1:85537631C>G,c.7C>G,p.P3A |
| WDR62(NM_001083961,WD repeat domain 62,1523aa) | g.19:36595436A>C,c.4170A>C,p.L1390F |
| WDR62(NM_001083961,WD repeat domain 62,1523aa) | g.19:36595425C>A,c.4159C>A,p.L1387I |
| WDR62(NM_001083961,WD repeat domain 62,1523aa) | g.19:36594853G>A,c.4123G>A,p.G1375S |
| WDR62(NM_001083961,WD repeat domain 62,1523aa) | g.19:36594751G>A,c.4021G>A,p.G1341S |