| 基因名 | 突变 |
|---|---|
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54358519G>A,c.790G>A,p.D264N |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54349938G>A,c.374G>A,p.R125Q |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67390468C>G,c.47G>C,p.G16A |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67390438C>T,c.77G>A,p.G26D |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67390421A>G,c.94T>C,p.W32R |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67390416G>C,c.99C>G,p.C33W |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67370978G>T,c.251C>A,p.A84E |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67356893A>G,c.587T>C,p.I196T |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67313343A>G,c.1115T>C,p.L372P |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67313262T>C,c.1196A>G,p.K399R |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67303430C>T,c.1544G>A,p.R515K |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67301405A>G,c.1637T>C,p.I546T |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67301397G>A,c.1645C>T,p.P549S |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67301342C>T,c.1700G>A,p.R567Q |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67299748C>G,c.1817G>C,p.R606T |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67299704A>C,c.1861T>G,p.W621G |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67299290A>G,c.1991T>C,p.M664T |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67293571C>T,c.2036G>A,p.G679D |
| WDR78(NM_024763,WD repeat domain 78,848aa) | g.1:67288045C>T,c.2495G>A,p.R832Q |
| WDR77(NM_024102,WD repeat domain 77,342aa) | g.1:111991749G>A,c.43C>T,p.R15W |
| WDR77(NM_024102,WD repeat domain 77,342aa) | g.1:111985368G>A,c.707C>T,p.T236I |
| WDR77(NM_024102,WD repeat domain 77,342aa) | g.1:111985308_111985309insG,c.766_767insC,p.256fs |
| WDR77(NM_024102,WD repeat domain 77,342aa) | g.1:111983955T>C,c.926A>G,p.N309S |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44158549A>G,c.1840A>G,p.S614G |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44153571C>T,c.1603C>T,p.L535F |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44153566C>T,c.1598C>T,p.P533L |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44149287del,c.1335del,p.445fs |
| WDR76(NM_024908,WD repeat domain 76,626aa) | g.15:44143370C>T,c.1118C>T,p.P373L |