| 基因名 | 突变 |
|---|---|
| WDR34(NM_052844,WD repeat domain 34,536aa) | g.9:131396135G>A,c.1499C>T,p.A500V |
| WDR34(NM_052844,WD repeat domain 34,536aa) | g.9:131396069C>T,c.1565G>A,p.R522Q |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128479525T>C,c.1556A>G,p.N519S |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128477395G>A,c.2204C>T,p.P735L |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128477341G>A,c.2258C>T,p.P753L |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128477249T>C,c.2350A>G,p.M784V |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128477084G>C,c.2515C>G,p.P839A |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128467278del,c.3461del,p.1154fs |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128466410C>T,c.3622G>A,p.G1208S |
| WDR33(NM_018383,WD repeat domain 33,1336aa) | g.2:128466386G>A,c.3646C>T,p.R1216C |
| WDR31(NM_001012361,WD repeat domain 31,367aa) | g.9:116093311C>T,c.202G>A,p.V68M |
| WDR31(NM_001012361,WD repeat domain 31,367aa) | g.9:116091203A>C,c.282T>G,p.N94K |
| WDR31(NM_001012361,WD repeat domain 31,367aa) | g.9:116085423G>A,c.337C>T,p.P113S |
| WDR31(NM_001012361,WD repeat domain 31,367aa) | g.9:116082647C>G,c.770G>C,p.C257S |
| WDR31(NM_001012361,WD repeat domain 31,367aa) | g.9:116080895C>T,c.803G>A,p.R268Q |
| WDR31(NM_001012361,WD repeat domain 31,367aa) | g.9:116080845C>T,c.853G>A,p.V285I |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170089044T>A,c.58A>T,p.I20L |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170070777C>T,c.344G>A,p.R115Q |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170070723A>G,c.398T>C,p.L133P |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170068178C>A,c.560G>T,p.R187L |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170068107T>G,c.631A>C,p.I211L |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170068086C>T,c.652G>A,p.G218S |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170065628A>G,c.737T>C,p.I246T |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170064370T>C,c.796A>G,p.S266G |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170064346G>A,c.820C>T,p.R274C |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170064322T>C,c.844A>G,p.R282G |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170062481C>T,c.944G>A,p.G315E |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170060843G>A,c.1045C>T,p.R349X |