| 基因名 | 突变 |
|---|---|
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170059557G>A,c.1187C>T,p.A396V |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170059554T>C,c.1190A>G,p.D397G |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170059245G>A,c.1256C>T,p.P419L |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170059234C>G,c.1267G>C,p.V423L |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170058374C>T,c.1400G>A,p.R467H |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170052093C>T,c.1414G>A,p.V472I |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170052042A>T,c.1465T>A,p.Y489N |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170049298C>T,c.1555G>A,p.A519T |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170047953C>T,c.1573G>A,p.V525M |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170047926C>T,c.1600G>A,p.G534S |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170047902T>A,c.1624A>T,p.T542S |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170043831A>C,c.1709T>G,p.F570C |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170038696G>A,c.1808C>T,p.A603V |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170036584G>T,c.1886C>A,p.S629Y |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170036466C>A,c.2003+1G>T,p.668Donor |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170034604T>C,c.2021A>G,p.K674R |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170033134G>T,c.2132C>A,p.T711N |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170033086G>A,c.2180C>T,p.A727V |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170002391G>A,c.2348C>T,p.P783L |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:170002323C>T,c.2416G>A,p.D806N |
| WDR27(NM_182552,WD repeat domain 27,895aa) | g.6:169972627G>A,c.2533C>T,p.R845C |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100996230G>A,c.1487G>A,p.R496Q |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847878G>A,c.617G>A,p.R206H |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847871G>A,c.610G>A,p.A204T |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847827C>T,c.566C>T,p.T189M |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847707A>G,c.446A>G,p.H149R |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847682A>G,c.421A>G,p.R141G |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847658C>T,c.397C>T,p.R133C |