| 基因名 | 突变 |
|---|---|
| WDR18(NM_024100,WD repeat domain 18,432aa) | g.19:991129G>A,c.790G>A,p.V264I |
| WDR18(NM_024100,WD repeat domain 18,432aa) | g.19:990281G>A,c.514G>A,p.A172T |
| WDR18(NM_024100,WD repeat domain 18,432aa) | g.19:990255C>T,c.488C>T,p.A163V |
| WDR18(NM_024100,WD repeat domain 18,432aa) | g.19:984537A>G,c.184A>G,p.I62V |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177100714G>A,c.3953G>A,p.R1318Q |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177100644G>A,c.3883G>A,p.A1295T |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177098285G>A,c.3643G>A,p.A1215T |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177095773G>A,c.3470G>A,p.R1157Q |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177094518_177094521del,c.3462_3464del,p.1154_1155del |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177089839C>G,c.3124C>G,p.L1042V |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177084329G>A,c.2947G>A,p.G983R |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177083272G>A,c.2869G>A,p.D957N |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177082099C>T,c.2768C>T,p.S923F |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177082069G>C,c.2738G>C,p.C913S |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177073026G>A,c.2440G>A,p.A814T |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177063186G>T,c.1567G>T,p.A523S |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177063174A>C,c.1555A>C,p.K519Q |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177063141C>T,c.1522C>T,p.R508X |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177056360C>A,c.1272C>A,p.N424K |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177056356T>C,c.1268T>C,p.I423T |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177056301G>A,c.1213G>A,p.D405N |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177056274A>G,c.1186A>G,p.I396V |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177046444C>T,c.800C>T,p.A267V |
| WDR17(NM_170710,WD repeat domain 17,1322aa) | g.4:177017689A>G,c.19A>G,p.I7V |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9536331G>A,c.1301G>A,p.S434N |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9532106C>A,c.1143C>A,p.D381E |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9532078T>C,c.1115T>C,p.V372A |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9532077G>A,c.1114G>A,p.V372M |