| 基因名 | 突变 |
|---|---|
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9515777G>A,c.1006G>A,p.E336K |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9511470G>A,c.788G>A,p.G263D |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9511445G>A,c.763G>A,p.A255T |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9503481C>T,c.734C>T,p.A245V |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9497560C>T,c.458C>T,p.A153V |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9489263G>A,c.244G>A,p.G82R |
| WDR16(NM_145054,WD repeat domain 16,620aa) | g.17:9489218G>A,c.199G>A,p.V67I |
| WDR13(NM_001166426,WD repeat domain 13,393aa) | g.X:48460322G>A,c.706G>A,p.V236I |
| WDR13(NM_001166426,WD repeat domain 13,393aa) | g.X:48460314A>G,c.698A>G,p.H233R |
| WDR13(NM_001166426,WD repeat domain 13,393aa) | g.X:48457781A>G,c.47A>G,p.H16R |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203776172T>C,c.28A>G,p.T10A |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203772630C>T,c.94G>A,p.D32N |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203765756T>C,c.223A>G,p.I75V |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203764273T>C,c.319A>G,p.I107V |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203762071T>C,c.406A>G,p.I136V |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203760910T>C,c.487A>G,p.M163V |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203760898T>C,c.499A>G,p.I167V |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203749009A>C,c.900T>G,p.F300L |
| WDR12(NM_018256,WD repeat domain 12,423aa) | g.2:203747499C>A,c.1129G>T,p.A377S |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122666300T>G,c.3450T>G,p.F1150L |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122664914G>A,c.3277G>A,p.A1093T |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122664879G>A,c.3242G>A,p.R1081H |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122663589G>A,c.2962G>A,p.E988K |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122662613C>T,c.2800C>T,p.H934Y |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122649483A>G,c.2305A>G,p.M769V |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122630836G>C,c.1449G>C,p.M483I |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122630739A>G,c.1352A>G,p.H451R |
| WDR11(NM_018117,WD repeat domain 11,1224aa) | g.10:122626152G>A,c.1066G>A,p.V356I |