| 基因名 | 突变 |
|---|---|
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847617C>T,c.356C>T,p.T119M |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847523T>C,c.262T>C,p.W88R |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847461A>C,c.200A>C,p.H67P |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847437A>G,c.176A>G,p.K59R |
| WDR25(NM_024515,WD repeat domain 25,544aa) | g.14:100847320C>T,c.59C>T,p.S20L |
| WDR24(NM_032259,WD repeat domain 24,790aa) | g.16:739597A>C,c.44T>G,p.V15G |
| WDR24(NM_032259,WD repeat domain 24,790aa) | g.16:735742G>C,c.1615C>G,p.L539V |
| WDR1(NM_017491,WD repeat domain 1,606aa) | g.4:10105567A>G,c.182T>C,p.V61A |
| WDR1(NM_017491,WD repeat domain 1,606aa) | g.4:10099381G>A,c.512C>T,p.A171V |
| WDR1(NM_017491,WD repeat domain 1,606aa) | g.4:10099340T>C,c.553A>G,p.I185V |
| WDR1(NM_017491,WD repeat domain 1,606aa) | g.4:10089539T>C,c.743A>G,p.H248R |
| WDR1(NM_017491,WD repeat domain 1,606aa) | g.4:10086063A>G,c.1041+2T>C,p.347Donor |
| WDR1(NM_017491,WD repeat domain 1,606aa) | g.4:10079378G>A,c.1568C>T,p.S523L |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39278746C>G,c.3823C>G,p.P1275A |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39274649G>A,c.3533G>A,p.R1178Q |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39271671C>T,c.3434C>T,p.S1145F |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39271653A>G,c.3416A>G,p.Q1139R |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39267749G>A,c.3250G>A,p.G1084S |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39257474A>G,c.3008A>G,p.E1003G |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39254828A>C,c.2792A>C,p.Y931S |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39246135G>A,c.2608G>A,p.D870N |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39245910A>G,c.2464A>G,p.I822V |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39233878A>G,c.2239A>G,p.I747V |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39217563A>T,c.1064A>T,p.D355V |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39217553A>G,c.1054A>G,p.I352V |
| WDR19(NM_025132,WD repeat domain 19,1342aa) | g.4:39216240G>A,c.910G>A,p.V304I |
| WDR18(NM_024100,WD repeat domain 18,432aa) | g.19:994248G>A,c.1204G>A,p.V402M |
| WDR18(NM_024100,WD repeat domain 18,432aa) | g.19:994062C>A,c.1142C>A,p.A381D |