| 基因名 | 突变 |
|---|---|
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1636934A>G,c.4603A>G,p.M1535V |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1636922G>A,c.4591G>A,p.V1531M |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1636065C>G,c.4429C>G,p.Q1477E |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1634184G>A,c.3911G>A,p.R1304H |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1633694C>T,c.3688C>T,p.R1230C |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1631666G>A,c.3413G>A,p.R1138Q |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1631647G>A,c.3394G>A,p.V1132M |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1631368G>A,c.3115G>A,p.A1039T |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1631343G>T,c.3090G>T,p.E1030D |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1631341_1631343del,c.3088_3090del,p.1030del |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1630571C>T,c.2318C>T,p.A773V |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1630507C>T,c.2254C>T,p.P752S |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1630208C>T,c.1955C>T,p.P652L |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1630130C>T,c.1877C>T,p.P626L |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1629080G>A,c.827G>A,p.R276H |
| WDR81(NM_001163809,WD repeat domain 81,1941aa) | g.17:1628321C>A,c.68C>A,p.P23Q |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54694364C>T,c.4399C>T,p.R1467W |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54694337G>A,c.4372G>A,p.G1458S |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54605908G>A,c.3976G>A,p.V1326M |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54448776G>A,c.3079G>A,p.A1027T |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54446696G>C,c.2982G>C,p.M994I |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54444070_54444072del,c.2906_2908del,p.969_970del |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54426151T>G,c.2815T>G,p.S939A |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54424321G>A,c.2497G>A,p.V833I |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54423987A>C,c.2163A>C,p.Q721H |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54423881C>T,c.2057C>T,p.P686L |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54423856G>T,c.2032G>T,p.A678S |
| WDR7(NM_015285,WD repeat domain 7,1490aa) | g.18:54363541G>C,c.1426G>C,p.V476L |