| 基因名 | 突变 |
|---|---|
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184210670C>T,c.3266C>T,p.A1089V |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184210655A>G,c.3251A>G,p.N1084S |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184210649G>T,c.3245G>T,p.R1082L |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184205482G>A,c.2987G>A,p.S996N |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184203991G>A,c.2815G>A,p.G939R |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184203886G>C,c.2710G>C,p.D904H |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184192386A>G,c.2554A>G,p.I852V |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184192278G>T,c.2446G>T,p.V816F |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184190300G>A,c.2384G>A,p.R795Q |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184190233G>T,c.2317G>T,p.A773S |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184190182A>G,c.2266A>G,p.K756E |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184187043A>C,c.2146A>C,p.M716L |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184186899G>A,c.2098G>A,p.A700T |
| WWC2(NM_024949,WW and C2 domain containing 2,1192aa) | g.4:184182125G>A,c.1349G>A,p.R450Q |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167895985G>A,c.3323G>A,p.R1108Q |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167894864A>G,c.3188A>G,p.H1063R |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167891750C>T,c.2951C>T,p.S984L |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167891720C>G,c.2921C>G,p.S974C |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167881043_167881045del,c.2596_2598del,p.866del |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167881041A>G,c.2594A>G,p.E865G |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167881032A>T,c.2585A>T,p.E862V |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167881032_167881034del,c.2585_2587del,p.862_863del |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167881030_167881032del,c.2583_2585del,p.861_862del |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167881029T>A,c.2582T>A,p.V861E |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167868720C>T,c.2314C>T,p.R772W |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167858372T>G,c.2203T>G,p.S735A |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167858371G>T,c.2202G>T,p.M734I |
| WWC1(NM_001161661,WW and C2 domain containing 1,1119aa) | g.5:167858319C>G,c.2150C>G,p.P717R |