基因名 |
突变 |
WIPI2(NM_001278299,WD repeat domain, phosphoinositide interacting 2,310aa) |
g.7:5266906A>G,c.512A>G,p.N171S |
WIPI2(NM_001278299,WD repeat domain, phosphoinositide interacting 2,310aa) |
g.7:5265491G>A,c.346G>A,p.G116S |
WIPI1(NM_017983,WD repeat domain, phosphoinositide interacting 1,446aa) |
g.17:66453534G>A,c.29C>T,p.P10L |
WIPI1(NM_017983,WD repeat domain, phosphoinositide interacting 1,446aa) |
g.17:66449122G>A,c.92C>T,p.T31I |
WIPI1(NM_017983,WD repeat domain, phosphoinositide interacting 1,446aa) |
g.17:66446960C>T,c.242G>A,p.R81Q |
WIPI1(NM_017983,WD repeat domain, phosphoinositide interacting 1,446aa) |
g.17:66422292A>G,c.1217T>C,p.L406P |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29954127C>T,c.1447C>T,p.R483W |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29954112T>C,c.1432T>C,p.S478P |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29943929C>T,c.1379C>T,p.A460V |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29927689G>A,c.1105G>A,p.G369S |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29924092C>G,c.982C>G,p.P328A |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29924072A>G,c.962A>G,p.E321G |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29923970A>T,c.860A>T,p.Q287L |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29923604C>T,c.494C>T,p.A165V |
WIPF3(NM_001080529,WAS/WASL interacting protein family, member 3,483aa) |
g.7:29915533C>T,c.178C>T,p.R60C |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38430168C>T,c.1097C>T,p.T366M |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38430059C>A,c.988C>A,p.P330T |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38421293G>A,c.865G>A,p.G289R |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38421216A>G,c.788A>G,p.N263S |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38421015A>G,c.587A>G,p.H196R |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38420865C>T,c.437C>T,p.P146L |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38420822G>A,c.394G>A,p.G132R |
WIPF2(NM_133264,WAS/WASL interacting protein family, member 2,440aa) |
g.17:38418867G>A,c.287G>A,p.R96Q |
WIPF1(NM_001077269,WAS/WASL interacting protein family, member 1,503aa) |
g.2:175446163T>C,c.56A>G,p.N19S |
WIPF1(NM_001077269,WAS/WASL interacting protein family, member 1,503aa) |
g.2:175436940G>A,c.593C>T,p.P198L |
WIPF1(NM_001077269,WAS/WASL interacting protein family, member 1,503aa) |
g.2:175436757G>A,c.776C>T,p.A259V |
WIF1(NM_007191,WNT inhibitory factor 1,379aa) |
g.12:65514241C>G,c.244G>C,p.V82L |
WIF1(NM_007191,WNT inhibitory factor 1,379aa) |
g.12:65449885C>T,c.848G>A,p.R283Q |