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
注意:这是数据表的摘录,包括在我们的研究中观察到的已发表的多态性位点。 如需完整的变体列表和潜在合作,请联系 huh@cougarlab.org