基因名 |
突变 |
WDR11(NM_018117,WD repeat domain 11,1224aa) |
g.10:122618210G>A,c.254G>A,p.R85Q |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63720067T>A,c.83A>T,p.D28V |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63714613A>T,c.176T>A,p.I59N |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63713720G>A,c.209C>T,p.A70V |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63713677C>A,c.252G>T,p.E84D |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63712067G>A,c.308C>T,p.S103L |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63660902C>T,c.802G>A,p.G268S |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63631776C>T,c.842G>A,p.R281H |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63631539G>A,c.1079C>T,p.S360L |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63631355T>G,c.1263A>C,p.L421F |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63631308C>A,c.1310G>T,p.S437I |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63631303C>T,c.1315G>A,p.V439I |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63631285C>G,c.1333G>C,p.A445P |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63401820T>C,c.2063A>G,p.N688S |
WDPCP(NM_015910,WD repeat containing planar cell polarity effector,746aa) |
g.2:63380060C>T,c.2179G>A,p.G727S |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55468812T>A,c.692A>T,p.Q231L |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55467701T>C,c.703A>G,p.I235V |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55462483C>T,c.991G>A,p.D331N |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55462356C>T,c.1118G>A,p.R373Q |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55458040A>G,c.1232T>C,p.L411P |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55458038G>A,c.1234C>T,p.P412S |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55457987G>A,c.1285C>T,p.R429W |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55457951G>C,c.1321C>G,p.H441D |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55455889C>G,c.1383G>C,p.E461D |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55455876T>C,c.1396A>G,p.I466V |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55451546C>T,c.1801G>A,p.V601I |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55448409G>C,c.1912C>G,p.P638A |
WDHD1(NM_007086,WD repeat and HMG-box DNA binding protein 1,1129aa) |
g.14:55434069G>A,c.2107C>T,p.R703C |