基因名 突变
PIAS3(NM_006099,protein inhibitor of activated STAT, 3,628aa) g.1:145580580A>G,c.880A>G,p.I294V
PIAS3(NM_006099,protein inhibitor of activated STAT, 3,628aa) g.1:145580300A>G,c.782A>G,p.N261S
PIAS3(NM_006099,protein inhibitor of activated STAT, 3,628aa) g.1:145578333C>T,c.296C>T,p.T99M
PIAS3(NM_006099,protein inhibitor of activated STAT, 3,628aa) g.1:145578236C>T,c.199C>T,p.R67W
PIAS2(NM_173206,protein inhibitor of activated STAT, 2,572aa) g.18:44426800T>C,c.731A>G,p.Y244C
PIAS2(NM_173206,protein inhibitor of activated STAT, 2,572aa) g.18:44400928G>A,c.1616C>T,p.T539M
PIAS1(NM_016166,protein inhibitor of activated STAT, 1,651aa) g.15:68468845C>T,c.1334C>T,p.A445V
PIANP(NM_001244014,PILR alpha associated neural protein,276aa) g.12:6805649T>C,c.565A>G,p.I189V
PIANP(NM_001244014,PILR alpha associated neural protein,276aa) g.12:6804702C>T,c.721G>A,p.A241T
PI4KB(NM_001198773,phosphatidylinositol 4-kinase, catalytic, beta,801aa) g.1:151288698A>C,c.260T>G,p.I87S
PI4KB(NM_001198773,phosphatidylinositol 4-kinase, catalytic, beta,801aa) g.1:151266604C>T,c.2114G>A,p.G705D
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21167662C>T,c.989G>A,p.R330Q
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21165311T>C,c.1015A>G,p.I339V
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21156327G>A,c.1658C>T,p.S553L
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21153533G>A,c.1852C>T,p.R618X
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21153431G>A,c.1954C>T,p.L652F
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21152915C>T,c.2065G>A,p.V689I
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21115649G>A,c.2734C>T,p.R912C
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21107442C>T,c.2818G>A,p.A940T
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21096961C>T,c.3548G>A,p.R1183H
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21067589C>G,c.5551G>C,p.V1851L
PI4KA(NM_058004,phosphatidylinositol 4-kinase, catalytic, alpha,2102aa) g.22:21064251G>T,c.6118C>A,p.L2040I
PI4K2B(NM_018323,phosphatidylinositol 4-kinase type 2 beta,481aa) g.4:25278709T>C,c.1346T>C,p.V449A
PI4K2B(NM_018323,phosphatidylinositol 4-kinase type 2 beta,481aa) g.4:25278666G>A,c.1303G>A,p.G435R
PI4K2B(NM_018323,phosphatidylinositol 4-kinase type 2 beta,481aa) g.4:25265393_25265395del,c.1000_1002del,p.334del
PI4K2B(NM_018323,phosphatidylinositol 4-kinase type 2 beta,481aa) g.4:25260806A>T,c.904A>T,p.N302Y
PI4K2B(NM_018323,phosphatidylinositol 4-kinase type 2 beta,481aa) g.4:25260763G>T,c.861G>T,p.Q287H
PI4K2B(NM_018323,phosphatidylinositol 4-kinase type 2 beta,481aa) g.4:25260750G>A,c.848G>A,p.R283K
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