基因名 突变
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176317836G>A,c.521C>T,p.T174M
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176317824C>G,c.533G>C,p.R178T
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176316691C>T,c.685G>A,p.G229S
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176316559C>T,c.737G>A,p.G246D
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176316461C>T,c.835G>A,p.D279N
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176316455C>T,c.841G>A,p.G281R
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176315797C>T,c.983G>A,p.R328Q
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176315547G>A,c.1090C>T,p.R364C
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176314737C>T,c.1315G>A,p.V439I
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176314650T>C,c.1402A>G,p.M468V
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176314206T>C,c.1733A>G,p.Q578R
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176314060C>G,c.1800G>C,p.Q600H
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176311123T>C,c.1870A>G,p.N624D
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176310839T>C,c.1985A>G,p.N662S
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176310795G>A,c.2029C>T,p.R677C
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176308813_176308814insC,c.2272_2273insG,p.758fs
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176308697C>T,c.2389G>A,p.E797K
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176308303C>T,c.2627G>A,p.R876H
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176308201G>A,c.2645C>T,p.A882V
HK3(NM_002115,hexokinase 3 (white cell),923aa) g.5:176308175G>A,c.2671C>T,p.R891C
HK2(NM_000189,hexokinase 2,917aa) g.2:75117955G>A,c.2641G>A,p.D881N
HK2(NM_000189,hexokinase 2,917aa) g.2:75116527G>A,c.2531G>A,p.R844K
HK2(NM_000189,hexokinase 2,917aa) g.2:75107685C>T,c.1559C>T,p.P520L
HK2(NM_000189,hexokinase 2,917aa) g.2:75107630G>A,c.1504G>A,p.E502K
HK2(NM_000189,hexokinase 2,917aa) g.2:75107528C>T,c.1402C>T,p.R468C
HK2(NM_000189,hexokinase 2,917aa) g.2:75105856G>A,c.1073G>A,p.R358Q
HK2(NM_000189,hexokinase 2,917aa) g.2:75105840C>T,c.1057C>T,p.R353C
HK2(NM_000189,hexokinase 2,917aa) g.2:75101521C>T,c.820C>T,p.R274C
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