基因名 突变
EPC1(NM_025209,enhancer of polycomb homolog 1 (Drosophila),836aa) g.10:32575715A>G,c.1298T>C,p.L433S
EPC1(NM_025209,enhancer of polycomb homolog 1 (Drosophila),836aa) g.10:32573803A>C,c.1567T>G,p.S523A
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43512995G>A,c.29C>T,p.S10L
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43512935C>T,c.89G>A,p.S30N
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43507394G>A,c.419C>T,p.A140V
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43500478C>T,c.1115G>A,p.G372D
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43499436G>A,c.1369C>T,p.R457C
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43499435C>T,c.1370G>A,p.R457H
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43498773C>T,c.1463G>A,p.R488H
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43498759C>T,c.1477G>A,p.G493S
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43498659G>A,c.1577C>T,p.T526M
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43498537C>T,c.1699G>A,p.A567T
EPB42(NM_000119,erythrocyte membrane protein band 4.2,721aa) g.15:43489658G>A,c.2008C>T,p.R670C
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29424419C>T,c.1616C>T,p.T539I
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29391585G>A,c.1430G>A,p.R477Q
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29385153C>G,c.1271C>G,p.T424R
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29379679G>A,c.1073G>A,p.G358D
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29359617G>A,c.598G>A,p.V200I
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29344900C>T,c.443C>T,p.P148L
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29344869G>A,c.412G>A,p.V138M
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29342245C>T,c.244C>T,p.P82S
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29342222C>T,c.221C>T,p.T74I
EPB41(NM_203342,erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked),641aa) g.1:29320013G>A,c.13G>A,p.V5I
EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) g.2:120925517A>C,c.2069A>C,p.H690P
EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) g.2:120925492A>G,c.2044A>G,p.M682V
EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) g.2:120922485A>T,c.1961A>T,p.Q654L
EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) g.2:120903841A>G,c.1769A>G,p.N590S
EPB41L5(NM_020909,erythrocyte membrane protein band 4.1 like 5,733aa) g.2:120903814A>T,c.1742A>T,p.D581V
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