基因名 突变
ITGA3(NM_002204,integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor),1051aa) g.17:48153781G>C,c.1766G>C,p.R589P
ITGA3(NM_002204,integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor),1051aa) g.17:48151849G>A,c.1420G>A,p.V474M
ITGA3(NM_002204,integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor),1051aa) g.17:48151822G>A,c.1393G>A,p.V465I
ITGA3(NM_002204,integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor),1051aa) g.17:48149503A>T,c.1113A>T,p.L371F
ITGA3(NM_002204,integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor),1051aa) g.17:48148852C>T,c.929C>T,p.A310V
ITGA3(NM_002204,integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor),1051aa) g.17:48145612G>A,c.607G>A,p.G203S
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52379179A>T,c.3154A>T,p.T1052S
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52374670A>G,c.2894A>G,p.E965G
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52371089A>G,c.2780A>G,p.N927S
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52370904T>C,c.2678T>C,p.I893T
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52368525A>G,c.2429A>G,p.Q810R
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52367801C>T,c.2269C>T,p.R757C
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52363039C>T,c.2035C>T,p.L679F
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52358757G>A,c.1600G>A,p.E534K
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52356764G>A,c.1346G>A,p.S449N
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52353876A>G,c.1118A>G,p.N373S
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52353875A>G,c.1117A>G,p.N373D
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52351974T>C,c.1091T>C,p.I364T
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52351880G>A,c.997G>A,p.A333T
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52351413G>A,c.825G>A,p.T275T
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52347369C>T,c.759C>T,p.F253F
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52344487A>G,c.517A>G,p.I173V
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52340862G>A,c.327G>A,p.M109I
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52338024G>A,c.268G>A,p.A90T
ITGA2(NM_002203,integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor),1181aa) g.5:52337983G>A,c.227G>A,p.R76Q
ITGA2B(NM_000419,integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41),1039aa) g.17:42463054G>C,c.439C>G,p.L147V
ITGA2B(NM_000419,integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41),1039aa) g.17:42463036C>T,c.457G>A,p.A153T
ITGA2B(NM_000419,integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41),1039aa) g.17:42460875C>T,c.1196G>A,p.R399Q
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