基因名 突变
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45376796G>A,c.1813G>A,p.G605S
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45369788G>A,c.1544G>A,p.R515Q
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45369601G>A,c.1357G>A,p.V453I
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45369577G>A,c.1333G>A,p.V445M
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45368426C>T,c.1232C>T,p.S411F
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45367092A>G,c.985A>G,p.N329D
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45361953G>A,c.506G>A,p.R169Q
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45360817G>A,c.263G>A,p.R88Q
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45360751T>G,c.197T>G,p.L66R
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45360730T>C,c.176T>C,p.L59P
ITGB3(NM_000212,integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61),788aa) g.17:45331267G>A,c.40G>A,p.V14M
ITGB3BP(NM_001206739,integrin beta 3 binding protein (beta3-endonexin),216aa) g.1:63975842C>T,c.16G>A,p.V6I
ITGB3BP(NM_001206739,integrin beta 3 binding protein (beta3-endonexin),216aa) g.1:63975830T>C,c.28A>G,p.R10G
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46330670C>T,c.28G>A,p.A10T
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46330269G>C,c.77C>G,p.T26R
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46330234C>T,c.112G>A,p.E38K
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46326929C>T,c.229G>A,p.D77N
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46320285C>T,c.847G>A,p.D283N
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46320279G>A,c.853C>T,p.R285C
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46314907T>A,c.1062A>T,p.Q354H
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46313371G>A,c.1172C>T,p.T391M
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46311862G>A,c.1274C>T,p.S425L
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46311816C>G,c.1320G>C,p.Q440H
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46310018_46310019insC,c.1531_1532insG,p.511fs
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46309983C>T,c.1567G>A,p.D523N
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46309920A>G,c.1630T>C,p.Y544H
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46309312G>A,c.1756C>T,p.R586W
ITGB2(NM_000211,integrin, beta 2 (complement component 3 receptor 3 and 4 subunit),769aa) g.21:46309291G>A,c.1777C>T,p.R593C
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