基因名 突变
CNTNAP1(NM_003632,contactin associated protein 1,1384aa) g.17:40841010C>T,c.1573C>T,p.R525W
CNTNAP1(NM_003632,contactin associated protein 1,1384aa) g.17:40841001G>C,c.1564G>C,p.V522L
CNTN6(NM_014461,contactin 6,1028aa) g.3:1445085A>C,c.3070A>C,p.I1024L
CNTN6(NM_014461,contactin 6,1028aa) g.3:1444141G>C,c.2957G>C,p.S986T
CNTN6(NM_014461,contactin 6,1028aa) g.3:1427412G>A,c.2635G>A,p.V879I
CNTN6(NM_014461,contactin 6,1028aa) g.3:1424828G>C,c.2369G>C,p.S790T
CNTN6(NM_014461,contactin 6,1028aa) g.3:1424693C>T,c.2234C>T,p.S745L
CNTN6(NM_014461,contactin 6,1028aa) g.3:1415694G>A,c.2032G>A,p.G678S
CNTN6(NM_014461,contactin 6,1028aa) g.3:1415422G>A,c.1921G>A,p.V641M
CNTN6(NM_014461,contactin 6,1028aa) g.3:1414598C>T,c.1745C>T,p.T582I
CNTN6(NM_014461,contactin 6,1028aa) g.3:1414127A>G,c.1637A>G,p.K546R
CNTN6(NM_014461,contactin 6,1028aa) g.3:1414033G>A,c.1543G>A,p.E515K
CNTN6(NM_014461,contactin 6,1028aa) g.3:1394052C>T,c.1409C>T,p.T470I
CNTN6(NM_014461,contactin 6,1028aa) g.3:1369235A>G,c.1178A>G,p.Q393R
CNTN6(NM_014461,contactin 6,1028aa) g.3:1369166C>T,c.1109C>T,p.T370I
CNTN6(NM_014461,contactin 6,1028aa) g.3:1363500G>A,c.928G>A,p.G310S
CNTN6(NM_014461,contactin 6,1028aa) g.3:1363480G>A,c.908G>A,p.R303Q
CNTN6(NM_014461,contactin 6,1028aa) g.3:1339601T>G,c.687T>G,p.I229M
CNTN6(NM_014461,contactin 6,1028aa) g.3:1337479C>T,c.649C>T,p.R217C
CNTN6(NM_014461,contactin 6,1028aa) g.3:1337326G>A,c.496G>A,p.V166I
CNTN6(NM_014461,contactin 6,1028aa) g.3:1320187T>C,c.449T>C,p.F150S
CNTN6(NM_014461,contactin 6,1028aa) g.3:1262389G>A,c.74G>A,p.R25H
CNTN5(NM_014361,contactin 5,1100aa) g.11:99941216G>A,c.1223G>A,p.R408Q
CNTN5(NM_014361,contactin 5,1100aa) g.11:99932087G>A,c.1124G>A,p.R375H
CNTN5(NM_014361,contactin 5,1100aa) g.11:99932010A>T,c.1047A>T,p.K349N
CNTN5(NM_014361,contactin 5,1100aa) g.11:99932000G>A,c.1037G>A,p.R346H
CNTN5(NM_014361,contactin 5,1100aa) g.11:99931948G>C,c.985G>C,p.V329L
CNTN5(NM_014361,contactin 5,1100aa) g.11:99872864G>A,c.976G>A,p.G326S
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