基因名 突变
PLXDC2(NM_032812,plexin domain containing 2,529aa) g.10:20335849T>C,c.376T>C,p.S126P
PLXDC2(NM_032812,plexin domain containing 2,529aa) g.10:20290901A>C,c.310A>C,p.N104H
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37296080C>T,c.82G>A,p.D28N
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37296026G>A,c.136C>T,p.R46W
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37296025C>T,c.137G>A,p.R46Q
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37295935G>T,c.227C>A,p.T76K
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37265631C>G,c.269G>C,p.S90T
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37263682C>T,c.689G>A,p.R230H
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37262118G>A,c.800C>T,p.P267L
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37226111C>T,c.1381G>A,p.E461K
PLXDC1(NM_020405,plexin domain containing 1,500aa) g.17:37224211C>T,c.1385G>A,p.R462H
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17488060C>T,c.38G>A,p.R13Q
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17487778C>T,c.320G>A,p.R107H
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17476988T>C,c.386A>G,p.N129S
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17476933G>T,c.441C>A,p.F147L
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17476700C>T,c.574G>A,p.V192M
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17476402C>T,c.872G>A,p.R291Q
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17476328G>A,c.946C>T,p.R316W
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17476210C>T,c.1064G>A,p.R355Q
PLVAP(NM_031310,plasmalemma vesicle associated protein,442aa) g.19:17471634G>A,c.1187C>T,p.P396L
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44538264G>A,c.376C>T,p.R126C
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44538263C>T,c.377G>A,p.R126H
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44538242C>T,c.398G>A,p.R133Q
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44538177C>T,c.463G>A,p.A155T
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44536337C>T,c.607G>A,p.V203M
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44534990A>T,c.622T>A,p.S208T
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44533619G>A,c.844C>T,p.R282W
PLTP(NM_006227,phospholipid transfer protein,493aa) g.20:44533618C>T,c.845G>A,p.R282Q
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