基因名 突变
PNPLA5(NM_138814,patatin-like phospholipase domain containing 5,429aa) g.22:44276760G>A,c.1205C>T,p.P402L
PNPLA4(NM_004650,patatin-like phospholipase domain containing 4,253aa) g.X:7889828C>T,c.337G>A,p.V113I
PNPLA4(NM_004650,patatin-like phospholipase domain containing 4,253aa) g.X:7870080C>T,c.580G>A,p.D194N
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44342175C>G,c.1359C>G,p.S453R
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44342116A>G,c.1300A>G,p.K434E
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44335962C>T,c.1069C>T,p.P357S
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44335885A>G,c.992A>G,p.E331G
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44333102T>G,c.929T>G,p.L310R
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44333090G>A,c.917G>A,p.R306H
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44333039C>T,c.866C>T,p.S289L
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44332993G>A,c.820G>A,p.A274T
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44328930A>G,c.659A>G,p.Y220C
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44328851T>C,c.580T>C,p.C194R
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44324727C>G,c.444C>G,p.I148M
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44323025G>A,c.398G>A,p.R133Q
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44322970G>T,c.343G>T,p.G115C
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44322961G>A,c.334G>A,p.G112S
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44322922T>G,c.295T>G,p.C99G
PNPLA3(NM_025225,patatin-like phospholipase domain containing 3,481aa) g.22:44322862C>T,c.235C>T,p.R79W
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824813G>T,c.1466G>T,p.S489I
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824789T>C,c.1442T>C,p.L481P
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824777C>T,c.1430C>T,p.P477L
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824777C>G,c.1430C>G,p.P477R
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824624A>G,c.1277A>G,p.N426S
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824567C>T,c.1220C>T,p.S407F
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824042C>T,c.964C>T,p.L322F
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:824021C>T,c.943C>T,p.P315S
PNPLA2(NM_020376,patatin-like phospholipase domain containing 2,504aa) g.11:823799C>G,c.863C>G,p.S288W
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