基因名 |
突变 |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100347187G>T,c.2248G>T,p.A750S |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100346668A>G,c.1936A>G,p.I646V |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100346641G>A,c.1909G>A,p.A637T |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100346326C>T,c.1874C>T,p.T625M |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100343254G>A,c.1481G>A,p.R494H |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100340787G>A,c.1160G>A,p.R387Q |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100340782G>T,c.1155G>T,p.K385N |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100335977A>G,c.686A>G,p.Q229R |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100327217T>C,c.241T>C,p.C81R |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100327164G>A,c.188G>A,p.R63H |
AGL(NM_000028,amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase,1532aa) |
g.1:100327088A>G,c.112A>G,p.T38A |
AGK(NM_018238,acylglycerol kinase,422aa) |
g.7:141352586G>A,c.1132-1G>A,p.378Acceptor |
AGK(NM_018238,acylglycerol kinase,422aa) |
g.7:141341085C>T,c.764C>T,p.T255M |
AGK(NM_018238,acylglycerol kinase,422aa) |
g.7:141333767G>A,c.655G>A,p.V219I |
AGGF1(NM_018046,angiogenic factor with G patch and FHA domains 1,714aa) |
g.5:76359024C>A,c.2092C>A,p.P698T |
AGGF1(NM_018046,angiogenic factor with G patch and FHA domains 1,714aa) |
g.5:76358892C>T,c.1960C>T,p.R654W |
AGGF1(NM_018046,angiogenic factor with G patch and FHA domains 1,714aa) |
g.5:76355524T>A,c.1800T>A,p.S600R |
AGGF1(NM_018046,angiogenic factor with G patch and FHA domains 1,714aa) |
g.5:76355468T>G,c.1744T>G,p.L582V |
AGGF1(NM_018046,angiogenic factor with G patch and FHA domains 1,714aa) |
g.5:76331449G>A,c.397G>A,p.E133K |
AGFG2(NM_006076,ArfGAP with FG repeats 2,481aa) |
g.7:100160525C>T,c.1127C>T,p.P376L |
AGFG2(NM_006076,ArfGAP with FG repeats 2,481aa) |
g.7:100160264T>C,c.1046T>C,p.M349T |
AGFG2(NM_006076,ArfGAP with FG repeats 2,481aa) |
g.7:100159926G>A,c.922G>A,p.A308T |
AGFG2(NM_006076,ArfGAP with FG repeats 2,481aa) |
g.7:100151734G>A,c.604G>A,p.A202T |
AGFG2(NM_006076,ArfGAP with FG repeats 2,481aa) |
g.7:100151719G>A,c.589G>A,p.V197I |
AGFG2(NM_006076,ArfGAP with FG repeats 2,481aa) |
g.7:100137085G>C,c.116G>C,p.C39S |
AGFG1(NM_001135187,ArfGAP with FG repeats 1,584aa) |
g.2:228416831A>G,c.1607A>G,p.N536S |
AGFG1(NM_001135187,ArfGAP with FG repeats 1,584aa) |
g.2:228416675C>T,c.1451C>T,p.A484V |
AGFG1(NM_001135187,ArfGAP with FG repeats 1,584aa) |
g.2:228395821A>G,c.709A>G,p.N237D |