基因名 突变
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119336962G>A,c.851G>A,p.S284N
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119334934C>G,c.740C>G,p.T247S
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119334879G>A,c.685G>A,p.V229I
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119334870C>T,c.676C>T,p.R226W
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119327670G>A,c.329G>A,p.R110H
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119327648A>G,c.307A>G,p.T103A
PLA1A(NM_015900,phospholipase A1 member A,456aa) g.3:119316828G>T,c.68G>T,p.S23I
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159536990A>T,c.3380A>T,p.D1127V
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159517948G>A,c.2197G>A,p.D733N
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159517931C>T,c.2180C>T,p.T727M
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159517919A>G,c.2168A>G,p.Y723C
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159514687A>G,c.1954A>G,p.I652V
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159499113A>G,c.1811A>G,p.D604G
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159497153G>A,c.1577G>A,p.R526H
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159488324G>A,c.1213G>A,p.V405M
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159488316G>A,c.1205G>A,p.R402H
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159481742C>T,c.956C>T,p.T319M
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159481643G>A,c.857G>A,p.R286Q
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159477627A>T,c.406A>T,p.S136C
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159477598A>G,c.377A>G,p.Y126C
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159477550A>G,c.329A>G,p.Q110R
PKP4(NM_003628,plakophilin 4,1192aa) g.2:159459601C>T,c.265C>T,p.P89S
PKP3(NM_007183,plakophilin 3,797aa) g.11:404543C>T,c.2368C>T,p.R790W
PKP3(NM_007183,plakophilin 3,797aa) g.11:404033C>T,c.2168C>T,p.A723V
PKP3(NM_007183,plakophilin 3,797aa) g.11:403723G>A,c.2029G>A,p.G677S
PKP3(NM_007183,plakophilin 3,797aa) g.11:403711C>T,c.2017C>T,p.R673C
PKP3(NM_007183,plakophilin 3,797aa) g.11:403696G>A,c.2002G>A,p.D668N
PKP3(NM_007183,plakophilin 3,797aa) g.11:403636C>T,c.1942C>T,p.R648C
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