基因名 突变
PKP3(NM_007183,plakophilin 3,797aa) g.11:403622C>T,c.1928C>T,p.A643V
PKP3(NM_007183,plakophilin 3,797aa) g.11:403087G>A,c.1747G>A,p.A583T
PKP3(NM_007183,plakophilin 3,797aa) g.11:400124C>G,c.1431C>G,p.N477K
PKP3(NM_007183,plakophilin 3,797aa) g.11:400107G>A,c.1414G>A,p.A472T
PKP3(NM_007183,plakophilin 3,797aa) g.11:400075G>A,c.1382G>A,p.G461D
PKP3(NM_007183,plakophilin 3,797aa) g.11:400024C>T,c.1331C>T,p.T444M
PKP3(NM_007183,plakophilin 3,797aa) g.11:399181C>T,c.1258C>T,p.R420C
PKP3(NM_007183,plakophilin 3,797aa) g.11:399160C>T,c.1237C>T,p.R413W
PKP3(NM_007183,plakophilin 3,797aa) g.11:399059G>A,c.1136G>A,p.R379H
PKP3(NM_007183,plakophilin 3,797aa) g.11:397390G>T,c.889G>T,p.V297L
PKP3(NM_007183,plakophilin 3,797aa) g.11:397331G>C,c.830G>C,p.R277P
PKP3(NM_007183,plakophilin 3,797aa) g.11:397217C>T,c.716C>T,p.P239L
PKP3(NM_007183,plakophilin 3,797aa) g.11:397204A>T,c.703A>T,p.T235S
PKP3(NM_007183,plakophilin 3,797aa) g.11:397063C>A,c.562C>A,p.P188T
PKP3(NM_007183,plakophilin 3,797aa) g.11:397054C>T,c.553C>T,p.R185W
PKP3(NM_007183,plakophilin 3,797aa) g.11:397049C>G,c.548C>G,p.S183W
PKP3(NM_007183,plakophilin 3,797aa) g.11:397045C>T,c.544C>T,p.R182C
PKP3(NM_007183,plakophilin 3,797aa) g.11:397019G>A,c.518G>A,p.R173Q
PKP3(NM_007183,plakophilin 3,797aa) g.11:396985G>A,c.484G>A,p.V162M
PKP3(NM_007183,plakophilin 3,797aa) g.11:396874G>A,c.373G>A,p.V125M
PKP3(NM_007183,plakophilin 3,797aa) g.11:396865C>T,c.364C>T,p.R122C
PKP3(NM_007183,plakophilin 3,797aa) g.11:394491G>A,c.199G>A,p.A67T
PKP2(NM_004572,plakophilin 2,881aa) g.12:33049590C>T,c.76G>A,p.D26N
PKP2(NM_004572,plakophilin 2,881aa) g.12:33049510C>T,c.156G>A,p.K52K
PKP2(NM_004572,plakophilin 2,881aa) g.12:33049492C>A,c.174G>T,p.E58D
PKP2(NM_004572,plakophilin 2,881aa) g.12:33049457C>A,c.209G>T,p.S70I
PKP2(NM_004572,plakophilin 2,881aa) g.12:33031395G>A,c.419C>T,p.S140F
PKP2(NM_004572,plakophilin 2,881aa) g.12:33031350C>G,c.464G>C,p.S155T
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