Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51916180T>ACA254377ACVRL1c.923T>A (p.Ile308Asn)
c.1193T>A (p.Ile398Asn)
c.671T>A (p.Ile224Asn)
n.468T>A
c.1235T>A (p.Ile412Asn)
c.198T>A
c.404T>A (p.Ile135Asn)
ClinVar dbSNP
12g.51916180T>CCA384902873ACVRL1c.923T>C (p.Ile308Thr)
c.1193T>C (p.Ile398Thr)
c.671T>C (p.Ile224Thr)
n.468T>C
c.1235T>C (p.Ile412Thr)
c.198T>C
c.404T>C (p.Ile135Thr)
12g.51916180T>GCA384902875ACVRL1c.923T>G (p.Ile308Ser)
c.1193T>G (p.Ile398Ser)
c.671T>G (p.Ile224Ser)
n.468T>G
c.1235T>G (p.Ile412Ser)
c.198T>G
c.404T>G (p.Ile135Ser)
12g.51916180T=CA2036237090ACVRL1c.923T= (p.Ile308=)
c.1193T= (p.Ile398=)
c.671T= (p.Ile224=)
n.468T=
c.1235T= (p.Ile412=)
c.198T=
c.404T= (p.Ile135=)
12g.51916181C>ACA479811265ACVRL1c.924C>A (p.Ile308=)
c.1194C>A (p.Ile398=)
c.672C>A (p.Ile224=)
n.469C>A
c.1236C>A (p.Ile412=)
c.199C>A
c.405C>A (p.Ile135=)
12g.51916181C>GCA384902877ACVRL1c.924C>G (p.Ile308Met)
c.1194C>G (p.Ile398Met)
c.672C>G (p.Ile224Met)
n.469C>G
c.1236C>G (p.Ile412Met)
c.199C>G
c.405C>G (p.Ile135Met)
12g.51916181C>TCA479811272ACVRL1c.924C>T (p.Ile308=)
c.1194C>T (p.Ile398=)
c.672C>T (p.Ile224=)
n.469C>T
c.1236C>T (p.Ile412=)
c.199C>T
c.405C>T (p.Ile135=)
12g.51916182T>ACA384902879ACVRL1c.925T>A (p.Trp309Arg)
c.1195T>A (p.Trp399Arg)
c.673T>A (p.Trp225Arg)
n.470T>A
c.1237T>A (p.Trp413Arg)
c.200T>A
c.406T>A (p.Trp136Arg)
12g.51916182T>CCA384902882ACVRL1c.925T>C (p.Trp309Arg)
c.1195T>C (p.Trp399Arg)
c.673T>C (p.Trp225Arg)
n.470T>C
c.1237T>C (p.Trp413Arg)
c.200T>C
c.406T>C (p.Trp136Arg)
ClinVar dbSNP
12g.51916182T>GCA384902880ACVRL1c.925T>G (p.Trp309Gly)
c.1195T>G (p.Trp399Gly)
c.673T>G (p.Trp225Gly)
n.470T>G
c.1237T>G (p.Trp413Gly)
c.200T>G
c.406T>G (p.Trp136Gly)
ClinVar dbSNP
12g.51916182T=CA2036237096ACVRL1c.925T= (p.Trp309=)
c.1195T= (p.Trp399=)
c.673T= (p.Trp225=)
n.470T=
c.1237T= (p.Trp413=)
c.200T=
c.406T= (p.Trp136=)
12g.51916183G>ACA384902884ACVRL1c.926G>A (p.Trp309Ter)
c.1196G>A (p.Trp399Ter)
c.674G>A (p.Trp225Ter)
n.471G>A
c.1238G>A (p.Trp413Ter)
c.201G>A
c.407G>A (p.Trp136Ter)
ClinVar dbSNP
12g.51916183G>CCA119410ACVRL1c.926G>C (p.Trp309Ser)
c.1196G>C (p.Trp399Ser)
c.674G>C (p.Trp225Ser)
n.471G>C
c.1238G>C (p.Trp413Ser)
c.201G>C
c.407G>C (p.Trp136Ser)
ClinVar dbSNP
12g.51916183G=CA2036237105ACVRL1c.926G= (p.Trp309=)
c.1196G= (p.Trp399=)
c.674G= (p.Trp225=)
n.471G=
c.1238G= (p.Trp413=)
c.201G=
c.407G= (p.Trp136=)
12g.51916183G>TCA384902886ACVRL1c.926G>T (p.Trp309Leu)
c.1196G>T (p.Trp399Leu)
c.674G>T (p.Trp225Leu)
n.471G>T
c.1238G>T (p.Trp413Leu)
c.201G>T
c.407G>T (p.Trp136Leu)
ClinVar dbSNP
12g.51916185delCA2580086500ACVRL1c.928del (p.Ala310ProfsTer15)
c.1198del (p.Ala400ProfsTer15)
c.676del (p.Ala226ProfsTer15)
n.473del
c.1240del (p.Ala414ProfsTer15)
c.203del
c.409del (p.Ala137ProfsTer15)
ClinVar
12g.51916184G>ACA384902889ACVRL1c.927G>A (p.Trp309Ter)
c.1197G>A (p.Trp399Ter)
c.675G>A (p.Trp225Ter)
n.472G>A
c.1239G>A (p.Trp413Ter)
c.202G>A
c.408G>A (p.Trp136Ter)
ClinVar dbSNP
12g.51916184G>CCA384902894ACVRL1c.927G>C (p.Trp309Cys)
c.1197G>C (p.Trp399Cys)
c.675G>C (p.Trp225Cys)
n.472G>C
c.1239G>C (p.Trp413Cys)
c.202G>C
c.408G>C (p.Trp136Cys)
12g.51916184G=CA2036237110ACVRL1c.927G= (p.Trp309=)
c.1197G= (p.Trp399=)
c.675G= (p.Trp225=)
n.472G=
c.1239G= (p.Trp413=)
c.202G=
c.408G= (p.Trp136=)
12g.51916184G>TCA384902896ACVRL1c.927G>T (p.Trp309Cys)
c.1197G>T (p.Trp399Cys)
c.675G>T (p.Trp225Cys)
n.472G>T
c.1239G>T (p.Trp413Cys)
c.202G>T
c.408G>T (p.Trp136Cys)
12g.51916185G>ACA384902898ACVRL1c.928G>A (p.Ala310Thr)
c.1198G>A (p.Ala400Thr)
c.676G>A (p.Ala226Thr)
n.473G>A
c.1240G>A (p.Ala414Thr)
c.203G>A
c.409G>A (p.Ala137Thr)
ClinVar
12g.51916185G>CCA384902900ACVRL1c.928G>C (p.Ala310Pro)
c.1198G>C (p.Ala400Pro)
c.676G>C (p.Ala226Pro)
n.473G>C
c.1240G>C (p.Ala414Pro)
c.203G>C
c.409G>C (p.Ala137Pro)
ClinVar dbSNP
12g.51916185G>TCA384902902ACVRL1c.928G>T (p.Ala310Ser)
c.1198G>T (p.Ala400Ser)
c.676G>T (p.Ala226Ser)
n.473G>T
c.1240G>T (p.Ala414Ser)
c.203G>T
c.409G>T (p.Ala137Ser)
12g.51916186C>ACA384902908ACVRL1c.929C>A (p.Ala310Asp)
c.1199C>A (p.Ala400Asp)
c.677C>A (p.Ala226Asp)
n.474C>A
c.1241C>A (p.Ala414Asp)
c.204C>A
c.410C>A (p.Ala137Asp)
ClinVar dbSNP
12g.51916186C>GCA384902906ACVRL1c.929C>G (p.Ala310Gly)
c.1199C>G (p.Ala400Gly)
c.677C>G (p.Ala226Gly)
n.474C>G
c.1241C>G (p.Ala414Gly)
c.204C>G
c.410C>G (p.Ala137Gly)
12g.51916186C>TCA384902904ACVRL1c.929C>T (p.Ala310Val)
c.1199C>T (p.Ala400Val)
c.677C>T (p.Ala226Val)
n.474C>T
c.1241C>T (p.Ala414Val)
c.204C>T
c.410C>T (p.Ala137Val)
12g.51916187C>ACA479811380ACVRL1c.930C>A (p.Ala310=)
c.1200C>A (p.Ala400=)
c.678C>A (p.Ala226=)
n.475C>A
c.1242C>A (p.Ala414=)
c.205C>A
c.411C>A (p.Ala137=)
12g.51916187C>GCA479811384ACVRL1c.930C>G (p.Ala310=)
c.1200C>G (p.Ala400=)
c.678C>G (p.Ala226=)
n.475C>G
c.1242C>G (p.Ala414=)
c.205C>G
c.411C>G (p.Ala137=)
12g.51916187C>TCA479811387ACVRL1c.930C>T (p.Ala310=)
c.1200C>T (p.Ala400=)
c.678C>T (p.Ala226=)
n.475C>T
c.1242C>T (p.Ala414=)
c.205C>T
c.411C>T (p.Ala137=)
dbSNP
12g.51916188T>ACA384902909ACVRL1c.931T>A (p.Phe311Ile)
c.1201T>A (p.Phe401Ile)
c.679T>A (p.Phe227Ile)
n.476T>A
c.1243T>A (p.Phe415Ile)
c.206T>A
c.412T>A (p.Phe138Ile)
12g.51916188T>CCA384902910ACVRL1c.931T>C (p.Phe311Leu)
c.1201T>C (p.Phe401Leu)
c.679T>C (p.Phe227Leu)
n.476T>C
c.1243T>C (p.Phe415Leu)
c.206T>C
c.412T>C (p.Phe138Leu)
12g.51916188T>GCA384902911ACVRL1c.931T>G (p.Phe311Val)
c.1201T>G (p.Phe401Val)
c.679T>G (p.Phe227Val)
n.476T>G
c.1243T>G (p.Phe415Val)
c.206T>G
c.412T>G (p.Phe138Val)
12g.51916189T>ACA384902914ACVRL1c.932T>A (p.Phe311Tyr)
c.1202T>A (p.Phe401Tyr)
c.680T>A (p.Phe227Tyr)
n.477T>A
c.1244T>A (p.Phe415Tyr)
c.207T>A
c.413T>A (p.Phe138Tyr)
12g.51916189T>CCA384902915ACVRL1c.932T>C (p.Phe311Ser)
c.1202T>C (p.Phe401Ser)
c.680T>C (p.Phe227Ser)
n.477T>C
c.1244T>C (p.Phe415Ser)
c.207T>C
c.413T>C (p.Phe138Ser)
12g.51916189T>GCA384902917ACVRL1c.932T>G (p.Phe311Cys)
c.1202T>G (p.Phe401Cys)
c.680T>G (p.Phe227Cys)
n.477T>G
c.1244T>G (p.Phe415Cys)
c.207T>G
c.413T>G (p.Phe138Cys)
12g.51916190T>ACA384902919ACVRL1c.933T>A (p.Phe311Leu)
c.1203T>A (p.Phe401Leu)
c.681T>A (p.Phe227Leu)
n.478T>A
c.1245T>A (p.Phe415Leu)
c.208T>A
c.414T>A (p.Phe138Leu)
12g.51916190T>CCA479811437ACVRL1c.933T>C (p.Phe311=)
c.1203T>C (p.Phe401=)
c.681T>C (p.Phe227=)
n.478T>C
c.1245T>C (p.Phe415=)
c.208T>C
c.414T>C (p.Phe138=)
12g.51916190T>GCA384902921ACVRL1c.933T>G (p.Phe311Leu)
c.1203T>G (p.Phe401Leu)
c.681T>G (p.Phe227Leu)
n.478T>G
c.1245T>G (p.Phe415Leu)
c.208T>G
c.414T>G (p.Phe138Leu)
12g.51916191G>ACA384902923ACVRL1c.934G>A (p.Gly312Ser)
c.1204G>A (p.Gly402Ser)
c.682G>A (p.Gly228Ser)
n.479G>A
c.1246G>A (p.Gly416Ser)
c.209G>A
c.415G>A (p.Gly139Ser)
ClinVar dbSNP
12g.51916191G>CCA384902924ACVRL1c.934G>C (p.Gly312Arg)
c.1204G>C (p.Gly402Arg)
c.682G>C (p.Gly228Arg)
n.479G>C
c.1246G>C (p.Gly416Arg)
c.209G>C
c.415G>C (p.Gly139Arg)
12g.51916191G=CA2036237114ACVRL1c.934G= (p.Gly312=)
c.1204G= (p.Gly402=)
c.682G= (p.Gly228=)
n.479G=
c.1246G= (p.Gly416=)
c.209G=
c.415G= (p.Gly139=)
12g.51916191G>TCA384902925ACVRL1c.934G>T (p.Gly312Cys)
c.1204G>T (p.Gly402Cys)
c.682G>T (p.Gly228Cys)
n.479G>T
c.1246G>T (p.Gly416Cys)
c.209G>T
c.415G>T (p.Gly139Cys)
12g.51916192G>ACA384902931ACVRL1c.935G>A (p.Gly312Asp)
c.1205G>A (p.Gly402Asp)
c.683G>A (p.Gly228Asp)
n.480G>A
c.1247G>A (p.Gly416Asp)
c.210G>A
c.416G>A (p.Gly139Asp)
12g.51916192G>CCA384902929ACVRL1c.935G>C (p.Gly312Ala)
c.1205G>C (p.Gly402Ala)
c.683G>C (p.Gly228Ala)
n.480G>C
c.1247G>C (p.Gly416Ala)
c.210G>C
c.416G>C (p.Gly139Ala)
12g.51916192G>TCA384902927ACVRL1c.935G>T (p.Gly312Val)
c.1205G>T (p.Gly402Val)
c.683G>T (p.Gly228Val)
n.480G>T
c.1247G>T (p.Gly416Val)
c.210G>T
c.416G>T (p.Gly139Val)
12g.51916193C>ACA479811452ACVRL1c.936C>A (p.Gly312=)
c.1206C>A (p.Gly402=)
c.684C>A (p.Gly228=)
n.481C>A
c.1248C>A (p.Gly416=)
c.211C>A
c.417C>A (p.Gly139=)
12g.51916193C>GCA479811455ACVRL1c.936C>G (p.Gly312=)
c.1206C>G (p.Gly402=)
c.684C>G (p.Gly228=)
n.481C>G
c.1248C>G (p.Gly416=)
c.211C>G
c.417C>G (p.Gly139=)
12g.51916193C>TCA479811459ACVRL1c.936C>T (p.Gly312=)
c.1206C>T (p.Gly402=)
c.684C>T (p.Gly228=)
n.481C>T
c.1248C>T (p.Gly416=)
c.211C>T
c.417C>T (p.Gly139=)
12g.51916194C>ACA384902938ACVRL1c.937C>A (p.Leu313Met)
c.1207C>A (p.Leu403Met)
c.685C>A (p.Leu229Met)
n.482C>A
c.1249C>A (p.Leu417Met)
c.212C>A
c.418C>A (p.Leu140Met)
12g.51916194C>GCA384902947ACVRL1c.937C>G (p.Leu313Val)
c.1207C>G (p.Leu403Val)
c.685C>G (p.Leu229Val)
n.482C>G
c.1249C>G (p.Leu417Val)
c.212C>G
c.418C>G (p.Leu140Val)

Number of alleles fetched