Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51914403_51914405delinsCAGCA2036268859ACVRL1c.356-36_356-34delinsCAG (n.356-36_356-34delinsCAG)
c.626-36_626-34delinsCAG (n.626-36_626-34delinsCAG)
c.104-36_104-34delinsCAG (n.104-36_104-34delinsCAG)
c.668-36_668-34delinsCAG (n.668-36_668-34delinsCAG)
c.-164-36_-164-34delinsCAG (n.-164-36_-164-34delinsCAG)
12g.51914404_51914405delCA605051782ACVRL1c.356-35_356-34del (n.356-35_356-34del)
c.626-35_626-34del (n.626-35_626-34del)
c.104-35_104-34del (n.104-35_104-34del)
c.668-35_668-34del (n.668-35_668-34del)
c.-164-35_-164-34del (n.-164-35_-164-34del)
 dbSNP gnomAD v2 gnomAD v4
12g.51914405G>ACA2575161445ACVRL1c.356-34G>A (n.356-34G>A)
c.626-34G>A (n.626-34G>A)
c.104-34G>A (n.104-34G>A)
c.668-34G>A (n.668-34G>A)
c.-164-34G>A (n.-164-34G>A)
12g.51914405G>CCA2036268865ACVRL1c.356-34G>C (n.356-34G>C)
c.626-34G>C (n.626-34G>C)
c.104-34G>C (n.104-34G>C)
c.668-34G>C (n.668-34G>C)
c.-164-34G>C (n.-164-34G>C)
 dbSNP gnomAD v4
12g.51914405G=CA2036268866ACVRL1c.356-34G= (n.356-34G=)
c.626-34G= (n.626-34G=)
c.104-34G= (n.104-34G=)
c.668-34G= (n.668-34G=)
c.-164-34G= (n.-164-34G=)
12g.51914408T>ACA2036268871ACVRL1c.356-31T>A (n.356-31T>A)
c.626-31T>A (n.626-31T>A)
c.104-31T>A (n.104-31T>A)
c.668-31T>A (n.668-31T>A)
c.-164-31T>A (n.-164-31T>A)
 dbSNP
12g.51914408T=CA2036268868ACVRL1c.356-31T= (n.356-31T=)
c.626-31T= (n.626-31T=)
c.104-31T= (n.104-31T=)
c.668-31T= (n.668-31T=)
c.-164-31T= (n.-164-31T=)
12g.51914409G>ACA2618856393ACVRL1c.356-30G>A (n.356-30G>A)
c.626-30G>A (n.626-30G>A)
c.104-30G>A (n.104-30G>A)
c.668-30G>A (n.668-30G>A)
c.-164-30G>A (n.-164-30G>A)
 gnomAD v4
12g.51914410T>ACA2618856397ACVRL1c.356-29T>A (n.356-29T>A)
c.626-29T>A (n.626-29T>A)
c.104-29T>A (n.104-29T>A)
c.668-29T>A (n.668-29T>A)
c.-164-29T>A (n.-164-29T>A)
 gnomAD v4
12g.51914410T>CCA2036268876ACVRL1c.356-29T>C (n.356-29T>C)
c.626-29T>C (n.626-29T>C)
c.104-29T>C (n.104-29T>C)
c.668-29T>C (n.668-29T>C)
c.-164-29T>C (n.-164-29T>C)
 dbSNP gnomAD v4
12g.51914410T=CA2036268874ACVRL1c.356-29T= (n.356-29T=)
c.626-29T= (n.626-29T=)
c.104-29T= (n.104-29T=)
c.668-29T= (n.668-29T=)
c.-164-29T= (n.-164-29T=)
12g.51914412A>CCA2618856398ACVRL1c.356-27A>C (n.356-27A>C)
c.626-27A>C (n.626-27A>C)
c.104-27A>C (n.104-27A>C)
c.668-27A>C (n.668-27A>C)
c.-164-27A>C (n.-164-27A>C)
 gnomAD v4
12g.51914413C>ACA605051786ACVRL1c.356-26C>A (n.356-26C>A)
c.626-26C>A (n.626-26C>A)
c.104-26C>A (n.104-26C>A)
c.668-26C>A (n.668-26C>A)
c.-164-26C>A (n.-164-26C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51914413C=CA2036268880ACVRL1c.356-26C= (n.356-26C=)
c.626-26C= (n.626-26C=)
c.104-26C= (n.104-26C=)
c.668-26C= (n.668-26C=)
c.-164-26C= (n.-164-26C=)
12g.51914413C>TCA6572955ACVRL1c.356-26C>T (n.356-26C>T)
c.626-26C>T (n.626-26C>T)
c.104-26C>T (n.104-26C>T)
c.668-26C>T (n.668-26C>T)
c.-164-26C>T (n.-164-26C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914414C>ACA6572956ACVRL1c.356-25C>A (n.356-25C>A)
c.626-25C>A (n.626-25C>A)
c.104-25C>A (n.104-25C>A)
c.668-25C>A (n.668-25C>A)
c.-164-25C>A (n.-164-25C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914414C=CA2036268883ACVRL1c.356-25C= (n.356-25C=)
c.626-25C= (n.626-25C=)
c.104-25C= (n.104-25C=)
c.668-25C= (n.668-25C=)
c.-164-25C= (n.-164-25C=)
12g.51914417C>TCA2575161446ACVRL1c.356-22C>T (n.356-22C>T)
c.626-22C>T (n.626-22C>T)
c.104-22C>T (n.104-22C>T)
c.668-22C>T (n.668-22C>T)
c.-164-22C>T (n.-164-22C>T)
12g.51914418A=CA2036268885ACVRL1c.356-21A= (n.356-21A=)
c.626-21A= (n.626-21A=)
c.104-21A= (n.104-21A=)
c.668-21A= (n.668-21A=)
c.-164-21A= (n.-164-21A=)
12g.51914418A>CCA6572957ACVRL1c.356-21A>C (n.356-21A>C)
c.626-21A>C (n.626-21A>C)
c.104-21A>C (n.104-21A>C)
c.668-21A>C (n.668-21A>C)
c.-164-21A>C (n.-164-21A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914419C>ACA236363352ACVRL1c.356-20C>A (n.356-20C>A)
c.626-20C>A (n.626-20C>A)
c.104-20C>A (n.104-20C>A)
c.668-20C>A (n.668-20C>A)
c.-164-20C>A (n.-164-20C>A)
 dbSNP
12g.51914419C=CA2036268902ACVRL1c.356-20C= (n.356-20C=)
c.626-20C= (n.626-20C=)
c.104-20C= (n.104-20C=)
c.668-20C= (n.668-20C=)
c.-164-20C= (n.-164-20C=)
12g.51914419C>TCA2575161447ACVRL1c.356-20C>T (n.356-20C>T)
c.626-20C>T (n.626-20C>T)
c.104-20C>T (n.104-20C>T)
c.668-20C>T (n.668-20C>T)
c.-164-20C>T (n.-164-20C>T)
12g.51914420C=CA2036268905ACVRL1c.356-19C= (n.356-19C=)
c.626-19C= (n.626-19C=)
c.104-19C= (n.104-19C=)
c.668-19C= (n.668-19C=)
c.-164-19C= (n.-164-19C=)
12g.51914420C>TCA605051789ACVRL1c.356-19C>T (n.356-19C>T)
c.626-19C>T (n.626-19C>T)
c.104-19C>T (n.104-19C>T)
c.668-19C>T (n.668-19C>T)
c.-164-19C>T (n.-164-19C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51914421T>CCA2618856412ACVRL1c.356-18T>C (n.356-18T>C)
c.626-18T>C (n.626-18T>C)
c.104-18T>C (n.104-18T>C)
c.668-18T>C (n.668-18T>C)
c.-164-18T>C (n.-164-18T>C)
 gnomAD v4
12g.51914423C=CA2036268909ACVRL1c.356-16C= (n.356-16C=)
c.626-16C= (n.626-16C=)
c.104-16C= (n.104-16C=)
c.668-16C= (n.668-16C=)
c.-164-16C= (n.-164-16C=)
12g.51914423C>TCA6572958ACVRL1c.356-16C>T (n.356-16C>T)
c.626-16C>T (n.626-16C>T)
c.104-16C>T (n.104-16C>T)
c.668-16C>T (n.668-16C>T)
c.-164-16C>T (n.-164-16C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914426delCA2726350389ACVRL1c.356-13del (n.356-13del)
c.626-13del (n.626-13del)
c.104-13del (n.104-13del)
c.668-13del (n.668-13del)
c.-164-13del (n.-164-13del)
 dbSNP
12g.51914424C>TCA2575161448ACVRL1c.356-15C>T (n.356-15C>T)
c.626-15C>T (n.626-15C>T)
c.104-15C>T (n.104-15C>T)
c.668-15C>T (n.668-15C>T)
c.-164-15C>T (n.-164-15C>T)
12g.51914427T>CCA6572959ACVRL1c.356-12T>C (n.356-12T>C)
c.626-12T>C (n.626-12T>C)
c.104-12T>C (n.104-12T>C)
c.668-12T>C (n.668-12T>C)
c.-164-12T>C (n.-164-12T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914427T=CA2036268910ACVRL1c.356-12T= (n.356-12T=)
c.626-12T= (n.626-12T=)
c.104-12T= (n.104-12T=)
c.668-12T= (n.668-12T=)
c.-164-12T= (n.-164-12T=)
12g.51914429T>CCA2618856422ACVRL1c.356-10T>C (n.356-10T>C)
c.626-10T>C (n.626-10T>C)
c.104-10T>C (n.104-10T>C)
c.668-10T>C (n.668-10T>C)
c.-164-10T>C (n.-164-10T>C)
 gnomAD v4
12g.51914430G>ACA916081667ACVRL1c.356-9G>A (n.356-9G>A)
c.626-9G>A (n.626-9G>A)
c.104-9G>A (n.104-9G>A)
c.668-9G>A (n.668-9G>A)
c.-164-9G>A (n.-164-9G>A)
 ClinVar dbSNP
12g.51914430G=CA2036268914ACVRL1c.356-9G= (n.356-9G=)
c.626-9G= (n.626-9G=)
c.104-9G= (n.104-9G=)
c.668-9G= (n.668-9G=)
c.-164-9G= (n.-164-9G=)
12g.51914430_51914442delCA2695216725ACVRL1c.356-9_359del
c.626-9_629del
c.104-9_107del
c.668-9_671del
c.-164-9_-161del
12g.51914434_51914447delCA2695216726ACVRL1c.356-5_364del
c.626-5_634del
c.104-5_112del
c.668-5_676del
c.-164-5_-156del
12g.51914432C>ACA2618856428ACVRL1c.356-7C>A (n.356-7C>A)
c.626-7C>A (n.626-7C>A)
c.104-7C>A (n.104-7C>A)
c.668-7C>A (n.668-7C>A)
c.-164-7C>A (n.-164-7C>A)
 gnomAD v4
12g.51914436C=CA2036268918ACVRL1c.356-3C= (n.356-3C=)
c.626-3C= (n.626-3C=)
c.104-3C= (n.104-3C=)
c.668-3C= (n.668-3C=)
c.-164-3C= (n.-164-3C=)
12g.51914436C>GCA645509324ACVRL1c.356-3C>G (n.356-3C>G)
c.626-3C>G (n.626-3C>G)
c.104-3C>G (n.104-3C>G)
c.668-3C>G (n.668-3C>G)
c.-164-3C>G (n.-164-3C>G)
 ClinVar dbSNP
12g.51914437A=CA2036268920ACVRL1c.356-2A= (n.356-2A=)
c.626-2A= (n.626-2A=)
c.104-2A= (n.104-2A=)
c.668-2A= (n.668-2A=)
c.-164-2A= (n.-164-2A=)
12g.51914437A>CCA384899938ACVRL1c.356-2A>C (n.356-2A>C)
c.626-2A>C (n.626-2A>C)
c.104-2A>C (n.104-2A>C)
c.668-2A>C (n.668-2A>C)
c.-164-2A>C (n.-164-2A>C)
12g.51914437A>GCA384899939ACVRL1c.356-2A>G (n.356-2A>G)
c.626-2A>G (n.626-2A>G)
c.104-2A>G (n.104-2A>G)
c.668-2A>G (n.668-2A>G)
c.-164-2A>G (n.-164-2A>G)
 ClinVar dbSNP
12g.51914437A>TCA384899940ACVRL1c.356-2A>T (n.356-2A>T)
c.626-2A>T (n.626-2A>T)
c.104-2A>T (n.104-2A>T)
c.668-2A>T (n.668-2A>T)
c.-164-2A>T (n.-164-2A>T)
12g.51914438G>ACA384899941ACVRL1c.356-1G>A (n.356-1G>A)
c.626-1G>A (n.626-1G>A)
c.104-1G>A (n.104-1G>A)
c.668-1G>A (n.668-1G>A)
c.-164-1G>A (n.-164-1G>A)
 ClinVar dbSNP
12g.51914438G>CCA384899942ACVRL1c.356-1G>C (n.356-1G>C)
c.626-1G>C (n.626-1G>C)
c.104-1G>C (n.104-1G>C)
c.668-1G>C (n.668-1G>C)
c.-164-1G>C (n.-164-1G>C)
12g.51914438G>TCA384899943ACVRL1c.356-1G>T (n.356-1G>T)
c.626-1G>T (n.626-1G>T)
c.104-1G>T (n.104-1G>T)
c.668-1G>T (n.668-1G>T)
c.-164-1G>T (n.-164-1G>T)
12g.51914439G>ACA384899946ACVRL1c.356G>A (p.Gly119Glu)
c.626G>A (p.Gly209Glu)
c.104G>A (p.Gly35Glu)
c.668G>A (p.Gly223Glu)
c.-164G>A (n.-164G>A)
 gnomAD v4
12g.51914439G>CCA384899944ACVRL1c.356G>C (p.Gly119Ala)
c.626G>C (p.Gly209Ala)
c.104G>C (p.Gly35Ala)
c.668G>C (p.Gly223Ala)
c.-164G>C (n.-164G>C)
12g.51914439G>TCA384899945ACVRL1c.356G>T (p.Gly119Val)
c.626G>T (p.Gly209Val)
c.104G>T (p.Gly35Val)
c.668G>T (p.Gly223Val)
c.-164G>T (n.-164G>T)
12g.51914440A>CCA479807002ACVRL1c.357A>C (p.Gly119=)
c.627A>C (p.Gly209=)
c.105A>C (p.Gly35=)
c.669A>C (p.Gly223=)
c.-163A>C (n.-163A>C)
12g.51914440A>GCA479807006ACVRL1c.357A>G (p.Gly119=)
c.627A>G (p.Gly209=)
c.105A>G (p.Gly35=)
c.669A>G (p.Gly223=)
c.-163A>G (n.-163A>G)
12g.51914440A>TCA479807008ACVRL1c.357A>T (p.Gly119=)
c.627A>T (p.Gly209=)
c.105A>T (p.Gly35=)
c.669A>T (p.Gly223=)
c.-163A>T (n.-163A>T)
12g.51914441A>CCA384899947ACVRL1c.358A>C (p.Lys120Gln)
c.628A>C (p.Lys210Gln)
c.106A>C (p.Lys36Gln)
c.670A>C (p.Lys224Gln)
c.-162A>C (n.-162A>C)
12g.51914441A>GCA384899948ACVRL1c.358A>G (p.Lys120Glu)
c.628A>G (p.Lys210Glu)
c.106A>G (p.Lys36Glu)
c.670A>G (p.Lys224Glu)
c.-162A>G (n.-162A>G)
12g.51914441A>TCA384899949ACVRL1c.358A>T (p.Lys120Ter)
c.628A>T (p.Lys210Ter)
c.106A>T (p.Lys36Ter)
c.670A>T (p.Lys224Ter)
c.-162A>T (n.-162A>T)
12g.51914442A>CCA384899950ACVRL1c.359A>C (p.Lys120Thr)
c.629A>C (p.Lys210Thr)
c.107A>C (p.Lys36Thr)
c.671A>C (p.Lys224Thr)
c.-161A>C (n.-161A>C)
12g.51914442A>GCA384899951ACVRL1c.359A>G (p.Lys120Arg)
c.629A>G (p.Lys210Arg)
c.107A>G (p.Lys36Arg)
c.671A>G (p.Lys224Arg)
c.-161A>G (n.-161A>G)
12g.51914442A>TCA384899952ACVRL1c.359A>T (p.Lys120Ile)
c.629A>T (p.Lys210Ile)
c.107A>T (p.Lys36Ile)
c.671A>T (p.Lys224Ile)
c.-161A>T (n.-161A>T)
12g.51914443A>CCA384899953ACVRL1c.360A>C (p.Lys120Asn)
c.630A>C (p.Lys210Asn)
c.108A>C (p.Lys36Asn)
c.672A>C (p.Lys224Asn)
c.-160A>C (n.-160A>C)
12g.51914443A>GCA479807034ACVRL1c.360A>G (p.Lys120=)
c.630A>G (p.Lys210=)
c.108A>G (p.Lys36=)
c.672A>G (p.Lys224=)
c.-160A>G (n.-160A>G)
12g.51914443A>TCA384899954ACVRL1c.360A>T (p.Lys120Asn)
c.630A>T (p.Lys210Asn)
c.108A>T (p.Lys36Asn)
c.672A>T (p.Lys224Asn)
c.-160A>T (n.-160A>T)
12g.51914444G>ACA384899955ACVRL1c.361G>A (p.Gly121Ser)
c.631G>A (p.Gly211Ser)
c.109G>A (p.Gly37Ser)
c.673G>A (p.Gly225Ser)
c.-159G>A (n.-159G>A)
 ClinVar
12g.51914444G>CCA384899956ACVRL1c.361G>C (p.Gly121Arg)
c.631G>C (p.Gly211Arg)
c.109G>C (p.Gly37Arg)
c.673G>C (p.Gly225Arg)
c.-159G>C (n.-159G>C)
12g.51914444G=CA2036268924ACVRL1c.361G= (p.Gly121=)
c.631G= (p.Gly211=)
c.109G= (p.Gly37=)
c.673G= (p.Gly225=)
c.-159G= (n.-159G=)
12g.51914444G>TCA384899957ACVRL1c.361G>T (p.Gly121Cys)
c.631G>T (p.Gly211Cys)
c.109G>T (p.Gly37Cys)
c.673G>T (p.Gly225Cys)
c.-159G>T (n.-159G>T)
 ClinVar dbSNP
12g.51914445G>ACA119406ACVRL1c.362G>A (p.Gly121Asp)
c.632G>A (p.Gly211Asp)
c.110G>A (p.Gly37Asp)
c.674G>A (p.Gly225Asp)
c.-158G>A (n.-158G>A)
 ClinVar dbSNP gnomAD v4
12g.51914445G>CCA384899959ACVRL1c.362G>C (p.Gly121Ala)
c.632G>C (p.Gly211Ala)
c.110G>C (p.Gly37Ala)
c.674G>C (p.Gly225Ala)
c.-158G>C (n.-158G>C)
12g.51914445G=CA2036268927ACVRL1c.362G= (p.Gly121=)
c.632G= (p.Gly211=)
c.110G= (p.Gly37=)
c.674G= (p.Gly225=)
c.-158G= (n.-158G=)
12g.51914445G>TCA384899958ACVRL1c.362G>T (p.Gly121Val)
c.632G>T (p.Gly211Val)
c.110G>T (p.Gly37Val)
c.674G>T (p.Gly225Val)
c.-158G>T (n.-158G>T)
 gnomAD v4
12g.51914446C>ACA479807054ACVRL1c.363C>A (p.Gly121=)
c.633C>A (p.Gly211=)
c.111C>A (p.Gly37=)
c.675C>A (p.Gly225=)
c.-157C>A (n.-157C>A)
12g.51914446C=CA2036268934ACVRL1c.363C= (p.Gly121=)
c.633C= (p.Gly211=)
c.111C= (p.Gly37=)
c.675C= (p.Gly225=)
c.-157C= (n.-157C=)
12g.51914446C>GCA479807058ACVRL1c.363C>G (p.Gly121=)
c.633C>G (p.Gly211=)
c.111C>G (p.Gly37=)
c.675C>G (p.Gly225=)
c.-157C>G (n.-157C>G)
 COSMIC
12g.51914446C>TCA479807060ACVRL1c.363C>T (p.Gly121=)
c.633C>T (p.Gly211=)
c.111C>T (p.Gly37=)
c.675C>T (p.Gly225=)
c.-157C>T (n.-157C>T)
 ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51914447C>ACA384899960ACVRL1c.364C>A (p.Arg122Ser)
c.634C>A (p.Arg212Ser)
c.112C>A (p.Arg38Ser)
c.676C>A (p.Arg226Ser)
c.-156C>A (n.-156C>A)
12g.51914447C=CA2036268938ACVRL1c.364C= (p.Arg122=)
c.634C= (p.Arg212=)
c.112C= (p.Arg38=)
c.676C= (p.Arg226=)
c.-156C= (n.-156C=)
12g.51914447C>GCA384899961ACVRL1c.364C>G (p.Arg122Gly)
c.634C>G (p.Arg212Gly)
c.112C>G (p.Arg38Gly)
c.676C>G (p.Arg226Gly)
c.-156C>G (n.-156C>G)
12g.51914447C>TCA384899962ACVRL1c.364C>T (p.Arg122Cys)
c.634C>T (p.Arg212Cys)
c.112C>T (p.Arg38Cys)
c.676C>T (p.Arg226Cys)
c.-156C>T (n.-156C>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51914448G>ACA384899963ACVRL1c.365G>A (p.Arg122His)
c.635G>A (p.Arg212His)
c.113G>A (p.Arg38His)
c.677G>A (p.Arg226His)
c.-155G>A (n.-155G>A)
 dbSNP gnomAD v4
12g.51914448G>CCA384899964ACVRL1c.365G>C (p.Arg122Pro)
c.635G>C (p.Arg212Pro)
c.113G>C (p.Arg38Pro)
c.677G>C (p.Arg226Pro)
c.-155G>C (n.-155G>C)
12g.51914448G=CA2036268942ACVRL1c.365G= (p.Arg122=)
c.635G= (p.Arg212=)
c.113G= (p.Arg38=)
c.677G= (p.Arg226=)
c.-155G= (n.-155G=)
12g.51914448G>TCA384899965ACVRL1c.365G>T (p.Arg122Leu)
c.635G>T (p.Arg212Leu)
c.113G>T (p.Arg38Leu)
c.677G>T (p.Arg226Leu)
c.-155G>T (n.-155G>T)
12g.51914449C>ACA479807079ACVRL1c.366C>A (p.Arg122=)
c.636C>A (p.Arg212=)
c.114C>A (p.Arg38=)
c.678C>A (p.Arg226=)
c.-154C>A (n.-154C>A)
12g.51914449C>GCA479807083ACVRL1c.366C>G (p.Arg122=)
c.636C>G (p.Arg212=)
c.114C>G (p.Arg38=)
c.678C>G (p.Arg226=)
c.-154C>G (n.-154C>G)
12g.51914449C>TCA479807090ACVRL1c.366C>T (p.Arg122=)
c.636C>T (p.Arg212=)
c.114C>T (p.Arg38=)
c.678C>T (p.Arg226=)
c.-154C>T (n.-154C>T)
 COSMIC COSMIC
12g.51914450T>ACA384899968ACVRL1c.367T>A (p.Tyr123Asn)
c.637T>A (p.Tyr213Asn)
c.115T>A (p.Tyr39Asn)
c.679T>A (p.Tyr227Asn)
c.-153T>A (n.-153T>A)
12g.51914450T>CCA384899966ACVRL1c.367T>C (p.Tyr123His)
c.637T>C (p.Tyr213His)
c.115T>C (p.Tyr39His)
c.679T>C (p.Tyr227His)
c.-153T>C (n.-153T>C)
 gnomAD v4
12g.51914450T>GCA384899967ACVRL1c.367T>G (p.Tyr123Asp)
c.637T>G (p.Tyr213Asp)
c.115T>G (p.Tyr39Asp)
c.679T>G (p.Tyr227Asp)
c.-153T>G (n.-153T>G)
12g.51914451A>CCA384899969ACVRL1c.368A>C (p.Tyr123Ser)
c.638A>C (p.Tyr213Ser)
c.116A>C (p.Tyr39Ser)
c.680A>C (p.Tyr227Ser)
c.-152A>C (n.-152A>C)
12g.51914451A>GCA384899970ACVRL1c.368A>G (p.Tyr123Cys)
c.638A>G (p.Tyr213Cys)
c.116A>G (p.Tyr39Cys)
c.680A>G (p.Tyr227Cys)
c.-152A>G (n.-152A>G)
12g.51914451A>TCA384899971ACVRL1c.368A>T (p.Tyr123Phe)
c.638A>T (p.Tyr213Phe)
c.116A>T (p.Tyr39Phe)
c.680A>T (p.Tyr227Phe)
c.-152A>T (n.-152A>T)
12g.51914452T>ACA384899972ACVRL1c.369T>A (p.Tyr123Ter)
c.639T>A (p.Tyr213Ter)
c.117T>A (p.Tyr39Ter)
c.681T>A (p.Tyr227Ter)
c.-151T>A (n.-151T>A)
 ClinVar
12g.51914452T>CCA236363364ACVRL1c.369T>C (p.Tyr123=)
c.639T>C (p.Tyr213=)
c.117T>C (p.Tyr39=)
c.681T>C (p.Tyr227=)
c.-151T>C (n.-151T>C)
 dbSNP gnomAD v4
12g.51914452T>GCA384899973ACVRL1c.369T>G (p.Tyr123Ter)
c.639T>G (p.Tyr213Ter)
c.117T>G (p.Tyr39Ter)
c.681T>G (p.Tyr227Ter)
c.-151T>G (n.-151T>G)
 ClinVar dbSNP
12g.51914452T=CA2036268946ACVRL1c.369T= (p.Tyr123=)
c.639T= (p.Tyr213=)
c.117T= (p.Tyr39=)
c.681T= (p.Tyr227=)
c.-151T= (n.-151T=)
12g.51914452_51914453delinsTGCA2036268949ACVRL1c.369_370delinsTG (p.Tyr123=)
c.639_640delinsTG (p.Tyr213=)
c.117_118delinsTG (p.Tyr39=)
c.681_682delinsTG (p.Tyr227=)
c.-151_-150delinsTG (n.-151_-150delinsTG)
12g.51914453G>ACA384899974ACVRL1c.370G>A (p.Gly124Ser)
c.640G>A (p.Gly214Ser)
c.118G>A (p.Gly40Ser)
c.682G>A (p.Gly228Ser)
c.-150G>A (n.-150G>A)
12g.51914453G>CCA384899976ACVRL1c.370G>C (p.Gly124Arg)
c.640G>C (p.Gly214Arg)
c.118G>C (p.Gly40Arg)
c.682G>C (p.Gly228Arg)
c.-150G>C (n.-150G>C)
12g.51914453G>TCA384899975ACVRL1c.370G>T (p.Gly124Cys)
c.640G>T (p.Gly214Cys)
c.118G>T (p.Gly40Cys)
c.682G>T (p.Gly228Cys)
c.-150G>T (n.-150G>T)
12g.51914454delCA658656304ACVRL1c.371del (p.Gly124AlafsTer?)
c.641del (p.Gly214AlafsTer?)
c.119del (p.Gly40AlafsTer?)
c.683del (p.Gly228AlafsTer?)
c.-149del (n.-149del)
 ClinVar dbSNP
12g.51914454G>ACA384899977ACVRL1c.371G>A (p.Gly124Asp)
c.641G>A (p.Gly214Asp)
c.119G>A (p.Gly40Asp)
c.683G>A (p.Gly228Asp)
c.-149G>A (n.-149G>A)
12g.51914454G>CCA384899978ACVRL1c.371G>C (p.Gly124Ala)
c.641G>C (p.Gly214Ala)
c.119G>C (p.Gly40Ala)
c.683G>C (p.Gly228Ala)
c.-149G>C (n.-149G>C)
12g.51914454G>TCA384899979ACVRL1c.371G>T (p.Gly124Val)
c.641G>T (p.Gly214Val)
c.119G>T (p.Gly40Val)
c.683G>T (p.Gly228Val)
c.-149G>T (n.-149G>T)
 ClinVar gnomAD v4
12g.51914455C>ACA479807119ACVRL1c.372C>A (p.Gly124=)
c.642C>A (p.Gly214=)
c.120C>A (p.Gly40=)
c.684C>A (p.Gly228=)
c.-148C>A (n.-148C>A)
12g.51914455C=CA2036268958ACVRL1c.372C= (p.Gly124=)
c.642C= (p.Gly214=)
c.120C= (p.Gly40=)
c.684C= (p.Gly228=)
c.-148C= (n.-148C=)
12g.51914455C>GCA479807121ACVRL1c.372C>G (p.Gly124=)
c.642C>G (p.Gly214=)
c.120C>G (p.Gly40=)
c.684C>G (p.Gly228=)
c.-148C>G (n.-148C>G)
12g.51914455C>TCA6572960ACVRL1c.372C>T (p.Gly124=)
c.642C>T (p.Gly214=)
c.120C>T (p.Gly40=)
c.684C>T (p.Gly228=)
c.-148C>T (n.-148C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914456G>ACA6572961ACVRL1c.373G>A (p.Glu125Lys)
c.643G>A (p.Glu215Lys)
c.121G>A (p.Glu41Lys)
c.685G>A (p.Glu229Lys)
c.-147G>A (n.-147G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914456G>CCA384899980ACVRL1c.373G>C (p.Glu125Gln)
c.643G>C (p.Glu215Gln)
c.121G>C (p.Glu41Gln)
c.685G>C (p.Glu229Gln)
c.-147G>C (n.-147G>C)
12g.51914456G=CA2036268963ACVRL1c.373G= (p.Glu125=)
c.643G= (p.Glu215=)
c.121G= (p.Glu41=)
c.685G= (p.Glu229=)
c.-147G= (n.-147G=)
12g.51914456G>TCA384899981ACVRL1c.373G>T (p.Glu125Ter)
c.643G>T (p.Glu215Ter)
c.121G>T (p.Glu41Ter)
c.685G>T (p.Glu229Ter)
c.-147G>T (n.-147G>T)
 ClinVar
12g.51914457A>CCA384899982ACVRL1c.374A>C (p.Glu125Ala)
c.644A>C (p.Glu215Ala)
c.122A>C (p.Glu41Ala)
c.686A>C (p.Glu229Ala)
c.-146A>C (n.-146A>C)
12g.51914457A>GCA384899983ACVRL1c.374A>G (p.Glu125Gly)
c.644A>G (p.Glu215Gly)
c.122A>G (p.Glu41Gly)
c.686A>G (p.Glu229Gly)
c.-146A>G (n.-146A>G)
12g.51914457A>TCA384899984ACVRL1c.374A>T (p.Glu125Val)
c.644A>T (p.Glu215Val)
c.122A>T (p.Glu41Val)
c.686A>T (p.Glu229Val)
c.-146A>T (n.-146A>T)
12g.51914458A>CCA384899985ACVRL1c.375A>C (p.Glu125Asp)
c.645A>C (p.Glu215Asp)
c.123A>C (p.Glu41Asp)
c.687A>C (p.Glu229Asp)
c.-145A>C (n.-145A>C)
12g.51914458A>GCA479807148ACVRL1c.375A>G (p.Glu125=)
c.645A>G (p.Glu215=)
c.123A>G (p.Glu41=)
c.687A>G (p.Glu229=)
c.-145A>G (n.-145A>G)
12g.51914458A>TCA384899986ACVRL1c.375A>T (p.Glu125Asp)
c.645A>T (p.Glu215Asp)
c.123A>T (p.Glu41Asp)
c.687A>T (p.Glu229Asp)
c.-145A>T (n.-145A>T)
12g.51914459G>ACA384899988ACVRL1c.376G>A (p.Val126Met)
c.646G>A (p.Val216Met)
c.124G>A (p.Val42Met)
c.688G>A (p.Val230Met)
c.-144G>A (n.-144G>A)
12g.51914459G>CCA384899989ACVRL1c.376G>C (p.Val126Leu)
c.646G>C (p.Val216Leu)
c.124G>C (p.Val42Leu)
c.688G>C (p.Val230Leu)
c.-144G>C (n.-144G>C)
12g.51914459G>TCA384899987ACVRL1c.376G>T (p.Val126Leu)
c.646G>T (p.Val216Leu)
c.124G>T (p.Val42Leu)
c.688G>T (p.Val230Leu)
c.-144G>T (n.-144G>T)
12g.51914459_51914470dupCA2573148780ACVRL1c.376_387dup (p.Gly129_Leu130insValTrpArgGly)
c.646_657dup (p.Gly219_Leu220insValTrpArgGly)
c.124_135dup (p.Gly45_Leu46insValTrpArgGly)
c.688_699dup (p.Gly233_Leu234insValTrpArgGly)
c.-144_-133dup (n.-144_-133dup)
 ClinVar dbSNP
12g.51914460T>ACA384899991ACVRL1c.377T>A (p.Val126Glu)
c.647T>A (p.Val216Glu)
c.125T>A (p.Val42Glu)
c.689T>A (p.Val230Glu)
c.-143T>A (n.-143T>A)
12g.51914460T>CCA384899990ACVRL1c.377T>C (p.Val126Ala)
c.647T>C (p.Val216Ala)
c.125T>C (p.Val42Ala)
c.689T>C (p.Val230Ala)
c.-143T>C (n.-143T>C)
12g.51914460T>GCA384899992ACVRL1c.377T>G (p.Val126Gly)
c.647T>G (p.Val216Gly)
c.125T>G (p.Val42Gly)
c.689T>G (p.Val230Gly)
c.-143T>G (n.-143T>G)
 ClinVar dbSNP
12g.51914460T=CA2036268965ACVRL1c.377T= (p.Val126=)
c.647T= (p.Val216=)
c.125T= (p.Val42=)
c.689T= (p.Val230=)
c.-143T= (n.-143T=)
12g.51914461G>ACA479807181ACVRL1c.378G>A (p.Val126=)
c.648G>A (p.Val216=)
c.126G>A (p.Val42=)
c.690G>A (p.Val230=)
c.-142G>A (n.-142G>A)
12g.51914461G>CCA479807182ACVRL1c.378G>C (p.Val126=)
c.648G>C (p.Val216=)
c.126G>C (p.Val42=)
c.690G>C (p.Val230=)
c.-142G>C (n.-142G>C)
12g.51914461G>TCA479807183ACVRL1c.378G>T (p.Val126=)
c.648G>T (p.Val216=)
c.126G>T (p.Val42=)
c.690G>T (p.Val230=)
c.-142G>T (n.-142G>T)
12g.51914462T>ACA384899993ACVRL1c.379T>A (p.Trp127Arg)
c.649T>A (p.Trp217Arg)
c.127T>A (p.Trp43Arg)
c.691T>A (p.Trp231Arg)
c.-141T>A (n.-141T>A)
12g.51914462T>CCA384899995ACVRL1c.379T>C (p.Trp127Arg)
c.649T>C (p.Trp217Arg)
c.127T>C (p.Trp43Arg)
c.691T>C (p.Trp231Arg)
c.-141T>C (n.-141T>C)
12g.51914462T>GCA384899994ACVRL1c.379T>G (p.Trp127Gly)
c.649T>G (p.Trp217Gly)
c.127T>G (p.Trp43Gly)
c.691T>G (p.Trp231Gly)
c.-141T>G (n.-141T>G)
 ClinVar
12g.51914463G>ACA384899996ACVRL1c.380G>A (p.Trp127Ter)
c.650G>A (p.Trp217Ter)
c.128G>A (p.Trp43Ter)
c.692G>A (p.Trp231Ter)
c.-140G>A (n.-140G>A)
12g.51914463G>CCA384899997ACVRL1c.380G>C (p.Trp127Ser)
c.650G>C (p.Trp217Ser)
c.128G>C (p.Trp43Ser)
c.692G>C (p.Trp231Ser)
c.-140G>C (n.-140G>C)
12g.51914463G>TCA384899998ACVRL1c.380G>T (p.Trp127Leu)
c.650G>T (p.Trp217Leu)
c.128G>T (p.Trp43Leu)
c.692G>T (p.Trp231Leu)
c.-140G>T (n.-140G>T)
12g.51914464delCA2580086469ACVRL1c.381del (p.Trp127CysfsTer?)
c.651del (p.Trp217CysfsTer?)
c.129del (p.Trp43CysfsTer?)
c.693del (p.Trp231CysfsTer?)
c.-139del (n.-139del)
 ClinVar
12g.51914464G>ACA384899999ACVRL1c.381G>A (p.Trp127Ter)
c.651G>A (p.Trp217Ter)
c.129G>A (p.Trp43Ter)
c.693G>A (p.Trp231Ter)
c.-139G>A (n.-139G>A)
 ClinVar dbSNP
12g.51914464G>CCA384900000ACVRL1c.381G>C (p.Trp127Cys)
c.651G>C (p.Trp217Cys)
c.129G>C (p.Trp43Cys)
c.693G>C (p.Trp231Cys)
c.-139G>C (n.-139G>C)
12g.51914464G=CA2036268972ACVRL1c.381G= (p.Trp127=)
c.651G= (p.Trp217=)
c.129G= (p.Trp43=)
c.693G= (p.Trp231=)
c.-139G= (n.-139G=)
12g.51914464G>TCA384900001ACVRL1c.381G>T (p.Trp127Cys)
c.651G>T (p.Trp217Cys)
c.129G>T (p.Trp43Cys)
c.693G>T (p.Trp231Cys)
c.-139G>T (n.-139G>T)
12g.51914465C>ACA479807202ACVRL1c.382C>A (p.Arg128=)
c.652C>A (p.Arg218=)
c.130C>A (p.Arg44=)
c.694C>A (p.Arg232=)
c.-138C>A (n.-138C>A)
12g.51914465C=CA2036268977ACVRL1c.382C= (p.Arg128=)
c.652C= (p.Arg218=)
c.130C= (p.Arg44=)
c.694C= (p.Arg232=)
c.-138C= (n.-138C=)
12g.51914465C>GCA384900002ACVRL1c.382C>G (p.Arg128Gly)
c.652C>G (p.Arg218Gly)
c.130C>G (p.Arg44Gly)
c.694C>G (p.Arg232Gly)
c.-138C>G (n.-138C>G)
12g.51914465C>TCA6572962ACVRL1c.382C>T (p.Arg128Trp)
c.652C>T (p.Arg218Trp)
c.130C>T (p.Arg44Trp)
c.694C>T (p.Arg232Trp)
c.-138C>T (n.-138C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914466G>ACA6572963ACVRL1c.383G>A (p.Arg128Gln)
c.653G>A (p.Arg218Gln)
c.131G>A (p.Arg44Gln)
c.695G>A (p.Arg232Gln)
c.-137G>A (n.-137G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914466G>CCA16614158ACVRL1c.383G>C (p.Arg128Pro)
c.653G>C (p.Arg218Pro)
c.131G>C (p.Arg44Pro)
c.695G>C (p.Arg232Pro)
c.-137G>C (n.-137G>C)
 ClinVar dbSNP
12g.51914466G=CA2036268988ACVRL1c.383G= (p.Arg128=)
c.653G= (p.Arg218=)
c.131G= (p.Arg44=)
c.695G= (p.Arg232=)
c.-137G= (n.-137G=)
12g.51914466G>TCA384900003ACVRL1c.383G>T (p.Arg128Leu)
c.653G>T (p.Arg218Leu)
c.131G>T (p.Arg44Leu)
c.695G>T (p.Arg232Leu)
c.-137G>T (n.-137G>T)
12g.51914466_51914467delinsCCCA645293884ACVRL1c.383_384delinsCC (p.Arg128Pro)
c.653_654delinsCC (p.Arg218Pro)
c.131_132delinsCC (p.Arg44Pro)
c.695_696delinsCC (p.Arg232Pro)
c.-137_-136delinsCC (n.-137_-136delinsCC)
 ClinVar
12g.51914469delCA645594552ACVRL1c.386del (p.Gly129AlafsTer?)
c.656del (p.Gly219AlafsTer?)
c.134del (p.Gly45AlafsTer?)
c.698del (p.Gly233AlafsTer?)
c.-134del (n.-134del)
 COSMIC COSMIC
12g.51914467G>ACA479807233ACVRL1c.384G>A (p.Arg128=)
c.654G>A (p.Arg218=)
c.132G>A (p.Arg44=)
c.696G>A (p.Arg232=)
c.-136G>A (n.-136G>A)
12g.51914467G>CCA479807237ACVRL1c.384G>C (p.Arg128=)
c.654G>C (p.Arg218=)
c.132G>C (p.Arg44=)
c.696G>C (p.Arg232=)
c.-136G>C (n.-136G>C)
12g.51914467G>TCA479807241ACVRL1c.384G>T (p.Arg128=)
c.654G>T (p.Arg218=)
c.132G>T (p.Arg44=)
c.696G>T (p.Arg232=)
c.-136G>T (n.-136G>T)
12g.51914468G>ACA384900006ACVRL1c.385G>A (p.Gly129Ser)
c.655G>A (p.Gly219Ser)
c.133G>A (p.Gly45Ser)
c.697G>A (p.Gly233Ser)
c.-135G>A (n.-135G>A)
12g.51914468G>CCA384900004ACVRL1c.385G>C (p.Gly129Arg)
c.655G>C (p.Gly219Arg)
c.133G>C (p.Gly45Arg)
c.697G>C (p.Gly233Arg)
c.-135G>C (n.-135G>C)
 ClinVar dbSNP
12g.51914468G=CA2036268994ACVRL1c.385G= (p.Gly129=)
c.655G= (p.Gly219=)
c.133G= (p.Gly45=)
c.697G= (p.Gly233=)
c.-135G= (n.-135G=)
12g.51914468G>TCA384900005ACVRL1c.385G>T (p.Gly129Cys)
c.655G>T (p.Gly219Cys)
c.133G>T (p.Gly45Cys)
c.697G>T (p.Gly233Cys)
c.-135G>T (n.-135G>T)
12g.51914469G>ACA384900007ACVRL1c.386G>A (p.Gly129Asp)
c.656G>A (p.Gly219Asp)
c.134G>A (p.Gly45Asp)
c.698G>A (p.Gly233Asp)
c.-134G>A (n.-134G>A)
12g.51914469G>CCA384900008ACVRL1c.386G>C (p.Gly129Ala)
c.656G>C (p.Gly219Ala)
c.134G>C (p.Gly45Ala)
c.698G>C (p.Gly233Ala)
c.-134G>C (n.-134G>C)
12g.51914469G>TCA384900009ACVRL1c.386G>T (p.Gly129Val)
c.656G>T (p.Gly219Val)
c.134G>T (p.Gly45Val)
c.698G>T (p.Gly233Val)
c.-134G>T (n.-134G>T)
12g.51914470C>ACA479807259ACVRL1c.387C>A (p.Gly129=)
c.657C>A (p.Gly219=)
c.135C>A (p.Gly45=)
c.699C>A (p.Gly233=)
c.-133C>A (n.-133C>A)
12g.51914470C=CA2036268996ACVRL1c.387C= (p.Gly129=)
c.657C= (p.Gly219=)
c.135C= (p.Gly45=)
c.699C= (p.Gly233=)
c.-133C= (n.-133C=)
12g.51914470C>GCA479807261ACVRL1c.387C>G (p.Gly129=)
c.657C>G (p.Gly219=)
c.135C>G (p.Gly45=)
c.699C>G (p.Gly233=)
c.-133C>G (n.-133C>G)
12g.51914470C>TCA6572964ACVRL1c.387C>T (p.Gly129=)
c.657C>T (p.Gly219=)
c.135C>T (p.Gly45=)
c.699C>T (p.Gly233=)
c.-133C>T (n.-133C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914471T>ACA384900010ACVRL1c.388T>A (p.Leu130Met)
c.658T>A (p.Leu220Met)
c.136T>A (p.Leu46Met)
c.700T>A (p.Leu234Met)
c.-132T>A (n.-132T>A)
12g.51914471T>CCA479807274ACVRL1c.388T>C (p.Leu130=)
c.658T>C (p.Leu220=)
c.136T>C (p.Leu46=)
c.700T>C (p.Leu234=)
c.-132T>C (n.-132T>C)
12g.51914471T>GCA384900011ACVRL1c.388T>G (p.Leu130Val)
c.658T>G (p.Leu220Val)
c.136T>G (p.Leu46Val)
c.700T>G (p.Leu234Val)
c.-132T>G (n.-132T>G)
12g.51914472T>ACA384900012ACVRL1c.389T>A (p.Leu130Ter)
c.659T>A (p.Leu220Ter)
c.137T>A (p.Leu46Ter)
c.701T>A (p.Leu234Ter)
c.-131T>A (n.-131T>A)
12g.51914472T>CCA384900013ACVRL1c.389T>C (p.Leu130Ser)
c.659T>C (p.Leu220Ser)
c.137T>C (p.Leu46Ser)
c.701T>C (p.Leu234Ser)
c.-131T>C (n.-131T>C)
12g.51914472T>GCA384900014ACVRL1c.389T>G (p.Leu130Trp)
c.659T>G (p.Leu220Trp)
c.137T>G (p.Leu46Trp)
c.701T>G (p.Leu234Trp)
c.-131T>G (n.-131T>G)
12g.51914473G>ACA479807289ACVRL1c.390G>A (p.Leu130=)
c.660G>A (p.Leu220=)
c.138G>A (p.Leu46=)
c.702G>A (p.Leu234=)
c.-130G>A (n.-130G>A)
12g.51914473G>CCA6572965ACVRL1c.390G>C (p.Leu130Phe)
c.660G>C (p.Leu220Phe)
c.138G>C (p.Leu46Phe)
c.702G>C (p.Leu234Phe)
c.-130G>C (n.-130G>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914473G=CA2036268999ACVRL1c.390G= (p.Leu130=)
c.660G= (p.Leu220=)
c.138G= (p.Leu46=)
c.702G= (p.Leu234=)
c.-130G= (n.-130G=)
12g.51914473G>TCA6572966ACVRL1c.390G>T (p.Leu130Phe)
c.660G>T (p.Leu220Phe)
c.138G>T (p.Leu46Phe)
c.702G>T (p.Leu234Phe)
c.-130G>T (n.-130G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914474T>ACA384900016ACVRL1c.391T>A (p.Trp131Arg)
c.661T>A (p.Trp221Arg)
c.139T>A (p.Trp47Arg)
c.703T>A (p.Trp235Arg)
c.-129T>A (n.-129T>A)
12g.51914474T>CCA384900017ACVRL1c.391T>C (p.Trp131Arg)
c.661T>C (p.Trp221Arg)
c.139T>C (p.Trp47Arg)
c.703T>C (p.Trp235Arg)
c.-129T>C (n.-129T>C)
12g.51914474T>GCA384900015ACVRL1c.391T>G (p.Trp131Gly)
c.661T>G (p.Trp221Gly)
c.139T>G (p.Trp47Gly)
c.703T>G (p.Trp235Gly)
c.-129T>G (n.-129T>G)
12g.51914475G>ACA384900018ACVRL1c.392G>A (p.Trp131Ter)
c.662G>A (p.Trp221Ter)
c.140G>A (p.Trp47Ter)
c.704G>A (p.Trp235Ter)
c.-128G>A (n.-128G>A)
12g.51914475G>CCA384900019ACVRL1c.392G>C (p.Trp131Ser)
c.662G>C (p.Trp221Ser)
c.140G>C (p.Trp47Ser)
c.704G>C (p.Trp235Ser)
c.-128G>C (n.-128G>C)
12g.51914475G>TCA384900020ACVRL1c.392G>T (p.Trp131Leu)
c.662G>T (p.Trp221Leu)
c.140G>T (p.Trp47Leu)
c.704G>T (p.Trp235Leu)
c.-128G>T (n.-128G>T)
12g.51914477_51914481delCA2695216731ACVRL1c.394_398del (p.His132Ter)
c.664_668del (p.His222Ter)
c.142_146del (p.His48Ter)
c.706_710del (p.His236Ter)
c.-126_-122del (n.-126_-122del)
12g.51914476G>ACA384900021ACVRL1c.393G>A (p.Trp131Ter)
c.663G>A (p.Trp221Ter)
c.141G>A (p.Trp47Ter)
c.705G>A (p.Trp235Ter)
c.-127G>A (n.-127G>A)
 ClinVar dbSNP
12g.51914476G>CCA384900022ACVRL1c.393G>C (p.Trp131Cys)
c.663G>C (p.Trp221Cys)
c.141G>C (p.Trp47Cys)
c.705G>C (p.Trp235Cys)
c.-127G>C (n.-127G>C)
12g.51914476G>TCA384900023ACVRL1c.393G>T (p.Trp131Cys)
c.663G>T (p.Trp221Cys)
c.141G>T (p.Trp47Cys)
c.705G>T (p.Trp235Cys)
c.-127G>T (n.-127G>T)
12g.51914476_51914477delCA2695216733ACVRL1c.393_394del (p.Trp131Ter)
c.663_664del (p.Trp221Ter)
c.141_142del (p.Trp47Ter)
c.705_706del (p.Trp235Ter)
c.-127_-126del (n.-127_-126del)
12g.51914477C>ACA384900024ACVRL1c.394C>A (p.His132Asn)
c.664C>A (p.His222Asn)
c.142C>A (p.His48Asn)
c.706C>A (p.His236Asn)
c.-126C>A (n.-126C>A)
12g.51914477C=CA2036269004ACVRL1c.394C= (p.His132=)
c.664C= (p.His222=)
c.142C= (p.His48=)
c.706C= (p.His236=)
c.-126C= (n.-126C=)
12g.51914477C>GCA384900025ACVRL1c.394C>G (p.His132Asp)
c.664C>G (p.His222Asp)
c.142C>G (p.His48Asp)
c.706C>G (p.His236Asp)
c.-126C>G (n.-126C>G)
12g.51914477C>TCA6572967ACVRL1c.394C>T (p.His132Tyr)
c.664C>T (p.His222Tyr)
c.142C>T (p.His48Tyr)
c.706C>T (p.His236Tyr)
c.-126C>T (n.-126C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914478A>CCA384900026ACVRL1c.395A>C (p.His132Pro)
c.665A>C (p.His222Pro)
c.143A>C (p.His48Pro)
c.707A>C (p.His236Pro)
c.-125A>C (n.-125A>C)
12g.51914478A>GCA384900027ACVRL1c.395A>G (p.His132Arg)
c.665A>G (p.His222Arg)
c.143A>G (p.His48Arg)
c.707A>G (p.His236Arg)
c.-125A>G (n.-125A>G)
12g.51914478A>TCA384900028ACVRL1c.395A>T (p.His132Leu)
c.665A>T (p.His222Leu)
c.143A>T (p.His48Leu)
c.707A>T (p.His236Leu)
c.-125A>T (n.-125A>T)
12g.51914479C>ACA384900029ACVRL1c.396C>A (p.His132Gln)
c.666C>A (p.His222Gln)
c.144C>A (p.His48Gln)
c.708C>A (p.His236Gln)
c.-124C>A (n.-124C>A)
12g.51914479C=CA2036269009ACVRL1c.396C= (p.His132=)
c.666C= (p.His222=)
c.144C= (p.His48=)
c.708C= (p.His236=)
c.-124C= (n.-124C=)
12g.51914479C>GCA6572968ACVRL1c.396C>G (p.His132Gln)
c.666C>G (p.His222Gln)
c.144C>G (p.His48Gln)
c.708C>G (p.His236Gln)
c.-124C>G (n.-124C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914479C>TCA6572969ACVRL1c.396C>T (p.His132=)
c.666C>T (p.His222=)
c.144C>T (p.His48=)
c.708C>T (p.His236=)
c.-124C>T (n.-124C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914480G>ACA384900030ACVRL1c.397G>A (p.Gly133Ser)
c.667G>A (p.Gly223Ser)
c.145G>A (p.Gly49Ser)
c.709G>A (p.Gly237Ser)
c.-123G>A (n.-123G>A)
 ClinVar dbSNP gnomAD v4 COSMIC COSMIC
12g.51914480G>CCA384900031ACVRL1c.397G>C (p.Gly133Arg)
c.667G>C (p.Gly223Arg)
c.145G>C (p.Gly49Arg)
c.709G>C (p.Gly237Arg)
c.-123G>C (n.-123G>C)
 ClinVar
12g.51914480G=CA2036269014ACVRL1c.397G= (p.Gly133=)
c.667G= (p.Gly223=)
c.145G= (p.Gly49=)
c.709G= (p.Gly237=)
c.-123G= (n.-123G=)
12g.51914480G>TCA384900032ACVRL1c.397G>T (p.Gly133Cys)
c.667G>T (p.Gly223Cys)
c.145G>T (p.Gly49Cys)
c.709G>T (p.Gly237Cys)
c.-123G>T (n.-123G>T)
12g.51914481G>ACA384900033ACVRL1c.398G>A (p.Gly133Asp)
c.668G>A (p.Gly223Asp)
c.146G>A (p.Gly49Asp)
c.710G>A (p.Gly237Asp)
c.-122G>A (n.-122G>A)
12g.51914481G>CCA384900034ACVRL1c.398G>C (p.Gly133Ala)
c.668G>C (p.Gly223Ala)
c.146G>C (p.Gly49Ala)
c.710G>C (p.Gly237Ala)
c.-122G>C (n.-122G>C)
12g.51914481G>TCA384900035ACVRL1c.398G>T (p.Gly133Val)
c.668G>T (p.Gly223Val)
c.146G>T (p.Gly49Val)
c.710G>T (p.Gly237Val)
c.-122G>T (n.-122G>T)
12g.51914482T>ACA479807767ACVRL1c.399T>A (p.Gly133=)
c.669T>A (p.Gly223=)
c.147T>A (p.Gly49=)
c.711T>A (p.Gly237=)
c.-121T>A (n.-121T>A)
12g.51914482T>CCA479807769ACVRL1c.399T>C (p.Gly133=)
c.669T>C (p.Gly223=)
c.147T>C (p.Gly49=)
c.711T>C (p.Gly237=)
c.-121T>C (n.-121T>C)
12g.51914482T>GCA479807774ACVRL1c.399T>G (p.Gly133=)
c.669T>G (p.Gly223=)
c.147T>G (p.Gly49=)
c.711T>G (p.Gly237=)
c.-121T>G (n.-121T>G)
 dbSNP gnomAD v2
12g.51914482T=CA2036269018ACVRL1c.399T= (p.Gly133=)
c.669T= (p.Gly223=)
c.147T= (p.Gly49=)
c.711T= (p.Gly237=)
c.-121T= (n.-121T=)
12g.51914482_51914484delinsTGACA2036269019ACVRL1c.399_401delinsTGA (p.Gly133=)
c.669_671delinsTGA (p.Gly223=)
c.147_149delinsTGA (p.Gly49=)
c.711_713delinsTGA (p.Gly237=)
c.-121_-119delinsTGA (n.-121_-119delinsTGA)
12g.51914483G>ACA384900038ACVRL1c.400G>A (p.Glu134Lys)
c.670G>A (p.Glu224Lys)
c.148G>A (p.Glu50Lys)
c.712G>A (p.Glu238Lys)
c.-120G>A (n.-120G>A)
 ClinVar
12g.51914483G>CCA384900036ACVRL1c.400G>C (p.Glu134Gln)
c.670G>C (p.Glu224Gln)
c.148G>C (p.Glu50Gln)
c.712G>C (p.Glu238Gln)
c.-120G>C (n.-120G>C)
12g.51914483G>TCA384900037ACVRL1c.400G>T (p.Glu134Ter)
c.670G>T (p.Glu224Ter)
c.148G>T (p.Glu50Ter)
c.712G>T (p.Glu238Ter)
c.-120G>T (n.-120G>T)
 ClinVar
12g.51914486_51914487delCA2036269021ACVRL1c.403_404del (p.Ser135CysfsTer11)
c.673_674del (p.Ser225CysfsTer11)
c.151_152del (p.Ser51CysfsTer11)
c.715_716del (p.Ser239CysfsTer11)
c.-117_-116del (n.-117_-116del)
 ClinVar dbSNP
12g.51914484A>CCA384900039ACVRL1c.401A>C (p.Glu134Ala)
c.671A>C (p.Glu224Ala)
c.149A>C (p.Glu50Ala)
c.713A>C (p.Glu238Ala)
c.-119A>C (n.-119A>C)
12g.51914484A>GCA384900040ACVRL1c.401A>G (p.Glu134Gly)
c.671A>G (p.Glu224Gly)
c.149A>G (p.Glu50Gly)
c.713A>G (p.Glu238Gly)
c.-119A>G (n.-119A>G)
12g.51914484A>TCA384900041ACVRL1c.401A>T (p.Glu134Val)
c.671A>T (p.Glu224Val)
c.149A>T (p.Glu50Val)
c.713A>T (p.Glu238Val)
c.-119A>T (n.-119A>T)
12g.51914485G>ACA479807788ACVRL1c.402G>A (p.Glu134=)
c.672G>A (p.Glu224=)
c.150G>A (p.Glu50=)
c.714G>A (p.Glu238=)
c.-118G>A (n.-118G>A)
12g.51914485G>CCA384900042ACVRL1c.402G>C (p.Glu134Asp)
c.672G>C (p.Glu224Asp)
c.150G>C (p.Glu50Asp)
c.714G>C (p.Glu238Asp)
c.-118G>C (n.-118G>C)
 dbSNP gnomAD v4
12g.51914485G=CA2036269023ACVRL1c.402G= (p.Glu134=)
c.672G= (p.Glu224=)
c.150G= (p.Glu50=)
c.714G= (p.Glu238=)
c.-118G= (n.-118G=)
12g.51914485G>TCA384900043ACVRL1c.402G>T (p.Glu134Asp)
c.672G>T (p.Glu224Asp)
c.150G>T (p.Glu50Asp)
c.714G>T (p.Glu238Asp)
c.-118G>T (n.-118G>T)
12g.51914486delCA2580086470ACVRL1c.403del (p.Ser135ValfsTer?)
c.673del (p.Ser225ValfsTer?)
c.151del (p.Ser51ValfsTer?)
c.715del (p.Ser239ValfsTer?)
c.-117del (n.-117del)
 ClinVar
12g.51914486A>CCA384900046ACVRL1c.403A>C (p.Ser135Arg)
c.673A>C (p.Ser225Arg)
c.151A>C (p.Ser51Arg)
c.715A>C (p.Ser239Arg)
c.-117A>C (n.-117A>C)
12g.51914486A>GCA384900045ACVRL1c.403A>G (p.Ser135Gly)
c.673A>G (p.Ser225Gly)
c.151A>G (p.Ser51Gly)
c.715A>G (p.Ser239Gly)
c.-117A>G (n.-117A>G)
12g.51914486A>TCA384900044ACVRL1c.403A>T (p.Ser135Cys)
c.673A>T (p.Ser225Cys)
c.151A>T (p.Ser51Cys)
c.715A>T (p.Ser239Cys)
c.-117A>T (n.-117A>T)
12g.51914487G>ACA6572970ACVRL1c.404G>A (p.Ser135Asn)
c.674G>A (p.Ser225Asn)
c.152G>A (p.Ser51Asn)
c.716G>A (p.Ser239Asn)
c.-116G>A (n.-116G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51914487G>CCA384900048ACVRL1c.404G>C (p.Ser135Thr)
c.674G>C (p.Ser225Thr)
c.152G>C (p.Ser51Thr)
c.716G>C (p.Ser239Thr)
c.-116G>C (n.-116G>C)
12g.51914487G=CA2036269025ACVRL1c.404G= (p.Ser135=)
c.674G= (p.Ser225=)
c.152G= (p.Ser51=)
c.716G= (p.Ser239=)
c.-116G= (n.-116G=)
12g.51914487G>TCA384900047ACVRL1c.404G>T (p.Ser135Ile)
c.674G>T (p.Ser225Ile)
c.152G>T (p.Ser51Ile)
c.716G>T (p.Ser239Ile)
c.-116G>T (n.-116G>T)
 dbSNP gnomAD v4
12g.51914488T>ACA384900049ACVRL1c.405T>A (p.Ser135Arg)
c.675T>A (p.Ser225Arg)
c.153T>A (p.Ser51Arg)
c.717T>A (p.Ser239Arg)
c.-115T>A (n.-115T>A)
12g.51914488T>CCA479807811ACVRL1c.405T>C (p.Ser135=)
c.675T>C (p.Ser225=)
c.153T>C (p.Ser51=)
c.717T>C (p.Ser239=)
c.-115T>C (n.-115T>C)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12g.51914488T>GCA384900050ACVRL1c.405T>G (p.Ser135Arg)
c.675T>G (p.Ser225Arg)
c.153T>G (p.Ser51Arg)
c.717T>G (p.Ser239Arg)
c.-115T>G (n.-115T>G)
12g.51914488T=CA2036269027ACVRL1c.405T= (p.Ser135=)
c.675T= (p.Ser225=)
c.153T= (p.Ser51=)
c.717T= (p.Ser239=)
c.-115T= (n.-115T=)
12g.51914489G>ACA384900051ACVRL1c.406G>A (p.Val136Met)
c.676G>A (p.Val226Met)
c.154G>A (p.Val52Met)
c.718G>A (p.Val240Met)
c.-114G>A (n.-114G>A)
12g.51914489G>CCA384900052ACVRL1c.406G>C (p.Val136Leu)
c.676G>C (p.Val226Leu)
c.154G>C (p.Val52Leu)
c.718G>C (p.Val240Leu)
c.-114G>C (n.-114G>C)
12g.51914489G>TCA384900053ACVRL1c.406G>T (p.Val136Leu)
c.676G>T (p.Val226Leu)
c.154G>T (p.Val52Leu)
c.718G>T (p.Val240Leu)
c.-114G>T (n.-114G>T)
12g.51914490T>ACA384900054ACVRL1c.407T>A (p.Val136Glu)
c.677T>A (p.Val226Glu)
c.155T>A (p.Val52Glu)
c.719T>A (p.Val240Glu)
c.-113T>A (n.-113T>A)
 ClinVar dbSNP
12g.51914490T>CCA384900055ACVRL1c.407T>C (p.Val136Ala)
c.677T>C (p.Val226Ala)
c.155T>C (p.Val52Ala)
c.719T>C (p.Val240Ala)
c.-113T>C (n.-113T>C)
12g.51914490T>GCA384900056ACVRL1c.407T>G (p.Val136Gly)
c.677T>G (p.Val226Gly)
c.155T>G (p.Val52Gly)
c.719T>G (p.Val240Gly)
c.-113T>G (n.-113T>G)
12g.51914490T=CA2036269030ACVRL1c.407T= (p.Val136=)
c.677T= (p.Val226=)
c.155T= (p.Val52=)
c.719T= (p.Val240=)
c.-113T= (n.-113T=)
12g.51914491G>ACA479807821ACVRL1c.408G>A (p.Val136=)
c.678G>A (p.Val226=)
c.156G>A (p.Val52=)
c.720G>A (p.Val240=)
c.-112G>A (n.-112G>A)
 gnomAD v4
12g.51914491G>CCA479807822ACVRL1c.408G>C (p.Val136=)
c.678G>C (p.Val226=)
c.156G>C (p.Val52=)
c.720G>C (p.Val240=)
c.-112G>C (n.-112G>C)
12g.51914491G>TCA479807824ACVRL1c.408G>T (p.Val136=)
c.678G>T (p.Val226=)
c.156G>T (p.Val52=)
c.720G>T (p.Val240=)
c.-112G>T (n.-112G>T)
12g.51914492G>ACA384900057ACVRL1c.409G>A (p.Ala137Thr)
c.679G>A (p.Ala227Thr)
c.157G>A (p.Ala53Thr)
c.721G>A (p.Ala241Thr)
c.-111G>A (n.-111G>A)
 gnomAD v4
12g.51914492G>CCA384900058ACVRL1c.409G>C (p.Ala137Pro)
c.679G>C (p.Ala227Pro)
c.157G>C (p.Ala53Pro)
c.721G>C (p.Ala241Pro)
c.-111G>C (n.-111G>C)
12g.51914492G>TCA384900059ACVRL1c.409G>T (p.Ala137Ser)
c.679G>T (p.Ala227Ser)
c.157G>T (p.Ala53Ser)
c.721G>T (p.Ala241Ser)
c.-111G>T (n.-111G>T)
12g.51914493C>ACA384900062ACVRL1c.410C>A (p.Ala137Asp)
c.680C>A (p.Ala227Asp)
c.158C>A (p.Ala53Asp)
c.722C>A (p.Ala241Asp)
c.-110C>A (n.-110C>A)
12g.51914493C>GCA384900061ACVRL1c.410C>G (p.Ala137Gly)
c.680C>G (p.Ala227Gly)
c.158C>G (p.Ala53Gly)
c.722C>G (p.Ala241Gly)
c.-110C>G (n.-110C>G)
12g.51914493C>TCA384900060ACVRL1c.410C>T (p.Ala137Val)
c.680C>T (p.Ala227Val)
c.158C>T (p.Ala53Val)
c.722C>T (p.Ala241Val)
c.-110C>T (n.-110C>T)
 gnomAD v4 COSMIC COSMIC
12g.51914494C>ACA479807835ACVRL1c.411C>A (p.Ala137=)
c.681C>A (p.Ala227=)
c.159C>A (p.Ala53=)
c.723C>A (p.Ala241=)
c.-109C>A (n.-109C>A)
 dbSNP COSMIC COSMIC
12g.51914494C=CA2036269036ACVRL1c.411C= (p.Ala137=)
c.681C= (p.Ala227=)
c.159C= (p.Ala53=)
c.723C= (p.Ala241=)
c.-109C= (n.-109C=)
12g.51914494C>GCA479807838ACVRL1c.411C>G (p.Ala137=)
c.681C>G (p.Ala227=)
c.159C>G (p.Ala53=)
c.723C>G (p.Ala241=)
c.-109C>G (n.-109C>G)
12g.51914494C>TCA6572971ACVRL1c.411C>T (p.Ala137=)
c.681C>T (p.Ala227=)
c.159C>T (p.Ala53=)
c.723C>T (p.Ala241=)
c.-109C>T (n.-109C>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC
12g.51914495delCA2695216735ACVRL1c.412del (p.Val138SerfsTer30)
c.682del (p.Val228SerfsTer30)
c.160del (p.Val54SerfsTer30)
c.412del (p.Val138SerfsTer?)
c.724del (p.Val242SerfsTer30)
c.-108del (n.-108del)
12g.51914495G>ACA322926ACVRL1c.412G>A (p.Val138Ile)
c.682G>A (p.Val228Ile)
c.160G>A (p.Val54Ile)
c.724G>A (p.Val242Ile)
c.-108G>A (n.-108G>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51914495G>CCA384900063ACVRL1c.412G>C (p.Val138Leu)
c.682G>C (p.Val228Leu)
c.160G>C (p.Val54Leu)
c.724G>C (p.Val242Leu)
c.-108G>C (n.-108G>C)
12g.51914495G=CA2036269044ACVRL1c.412G= (p.Val138=)
c.682G= (p.Val228=)
c.160G= (p.Val54=)
c.724G= (p.Val242=)
c.-108G= (n.-108G=)
12g.51914495G>TCA384900064ACVRL1c.412G>T (p.Val138Phe)
c.682G>T (p.Val228Phe)
c.160G>T (p.Val54Phe)
c.724G>T (p.Val242Phe)
c.-108G>T (n.-108G>T)
12g.51914496T>ACA384900065ACVRL1c.413T>A (p.Val138Asp)
c.683T>A (p.Val228Asp)
c.161T>A (p.Val54Asp)
c.725T>A (p.Val242Asp)
c.-107T>A (n.-107T>A)
12g.51914496T>CCA384900066ACVRL1c.413T>C (p.Val138Ala)
c.683T>C (p.Val228Ala)
c.161T>C (p.Val54Ala)
c.725T>C (p.Val242Ala)
c.-107T>C (n.-107T>C)
12g.51914496T>GCA384900067ACVRL1c.413T>G (p.Val138Gly)
c.683T>G (p.Val228Gly)
c.161T>G (p.Val54Gly)
c.725T>G (p.Val242Gly)
c.-107T>G (n.-107T>G)
12g.51914497C>ACA479807849ACVRL1c.414C>A (p.Val138=)
c.684C>A (p.Val228=)
c.162C>A (p.Val54=)
c.726C>A (p.Val242=)
c.-106C>A (n.-106C>A)
12g.51914497C>GCA479807852ACVRL1c.414C>G (p.Val138=)
c.684C>G (p.Val228=)
c.162C>G (p.Val54=)
c.726C>G (p.Val242=)
c.-106C>G (n.-106C>G)
 gnomAD v4
12g.51914497C>TCA479807854ACVRL1c.414C>T (p.Val138=)
c.684C>T (p.Val228=)
c.162C>T (p.Val54=)
c.726C>T (p.Val242=)
c.-106C>T (n.-106C>T)
12g.51914498A=CA2036269053ACVRL1c.415A= (p.Lys139=)
c.685A= (p.Lys229=)
c.163A= (p.Lys55=)
c.727A= (p.Lys243=)
c.-105A= (n.-105A=)
12g.51914498A>CCA384900068ACVRL1c.415A>C (p.Lys139Gln)
c.685A>C (p.Lys229Gln)
c.163A>C (p.Lys55Gln)
c.727A>C (p.Lys243Gln)
c.-105A>C (n.-105A>C)
12g.51914498A>GCA384900069ACVRL1c.415A>G (p.Lys139Glu)
c.685A>G (p.Lys229Glu)
c.163A>G (p.Lys55Glu)
c.727A>G (p.Lys243Glu)
c.-105A>G (n.-105A>G)
 ClinVar dbSNP
12g.51914498A>TCA384900070ACVRL1c.415A>T (p.Lys139Ter)
c.685A>T (p.Lys229Ter)
c.163A>T (p.Lys55Ter)
c.727A>T (p.Lys243Ter)
c.-105A>T (n.-105A>T)
12g.51914499A=CA2036269061ACVRL1c.416A= (p.Lys139=)
c.686A= (p.Lys229=)
c.164A= (p.Lys55=)
c.728A= (p.Lys243=)
c.-104A= (n.-104A=)
12g.51914499A>CCA384900071ACVRL1c.416A>C (p.Lys139Thr)
c.686A>C (p.Lys229Thr)
c.164A>C (p.Lys55Thr)
c.728A>C (p.Lys243Thr)
c.-104A>C (n.-104A>C)
12g.51914499A>GCA384900072ACVRL1c.416A>G (p.Lys139Arg)
c.686A>G (p.Lys229Arg)
c.164A>G (p.Lys55Arg)
c.728A>G (p.Lys243Arg)
c.-104A>G (n.-104A>G)
 ClinVar
12g.51914499A>TCA384900073ACVRL1c.416A>T (p.Lys139Met)
c.686A>T (p.Lys229Met)
c.164A>T (p.Lys55Met)
c.728A>T (p.Lys243Met)
c.-104A>T (n.-104A>T)
 ClinVar dbSNP
12g.51914500G>ACA479807858ACVRL1c.417G>A (p.Lys139=)
c.687G>A (p.Lys229=)
c.165G>A (p.Lys55=)
c.729G>A (p.Lys243=)
c.-103G>A (n.-103G>A)
 gnomAD v4
12g.51914500G>CCA384900074ACVRL1c.417G>C (p.Lys139Asn)
c.687G>C (p.Lys229Asn)
c.165G>C (p.Lys55Asn)
c.729G>C (p.Lys243Asn)
c.-103G>C (n.-103G>C)
 ClinVar dbSNP
12g.51914500G=CA2036269065ACVRL1c.417G= (p.Lys139=)
c.687G= (p.Lys229=)
c.165G= (p.Lys55=)
c.729G= (p.Lys243=)
c.-103G= (n.-103G=)
12g.51914500G>TCA384900075ACVRL1c.417G>T (p.Lys139Asn)
c.687G>T (p.Lys229Asn)
c.165G>T (p.Lys55Asn)
c.729G>T (p.Lys243Asn)
c.-103G>T (n.-103G>T)
12g.51914501A>CCA384900076ACVRL1c.418A>C (p.Ile140Leu)
c.688A>C (p.Ile230Leu)
c.166A>C (p.Ile56Leu)
c.730A>C (p.Ile244Leu)
c.-102A>C (n.-102A>C)
12g.51914501A>GCA384900077ACVRL1c.418A>G (p.Ile140Val)
c.688A>G (p.Ile230Val)
c.166A>G (p.Ile56Val)
c.730A>G (p.Ile244Val)
c.-102A>G (n.-102A>G)
12g.51914501A>TCA384900078ACVRL1c.418A>T (p.Ile140Phe)
c.688A>T (p.Ile230Phe)
c.166A>T (p.Ile56Phe)
c.730A>T (p.Ile244Phe)
c.-102A>T (n.-102A>T)
 ClinVar
12g.51914502T>ACA384900079ACVRL1c.419T>A (p.Ile140Asn)
c.689T>A (p.Ile230Asn)
c.167T>A (p.Ile56Asn)
c.731T>A (p.Ile244Asn)
c.-101T>A (n.-101T>A)
12g.51914502T>CCA384900080ACVRL1c.419T>C (p.Ile140Thr)
c.689T>C (p.Ile230Thr)
c.167T>C (p.Ile56Thr)
c.731T>C (p.Ile244Thr)
c.-101T>C (n.-101T>C)
12g.51914502T>GCA384900081ACVRL1c.419T>G (p.Ile140Ser)
c.689T>G (p.Ile230Ser)
c.167T>G (p.Ile56Ser)
c.731T>G (p.Ile244Ser)
c.-101T>G (n.-101T>G)
12g.51914505_51914507delCA2580615205ACVRL1c.422_424del (p.Phe141del)
c.692_694del (p.Phe231del)
c.170_172del (p.Phe57del)
c.734_736del (p.Phe245del)
c.-98_-96del (n.-98_-96del)
 ClinVar
12g.51914503C>ACA479807872ACVRL1c.420C>A (p.Ile140=)
c.690C>A (p.Ile230=)
c.168C>A (p.Ile56=)
c.732C>A (p.Ile244=)
c.-100C>A (n.-100C>A)
12g.51914503C>GCA384900082ACVRL1c.420C>G (p.Ile140Met)
c.690C>G (p.Ile230Met)
c.168C>G (p.Ile56Met)
c.732C>G (p.Ile244Met)
c.-100C>G (n.-100C>G)
12g.51914503C>TCA479807879ACVRL1c.420C>T (p.Ile140=)
c.690C>T (p.Ile230=)
c.168C>T (p.Ile56=)
c.732C>T (p.Ile244=)
c.-100C>T (n.-100C>T)
 gnomAD v4
12g.51914504T>ACA384900083ACVRL1c.421T>A (p.Phe141Ile)
c.691T>A (p.Phe231Ile)
c.169T>A (p.Phe57Ile)
c.733T>A (p.Phe245Ile)
c.-99T>A (n.-99T>A)
12g.51914504T>CCA384900084ACVRL1c.421T>C (p.Phe141Leu)
c.691T>C (p.Phe231Leu)
c.169T>C (p.Phe57Leu)
c.733T>C (p.Phe245Leu)
c.-99T>C (n.-99T>C)
12g.51914504T>GCA384900085ACVRL1c.421T>G (p.Phe141Val)
c.691T>G (p.Phe231Val)
c.169T>G (p.Phe57Val)
c.733T>G (p.Phe245Val)
c.-99T>G (n.-99T>G)
12g.51914505T>ACA384900086ACVRL1c.422T>A (p.Phe141Tyr)
c.692T>A (p.Phe231Tyr)
c.170T>A (p.Phe57Tyr)
c.734T>A (p.Phe245Tyr)
c.-98T>A (n.-98T>A)
12g.51914505T>CCA384900087ACVRL1c.422T>C (p.Phe141Ser)
c.692T>C (p.Phe231Ser)
c.170T>C (p.Phe57Ser)
c.734T>C (p.Phe245Ser)
c.-98T>C (n.-98T>C)
12g.51914505T>GCA384900088ACVRL1c.422T>G (p.Phe141Cys)
c.692T>G (p.Phe231Cys)
c.170T>G (p.Phe57Cys)
c.734T>G (p.Phe245Cys)
c.-98T>G (n.-98T>G)
12g.51914505_51914508delinsTCTCCA2036269070ACVRL1c.422_425delinsTCTC (p.Phe141=)
c.692_695delinsTCTC (p.Phe231=)
c.170_173delinsTCTC (p.Phe57=)
c.734_737delinsTCTC (p.Phe245=)
c.-98_-95delinsTCTC (n.-98_-95delinsTCTC)

Number of alleles fetched