Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51920820_51920887delCA2695216730ACVRL1c.1169_1236del (p.Leu390ProfsTer?)
c.1439_1506del (p.Leu480ProfsTer?)
c.917_984del (p.Leu306ProfsTer?)
c.1481_1548del (p.Leu494ProfsTer?)
c.650_717del (p.Leu217ProfsTer?)
12g.51920836_51920839delinsCAAGCA2036241918ACVRL1c.1185_1188delinsCAAG (p.Ile395=)
c.1455_1458delinsCAAG (p.Ile485=)
c.933_936delinsCAAG (p.Ile311=)
c.1497_1500delinsCAAG (p.Ile499=)
c.666_669delinsCAAG (p.Ile222=)
12g.51920837A=CA2036241922ACVRL1c.1186A= (p.Lys396=)
c.1456A= (p.Lys486=)
c.934A= (p.Lys312=)
c.1498A= (p.Lys500=)
c.667A= (p.Lys223=)
12g.51920837A>CCA384905848ACVRL1c.1186A>C (p.Lys396Gln)
c.1456A>C (p.Lys486Gln)
c.934A>C (p.Lys312Gln)
c.1498A>C (p.Lys500Gln)
c.667A>C (p.Lys223Gln)
12g.51920837A>GCA236367781ACVRL1c.1186A>G (p.Lys396Glu)
c.1456A>G (p.Lys486Glu)
c.934A>G (p.Lys312Glu)
c.1498A>G (p.Lys500Glu)
c.667A>G (p.Lys223Glu)
ClinVar dbSNP
12g.51920837A>TCA384905872ACVRL1c.1186A>T (p.Lys396Ter)
c.1456A>T (p.Lys486Ter)
c.934A>T (p.Lys312Ter)
c.1498A>T (p.Lys500Ter)
c.667A>T (p.Lys223Ter)
12g.51920841_51920843delCA2036241920ACVRL1c.1190_1192del (p.Lys397del)
c.1460_1462del (p.Lys487del)
c.938_940del (p.Lys313del)
c.1502_1504del (p.Lys501del)
c.671_673del (p.Lys224del)
dbSNP gnomAD v4
12g.51920838A>CCA384905876ACVRL1c.1187A>C (p.Lys396Thr)
c.1457A>C (p.Lys486Thr)
c.935A>C (p.Lys312Thr)
c.1499A>C (p.Lys500Thr)
c.668A>C (p.Lys223Thr)
12g.51920838A>GCA384905883ACVRL1c.1187A>G (p.Lys396Arg)
c.1457A>G (p.Lys486Arg)
c.935A>G (p.Lys312Arg)
c.1499A>G (p.Lys500Arg)
c.668A>G (p.Lys223Arg)
12g.51920838A>TCA384905885ACVRL1c.1187A>T (p.Lys396Met)
c.1457A>T (p.Lys486Met)
c.935A>T (p.Lys312Met)
c.1499A>T (p.Lys500Met)
c.668A>T (p.Lys223Met)
12g.51920839G>ACA479816953ACVRL1c.1188G>A (p.Lys396=)
c.1458G>A (p.Lys486=)
c.936G>A (p.Lys312=)
c.1500G>A (p.Lys500=)
c.669G>A (p.Lys223=)
12g.51920839G>CCA384905888ACVRL1c.1188G>C (p.Lys396Asn)
c.1458G>C (p.Lys486Asn)
c.936G>C (p.Lys312Asn)
c.1500G>C (p.Lys500Asn)
c.669G>C (p.Lys223Asn)
12g.51920839G>TCA384905890ACVRL1c.1188G>T (p.Lys396Asn)
c.1458G>T (p.Lys486Asn)
c.936G>T (p.Lys312Asn)
c.1500G>T (p.Lys500Asn)
c.669G>T (p.Lys223Asn)
12g.51920840A=CA2036241927ACVRL1c.1189A= (p.Lys397=)
c.1459A= (p.Lys487=)
c.937A= (p.Lys313=)
c.1501A= (p.Lys501=)
c.670A= (p.Lys224=)
12g.51920840A>CCA384905893ACVRL1c.1189A>C (p.Lys397Gln)
c.1459A>C (p.Lys487Gln)
c.937A>C (p.Lys313Gln)
c.1501A>C (p.Lys501Gln)
c.670A>C (p.Lys224Gln)
ClinVar dbSNP
12g.51920840A>GCA384905894ACVRL1c.1189A>G (p.Lys397Glu)
c.1459A>G (p.Lys487Glu)
c.937A>G (p.Lys313Glu)
c.1501A>G (p.Lys501Glu)
c.670A>G (p.Lys224Glu)
ClinVar dbSNP
12g.51920840A>TCA384905895ACVRL1c.1189A>T (p.Lys397Ter)
c.1459A>T (p.Lys487Ter)
c.937A>T (p.Lys313Ter)
c.1501A>T (p.Lys501Ter)
c.670A>T (p.Lys224Ter)
12g.51920841A=CA2036241937ACVRL1c.1190A= (p.Lys397=)
c.1460A= (p.Lys487=)
c.938A= (p.Lys313=)
c.1502A= (p.Lys501=)
c.671A= (p.Lys224=)
12g.51920841A>CCA384905912ACVRL1c.1190A>C (p.Lys397Thr)
c.1460A>C (p.Lys487Thr)
c.938A>C (p.Lys313Thr)
c.1502A>C (p.Lys501Thr)
c.671A>C (p.Lys224Thr)
ClinVar dbSNP
12g.51920841A>GCA384905897ACVRL1c.1190A>G (p.Lys397Arg)
c.1460A>G (p.Lys487Arg)
c.938A>G (p.Lys313Arg)
c.1502A>G (p.Lys501Arg)
c.671A>G (p.Lys224Arg)
12g.51920841A>TCA384905896ACVRL1c.1190A>T (p.Lys397Met)
c.1460A>T (p.Lys487Met)
c.938A>T (p.Lys313Met)
c.1502A>T (p.Lys501Met)
c.671A>T (p.Lys224Met)
12g.51920842G>ACA479816970ACVRL1c.1191G>A (p.Lys397=)
c.1461G>A (p.Lys487=)
c.939G>A (p.Lys313=)
c.1503G>A (p.Lys501=)
c.672G>A (p.Lys224=)
12g.51920842G>CCA384905915ACVRL1c.1191G>C (p.Lys397Asn)
c.1461G>C (p.Lys487Asn)
c.939G>C (p.Lys313Asn)
c.1503G>C (p.Lys501Asn)
c.672G>C (p.Lys224Asn)
12g.51920842G>TCA384905917ACVRL1c.1191G>T (p.Lys397Asn)
c.1461G>T (p.Lys487Asn)
c.939G>T (p.Lys313Asn)
c.1503G>T (p.Lys501Asn)
c.672G>T (p.Lys224Asn)
12g.51920843A>CCA384905926ACVRL1c.1192A>C (p.Thr398Pro)
c.1462A>C (p.Thr488Pro)
c.940A>C (p.Thr314Pro)
c.1504A>C (p.Thr502Pro)
c.673A>C (p.Thr225Pro)
12g.51920843A>GCA384905928ACVRL1c.1192A>G (p.Thr398Ala)
c.1462A>G (p.Thr488Ala)
c.940A>G (p.Thr314Ala)
c.1504A>G (p.Thr502Ala)
c.673A>G (p.Thr225Ala)
12g.51920843A>TCA384905947ACVRL1c.1192A>T (p.Thr398Ser)
c.1462A>T (p.Thr488Ser)
c.940A>T (p.Thr314Ser)
c.1504A>T (p.Thr502Ser)
c.673A>T (p.Thr225Ser)
12g.51920844C>ACA384905961ACVRL1c.1193C>A (p.Thr398Lys)
c.1463C>A (p.Thr488Lys)
c.941C>A (p.Thr314Lys)
c.1505C>A (p.Thr502Lys)
c.674C>A (p.Thr225Lys)
12g.51920844C>GCA384905966ACVRL1c.1193C>G (p.Thr398Arg)
c.1463C>G (p.Thr488Arg)
c.941C>G (p.Thr314Arg)
c.1505C>G (p.Thr502Arg)
c.674C>G (p.Thr225Arg)
12g.51920844C>TCA384905975ACVRL1c.1193C>T (p.Thr398Ile)
c.1463C>T (p.Thr488Ile)
c.941C>T (p.Thr314Ile)
c.1505C>T (p.Thr502Ile)
c.674C>T (p.Thr225Ile)
12g.51920845A=CA2036241942ACVRL1c.1194A= (p.Thr398=)
c.1464A= (p.Thr488=)
c.942A= (p.Thr314=)
c.1506A= (p.Thr502=)
c.675A= (p.Thr225=)
12g.51920845A>CCA479817004ACVRL1c.1194A>C (p.Thr398=)
c.1464A>C (p.Thr488=)
c.942A>C (p.Thr314=)
c.1506A>C (p.Thr502=)
c.675A>C (p.Thr225=)
dbSNP gnomAD v2 gnomAD v4
12g.51920845A>GCA479816997ACVRL1c.1194A>G (p.Thr398=)
c.1464A>G (p.Thr488=)
c.942A>G (p.Thr314=)
c.1506A>G (p.Thr502=)
c.675A>G (p.Thr225=)
ClinVar dbSNP gnomAD v4
12g.51920845A>TCA479817000ACVRL1c.1194A>T (p.Thr398=)
c.1464A>T (p.Thr488=)
c.942A>T (p.Thr314=)
c.1506A>T (p.Thr502=)
c.675A>T (p.Thr225=)
12g.51920846C>ACA384906000ACVRL1c.1195C>A (p.Leu399Ile)
c.1465C>A (p.Leu489Ile)
c.943C>A (p.Leu315Ile)
c.1507C>A (p.Leu503Ile)
c.676C>A (p.Leu226Ile)
ClinVar dbSNP
12g.51920846C=CA2036241945ACVRL1c.1195C= (p.Leu399=)
c.1465C= (p.Leu489=)
c.943C= (p.Leu315=)
c.1507C= (p.Leu503=)
c.676C= (p.Leu226=)
12g.51920846C>GCA384905980ACVRL1c.1195C>G (p.Leu399Val)
c.1465C>G (p.Leu489Val)
c.943C>G (p.Leu315Val)
c.1507C>G (p.Leu503Val)
c.676C>G (p.Leu226Val)
gnomAD v4
12g.51920846C>TCA479817013ACVRL1c.1195C>T (p.Leu399=)
c.1465C>T (p.Leu489=)
c.943C>T (p.Leu315=)
c.1507C>T (p.Leu503=)
c.676C>T (p.Leu226=)
12g.51920847T>ACA384906007ACVRL1c.1196T>A (p.Leu399Gln)
c.1466T>A (p.Leu489Gln)
c.944T>A (p.Leu315Gln)
c.1508T>A (p.Leu503Gln)
c.677T>A (p.Leu226Gln)
12g.51920847T>CCA16606658ACVRL1c.1196T>C (p.Leu399Pro)
c.1466T>C (p.Leu489Pro)
c.944T>C (p.Leu315Pro)
c.1508T>C (p.Leu503Pro)
c.677T>C (p.Leu226Pro)
ClinVar dbSNP
12g.51920847T>GCA384906009ACVRL1c.1196T>G (p.Leu399Arg)
c.1466T>G (p.Leu489Arg)
c.944T>G (p.Leu315Arg)
c.1508T>G (p.Leu503Arg)
c.677T>G (p.Leu226Arg)
12g.51920847T=CA2036241949ACVRL1c.1196T= (p.Leu399=)
c.1466T= (p.Leu489=)
c.944T= (p.Leu315=)
c.1508T= (p.Leu503=)
c.677T= (p.Leu226=)
12g.51920848A>CCA479817030ACVRL1c.1197A>C (p.Leu399=)
c.1467A>C (p.Leu489=)
c.945A>C (p.Leu315=)
c.1509A>C (p.Leu503=)
c.678A>C (p.Leu226=)
12g.51920848A>GCA479817038ACVRL1c.1197A>G (p.Leu399=)
c.1467A>G (p.Leu489=)
c.945A>G (p.Leu315=)
c.1509A>G (p.Leu503=)
c.678A>G (p.Leu226=)
gnomAD v4
12g.51920848A>TCA479817042ACVRL1c.1197A>T (p.Leu399=)
c.1467A>T (p.Leu489=)
c.945A>T (p.Leu315=)
c.1509A>T (p.Leu503=)
c.678A>T (p.Leu226=)
12g.51920849C>ACA384906010ACVRL1c.1198C>A (p.Gln400Lys)
c.1468C>A (p.Gln490Lys)
c.946C>A (p.Gln316Lys)
c.1510C>A (p.Gln504Lys)
c.679C>A (p.Gln227Lys)
12g.51920849C=CA2036241958ACVRL1c.1198C= (p.Gln400=)
c.1468C= (p.Gln490=)
c.946C= (p.Gln316=)
c.1510C= (p.Gln504=)
c.679C= (p.Gln227=)
12g.51920849C>GCA384906011ACVRL1c.1198C>G (p.Gln400Glu)
c.1468C>G (p.Gln490Glu)
c.946C>G (p.Gln316Glu)
c.1510C>G (p.Gln504Glu)
c.679C>G (p.Gln227Glu)
12g.51920849C>TCA384906013ACVRL1c.1198C>T (p.Gln400Ter)
c.1468C>T (p.Gln490Ter)
c.946C>T (p.Gln316Ter)
c.1510C>T (p.Gln504Ter)
c.679C>T (p.Gln227Ter)
ClinVar dbSNP
12g.51920850A>CCA384906021ACVRL1c.1199A>C (p.Gln400Pro)
c.1469A>C (p.Gln490Pro)
c.947A>C (p.Gln316Pro)
c.1511A>C (p.Gln504Pro)
c.680A>C (p.Gln227Pro)

Number of alleles fetched