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.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.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)
12g.51920850A>GCA384906018ACVRL1c.1199A>G (p.Gln400Arg)
c.1469A>G (p.Gln490Arg)
c.947A>G (p.Gln316Arg)
c.1511A>G (p.Gln504Arg)
c.680A>G (p.Gln227Arg)
12g.51920850A>TCA384906019ACVRL1c.1199A>T (p.Gln400Leu)
c.1469A>T (p.Gln490Leu)
c.947A>T (p.Gln316Leu)
c.1511A>T (p.Gln504Leu)
c.680A>T (p.Gln227Leu)
gnomAD v4
12g.51920855delCA645594556ACVRL1c.1204del (p.Ile402LeufsTer10)
c.1474del (p.Ile492LeufsTer10)
c.952del (p.Ile318LeufsTer10)
c.1516del (p.Ile506LeufsTer10)
c.685del (p.Ile229LeufsTer10)
COSMIC COSMIC
12g.51920851A=CA2036241963ACVRL1c.1200A= (p.Gln400=)
c.1470A= (p.Gln490=)
c.948A= (p.Gln316=)
c.1512A= (p.Gln504=)
c.681A= (p.Gln227=)
12g.51920851A>CCA384906025ACVRL1c.1200A>C (p.Gln400His)
c.1470A>C (p.Gln490His)
c.948A>C (p.Gln316His)
c.1512A>C (p.Gln504His)
c.681A>C (p.Gln227His)
gnomAD v4
12g.51920851A>GCA479817075ACVRL1c.1200A>G (p.Gln400=)
c.1470A>G (p.Gln490=)
c.948A>G (p.Gln316=)
c.1512A>G (p.Gln504=)
c.681A>G (p.Gln227=)
ClinVar dbSNP gnomAD v3 gnomAD v4
12g.51920851A>TCA384906028ACVRL1c.1200A>T (p.Gln400His)
c.1470A>T (p.Gln490His)
c.948A>T (p.Gln316His)
c.1512A>T (p.Gln504His)
c.681A>T (p.Gln227His)
12g.51920852A>CCA384906032ACVRL1c.1201A>C (p.Lys401Gln)
c.1471A>C (p.Lys491Gln)
c.949A>C (p.Lys317Gln)
c.1513A>C (p.Lys505Gln)
c.682A>C (p.Lys228Gln)
12g.51920852A>GCA384906034ACVRL1c.1201A>G (p.Lys401Glu)
c.1471A>G (p.Lys491Glu)
c.949A>G (p.Lys317Glu)
c.1513A>G (p.Lys505Glu)
c.682A>G (p.Lys228Glu)
12g.51920852A>TCA384906035ACVRL1c.1201A>T (p.Lys401Ter)
c.1471A>T (p.Lys491Ter)
c.949A>T (p.Lys317Ter)
c.1513A>T (p.Lys505Ter)
c.682A>T (p.Lys228Ter)
12g.51920853A=CA2036241966ACVRL1c.1202A= (p.Lys401=)
c.1472A= (p.Lys491=)
c.950A= (p.Lys317=)
c.1514A= (p.Lys505=)
c.683A= (p.Lys228=)
12g.51920853A>CCA384906037ACVRL1c.1202A>C (p.Lys401Thr)
c.1472A>C (p.Lys491Thr)
c.950A>C (p.Lys317Thr)
c.1514A>C (p.Lys505Thr)
c.683A>C (p.Lys228Thr)
12g.51920853A>GCA384906039ACVRL1c.1202A>G (p.Lys401Arg)
c.1472A>G (p.Lys491Arg)
c.950A>G (p.Lys317Arg)
c.1514A>G (p.Lys505Arg)
c.683A>G (p.Lys228Arg)
12g.51920853A>TCA384906043ACVRL1c.1202A>T (p.Lys401Ile)
c.1472A>T (p.Lys491Ile)
c.950A>T (p.Lys317Ile)
c.1514A>T (p.Lys505Ile)
c.683A>T (p.Lys228Ile)
12g.51920854A>CCA384906059ACVRL1c.1203A>C (p.Lys401Asn)
c.1473A>C (p.Lys491Asn)
c.951A>C (p.Lys317Asn)
c.1515A>C (p.Lys505Asn)
c.684A>C (p.Lys228Asn)
12g.51920854A>GCA479817089ACVRL1c.1203A>G (p.Lys401=)
c.1473A>G (p.Lys491=)
c.951A>G (p.Lys317=)
c.1515A>G (p.Lys505=)
c.684A>G (p.Lys228=)
12g.51920854A>TCA384906067ACVRL1c.1203A>T (p.Lys401Asn)
c.1473A>T (p.Lys491Asn)
c.951A>T (p.Lys317Asn)
c.1515A>T (p.Lys505Asn)
c.684A>T (p.Lys228Asn)
12g.51920855A>CCA384906071ACVRL1c.1204A>C (p.Ile402Leu)
c.1474A>C (p.Ile492Leu)
c.952A>C (p.Ile318Leu)
c.1516A>C (p.Ile506Leu)
c.685A>C (p.Ile229Leu)
12g.51920855A>GCA384906072ACVRL1c.1204A>G (p.Ile402Val)
c.1474A>G (p.Ile492Val)
c.952A>G (p.Ile318Val)
c.1516A>G (p.Ile506Val)
c.685A>G (p.Ile229Val)

Number of alleles fetched