Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51920830_51920831delinsGCCA2036241879ACVRL1c.1449_1450delinsGC (p.Leu483=)
c.927_928delinsGC (p.Leu309=)
c.1491_1492delinsGC (p.Leu497=)
c.1179_1180delinsGC (p.Leu393=)
c.660_661delinsGC (p.Leu220=)
12g.51920831C>ACA479816861ACVRL1c.1450C>A (p.Arg484=)
c.928C>A (p.Arg310=)
c.1492C>A (p.Arg498=)
c.1180C>A (p.Arg394=)
c.661C>A (p.Arg221=)
ClinVar
12g.51920831C=CA2036241893ACVRL1c.1450C= (p.Arg484=)
c.928C= (p.Arg310=)
c.1492C= (p.Arg498=)
c.1180C= (p.Arg394=)
c.661C= (p.Arg221=)
12g.51920831C>GCA384905800ACVRL1c.1450C>G (p.Arg484Gly)
c.928C>G (p.Arg310Gly)
c.1492C>G (p.Arg498Gly)
c.1180C>G (p.Arg394Gly)
c.661C>G (p.Arg221Gly)
ClinVar
12g.51920831C>TCA119404ACVRL1c.1450C>T (p.Arg484Trp)
c.928C>T (p.Arg310Trp)
c.1492C>T (p.Arg498Trp)
c.1180C>T (p.Arg394Trp)
c.661C>T (p.Arg221Trp)
ClinVar dbSNP gnomAD
12g.51920831delinsTGCA645294072ACVRL1c.1450delinsTG (p.Arg484TrpfsTer10)
c.928delinsTG (p.Arg310TrpfsTer10)
c.1492delinsTG (p.Arg498TrpfsTer10)
c.1180delinsTG (p.Arg394TrpfsTer10)
c.661delinsTG (p.Arg221TrpfsTer10)
ClinVar dbSNP
12g.51920832G>ACA323134ACVRL1c.1451G>A (p.Arg484Gln)
c.929G>A (p.Arg310Gln)
c.1493G>A (p.Arg498Gln)
c.1181G>A (p.Arg394Gln)
c.662G>A (p.Arg221Gln)
ClinVar dbSNP
12g.51920832G>CCA384905812ACVRL1c.1451G>C (p.Arg484Pro)
c.929G>C (p.Arg310Pro)
c.1493G>C (p.Arg498Pro)
c.1181G>C (p.Arg394Pro)
c.662G>C (p.Arg221Pro)
ClinVar
12g.51920832G=CA2036241910ACVRL1c.1451G= (p.Arg484=)
c.929G= (p.Arg310=)
c.1493G= (p.Arg498=)
c.1181G= (p.Arg394=)
c.662G= (p.Arg221=)
12g.51920832G>TCA384905817ACVRL1c.1451G>T (p.Arg484Leu)
c.929G>T (p.Arg310Leu)
c.1493G>T (p.Arg498Leu)
c.1181G>T (p.Arg394Leu)
c.662G>T (p.Arg221Leu)
ClinVar
12g.51920833G>ACA479816896ACVRL1c.1452G>A (p.Arg484=)
c.930G>A (p.Arg310=)
c.1494G>A (p.Arg498=)
c.1182G>A (p.Arg394=)
c.663G>A (p.Arg221=)
12g.51920833G>CCA479816900ACVRL1c.1452G>C (p.Arg484=)
c.930G>C (p.Arg310=)
c.1494G>C (p.Arg498=)
c.1182G>C (p.Arg394=)
c.663G>C (p.Arg221=)
12g.51920833G>TCA479816903ACVRL1c.1452G>T (p.Arg484=)
c.930G>T (p.Arg310=)
c.1494G>T (p.Arg498=)
c.1182G>T (p.Arg394=)
c.663G>T (p.Arg221=)
12g.51920834A=CA2036241914ACVRL1c.1453A= (p.Ile485=)
c.931A= (p.Ile311=)
c.1495A= (p.Ile499=)
c.1183A= (p.Ile395=)
c.664A= (p.Ile222=)
12g.51920834A>CCA384905820ACVRL1c.1453A>C (p.Ile485Leu)
c.931A>C (p.Ile311Leu)
c.1495A>C (p.Ile499Leu)
c.1183A>C (p.Ile395Leu)
c.664A>C (p.Ile222Leu)
12g.51920834A>GCA384905830ACVRL1c.1453A>G (p.Ile485Val)
c.931A>G (p.Ile311Val)
c.1495A>G (p.Ile499Val)
c.1183A>G (p.Ile395Val)
c.664A>G (p.Ile222Val)
12g.51920834A>TCA384905831ACVRL1c.1453A>T (p.Ile485Phe)
c.931A>T (p.Ile311Phe)
c.1495A>T (p.Ile499Phe)
c.1183A>T (p.Ile395Phe)
c.664A>T (p.Ile222Phe)
12g.51920835T>ACA384905835ACVRL1c.1454T>A (p.Ile485Asn)
c.932T>A (p.Ile311Asn)
c.1496T>A (p.Ile499Asn)
c.1184T>A (p.Ile395Asn)
c.665T>A (p.Ile222Asn)
12g.51920835T>CCA384905843ACVRL1c.1454T>C (p.Ile485Thr)
c.932T>C (p.Ile311Thr)
c.1496T>C (p.Ile499Thr)
c.1184T>C (p.Ile395Thr)
c.665T>C (p.Ile222Thr)
12g.51920835T>GCA384905841ACVRL1c.1454T>G (p.Ile485Ser)
c.932T>G (p.Ile311Ser)
c.1496T>G (p.Ile499Ser)
c.1184T>G (p.Ile395Ser)
c.665T>G (p.Ile222Ser)
12g.51920836C>ACA479816923ACVRL1c.1455C>A (p.Ile485=)
c.933C>A (p.Ile311=)
c.1497C>A (p.Ile499=)
c.1185C>A (p.Ile395=)
c.666C>A (p.Ile222=)
12g.51920836C>GCA384905846ACVRL1c.1455C>G (p.Ile485Met)
c.933C>G (p.Ile311Met)
c.1497C>G (p.Ile499Met)
c.1185C>G (p.Ile395Met)
c.666C>G (p.Ile222Met)
12g.51920836C>TCA479816929ACVRL1c.1455C>T (p.Ile485=)
c.933C>T (p.Ile311=)
c.1497C>T (p.Ile499=)
c.1185C>T (p.Ile395=)
c.666C>T (p.Ile222=)
12g.51920836_51920839delinsCAAGCA2036241918ACVRL1c.1455_1458delinsCAAG (p.Ile485=)
c.933_936delinsCAAG (p.Ile311=)
c.1497_1500delinsCAAG (p.Ile499=)
c.1185_1188delinsCAAG (p.Ile395=)
c.666_669delinsCAAG (p.Ile222=)
12g.51920837A=CA2036241922ACVRL1c.1456A= (p.Lys486=)
c.934A= (p.Lys312=)
c.1498A= (p.Lys500=)
c.1186A= (p.Lys396=)
c.667A= (p.Lys223=)
12g.51920837A>CCA384905848ACVRL1c.1456A>C (p.Lys486Gln)
c.934A>C (p.Lys312Gln)
c.1498A>C (p.Lys500Gln)
c.1186A>C (p.Lys396Gln)
c.667A>C (p.Lys223Gln)
12g.51920837A>GCA236367781ACVRL1c.1456A>G (p.Lys486Glu)
c.934A>G (p.Lys312Glu)
c.1498A>G (p.Lys500Glu)
c.1186A>G (p.Lys396Glu)
c.667A>G (p.Lys223Glu)
dbSNP
12g.51920837A>TCA384905872ACVRL1c.1456A>T (p.Lys486Ter)
c.934A>T (p.Lys312Ter)
c.1498A>T (p.Lys500Ter)
c.1186A>T (p.Lys396Ter)
c.667A>T (p.Lys223Ter)
12g.51920841_51920843delCA2036241920ACVRL1c.1460_1462del (p.Lys487del)
c.938_940del (p.Lys313del)
c.1502_1504del (p.Lys501del)
c.1190_1192del (p.Lys397del)
c.671_673del (p.Lys224del)
dbSNP
12g.51920838A>CCA384905876ACVRL1c.1457A>C (p.Lys486Thr)
c.935A>C (p.Lys312Thr)
c.1499A>C (p.Lys500Thr)
c.1187A>C (p.Lys396Thr)
c.668A>C (p.Lys223Thr)
12g.51920838A>GCA384905883ACVRL1c.1457A>G (p.Lys486Arg)
c.935A>G (p.Lys312Arg)
c.1499A>G (p.Lys500Arg)
c.1187A>G (p.Lys396Arg)
c.668A>G (p.Lys223Arg)
12g.51920838A>TCA384905885ACVRL1c.1457A>T (p.Lys486Met)
c.935A>T (p.Lys312Met)
c.1499A>T (p.Lys500Met)
c.1187A>T (p.Lys396Met)
c.668A>T (p.Lys223Met)
12g.51920839G>ACA479816953ACVRL1c.1458G>A (p.Lys486=)
c.936G>A (p.Lys312=)
c.1500G>A (p.Lys500=)
c.1188G>A (p.Lys396=)
c.669G>A (p.Lys223=)
12g.51920839G>CCA384905888ACVRL1c.1458G>C (p.Lys486Asn)
c.936G>C (p.Lys312Asn)
c.1500G>C (p.Lys500Asn)
c.1188G>C (p.Lys396Asn)
c.669G>C (p.Lys223Asn)
12g.51920839G>TCA384905890ACVRL1c.1458G>T (p.Lys486Asn)
c.936G>T (p.Lys312Asn)
c.1500G>T (p.Lys500Asn)
c.1188G>T (p.Lys396Asn)
c.669G>T (p.Lys223Asn)
12g.51920840A=CA2036241927ACVRL1c.1459A= (p.Lys487=)
c.937A= (p.Lys313=)
c.1501A= (p.Lys501=)
c.1189A= (p.Lys397=)
c.670A= (p.Lys224=)
12g.51920840A>CCA384905893ACVRL1c.1459A>C (p.Lys487Gln)
c.937A>C (p.Lys313Gln)
c.1501A>C (p.Lys501Gln)
c.1189A>C (p.Lys397Gln)
c.670A>C (p.Lys224Gln)
ClinVar
12g.51920840A>GCA384905894ACVRL1c.1459A>G (p.Lys487Glu)
c.937A>G (p.Lys313Glu)
c.1501A>G (p.Lys501Glu)
c.1189A>G (p.Lys397Glu)
c.670A>G (p.Lys224Glu)
ClinVar
12g.51920840A>TCA384905895ACVRL1c.1459A>T (p.Lys487Ter)
c.937A>T (p.Lys313Ter)
c.1501A>T (p.Lys501Ter)
c.1189A>T (p.Lys397Ter)
c.670A>T (p.Lys224Ter)
12g.51920841A=CA2036241937ACVRL1c.1460A= (p.Lys487=)
c.938A= (p.Lys313=)
c.1502A= (p.Lys501=)
c.1190A= (p.Lys397=)
c.671A= (p.Lys224=)
12g.51920841A>CCA384905912ACVRL1c.1460A>C (p.Lys487Thr)
c.938A>C (p.Lys313Thr)
c.1502A>C (p.Lys501Thr)
c.1190A>C (p.Lys397Thr)
c.671A>C (p.Lys224Thr)
ClinVar
12g.51920841A>GCA384905897ACVRL1c.1460A>G (p.Lys487Arg)
c.938A>G (p.Lys313Arg)
c.1502A>G (p.Lys501Arg)
c.1190A>G (p.Lys397Arg)
c.671A>G (p.Lys224Arg)
12g.51920841A>TCA384905896ACVRL1c.1460A>T (p.Lys487Met)
c.938A>T (p.Lys313Met)
c.1502A>T (p.Lys501Met)
c.1190A>T (p.Lys397Met)
c.671A>T (p.Lys224Met)
12g.51920842G>ACA479816970ACVRL1c.1461G>A (p.Lys487=)
c.939G>A (p.Lys313=)
c.1503G>A (p.Lys501=)
c.1191G>A (p.Lys397=)
c.672G>A (p.Lys224=)
12g.51920842G>CCA384905915ACVRL1c.1461G>C (p.Lys487Asn)
c.939G>C (p.Lys313Asn)
c.1503G>C (p.Lys501Asn)
c.1191G>C (p.Lys397Asn)
c.672G>C (p.Lys224Asn)
12g.51920842G>TCA384905917ACVRL1c.1461G>T (p.Lys487Asn)
c.939G>T (p.Lys313Asn)
c.1503G>T (p.Lys501Asn)
c.1191G>T (p.Lys397Asn)
c.672G>T (p.Lys224Asn)
12g.51920843A>CCA384905926ACVRL1c.1462A>C (p.Thr488Pro)
c.940A>C (p.Thr314Pro)
c.1504A>C (p.Thr502Pro)
c.1192A>C (p.Thr398Pro)
c.673A>C (p.Thr225Pro)
12g.51920843A>GCA384905928ACVRL1c.1462A>G (p.Thr488Ala)
c.940A>G (p.Thr314Ala)
c.1504A>G (p.Thr502Ala)
c.1192A>G (p.Thr398Ala)
c.673A>G (p.Thr225Ala)
12g.51920843A>TCA384905947ACVRL1c.1462A>T (p.Thr488Ser)
c.940A>T (p.Thr314Ser)
c.1504A>T (p.Thr502Ser)
c.1192A>T (p.Thr398Ser)
c.673A>T (p.Thr225Ser)
12g.51920844C>ACA384905961ACVRL1c.1463C>A (p.Thr488Lys)
c.941C>A (p.Thr314Lys)
c.1505C>A (p.Thr502Lys)
c.1193C>A (p.Thr398Lys)
c.674C>A (p.Thr225Lys)

Number of alleles fetched