Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51913239G>ACA6572833ACVRL1c.202G>A (p.Gly68Ser)
c.103+704G>A (p.=)
c.244G>A (p.Gly82Ser)
dbSNP ExAC gnomAD
12g.51913239G>CCA384897890ACVRL1c.202G>C (p.Gly68Arg)
c.103+704G>C (p.=)
c.244G>C (p.Gly82Arg)
12g.51913239G=CA2036267093ACVRL1c.202G= (p.Gly68=)
c.103+704G= (p.=)
c.244G= (p.Gly82=)
12g.51913239G>TCA384897891ACVRL1c.202G>T (p.Gly68Cys)
c.103+704G>T (p.=)
c.244G>T (p.Gly82Cys)
12g.51913240G>ACA384897894ACVRL1c.203G>A (p.Gly68Asp)
c.103+705G>A (p.=)
c.245G>A (p.Gly82Asp)
12g.51913240G>CCA384897892ACVRL1c.203G>C (p.Gly68Ala)
c.103+705G>C (p.=)
c.245G>C (p.Gly82Ala)
12g.51913240G>TCA384897893ACVRL1c.203G>T (p.Gly68Val)
c.103+705G>T (p.=)
c.245G>T (p.Gly82Val)
12g.51913241C>ACA480063043ACVRL1c.204C>A (p.Gly68=)
c.103+706C>A (p.=)
c.246C>A (p.Gly82=)
12g.51913241C=CA2036267095ACVRL1c.204C= (p.Gly68=)
c.103+706C= (p.=)
c.246C= (p.Gly82=)
12g.51913241C>GCA480063044ACVRL1c.204C>G (p.Gly68=)
c.103+706C>G (p.=)
c.246C>G (p.Gly82=)
12g.51913241C>TCA480063046ACVRL1c.204C>T (p.Gly68=)
c.103+706C>T (p.=)
c.246C>T (p.Gly82=)
12g.51913242T>ACA384897895ACVRL1c.205T>A (p.Cys69Ser)
c.103+707T>A (p.=)
c.247T>A (p.Cys83Ser)
12g.51913242T>CCA384897896ACVRL1c.205T>C (p.Cys69Arg)
c.103+707T>C (p.=)
c.247T>C (p.Cys83Arg)
COSMIC COSMIC
12g.51913242T>GCA384897897ACVRL1c.205T>G (p.Cys69Gly)
c.103+707T>G (p.=)
c.247T>G (p.Cys83Gly)
12g.51913243G>ACA384897898ACVRL1c.206G>A (p.Cys69Tyr)
c.103+708G>A (p.=)
c.248G>A (p.Cys83Tyr)
ClinVar gnomAD
12g.51913243G>CCA384897899ACVRL1c.206G>C (p.Cys69Ser)
c.103+708G>C (p.=)
c.248G>C (p.Cys83Ser)
12g.51913243G=CA2036267099ACVRL1c.206G= (p.Cys69=)
c.103+708G= (p.=)
c.248G= (p.Cys83=)
12g.51913243G>TCA384897900ACVRL1c.206G>T (p.Cys69Phe)
c.103+708G>T (p.=)
c.248G>T (p.Cys83Phe)
ClinVar
12g.51913244C>ACA384897901ACVRL1c.207C>A (p.Cys69Ter)
c.103+709C>A (p.=)
c.249C>A (p.Cys83Ter)
ClinVar
12g.51913244C=CA2036267107ACVRL1c.207C= (p.Cys69=)
c.103+709C= (p.=)
c.249C= (p.Cys83=)
12g.51913244C>GCA384897902ACVRL1c.207C>G (p.Cys69Trp)
c.103+709C>G (p.=)
c.249C>G (p.Cys83Trp)
12g.51913244C>TCA6572834ACVRL1c.207C>T (p.Cys69=)
c.103+709C>T (p.=)
c.249C>T (p.Cys83=)
ClinVar dbSNP ExAC gnomAD COSMIC COSMIC
12g.51913245G>ACA384897903ACVRL1c.208G>A (p.Gly70Arg)
c.103+710G>A (p.=)
c.250G>A (p.Gly84Arg)
ClinVar gnomAD COSMIC COSMIC
12g.51913245G>CCA384897904ACVRL1c.208G>C (p.Gly70Arg)
c.103+710G>C (p.=)
c.250G>C (p.Gly84Arg)
12g.51913245G=CA2036267115ACVRL1c.208G= (p.Gly70=)
c.103+710G= (p.=)
c.250G= (p.Gly84=)
12g.51913245G>TCA384897905ACVRL1c.208G>T (p.Gly70Trp)
c.103+710G>T (p.=)
c.250G>T (p.Gly84Trp)
12g.51913246G>ACA384897908ACVRL1c.209G>A (p.Gly70Glu)
c.103+711G>A (p.=)
c.251G>A (p.Gly84Glu)
gnomAD
12g.51913246G>CCA384897907ACVRL1c.209G>C (p.Gly70Ala)
c.103+711G>C (p.=)
c.251G>C (p.Gly84Ala)
12g.51913246G=CA2036267122ACVRL1c.209G= (p.Gly70=)
c.103+711G= (p.=)
c.251G= (p.Gly84=)
12g.51913246G>TCA384897906ACVRL1c.209G>T (p.Gly70Val)
c.103+711G>T (p.=)
c.251G>T (p.Gly84Val)
12g.51913247G>ACA480063050ACVRL1c.210G>A (p.Gly70=)
c.103+712G>A (p.=)
c.252G>A (p.Gly84=)
12g.51913247G>CCA480063051ACVRL1c.210G>C (p.Gly70=)
c.103+712G>C (p.=)
c.252G>C (p.Gly84=)
12g.51913247G>TCA480063052ACVRL1c.210G>T (p.Gly70=)
c.103+712G>T (p.=)
c.252G>T (p.Gly84=)
12g.51913248A>CCA384897909ACVRL1c.211A>C (p.Asn71His)
c.103+713A>C (p.=)
c.253A>C (p.Asn85His)
12g.51913248A>GCA384897911ACVRL1c.211A>G (p.Asn71Asp)
c.103+713A>G (p.=)
c.253A>G (p.Asn85Asp)
12g.51913248A>TCA384897910ACVRL1c.211A>T (p.Asn71Tyr)
c.103+713A>T (p.=)
c.253A>T (p.Asn85Tyr)
12g.51913249A>CCA384897912ACVRL1c.212A>C (p.Asn71Thr)
c.103+714A>C (p.=)
c.254A>C (p.Asn85Thr)
12g.51913249A>GCA384897914ACVRL1c.212A>G (p.Asn71Ser)
c.103+714A>G (p.=)
c.254A>G (p.Asn85Ser)
12g.51913249A>TCA384897913ACVRL1c.212A>T (p.Asn71Ile)
c.103+714A>T (p.=)
c.254A>T (p.Asn85Ile)
12g.51913250C>ACA384897915ACVRL1c.213C>A (p.Asn71Lys)
c.103+715C>A (p.=)
c.255C>A (p.Asn85Lys)
12g.51913250C>GCA384897916ACVRL1c.213C>G (p.Asn71Lys)
c.103+715C>G (p.=)
c.255C>G (p.Asn85Lys)
12g.51913250C>TCA480063055ACVRL1c.213C>T (p.Asn71=)
c.103+715C>T (p.=)
c.255C>T (p.Asn85=)
12g.51913251T>ACA384897917ACVRL1c.214T>A (p.Leu72Met)
c.103+716T>A (p.=)
c.256T>A (p.Leu86Met)
12g.51913251T>CCA480063056ACVRL1c.214T>C (p.Leu72=)
c.103+716T>C (p.=)
c.256T>C (p.Leu86=)
12g.51913251T>GCA384897918ACVRL1c.214T>G (p.Leu72Val)
c.103+716T>G (p.=)
c.256T>G (p.Leu86Val)
12g.51913252T>ACA384897919ACVRL1c.215T>A (p.Leu72Ter)
c.103+717T>A (p.=)
c.257T>A (p.Leu86Ter)
12g.51913252T>CCA384897920ACVRL1c.215T>C (p.Leu72Ser)
c.103+717T>C (p.=)
c.257T>C (p.Leu86Ser)
12g.51913252T>GCA384897921ACVRL1c.215T>G (p.Leu72Trp)
c.103+717T>G (p.=)
c.257T>G (p.Leu86Trp)
12g.51913253G>ACA480063057ACVRL1c.216G>A (p.Leu72=)
c.103+718G>A (p.=)
c.258G>A (p.Leu86=)
12g.51913253G>CCA384897922ACVRL1c.216G>C (p.Leu72Phe)
c.103+718G>C (p.=)
c.258G>C (p.Leu86Phe)

Number of alleles fetched