Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51915409_51915414delinsTACACACA2036269512ACVRL1c.687_692delinsTACACA (p.Gly229=)
c.957_962delinsTACACA (p.Gly319=)
c.435_440delinsTACACA (p.Gly145=)
c.999_1004delinsTACACA (p.Gly333=)
c.168_173delinsTACACA (p.Gly56=)
12g.51915410_51915414delCA605238841ACVRL1c.688_692del (p.Thr230GlyfsTer?)
c.958_962del (p.Thr320GlyfsTer?)
c.436_440del (p.Thr146GlyfsTer?)
c.1000_1004del (p.Thr334GlyfsTer?)
c.169_173del (p.Thr57GlyfsTer?)
 dbSNP gnomAD v2
12g.51915412A>CCA480063256ACVRL1c.690A>C (p.Thr230=)
c.960A>C (p.Thr320=)
c.438A>C (p.Thr146=)
c.1002A>C (p.Thr334=)
c.171A>C (p.Thr57=)
12g.51915412A>GCA480063257ACVRL1c.690A>G (p.Thr230=)
c.960A>G (p.Thr320=)
c.438A>G (p.Thr146=)
c.1002A>G (p.Thr334=)
c.171A>G (p.Thr57=)
12g.51915412A>TCA480063258ACVRL1c.690A>T (p.Thr230=)
c.960A>T (p.Thr320=)
c.438A>T (p.Thr146=)
c.1002A>T (p.Thr334=)
c.171A>T (p.Thr57=)
12g.51915413C>ACA384901319ACVRL1c.691C>A (p.Gln231Lys)
c.961C>A (p.Gln321Lys)
c.439C>A (p.Gln147Lys)
c.1003C>A (p.Gln335Lys)
c.172C>A (p.Gln58Lys)
12g.51915413C>GCA384901322ACVRL1c.691C>G (p.Gln231Glu)
c.961C>G (p.Gln321Glu)
c.439C>G (p.Gln147Glu)
c.1003C>G (p.Gln335Glu)
c.172C>G (p.Gln58Glu)
12g.51915413C>TCA384901324ACVRL1c.691C>T (p.Gln231Ter)
c.961C>T (p.Gln321Ter)
c.439C>T (p.Gln147Ter)
c.1003C>T (p.Gln335Ter)
c.172C>T (p.Gln58Ter)
 ClinVar dbSNP
12g.51915414A>CCA384901325ACVRL1c.692A>C (p.Gln231Pro)
c.962A>C (p.Gln321Pro)
c.440A>C (p.Gln147Pro)
c.1004A>C (p.Gln335Pro)
c.173A>C (p.Gln58Pro)
12g.51915414A>GCA384901326ACVRL1c.692A>G (p.Gln231Arg)
c.962A>G (p.Gln321Arg)
c.440A>G (p.Gln147Arg)
c.1004A>G (p.Gln335Arg)
c.173A>G (p.Gln58Arg)
12g.51915414A>TCA384901327ACVRL1c.692A>T (p.Gln231Leu)
c.962A>T (p.Gln321Leu)
c.440A>T (p.Gln147Leu)
c.1004A>T (p.Gln335Leu)
c.173A>T (p.Gln58Leu)
12g.51915414_51915415delCA2580086484ACVRL1c.692_693del (p.Gln231ArgfsTer?)
c.962_963del (p.Gln321ArgfsTer?)
c.440_441del (p.Gln147ArgfsTer?)
c.1004_1005del (p.Gln335ArgfsTer?)
c.173_174del (p.Gln58ArgfsTer?)
 ClinVar
12g.51915415G>ACA480063259ACVRL1c.693G>A (p.Gln231=)
c.963G>A (p.Gln321=)
c.441G>A (p.Gln147=)
c.1005G>A (p.Gln335=)
c.174G>A (p.Gln58=)
 gnomAD v4 COSMIC COSMIC
12g.51915415G>CCA384901329ACVRL1c.693G>C (p.Gln231His)
c.963G>C (p.Gln321His)
c.441G>C (p.Gln147His)
c.1005G>C (p.Gln335His)
c.174G>C (p.Gln58His)
12g.51915415G>TCA384901331ACVRL1c.693G>T (p.Gln231His)
c.963G>T (p.Gln321His)
c.441G>T (p.Gln147His)
c.1005G>T (p.Gln335His)
c.174G>T (p.Gln58His)
12g.51915416G>ACA384901333ACVRL1c.694G>A (p.Gly232Ser)
c.964G>A (p.Gly322Ser)
c.442G>A (p.Gly148Ser)
c.1006G>A (p.Gly336Ser)
c.175G>A (p.Gly59Ser)
12g.51915416G>CCA384901340ACVRL1c.694G>C (p.Gly232Arg)
c.964G>C (p.Gly322Arg)
c.442G>C (p.Gly148Arg)
c.1006G>C (p.Gly336Arg)
c.175G>C (p.Gly59Arg)
12g.51915416G=CA2036269514ACVRL1c.694G= (p.Gly232=)
c.964G= (p.Gly322=)
c.442G= (p.Gly148=)
c.1006G= (p.Gly336=)
c.175G= (p.Gly59=)
12g.51915416G>TCA384901342ACVRL1c.694G>T (p.Gly232Cys)
c.964G>T (p.Gly322Cys)
c.442G>T (p.Gly148Cys)
c.1006G>T (p.Gly336Cys)
c.175G>T (p.Gly59Cys)
12g.51915416_51915417insTCCA605238842ACVRL1c.694_695insTC (p.Gly232ValfsTer?)
c.964_965insTC (p.Gly322ValfsTer?)
c.442_443insTC (p.Gly148ValfsTer?)
c.1006_1007insTC (p.Gly336ValfsTer?)
c.175_176insTC (p.Gly59ValfsTer?)
 dbSNP gnomAD v2
12g.51915417G>ACA6573026ACVRL1c.695G>A (p.Gly232Asp)
c.965G>A (p.Gly322Asp)
c.443G>A (p.Gly148Asp)
c.1007G>A (p.Gly336Asp)
c.176G>A (p.Gly59Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12g.51915417G>CCA384901344ACVRL1c.695G>C (p.Gly232Ala)
c.965G>C (p.Gly322Ala)
c.443G>C (p.Gly148Ala)
c.1007G>C (p.Gly336Ala)
c.176G>C (p.Gly59Ala)
12g.51915417G=CA2036269515ACVRL1c.695G= (p.Gly232=)
c.965G= (p.Gly322=)
c.443G= (p.Gly148=)
c.1007G= (p.Gly336=)
c.176G= (p.Gly59=)
12g.51915417G>TCA384901343ACVRL1c.695G>T (p.Gly232Val)
c.965G>T (p.Gly322Val)
c.443G>T (p.Gly148Val)
c.1007G>T (p.Gly336Val)
c.176G>T (p.Gly59Val)
12g.51915418C>ACA480063260ACVRL1c.696C>A (p.Gly232=)
c.966C>A (p.Gly322=)
c.444C>A (p.Gly148=)
c.1008C>A (p.Gly336=)
c.177C>A (p.Gly59=)
12g.51915418C=CA2036269516ACVRL1c.696C= (p.Gly232=)
c.966C= (p.Gly322=)
c.444C= (p.Gly148=)
c.1008C= (p.Gly336=)
c.177C= (p.Gly59=)
12g.51915418C>GCA480063261ACVRL1c.696C>G (p.Gly232=)
c.966C>G (p.Gly322=)
c.444C>G (p.Gly148=)
c.1008C>G (p.Gly336=)
c.177C>G (p.Gly59=)
 gnomAD v4
12g.51915418C>TCA480063262ACVRL1c.696C>T (p.Gly232=)
c.966C>T (p.Gly322=)
c.444C>T (p.Gly148=)
c.1008C>T (p.Gly336=)
c.177C>T (p.Gly59=)
12g.51915418_51915419insCGTATCATTACA605238843ACVRL1c.696_697insCGTATCATTA (p.Lys233ArgfsTer?)
c.966_967insCGTATCATTA (p.Lys323ArgfsTer?)
c.444_445insCGTATCATTA (p.Lys149ArgfsTer?)
c.1008_1009insCGTATCATTA (p.Lys337ArgfsTer?)
c.177_178insCGTATCATTA (p.Lys60ArgfsTer?)
 dbSNP gnomAD v2
12g.51915419A>CCA384901345ACVRL1c.697A>C (p.Lys233Gln)
c.967A>C (p.Lys323Gln)
c.445A>C (p.Lys149Gln)
c.1009A>C (p.Lys337Gln)
c.178A>C (p.Lys60Gln)
12g.51915419A>GCA384901351ACVRL1c.697A>G (p.Lys233Glu)
c.967A>G (p.Lys323Glu)
c.445A>G (p.Lys149Glu)
c.1009A>G (p.Lys337Glu)
c.178A>G (p.Lys60Glu)
 ClinVar
12g.51915419A>TCA384901353ACVRL1c.697A>T (p.Lys233Ter)
c.967A>T (p.Lys323Ter)
c.445A>T (p.Lys149Ter)
c.1009A>T (p.Lys337Ter)
c.178A>T (p.Lys60Ter)
12g.51915421dupCA2695216748ACVRL1c.699dup (p.Pro234ThrfsTer?)
c.969dup (p.Pro324ThrfsTer?)
c.447dup (p.Pro150ThrfsTer?)
c.1011dup (p.Pro338ThrfsTer?)
c.180dup (p.Pro61ThrfsTer?)
12g.51915420A>CCA384901356ACVRL1c.698A>C (p.Lys233Thr)
c.968A>C (p.Lys323Thr)
c.446A>C (p.Lys149Thr)
c.1010A>C (p.Lys337Thr)
c.179A>C (p.Lys60Thr)
 ClinVar
12g.51915420A>GCA384901358ACVRL1c.698A>G (p.Lys233Arg)
c.968A>G (p.Lys323Arg)
c.446A>G (p.Lys149Arg)
c.1010A>G (p.Lys337Arg)
c.179A>G (p.Lys60Arg)
12g.51915420A>TCA384901360ACVRL1c.698A>T (p.Lys233Ile)
c.968A>T (p.Lys323Ile)
c.446A>T (p.Lys149Ile)
c.1010A>T (p.Lys337Ile)
c.179A>T (p.Lys60Ile)
12g.51915421A=CA2036269517ACVRL1c.699A= (p.Lys233=)
c.969A= (p.Lys323=)
c.447A= (p.Lys149=)
c.1011A= (p.Lys337=)
c.180A= (p.Lys60=)
12g.51915421A>CCA6573027ACVRL1c.699A>C (p.Lys233Asn)
c.969A>C (p.Lys323Asn)
c.447A>C (p.Lys149Asn)
c.1011A>C (p.Lys337Asn)
c.180A>C (p.Lys60Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915421A>GCA480063263ACVRL1c.699A>G (p.Lys233=)
c.969A>G (p.Lys323=)
c.447A>G (p.Lys149=)
c.1011A>G (p.Lys337=)
c.180A>G (p.Lys60=)
 ClinVar gnomAD v4
12g.51915421A>TCA384901366ACVRL1c.699A>T (p.Lys233Asn)
c.969A>T (p.Lys323Asn)
c.447A>T (p.Lys149Asn)
c.1011A>T (p.Lys337Asn)
c.180A>T (p.Lys60Asn)
12g.51915422C>ACA384901368ACVRL1c.700C>A (p.Pro234Thr)
c.970C>A (p.Pro324Thr)
c.448C>A (p.Pro150Thr)
c.1012C>A (p.Pro338Thr)
c.181C>A (p.Pro61Thr)
12g.51915422C>GCA384901371ACVRL1c.700C>G (p.Pro234Ala)
c.970C>G (p.Pro324Ala)
c.448C>G (p.Pro150Ala)
c.1012C>G (p.Pro338Ala)
c.181C>G (p.Pro61Ala)
12g.51915422C>TCA384901373ACVRL1c.700C>T (p.Pro234Ser)
c.970C>T (p.Pro324Ser)
c.448C>T (p.Pro150Ser)
c.1012C>T (p.Pro338Ser)
c.181C>T (p.Pro61Ser)
12g.51915422_51915427delCA2565860346ACVRL1c.700_705del (p.Pro234_Ala235del)
c.970_975del (p.Pro324_Ala325del)
c.448_453del (p.Pro150_Ala151del)
c.1012_1017del (p.Pro338_Ala339del)
c.181_186del (p.Pro61_Ala62del)
12g.51915423C>ACA6573028ACVRL1c.701C>A (p.Pro234Gln)
c.971C>A (p.Pro324Gln)
c.449C>A (p.Pro150Gln)
c.1013C>A (p.Pro338Gln)
c.182C>A (p.Pro61Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915423C=CA2036269518ACVRL1c.701C= (p.Pro234=)
c.971C= (p.Pro324=)
c.449C= (p.Pro150=)
c.1013C= (p.Pro338=)
c.182C= (p.Pro61=)
12g.51915423C>GCA384901377ACVRL1c.701C>G (p.Pro234Arg)
c.971C>G (p.Pro324Arg)
c.449C>G (p.Pro150Arg)
c.1013C>G (p.Pro338Arg)
c.182C>G (p.Pro61Arg)
12g.51915423C>TCA384901375ACVRL1c.701C>T (p.Pro234Leu)
c.971C>T (p.Pro324Leu)
c.449C>T (p.Pro150Leu)
c.1013C>T (p.Pro338Leu)
c.182C>T (p.Pro61Leu)
 COSMIC COSMIC
12g.51915423_51915424insGCGACAAGCA2580086485ACVRL1c.701_702insGCGACAAG (p.Ala235ArgfsTer32)
c.971_972insGCGACAAG (p.Ala325ArgfsTer32)
c.449_450insGCGACAAG (p.Ala151ArgfsTer32)
c.1013_1014insGCGACAAG (p.Ala339ArgfsTer32)
c.182_183insGCGACAAG (p.Ala62ArgfsTer32)
 ClinVar
12g.51915424delCA2695216749ACVRL1c.702del (p.Ala235ProfsTer29)
c.972del (p.Ala325ProfsTer29)
c.450del (p.Ala151ProfsTer29)
c.1014del (p.Ala339ProfsTer29)
c.183del (p.Ala62ProfsTer29)
12g.51915424A=CA2036269519ACVRL1c.702A= (p.Pro234=)
c.972A= (p.Pro324=)
c.450A= (p.Pro150=)
c.1014A= (p.Pro338=)
c.183A= (p.Pro61=)
12g.51915424A>CCA480063266ACVRL1c.702A>C (p.Pro234=)
c.972A>C (p.Pro324=)
c.450A>C (p.Pro150=)
c.1014A>C (p.Pro338=)
c.183A>C (p.Pro61=)
12g.51915424A>GCA480063265ACVRL1c.702A>G (p.Pro234=)
c.972A>G (p.Pro324=)
c.450A>G (p.Pro150=)
c.1014A>G (p.Pro338=)
c.183A>G (p.Pro61=)
 dbSNP gnomAD v2
12g.51915424A>TCA480063264ACVRL1c.702A>T (p.Pro234=)
c.972A>T (p.Pro324=)
c.450A>T (p.Pro150=)
c.1014A>T (p.Pro338=)
c.183A>T (p.Pro61=)
12g.51915425G>ACA384901381ACVRL1c.703G>A (p.Ala235Thr)
c.973G>A (p.Ala325Thr)
c.451G>A (p.Ala151Thr)
c.1015G>A (p.Ala339Thr)
c.184G>A (p.Ala62Thr)
12g.51915425G>CCA384901385ACVRL1c.703G>C (p.Ala235Pro)
c.973G>C (p.Ala325Pro)
c.451G>C (p.Ala151Pro)
c.1015G>C (p.Ala339Pro)
c.184G>C (p.Ala62Pro)
12g.51915425G>TCA384901392ACVRL1c.703G>T (p.Ala235Ser)
c.973G>T (p.Ala325Ser)
c.451G>T (p.Ala151Ser)
c.1015G>T (p.Ala339Ser)
c.184G>T (p.Ala62Ser)
12g.51915426C>ACA384901396ACVRL1c.704C>A (p.Ala235Asp)
c.974C>A (p.Ala325Asp)
c.452C>A (p.Ala151Asp)
c.1016C>A (p.Ala339Asp)
c.185C>A (p.Ala62Asp)
12g.51915426C>GCA384901397ACVRL1c.704C>G (p.Ala235Gly)
c.974C>G (p.Ala325Gly)
c.452C>G (p.Ala151Gly)
c.1016C>G (p.Ala339Gly)
c.185C>G (p.Ala62Gly)
 ClinVar
12g.51915426C>TCA384901398ACVRL1c.704C>T (p.Ala235Val)
c.974C>T (p.Ala325Val)
c.452C>T (p.Ala151Val)
c.1016C>T (p.Ala339Val)
c.185C>T (p.Ala62Val)
12g.51915427C>ACA480063267ACVRL1c.705C>A (p.Ala235=)
c.975C>A (p.Ala325=)
c.453C>A (p.Ala151=)
c.1017C>A (p.Ala339=)
c.186C>A (p.Ala62=)
12g.51915427C>GCA480063268ACVRL1c.705C>G (p.Ala235=)
c.975C>G (p.Ala325=)
c.453C>G (p.Ala151=)
c.1017C>G (p.Ala339=)
c.186C>G (p.Ala62=)
12g.51915427C>TCA480063269ACVRL1c.705C>T (p.Ala235=)
c.975C>T (p.Ala325=)
c.453C>T (p.Ala151=)
c.1017C>T (p.Ala339=)
c.186C>T (p.Ala62=)
12g.51915428A=CA2036269520ACVRL1c.706A= (p.Ile236=)
c.976A= (p.Ile326=)
c.454A= (p.Ile152=)
c.1018A= (p.Ile340=)
c.187A= (p.Ile63=)
12g.51915428A>CCA384901399ACVRL1c.706A>C (p.Ile236Leu)
c.976A>C (p.Ile326Leu)
c.454A>C (p.Ile152Leu)
c.1018A>C (p.Ile340Leu)
c.187A>C (p.Ile63Leu)
12g.51915428A>GCA236364146ACVRL1c.706A>G (p.Ile236Val)
c.976A>G (p.Ile326Val)
c.454A>G (p.Ile152Val)
c.1018A>G (p.Ile340Val)
c.187A>G (p.Ile63Val)
 dbSNP gnomAD v4
12g.51915428A>TCA384901400ACVRL1c.706A>T (p.Ile236Phe)
c.976A>T (p.Ile326Phe)
c.454A>T (p.Ile152Phe)
c.1018A>T (p.Ile340Phe)
c.187A>T (p.Ile63Phe)
12g.51915429T>ACA384901401ACVRL1c.707T>A (p.Ile236Asn)
c.977T>A (p.Ile326Asn)
c.455T>A (p.Ile152Asn)
c.1019T>A (p.Ile340Asn)
c.188T>A (p.Ile63Asn)
12g.51915429T>CCA384901402ACVRL1c.707T>C (p.Ile236Thr)
c.977T>C (p.Ile326Thr)
c.455T>C (p.Ile152Thr)
c.1019T>C (p.Ile340Thr)
c.188T>C (p.Ile63Thr)
 ClinVar
12g.51915429T>GCA384901404ACVRL1c.707T>G (p.Ile236Ser)
c.977T>G (p.Ile326Ser)
c.455T>G (p.Ile152Ser)
c.1019T>G (p.Ile340Ser)
c.188T>G (p.Ile63Ser)
12g.51915430T>ACA480063270ACVRL1c.708T>A (p.Ile236=)
c.978T>A (p.Ile326=)
c.456T>A (p.Ile152=)
c.1020T>A (p.Ile340=)
c.189T>A (p.Ile63=)
12g.51915430T>CCA6573029ACVRL1c.708T>C (p.Ile236=)
c.978T>C (p.Ile326=)
c.456T>C (p.Ile152=)
c.1020T>C (p.Ile340=)
c.189T>C (p.Ile63=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915430T>GCA384901406ACVRL1c.708T>G (p.Ile236Met)
c.978T>G (p.Ile326Met)
c.456T>G (p.Ile152Met)
c.1020T>G (p.Ile340Met)
c.189T>G (p.Ile63Met)
12g.51915430T=CA2036269521ACVRL1c.708T= (p.Ile236=)
c.978T= (p.Ile326=)
c.456T= (p.Ile152=)
c.1020T= (p.Ile340=)
c.189T= (p.Ile63=)
12g.51915431G>ACA384901410ACVRL1c.709G>A (p.Ala237Thr)
c.979G>A (p.Ala327Thr)
c.457G>A (p.Ala153Thr)
c.1021G>A (p.Ala341Thr)
c.190G>A (p.Ala64Thr)
12g.51915431G>CCA384901417ACVRL1c.709G>C (p.Ala237Pro)
c.979G>C (p.Ala327Pro)
c.457G>C (p.Ala153Pro)
c.1021G>C (p.Ala341Pro)
c.190G>C (p.Ala64Pro)
 ClinVar dbSNP
12g.51915431G=CA2036269522ACVRL1c.709G= (p.Ala237=)
c.979G= (p.Ala327=)
c.457G= (p.Ala153=)
c.1021G= (p.Ala341=)
c.190G= (p.Ala64=)
12g.51915431G>TCA384901416ACVRL1c.709G>T (p.Ala237Ser)
c.979G>T (p.Ala327Ser)
c.457G>T (p.Ala153Ser)
c.1021G>T (p.Ala341Ser)
c.190G>T (p.Ala64Ser)
12g.51915432C>ACA384901418ACVRL1c.710C>A (p.Ala237Asp)
c.980C>A (p.Ala327Asp)
c.458C>A (p.Ala153Asp)
c.1022C>A (p.Ala341Asp)
c.191C>A (p.Ala64Asp)
 ClinVar dbSNP
12g.51915432C=CA2036269523ACVRL1c.710C= (p.Ala237=)
c.980C= (p.Ala327=)
c.458C= (p.Ala153=)
c.1022C= (p.Ala341=)
c.191C= (p.Ala64=)
12g.51915432C>GCA384901419ACVRL1c.710C>G (p.Ala237Gly)
c.980C>G (p.Ala327Gly)
c.458C>G (p.Ala153Gly)
c.1022C>G (p.Ala341Gly)
c.191C>G (p.Ala64Gly)
12g.51915432C>TCA6573030ACVRL1c.710C>T (p.Ala237Val)
c.980C>T (p.Ala327Val)
c.458C>T (p.Ala153Val)
c.1022C>T (p.Ala341Val)
c.191C>T (p.Ala64Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915433C>ACA480063271ACVRL1c.711C>A (p.Ala237=)
c.981C>A (p.Ala327=)
c.459C>A (p.Ala153=)
c.1023C>A (p.Ala341=)
c.192C>A (p.Ala64=)
12g.51915433C>GCA480063272ACVRL1c.711C>G (p.Ala237=)
c.981C>G (p.Ala327=)
c.459C>G (p.Ala153=)
c.1023C>G (p.Ala341=)
c.192C>G (p.Ala64=)
12g.51915433C>TCA480063273ACVRL1c.711C>T (p.Ala237=)
c.981C>T (p.Ala327=)
c.459C>T (p.Ala153=)
c.1023C>T (p.Ala341=)
c.192C>T (p.Ala64=)
 gnomAD v4
12g.51915434C>ACA384901421ACVRL1c.712C>A (p.His238Asn)
c.982C>A (p.His328Asn)
c.460C>A (p.His154Asn)
c.1024C>A (p.His342Asn)
c.193C>A (p.His65Asn)
12g.51915434C=CA2036269524ACVRL1c.712C= (p.His238=)
c.982C= (p.His328=)
c.460C= (p.His154=)
c.1024C= (p.His342=)
c.193C= (p.His65=)
12g.51915434C>GCA384901422ACVRL1c.712C>G (p.His238Asp)
c.982C>G (p.His328Asp)
c.460C>G (p.His154Asp)
c.1024C>G (p.His342Asp)
c.193C>G (p.His65Asp)
 ClinVar dbSNP
12g.51915434C>TCA384901425ACVRL1c.712C>T (p.His238Tyr)
c.982C>T (p.His328Tyr)
c.460C>T (p.His154Tyr)
c.1024C>T (p.His342Tyr)
c.193C>T (p.His65Tyr)
 ClinVar dbSNP
12g.51915435A>CCA384901430ACVRL1c.713A>C (p.His238Pro)
c.983A>C (p.His328Pro)
c.461A>C (p.His154Pro)
c.1025A>C (p.His342Pro)
c.194A>C (p.His65Pro)
 ClinVar dbSNP
12g.51915435A>GCA384901432ACVRL1c.713A>G (p.His238Arg)
c.983A>G (p.His328Arg)
c.461A>G (p.His154Arg)
c.1025A>G (p.His342Arg)
c.194A>G (p.His65Arg)
 ClinVar
12g.51915435A>TCA384901433ACVRL1c.713A>T (p.His238Leu)
c.983A>T (p.His328Leu)
c.461A>T (p.His154Leu)
c.1025A>T (p.His342Leu)
c.194A>T (p.His65Leu)
12g.51915436C>ACA384901435ACVRL1c.714C>A (p.His238Gln)
c.984C>A (p.His328Gln)
c.462C>A (p.His154Gln)
c.1026C>A (p.His342Gln)
c.195C>A (p.His65Gln)
 ClinVar dbSNP
12g.51915436C=CA2036269525ACVRL1c.714C= (p.His238=)
c.984C= (p.His328=)
c.462C= (p.His154=)
c.1026C= (p.His342=)
c.195C= (p.His65=)
12g.51915436C>GCA384901436ACVRL1c.714C>G (p.His238Gln)
c.984C>G (p.His328Gln)
c.462C>G (p.His154Gln)
c.1026C>G (p.His342Gln)
c.195C>G (p.His65Gln)
12g.51915436C>TCA480063274ACVRL1c.714C>T (p.His238=)
c.984C>T (p.His328=)
c.462C>T (p.His154=)
c.1026C>T (p.His342=)
c.195C>T (p.His65=)
12g.51915437C>ACA384901446ACVRL1c.715C>A (p.Arg239Ser)
c.985C>A (p.Arg329Ser)
c.463C>A (p.Arg155Ser)
c.1027C>A (p.Arg343Ser)
c.196C>A (p.Arg66Ser)
12g.51915437C>GCA384901443ACVRL1c.715C>G (p.Arg239Gly)
c.985C>G (p.Arg329Gly)
c.463C>G (p.Arg155Gly)
c.1027C>G (p.Arg343Gly)
c.196C>G (p.Arg66Gly)
12g.51915437C>TCA384901438ACVRL1c.715C>T (p.Arg239Cys)
c.985C>T (p.Arg329Cys)
c.463C>T (p.Arg155Cys)
c.1027C>T (p.Arg343Cys)
c.196C>T (p.Arg66Cys)
 gnomAD v4 COSMIC COSMIC
12g.51915438G>ACA321832ACVRL1c.716G>A (p.Arg239His)
c.986G>A (p.Arg329His)
c.464G>A (p.Arg155His)
c.1028G>A (p.Arg343His)
c.197G>A (p.Arg66His)
 ClinVar dbSNP gnomAD v2
12g.51915438G>CCA384901448ACVRL1c.716G>C (p.Arg239Pro)
c.986G>C (p.Arg329Pro)
c.464G>C (p.Arg155Pro)
c.1028G>C (p.Arg343Pro)
c.197G>C (p.Arg66Pro)
12g.51915438G=CA2036269526ACVRL1c.716G= (p.Arg239=)
c.986G= (p.Arg329=)
c.464G= (p.Arg155=)
c.1028G= (p.Arg343=)
c.197G= (p.Arg66=)
12g.51915438G>TCA384901449ACVRL1c.716G>T (p.Arg239Leu)
c.986G>T (p.Arg329Leu)
c.464G>T (p.Arg155Leu)
c.1028G>T (p.Arg343Leu)
c.197G>T (p.Arg66Leu)
12g.51915439C>ACA480063275ACVRL1c.717C>A (p.Arg239=)
c.987C>A (p.Arg329=)
c.465C>A (p.Arg155=)
c.1029C>A (p.Arg343=)
c.198C>A (p.Arg66=)
12g.51915439C=CA2036269527ACVRL1c.717C= (p.Arg239=)
c.987C= (p.Arg329=)
c.465C= (p.Arg155=)
c.1029C= (p.Arg343=)
c.198C= (p.Arg66=)
12g.51915439C>GCA480063276ACVRL1c.717C>G (p.Arg239=)
c.987C>G (p.Arg329=)
c.465C>G (p.Arg155=)
c.1029C>G (p.Arg343=)
c.198C>G (p.Arg66=)
12g.51915439C>TCA6573031ACVRL1c.717C>T (p.Arg239=)
c.987C>T (p.Arg329=)
c.465C>T (p.Arg155=)
c.1029C>T (p.Arg343=)
c.198C>T (p.Arg66=)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915443_51915496delCA2695216750ACVRL1c.721_774del (p.Phe241_Asp258del)
c.991_1044del (p.Phe331_Asp348del)
c.469_522del (p.Phe157_Asp174del)
c.1033_1086del (p.Phe345_Asp362del)
c.202_255del (p.Phe68_Asp85del)
12g.51915440G>ACA384901451ACVRL1c.718G>A (p.Asp240Asn)
c.988G>A (p.Asp330Asn)
c.466G>A (p.Asp156Asn)
c.1030G>A (p.Asp344Asn)
c.199G>A (p.Asp67Asn)
 ClinVar
12g.51915440G>CCA384901452ACVRL1c.718G>C (p.Asp240His)
c.988G>C (p.Asp330His)
c.466G>C (p.Asp156His)
c.1030G>C (p.Asp344His)
c.199G>C (p.Asp67His)
 ClinVar
12g.51915440G>TCA384901457ACVRL1c.718G>T (p.Asp240Tyr)
c.988G>T (p.Asp330Tyr)
c.466G>T (p.Asp156Tyr)
c.1030G>T (p.Asp344Tyr)
c.199G>T (p.Asp67Tyr)
 ClinVar COSMIC COSMIC
12g.51915440_51915442delinsTGGCA2580086486ACVRL1c.718_720delinsTGG (p.Asp240Trp)
c.988_990delinsTGG (p.Asp330Trp)
c.466_468delinsTGG (p.Asp156Trp)
c.1030_1032delinsTGG (p.Asp344Trp)
c.199_201delinsTGG (p.Asp67Trp)
 ClinVar
12g.51915440_51915446dupCA2580086487ACVRL1c.718_724dup (p.Lys242ArgfsTer?)
c.988_994dup (p.Lys332ArgfsTer?)
c.466_472dup (p.Lys158ArgfsTer?)
c.1030_1036dup (p.Lys346ArgfsTer?)
c.199_205dup (p.Lys69ArgfsTer?)
 ClinVar
12g.51915441A=CA2036269528ACVRL1c.719A= (p.Asp240=)
c.989A= (p.Asp330=)
c.467A= (p.Asp156=)
c.1031A= (p.Asp344=)
c.200A= (p.Asp67=)
12g.51915441A>CCA384901461ACVRL1c.719A>C (p.Asp240Ala)
c.989A>C (p.Asp330Ala)
c.467A>C (p.Asp156Ala)
c.1031A>C (p.Asp344Ala)
c.200A>C (p.Asp67Ala)
12g.51915441A>GCA384901463ACVRL1c.719A>G (p.Asp240Gly)
c.989A>G (p.Asp330Gly)
c.467A>G (p.Asp156Gly)
c.1031A>G (p.Asp344Gly)
c.200A>G (p.Asp67Gly)
 dbSNP
12g.51915441A>TCA384901466ACVRL1c.719A>T (p.Asp240Val)
c.989A>T (p.Asp330Val)
c.467A>T (p.Asp156Val)
c.1031A>T (p.Asp344Val)
c.200A>T (p.Asp67Val)
12g.51915442C>ACA384901467ACVRL1c.720C>A (p.Asp240Glu)
c.990C>A (p.Asp330Glu)
c.468C>A (p.Asp156Glu)
c.1032C>A (p.Asp344Glu)
c.201C>A (p.Asp67Glu)
12g.51915442C=CA2036269529ACVRL1c.720C= (p.Asp240=)
c.990C= (p.Asp330=)
c.468C= (p.Asp156=)
c.1032C= (p.Asp344=)
c.201C= (p.Asp67=)
12g.51915442C>GCA384901468ACVRL1c.720C>G (p.Asp240Glu)
c.990C>G (p.Asp330Glu)
c.468C>G (p.Asp156Glu)
c.1032C>G (p.Asp344Glu)
c.201C>G (p.Asp67Glu)
 ClinVar
12g.51915442C>TCA480063277ACVRL1c.720C>T (p.Asp240=)
c.990C>T (p.Asp330=)
c.468C>T (p.Asp156=)
c.1032C>T (p.Asp344=)
c.201C>T (p.Asp67=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51915443T>ACA384901473ACVRL1c.721T>A (p.Phe241Ile)
c.991T>A (p.Phe331Ile)
c.469T>A (p.Phe157Ile)
c.1033T>A (p.Phe345Ile)
c.202T>A (p.Phe68Ile)
12g.51915443T>CCA384901471ACVRL1c.721T>C (p.Phe241Leu)
c.991T>C (p.Phe331Leu)
c.469T>C (p.Phe157Leu)
c.1033T>C (p.Phe345Leu)
c.202T>C (p.Phe68Leu)
12g.51915443T>GCA384901469ACVRL1c.721T>G (p.Phe241Val)
c.991T>G (p.Phe331Val)
c.469T>G (p.Phe157Val)
c.1033T>G (p.Phe345Val)
c.202T>G (p.Phe68Val)
12g.51915444T>ACA384901477ACVRL1c.722T>A (p.Phe241Tyr)
c.992T>A (p.Phe331Tyr)
c.470T>A (p.Phe157Tyr)
c.1034T>A (p.Phe345Tyr)
c.203T>A (p.Phe68Tyr)
 dbSNP gnomAD v2 gnomAD v4
12g.51915444T>CCA384901479ACVRL1c.722T>C (p.Phe241Ser)
c.992T>C (p.Phe331Ser)
c.470T>C (p.Phe157Ser)
c.1034T>C (p.Phe345Ser)
c.203T>C (p.Phe68Ser)
 ClinVar dbSNP
12g.51915444T>GCA384901481ACVRL1c.722T>G (p.Phe241Cys)
c.992T>G (p.Phe331Cys)
c.470T>G (p.Phe157Cys)
c.1034T>G (p.Phe345Cys)
c.203T>G (p.Phe68Cys)
12g.51915444T=CA2036269530ACVRL1c.722T= (p.Phe241=)
c.992T= (p.Phe331=)
c.470T= (p.Phe157=)
c.1034T= (p.Phe345=)
c.203T= (p.Phe68=)
12g.51915445C>ACA384901482ACVRL1c.723C>A (p.Phe241Leu)
c.993C>A (p.Phe331Leu)
c.471C>A (p.Phe157Leu)
c.1035C>A (p.Phe345Leu)
c.204C>A (p.Phe68Leu)
12g.51915445C=CA2036269531ACVRL1c.723C= (p.Phe241=)
c.993C= (p.Phe331=)
c.471C= (p.Phe157=)
c.1035C= (p.Phe345=)
c.204C= (p.Phe68=)
12g.51915445C>GCA384901483ACVRL1c.723C>G (p.Phe241Leu)
c.993C>G (p.Phe331Leu)
c.471C>G (p.Phe157Leu)
c.1035C>G (p.Phe345Leu)
c.204C>G (p.Phe68Leu)
12g.51915445C>TCA6573032ACVRL1c.723C>T (p.Phe241=)
c.993C>T (p.Phe331=)
c.471C>T (p.Phe157=)
c.1035C>T (p.Phe345=)
c.204C>T (p.Phe68=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915446A>CCA384901487ACVRL1c.724A>C (p.Lys242Gln)
c.994A>C (p.Lys332Gln)
c.472A>C (p.Lys158Gln)
c.1036A>C (p.Lys346Gln)
c.205A>C (p.Lys69Gln)
12g.51915446A>GCA384901484ACVRL1c.724A>G (p.Lys242Glu)
c.994A>G (p.Lys332Glu)
c.472A>G (p.Lys158Glu)
c.1036A>G (p.Lys346Glu)
c.205A>G (p.Lys69Glu)
 ClinVar dbSNP
12g.51915446A>TCA384901485ACVRL1c.724A>T (p.Lys242Ter)
c.994A>T (p.Lys332Ter)
c.472A>T (p.Lys158Ter)
c.1036A>T (p.Lys346Ter)
c.205A>T (p.Lys69Ter)
12g.51915447A>CCA384901488ACVRL1c.725A>C (p.Lys242Thr)
c.995A>C (p.Lys332Thr)
c.473A>C (p.Lys158Thr)
c.1037A>C (p.Lys346Thr)
c.206A>C (p.Lys69Thr)
12g.51915447A>GCA384901490ACVRL1c.725A>G (p.Lys242Arg)
c.995A>G (p.Lys332Arg)
c.473A>G (p.Lys158Arg)
c.1037A>G (p.Lys346Arg)
c.206A>G (p.Lys69Arg)
 ClinVar dbSNP
12g.51915447A>TCA384901499ACVRL1c.725A>T (p.Lys242Met)
c.995A>T (p.Lys332Met)
c.473A>T (p.Lys158Met)
c.1037A>T (p.Lys346Met)
c.206A>T (p.Lys69Met)
12g.51915448G>ACA480063278ACVRL1c.726G>A (p.Lys242=)
c.996G>A (p.Lys332=)
c.474G>A (p.Lys158=)
c.1038G>A (p.Lys346=)
c.1G>A
c.207G>A (p.Lys69=)
 gnomAD v4
12g.51915448G>CCA384901505ACVRL1c.726G>C (p.Lys242Asn)
c.996G>C (p.Lys332Asn)
c.474G>C (p.Lys158Asn)
c.1038G>C (p.Lys346Asn)
c.1G>C
c.207G>C (p.Lys69Asn)
12g.51915448G>TCA384901508ACVRL1c.726G>T (p.Lys242Asn)
c.996G>T (p.Lys332Asn)
c.474G>T (p.Lys158Asn)
c.1038G>T (p.Lys346Asn)
c.1G>T
c.207G>T (p.Lys69Asn)
12g.51915449A>CCA384901510ACVRL1c.727A>C (p.Ser243Arg)
c.997A>C (p.Ser333Arg)
c.475A>C (p.Ser159Arg)
c.1039A>C (p.Ser347Arg)
c.2A>C
c.208A>C (p.Ser70Arg)
12g.51915449A>GCA384901513ACVRL1c.727A>G (p.Ser243Gly)
c.997A>G (p.Ser333Gly)
c.475A>G (p.Ser159Gly)
c.1039A>G (p.Ser347Gly)
c.2A>G
c.208A>G (p.Ser70Gly)
12g.51915449A>TCA384901512ACVRL1c.727A>T (p.Ser243Cys)
c.997A>T (p.Ser333Cys)
c.475A>T (p.Ser159Cys)
c.1039A>T (p.Ser347Cys)
c.2A>T
c.208A>T (p.Ser70Cys)
 ClinVar dbSNP
12g.51915450G>ACA384901515ACVRL1c.728G>A (p.Ser243Asn)
c.998G>A (p.Ser333Asn)
c.476G>A (p.Ser159Asn)
c.1040G>A (p.Ser347Asn)
c.3G>A
c.209G>A (p.Ser70Asn)
12g.51915450G>CCA384901517ACVRL1c.728G>C (p.Ser243Thr)
c.998G>C (p.Ser333Thr)
c.476G>C (p.Ser159Thr)
c.1040G>C (p.Ser347Thr)
c.3G>C
c.209G>C (p.Ser70Thr)
12g.51915450G=CA2036269532ACVRL1c.728G= (p.Ser243=)
c.998G= (p.Ser333=)
c.476G= (p.Ser159=)
c.1040G= (p.Ser347=)
c.3G=
c.209G= (p.Ser70=)
12g.51915450G>TCA322708ACVRL1c.728G>T (p.Ser243Ile)
c.998G>T (p.Ser333Ile)
c.476G>T (p.Ser159Ile)
c.1040G>T (p.Ser347Ile)
c.3G>T
c.209G>T (p.Ser70Ile)
 ClinVar dbSNP
12g.51915451C>ACA384901522ACVRL1c.729C>A (p.Ser243Arg)
c.999C>A (p.Ser333Arg)
c.477C>A (p.Ser159Arg)
c.1041C>A (p.Ser347Arg)
c.4C>A
c.210C>A (p.Ser70Arg)
 ClinVar COSMIC
12g.51915451C=CA2036269533ACVRL1c.729C= (p.Ser243=)
c.999C= (p.Ser333=)
c.477C= (p.Ser159=)
c.1041C= (p.Ser347=)
c.4C=
c.210C= (p.Ser70=)
12g.51915451C>GCA384901524ACVRL1c.729C>G (p.Ser243Arg)
c.999C>G (p.Ser333Arg)
c.477C>G (p.Ser159Arg)
c.1041C>G (p.Ser347Arg)
c.4C>G
c.210C>G (p.Ser70Arg)
 ClinVar dbSNP
12g.51915451C>TCA480063279ACVRL1c.729C>T (p.Ser243=)
c.999C>T (p.Ser333=)
c.477C>T (p.Ser159=)
c.1041C>T (p.Ser347=)
c.4C>T
c.210C>T (p.Ser70=)
 dbSNP gnomAD v2 gnomAD v4
12g.51915452delCA2695216751ACVRL1c.730del (p.Arg244AlafsTer20)
c.1000del (p.Arg334AlafsTer20)
c.478del (p.Arg160AlafsTer20)
c.1042del (p.Arg348AlafsTer20)
c.5del
c.211del (p.Arg71AlafsTer20)
12g.51915452C>ACA384901536ACVRL1c.730C>A (p.Arg244Ser)
c.1000C>A (p.Arg334Ser)
c.478C>A (p.Arg160Ser)
c.1042C>A (p.Arg348Ser)
c.5C>A
c.211C>A (p.Arg71Ser)
12g.51915452C=CA2036269534ACVRL1c.730C= (p.Arg244=)
c.1000C= (p.Arg334=)
c.478C= (p.Arg160=)
c.1042C= (p.Arg348=)
c.5C=
c.211C= (p.Arg71=)
12g.51915452C>GCA384901537ACVRL1c.730C>G (p.Arg244Gly)
c.1000C>G (p.Arg334Gly)
c.478C>G (p.Arg160Gly)
c.1042C>G (p.Arg348Gly)
c.5C>G
c.211C>G (p.Arg71Gly)
12g.51915452C>TCA236364179ACVRL1c.730C>T (p.Arg244Cys)
c.1000C>T (p.Arg334Cys)
c.478C>T (p.Arg160Cys)
c.1042C>T (p.Arg348Cys)
c.5C>T
c.211C>T (p.Arg71Cys)
 dbSNP gnomAD v2 gnomAD v4
12g.51915452_51915457delinsGCA2695216752ACVRL1c.730_735delinsG (p.Arg244GlyfsTer?)
c.1000_1005delinsG (p.Arg334GlyfsTer?)
c.478_483delinsG (p.Arg160GlyfsTer?)
c.1042_1047delinsG (p.Arg348GlyfsTer?)
c.5_10delinsG
c.211_216delinsG (p.Arg71GlyfsTer?)
12g.51915453G>ACA384901543ACVRL1c.731G>A (p.Arg244His)
c.1001G>A (p.Arg334His)
c.479G>A (p.Arg160His)
c.1043G>A (p.Arg348His)
c.6G>A
c.212G>A (p.Arg71His)
 dbSNP gnomAD v4
12g.51915453G>CCA384901571ACVRL1c.731G>C (p.Arg244Pro)
c.1001G>C (p.Arg334Pro)
c.479G>C (p.Arg160Pro)
c.1043G>C (p.Arg348Pro)
c.6G>C
c.212G>C (p.Arg71Pro)
12g.51915453G=CA2036269535ACVRL1c.731G= (p.Arg244=)
c.1001G= (p.Arg334=)
c.479G= (p.Arg160=)
c.1043G= (p.Arg348=)
c.6G=
c.212G= (p.Arg71=)
12g.51915453G>TCA384901577ACVRL1c.731G>T (p.Arg244Leu)
c.1001G>T (p.Arg334Leu)
c.479G>T (p.Arg160Leu)
c.1043G>T (p.Arg348Leu)
c.6G>T
c.212G>T (p.Arg71Leu)
12g.51915454C>ACA480063280ACVRL1c.732C>A (p.Arg244=)
c.1002C>A (p.Arg334=)
c.480C>A (p.Arg160=)
c.1044C>A (p.Arg348=)
c.7C>A
c.213C>A (p.Arg71=)
12g.51915454C>GCA480063281ACVRL1c.732C>G (p.Arg244=)
c.1002C>G (p.Arg334=)
c.480C>G (p.Arg160=)
c.1044C>G (p.Arg348=)
c.7C>G
c.213C>G (p.Arg71=)
12g.51915454C>TCA480063282ACVRL1c.732C>T (p.Arg244=)
c.1002C>T (p.Arg334=)
c.480C>T (p.Arg160=)
c.1044C>T (p.Arg348=)
c.7C>T
c.213C>T (p.Arg71=)
12g.51915455A>CCA384901587ACVRL1c.733A>C (p.Asn245His)
c.1003A>C (p.Asn335His)
c.481A>C (p.Asn161His)
c.1045A>C (p.Asn349His)
c.8A>C
c.214A>C (p.Asn72His)
 ClinVar dbSNP
12g.51915455A>GCA384901588ACVRL1c.733A>G (p.Asn245Asp)
c.1003A>G (p.Asn335Asp)
c.481A>G (p.Asn161Asp)
c.1045A>G (p.Asn349Asp)
c.8A>G
c.214A>G (p.Asn72Asp)
12g.51915455A>TCA384901583ACVRL1c.733A>T (p.Asn245Tyr)
c.1003A>T (p.Asn335Tyr)
c.481A>T (p.Asn161Tyr)
c.1045A>T (p.Asn349Tyr)
c.8A>T
c.214A>T (p.Asn72Tyr)
12g.51915456A=CA2036269536ACVRL1c.734A= (p.Asn245=)
c.1004A= (p.Asn335=)
c.482A= (p.Asn161=)
c.1046A= (p.Asn349=)
c.9A=
c.215A= (p.Asn72=)
12g.51915456A>CCA384901593ACVRL1c.734A>C (p.Asn245Thr)
c.1004A>C (p.Asn335Thr)
c.482A>C (p.Asn161Thr)
c.1046A>C (p.Asn349Thr)
c.9A>C
c.215A>C (p.Asn72Thr)
12g.51915456A>GCA384901591ACVRL1c.734A>G (p.Asn245Ser)
c.1004A>G (p.Asn335Ser)
c.482A>G (p.Asn161Ser)
c.1046A>G (p.Asn349Ser)
c.9A>G
c.215A>G (p.Asn72Ser)
 ClinVar dbSNP gnomAD v4
12g.51915456A>TCA16614166ACVRL1c.734A>T (p.Asn245Ile)
c.1004A>T (p.Asn335Ile)
c.482A>T (p.Asn161Ile)
c.1046A>T (p.Asn349Ile)
c.9A>T
c.215A>T (p.Asn72Ile)
 ClinVar dbSNP
12g.51915457T>ACA384901598ACVRL1c.735T>A (p.Asn245Lys)
c.1005T>A (p.Asn335Lys)
c.483T>A (p.Asn161Lys)
c.1047T>A (p.Asn349Lys)
c.10T>A
c.216T>A (p.Asn72Lys)
12g.51915457T>CCA480063283ACVRL1c.735T>C (p.Asn245=)
c.1005T>C (p.Asn335=)
c.483T>C (p.Asn161=)
c.1047T>C (p.Asn349=)
c.10T>C
c.216T>C (p.Asn72=)
 ClinVar dbSNP gnomAD v4
12g.51915457T>GCA384901601ACVRL1c.735T>G (p.Asn245Lys)
c.1005T>G (p.Asn335Lys)
c.483T>G (p.Asn161Lys)
c.1047T>G (p.Asn349Lys)
c.10T>G
c.216T>G (p.Asn72Lys)
12g.51915457T=CA2036269537ACVRL1c.735T= (p.Asn245=)
c.1005T= (p.Asn335=)
c.483T= (p.Asn161=)
c.1047T= (p.Asn349=)
c.10T=
c.216T= (p.Asn72=)
12g.51915458G>ACA384901606ACVRL1c.736G>A (p.Val246Met)
c.1006G>A (p.Val336Met)
c.484G>A (p.Val162Met)
c.1048G>A (p.Val350Met)
c.11G>A
c.217G>A (p.Val73Met)
 COSMIC COSMIC
12g.51915458G>CCA384901608ACVRL1c.736G>C (p.Val246Leu)
c.1006G>C (p.Val336Leu)
c.484G>C (p.Val162Leu)
c.1048G>C (p.Val350Leu)
c.11G>C
c.217G>C (p.Val73Leu)
12g.51915458G>TCA384901610ACVRL1c.736G>T (p.Val246Leu)
c.1006G>T (p.Val336Leu)
c.484G>T (p.Val162Leu)
c.1048G>T (p.Val350Leu)
c.11G>T
c.217G>T (p.Val73Leu)
12g.51915459T>ACA384901612ACVRL1c.737T>A (p.Val246Glu)
c.1007T>A (p.Val336Glu)
c.485T>A (p.Val162Glu)
c.1049T>A (p.Val350Glu)
c.12T>A
c.218T>A (p.Val73Glu)
 ClinVar dbSNP
12g.51915459T>CCA384901614ACVRL1c.737T>C (p.Val246Ala)
c.1007T>C (p.Val336Ala)
c.485T>C (p.Val162Ala)
c.1049T>C (p.Val350Ala)
c.12T>C
c.218T>C (p.Val73Ala)
12g.51915459T>GCA384901615ACVRL1c.737T>G (p.Val246Gly)
c.1007T>G (p.Val336Gly)
c.485T>G (p.Val162Gly)
c.1049T>G (p.Val350Gly)
c.12T>G
c.218T>G (p.Val73Gly)
12g.51915459T=CA2036269538ACVRL1c.737T= (p.Val246=)
c.1007T= (p.Val336=)
c.485T= (p.Val162=)
c.1049T= (p.Val350=)
c.12T=
c.218T= (p.Val73=)
12g.51915460G>ACA480063284ACVRL1c.738G>A (p.Val246=)
c.1008G>A (p.Val336=)
c.486G>A (p.Val162=)
c.1050G>A (p.Val350=)
c.13G>A
c.219G>A (p.Val73=)
12g.51915460G>CCA480063285ACVRL1c.738G>C (p.Val246=)
c.1008G>C (p.Val336=)
c.486G>C (p.Val162=)
c.1050G>C (p.Val350=)
c.13G>C
c.219G>C (p.Val73=)
12g.51915460G>TCA480063286ACVRL1c.738G>T (p.Val246=)
c.1008G>T (p.Val336=)
c.486G>T (p.Val162=)
c.1050G>T (p.Val350=)
c.13G>T
c.219G>T (p.Val73=)
 gnomAD v4
12g.51915460_51915461delCA2697554494ACVRL1c.738_739del (p.Leu247GlyfsTer?)
c.1008_1009del (p.Leu337GlyfsTer?)
c.486_487del (p.Leu163GlyfsTer?)
c.1050_1051del (p.Leu351GlyfsTer?)
c.13_14del
c.219_220del (p.Leu74GlyfsTer?)
 ClinVar
12g.51915461C>ACA384901617ACVRL1c.739C>A (p.Leu247Met)
c.1009C>A (p.Leu337Met)
c.487C>A (p.Leu163Met)
c.1051C>A (p.Leu351Met)
c.14C>A
c.220C>A (p.Leu74Met)
 dbSNP gnomAD v2
12g.51915461C=CA2036269539ACVRL1c.739C= (p.Leu247=)
c.1009C= (p.Leu337=)
c.487C= (p.Leu163=)
c.1051C= (p.Leu351=)
c.14C=
c.220C= (p.Leu74=)
12g.51915461C>GCA384901618ACVRL1c.739C>G (p.Leu247Val)
c.1009C>G (p.Leu337Val)
c.487C>G (p.Leu163Val)
c.1051C>G (p.Leu351Val)
c.14C>G
c.220C>G (p.Leu74Val)
12g.51915461C>TCA480063287ACVRL1c.739C>T (p.Leu247=)
c.1009C>T (p.Leu337=)
c.487C>T (p.Leu163=)
c.1051C>T (p.Leu351=)
c.14C>T
c.220C>T (p.Leu74=)
12g.51915462delCA2499221748ACVRL1c.740del (p.Leu247ArgfsTer17)
c.1010del (p.Leu337ArgfsTer17)
c.488del (p.Leu163ArgfsTer17)
c.1052del (p.Leu351ArgfsTer17)
c.15del
c.221del (p.Leu74ArgfsTer17)
 ClinVar dbSNP
12g.51915462T>ACA384901621ACVRL1c.740T>A (p.Leu247Gln)
c.1010T>A (p.Leu337Gln)
c.488T>A (p.Leu163Gln)
c.1052T>A (p.Leu351Gln)
c.15T>A
c.221T>A (p.Leu74Gln)
12g.51915462T>CCA384901627ACVRL1c.740T>C (p.Leu247Pro)
c.1010T>C (p.Leu337Pro)
c.488T>C (p.Leu163Pro)
c.1052T>C (p.Leu351Pro)
c.15T>C
c.221T>C (p.Leu74Pro)
 ClinVar dbSNP
12g.51915462T>GCA384901628ACVRL1c.740T>G (p.Leu247Arg)
c.1010T>G (p.Leu337Arg)
c.488T>G (p.Leu163Arg)
c.1052T>G (p.Leu351Arg)
c.15T>G
c.221T>G (p.Leu74Arg)
 ClinVar
12g.51915462T=CA2036269540ACVRL1c.740T= (p.Leu247=)
c.1010T= (p.Leu337=)
c.488T= (p.Leu163=)
c.1052T= (p.Leu351=)
c.15T=
c.221T= (p.Leu74=)
12g.51915463G>ACA236364185ACVRL1c.741G>A (p.Leu247=)
c.1011G>A (p.Leu337=)
c.489G>A (p.Leu163=)
c.1053G>A (p.Leu351=)
c.16G>A
c.222G>A (p.Leu74=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
12g.51915463G>CCA480063288ACVRL1c.741G>C (p.Leu247=)
c.1011G>C (p.Leu337=)
c.489G>C (p.Leu163=)
c.1053G>C (p.Leu351=)
c.16G>C
c.222G>C (p.Leu74=)
12g.51915463G=CA2036269541ACVRL1c.741G= (p.Leu247=)
c.1011G= (p.Leu337=)
c.489G= (p.Leu163=)
c.1053G= (p.Leu351=)
c.16G=
c.222G= (p.Leu74=)
12g.51915463G>TCA480063289ACVRL1c.741G>T (p.Leu247=)
c.1011G>T (p.Leu337=)
c.489G>T (p.Leu163=)
c.1053G>T (p.Leu351=)
c.16G>T
c.222G>T (p.Leu74=)
12g.51915464G>ACA384901633ACVRL1c.742G>A (p.Val248Ile)
c.1012G>A (p.Val338Ile)
c.490G>A (p.Val164Ile)
c.1054G>A (p.Val352Ile)
c.17G>A
c.223G>A (p.Val75Ile)
12g.51915464G>CCA384901637ACVRL1c.742G>C (p.Val248Leu)
c.1012G>C (p.Val338Leu)
c.490G>C (p.Val164Leu)
c.1054G>C (p.Val352Leu)
c.17G>C
c.223G>C (p.Val75Leu)
12g.51915464G>TCA384901639ACVRL1c.742G>T (p.Val248Phe)
c.1012G>T (p.Val338Phe)
c.490G>T (p.Val164Phe)
c.1054G>T (p.Val352Phe)
c.17G>T
c.223G>T (p.Val75Phe)
 ClinVar
12g.51915465T>ACA384901640ACVRL1c.743T>A (p.Val248Asp)
c.1013T>A (p.Val338Asp)
c.491T>A (p.Val164Asp)
c.1055T>A (p.Val352Asp)
c.18T>A
c.224T>A (p.Val75Asp)
12g.51915465T>CCA384901643ACVRL1c.743T>C (p.Val248Ala)
c.1013T>C (p.Val338Ala)
c.491T>C (p.Val164Ala)
c.1055T>C (p.Val352Ala)
c.18T>C
c.224T>C (p.Val75Ala)
12g.51915465T>GCA384901651ACVRL1c.743T>G (p.Val248Gly)
c.1013T>G (p.Val338Gly)
c.491T>G (p.Val164Gly)
c.1055T>G (p.Val352Gly)
c.18T>G
c.224T>G (p.Val75Gly)
 ClinVar dbSNP
12g.51915465T=CA2036269542ACVRL1c.743T= (p.Val248=)
c.1013T= (p.Val338=)
c.491T= (p.Val164=)
c.1055T= (p.Val352=)
c.18T=
c.224T= (p.Val75=)
12g.51915466C>ACA480063290ACVRL1c.744C>A (p.Val248=)
c.1014C>A (p.Val338=)
c.492C>A (p.Val164=)
c.1056C>A (p.Val352=)
c.19C>A
c.225C>A (p.Val75=)
 gnomAD v4
12g.51915466C=CA2036269543ACVRL1c.744C= (p.Val248=)
c.1014C= (p.Val338=)
c.492C= (p.Val164=)
c.1056C= (p.Val352=)
c.19C=
c.225C= (p.Val75=)
12g.51915466C>GCA480063291ACVRL1c.744C>G (p.Val248=)
c.1014C>G (p.Val338=)
c.492C>G (p.Val164=)
c.1056C>G (p.Val352=)
c.19C>G
c.225C>G (p.Val75=)
12g.51915466C>TCA480063292ACVRL1c.744C>T (p.Val248=)
c.1014C>T (p.Val338=)
c.492C>T (p.Val164=)
c.1056C>T (p.Val352=)
c.19C>T
c.225C>T (p.Val75=)
 ClinVar dbSNP gnomAD v4
12g.51915467A=CA2036269544ACVRL1c.745A= (p.Lys249=)
c.1015A= (p.Lys339=)
c.493A= (p.Lys165=)
c.1057A= (p.Lys353=)
c.20A=
c.226A= (p.Lys76=)
12g.51915467A>CCA384901652ACVRL1c.745A>C (p.Lys249Gln)
c.1015A>C (p.Lys339Gln)
c.493A>C (p.Lys165Gln)
c.1057A>C (p.Lys353Gln)
c.20A>C
c.226A>C (p.Lys76Gln)
12g.51915467A>GCA384901653ACVRL1c.745A>G (p.Lys249Glu)
c.1015A>G (p.Lys339Glu)
c.493A>G (p.Lys165Glu)
c.1057A>G (p.Lys353Glu)
c.20A>G
c.226A>G (p.Lys76Glu)
12g.51915467A>TCA384901655ACVRL1c.745A>T (p.Lys249Ter)
c.1015A>T (p.Lys339Ter)
c.493A>T (p.Lys165Ter)
c.1057A>T (p.Lys353Ter)
c.20A>T
c.226A>T (p.Lys76Ter)
 ClinVar dbSNP
12g.51915468A=CA2036269545ACVRL1c.746A= (p.Lys249=)
c.1016A= (p.Lys339=)
c.494A= (p.Lys165=)
c.1058A= (p.Lys353=)
c.21A=
c.227A= (p.Lys76=)
12g.51915468A>CCA384901658ACVRL1c.746A>C (p.Lys249Thr)
c.1016A>C (p.Lys339Thr)
c.494A>C (p.Lys165Thr)
c.1058A>C (p.Lys353Thr)
c.21A>C
c.227A>C (p.Lys76Thr)
12g.51915468A>GCA384901659ACVRL1c.746A>G (p.Lys249Arg)
c.1016A>G (p.Lys339Arg)
c.494A>G (p.Lys165Arg)
c.1058A>G (p.Lys353Arg)
c.21A>G
c.227A>G (p.Lys76Arg)
 dbSNP gnomAD v2
12g.51915468A>TCA384901662ACVRL1c.746A>T (p.Lys249Met)
c.1016A>T (p.Lys339Met)
c.494A>T (p.Lys165Met)
c.1058A>T (p.Lys353Met)
c.21A>T
c.227A>T (p.Lys76Met)
12g.51915469G>ACA480063293ACVRL1c.747G>A (p.Lys249=)
c.1017G>A (p.Lys339=)
c.495G>A (p.Lys165=)
c.1059G>A (p.Lys353=)
c.22G>A
c.228G>A (p.Lys76=)
 gnomAD v4
12g.51915469G>CCA236364199ACVRL1c.747G>C (p.Lys249Asn)
c.1017G>C (p.Lys339Asn)
c.495G>C (p.Lys165Asn)
c.1059G>C (p.Lys353Asn)
c.22G>C
c.228G>C (p.Lys76Asn)
 dbSNP
12g.51915469G=CA2036269546ACVRL1c.747G= (p.Lys249=)
c.1017G= (p.Lys339=)
c.495G= (p.Lys165=)
c.1059G= (p.Lys353=)
c.22G=
c.228G= (p.Lys76=)
12g.51915469G>TCA384901665ACVRL1c.747G>T (p.Lys249Asn)
c.1017G>T (p.Lys339Asn)
c.495G>T (p.Lys165Asn)
c.1059G>T (p.Lys353Asn)
c.22G>T
c.228G>T (p.Lys76Asn)
 gnomAD v4
12g.51915470A=CA2036269547ACVRL1c.748A= (p.Ser250=)
c.1018A= (p.Ser340=)
c.496A= (p.Ser166=)
c.1060A= (p.Ser354=)
c.23A=
c.229A= (p.Ser77=)
12g.51915470A>CCA384901668ACVRL1c.748A>C (p.Ser250Arg)
c.1018A>C (p.Ser340Arg)
c.496A>C (p.Ser166Arg)
c.1060A>C (p.Ser354Arg)
c.23A>C
c.229A>C (p.Ser77Arg)
12g.51915470A>GCA384901674ACVRL1c.748A>G (p.Ser250Gly)
c.1018A>G (p.Ser340Gly)
c.496A>G (p.Ser166Gly)
c.1060A>G (p.Ser354Gly)
c.23A>G
c.229A>G (p.Ser77Gly)
 dbSNP gnomAD v2 gnomAD v4
12g.51915470A>TCA384901672ACVRL1c.748A>T (p.Ser250Cys)
c.1018A>T (p.Ser340Cys)
c.496A>T (p.Ser166Cys)
c.1060A>T (p.Ser354Cys)
c.23A>T
c.229A>T (p.Ser77Cys)
12g.51915471G>ACA384901675ACVRL1c.749G>A (p.Ser250Asn)
c.1019G>A (p.Ser340Asn)
c.497G>A (p.Ser166Asn)
c.1061G>A (p.Ser354Asn)
c.24G>A
c.230G>A (p.Ser77Asn)
12g.51915471G>CCA384901677ACVRL1c.749G>C (p.Ser250Thr)
c.1019G>C (p.Ser340Thr)
c.497G>C (p.Ser166Thr)
c.1061G>C (p.Ser354Thr)
c.24G>C
c.230G>C (p.Ser77Thr)
12g.51915471G>TCA384901679ACVRL1c.749G>T (p.Ser250Ile)
c.1019G>T (p.Ser340Ile)
c.497G>T (p.Ser166Ile)
c.1061G>T (p.Ser354Ile)
c.24G>T
c.230G>T (p.Ser77Ile)
12g.51915472C>ACA384901680ACVRL1c.750C>A (p.Ser250Arg)
c.1020C>A (p.Ser340Arg)
c.498C>A (p.Ser166Arg)
c.1062C>A (p.Ser354Arg)
c.25C>A
c.231C>A (p.Ser77Arg)
12g.51915472C>GCA384901682ACVRL1c.750C>G (p.Ser250Arg)
c.1020C>G (p.Ser340Arg)
c.498C>G (p.Ser166Arg)
c.1062C>G (p.Ser354Arg)
c.25C>G
c.231C>G (p.Ser77Arg)
12g.51915472C>TCA480063294ACVRL1c.750C>T (p.Ser250=)
c.1020C>T (p.Ser340=)
c.498C>T (p.Ser166=)
c.1062C>T (p.Ser354=)
c.25C>T
c.231C>T (p.Ser77=)
 gnomAD v4
12g.51915473A>CCA384901687ACVRL1c.751A>C (p.Asn251His)
c.1021A>C (p.Asn341His)
c.499A>C (p.Asn167His)
c.1063A>C (p.Asn355His)
c.26A>C
c.232A>C (p.Asn78His)
12g.51915473A>GCA384901689ACVRL1c.751A>G (p.Asn251Asp)
c.1021A>G (p.Asn341Asp)
c.499A>G (p.Asn167Asp)
c.1063A>G (p.Asn355Asp)
c.26A>G
c.232A>G (p.Asn78Asp)
12g.51915473A>TCA384901691ACVRL1c.751A>T (p.Asn251Tyr)
c.1021A>T (p.Asn341Tyr)
c.499A>T (p.Asn167Tyr)
c.1063A>T (p.Asn355Tyr)
c.26A>T
c.232A>T (p.Asn78Tyr)
 gnomAD v4
12g.51915473_51915494delinsAACCTGCAGTGTTGCATCGCCGCA2036269548ACVRL1c.751_772delinsAACCTGCAGTGTTGCATCGCCG (p.Asn251=)
c.1021_1042delinsAACCTGCAGTGTTGCATCGCCG (p.Asn341=)
c.499_520delinsAACCTGCAGTGTTGCATCGCCG (p.Asn167=)
c.1063_1084delinsAACCTGCAGTGTTGCATCGCCG (p.Asn355=)
c.26_47delinsAACCTGCAGTGTTGCATCGCCG
c.232_253delinsAACCTGCAGTGTTGCATCGCCG (p.Asn78=)
12g.51915474A=CA2036269549ACVRL1c.752A= (p.Asn251=)
c.1022A= (p.Asn341=)
c.500A= (p.Asn167=)
c.1064A= (p.Asn355=)
c.27A=
c.233A= (p.Asn78=)
12g.51915474A>CCA384901695ACVRL1c.752A>C (p.Asn251Thr)
c.1022A>C (p.Asn341Thr)
c.500A>C (p.Asn167Thr)
c.1064A>C (p.Asn355Thr)
c.27A>C
c.233A>C (p.Asn78Thr)
12g.51915474A>GCA6573033ACVRL1c.752A>G (p.Asn251Ser)
c.1022A>G (p.Asn341Ser)
c.500A>G (p.Asn167Ser)
c.1064A>G (p.Asn355Ser)
c.27A>G
c.233A>G (p.Asn78Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915474A>TCA384901700ACVRL1c.752A>T (p.Asn251Ile)
c.1022A>T (p.Asn341Ile)
c.500A>T (p.Asn167Ile)
c.1064A>T (p.Asn355Ile)
c.27A>T
c.233A>T (p.Asn78Ile)
12g.51915479_51915499delCA915948525ACVRL1c.757_777del (p.Gln253_Leu259del)
c.1027_1047del (p.Gln343_Leu349del)
c.505_525del (p.Gln169_Leu175del)
c.1069_1089del (p.Gln357_Leu363del)
c.32_52del
c.238_258del (p.Gln80_Leu86del)
 ClinVar dbSNP
12g.51915475C>ACA384901701ACVRL1c.753C>A (p.Asn251Lys)
c.1023C>A (p.Asn341Lys)
c.501C>A (p.Asn167Lys)
c.1065C>A (p.Asn355Lys)
c.28C>A
c.234C>A (p.Asn78Lys)
12g.51915475C>GCA384901702ACVRL1c.753C>G (p.Asn251Lys)
c.1023C>G (p.Asn341Lys)
c.501C>G (p.Asn167Lys)
c.1065C>G (p.Asn355Lys)
c.28C>G
c.234C>G (p.Asn78Lys)
 ClinVar
12g.51915475C>TCA480063295ACVRL1c.753C>T (p.Asn251=)
c.1023C>T (p.Asn341=)
c.501C>T (p.Asn167=)
c.1065C>T (p.Asn355=)
c.28C>T
c.234C>T (p.Asn78=)
12g.51915476C>ACA384901704ACVRL1c.754C>A (p.Leu252Met)
c.1024C>A (p.Leu342Met)
c.502C>A (p.Leu168Met)
c.1066C>A (p.Leu356Met)
c.29C>A
c.235C>A (p.Leu79Met)
12g.51915476C=CA2036269550ACVRL1c.754C= (p.Leu252=)
c.1024C= (p.Leu342=)
c.502C= (p.Leu168=)
c.1066C= (p.Leu356=)
c.29C=
c.235C= (p.Leu79=)
12g.51915476C>GCA384901703ACVRL1c.754C>G (p.Leu252Val)
c.1024C>G (p.Leu342Val)
c.502C>G (p.Leu168Val)
c.1066C>G (p.Leu356Val)
c.29C>G
c.235C>G (p.Leu79Val)
12g.51915476C>TCA6573034ACVRL1c.754C>T (p.Leu252=)
c.1024C>T (p.Leu342=)
c.502C>T (p.Leu168=)
c.1066C>T (p.Leu356=)
c.29C>T
c.235C>T (p.Leu79=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915477T>ACA384901709ACVRL1c.755T>A (p.Leu252Gln)
c.1025T>A (p.Leu342Gln)
c.503T>A (p.Leu168Gln)
c.1067T>A (p.Leu356Gln)
c.30T>A
c.236T>A (p.Leu79Gln)
12g.51915477T>CCA384901711ACVRL1c.755T>C (p.Leu252Pro)
c.1025T>C (p.Leu342Pro)
c.503T>C (p.Leu168Pro)
c.1067T>C (p.Leu356Pro)
c.30T>C
c.236T>C (p.Leu79Pro)
 ClinVar dbSNP
12g.51915477T>GCA6573035ACVRL1c.755T>G (p.Leu252Arg)
c.1025T>G (p.Leu342Arg)
c.503T>G (p.Leu168Arg)
c.1067T>G (p.Leu356Arg)
c.30T>G
c.236T>G (p.Leu79Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915477T=CA2036269552ACVRL1c.755T= (p.Leu252=)
c.1025T= (p.Leu342=)
c.503T= (p.Leu168=)
c.1067T= (p.Leu356=)
c.30T=
c.236T= (p.Leu79=)
12g.51915477_51915514delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGGCA2036269551ACVRL1c.755_778+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
c.1025_1048+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
c.503_526+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
c.1067_1090+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
c.30_53+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
c.236_259+14delinsTGCAGTGTTGCATCGCCGACCTGGGTGAGCCGGGCGGG
12g.51915478G>ACA480063298ACVRL1c.756G>A (p.Leu252=)
c.1026G>A (p.Leu342=)
c.504G>A (p.Leu168=)
c.1068G>A (p.Leu356=)
c.31G>A
c.237G>A (p.Leu79=)
12g.51915478G>CCA480063297ACVRL1c.756G>C (p.Leu252=)
c.1026G>C (p.Leu342=)
c.504G>C (p.Leu168=)
c.1068G>C (p.Leu356=)
c.31G>C
c.237G>C (p.Leu79=)
12g.51915478G>TCA480063296ACVRL1c.756G>T (p.Leu252=)
c.1026G>T (p.Leu342=)
c.504G>T (p.Leu168=)
c.1068G>T (p.Leu356=)
c.31G>T
c.237G>T (p.Leu79=)
12g.51915482_51915518delCA916081669ACVRL1c.760_778+18del
c.1030_1048+18del
c.508_526+18del
c.1072_1090+18del
c.35_53+18del
c.241_259+18del
 ClinVar dbSNP
12g.51915479C>ACA384901714ACVRL1c.757C>A (p.Gln253Lys)
c.1027C>A (p.Gln343Lys)
c.505C>A (p.Gln169Lys)
c.1069C>A (p.Gln357Lys)
c.32C>A
c.238C>A (p.Gln80Lys)
12g.51915479C=CA2036269553ACVRL1c.757C= (p.Gln253=)
c.1027C= (p.Gln343=)
c.505C= (p.Gln169=)
c.1069C= (p.Gln357=)
c.32C=
c.238C= (p.Gln80=)
12g.51915479C>GCA384901718ACVRL1c.757C>G (p.Gln253Glu)
c.1027C>G (p.Gln343Glu)
c.505C>G (p.Gln169Glu)
c.1069C>G (p.Gln357Glu)
c.32C>G
c.238C>G (p.Gln80Glu)
 gnomAD v4
12g.51915479C>TCA16619570ACVRL1c.757C>T (p.Gln253Ter)
c.1027C>T (p.Gln343Ter)
c.505C>T (p.Gln169Ter)
c.1069C>T (p.Gln357Ter)
c.32C>T
c.238C>T (p.Gln80Ter)
 ClinVar dbSNP
12g.51915480A=CA2036269554ACVRL1c.758A= (p.Gln253=)
c.1028A= (p.Gln343=)
c.506A= (p.Gln169=)
c.1070A= (p.Gln357=)
c.33A=
c.239A= (p.Gln80=)
12g.51915480A>CCA384901720ACVRL1c.758A>C (p.Gln253Pro)
c.1028A>C (p.Gln343Pro)
c.506A>C (p.Gln169Pro)
c.1070A>C (p.Gln357Pro)
c.33A>C
c.239A>C (p.Gln80Pro)
 ClinVar dbSNP
12g.51915480A>GCA384901721ACVRL1c.758A>G (p.Gln253Arg)
c.1028A>G (p.Gln343Arg)
c.506A>G (p.Gln169Arg)
c.1070A>G (p.Gln357Arg)
c.33A>G
c.239A>G (p.Gln80Arg)
 gnomAD v4
12g.51915480A>TCA384901722ACVRL1c.758A>T (p.Gln253Leu)
c.1028A>T (p.Gln343Leu)
c.506A>T (p.Gln169Leu)
c.1070A>T (p.Gln357Leu)
c.33A>T
c.239A>T (p.Gln80Leu)
12g.51915481G>ACA480063299ACVRL1c.759G>A (p.Gln253=)
c.1029G>A (p.Gln343=)
c.507G>A (p.Gln169=)
c.1071G>A (p.Gln357=)
c.34G>A
c.240G>A (p.Gln80=)
 dbSNP gnomAD v2
12g.51915481G>CCA384901724ACVRL1c.759G>C (p.Gln253His)
c.1029G>C (p.Gln343His)
c.507G>C (p.Gln169His)
c.1071G>C (p.Gln357His)
c.34G>C
c.240G>C (p.Gln80His)
12g.51915481G=CA2036236209ACVRL1c.759G= (p.Gln253=)
c.1029G= (p.Gln343=)
c.507G= (p.Gln169=)
c.1071G= (p.Gln357=)
c.34G=
c.240G= (p.Gln80=)
12g.51915481G>TCA384901725ACVRL1c.759G>T (p.Gln253His)
c.1029G>T (p.Gln343His)
c.507G>T (p.Gln169His)
c.1071G>T (p.Gln357His)
c.34G>T
c.240G>T (p.Gln80His)
12g.51915483_51915484dupCA323690ACVRL1c.761_762dup (p.Cys255ValfsTer10)
c.1031_1032dup (p.Cys345ValfsTer10)
c.509_510dup (p.Cys171ValfsTer10)
c.1073_1074dup (p.Cys359ValfsTer10)
c.36_37dup
c.242_243dup (p.Cys82ValfsTer10)
 ClinVar dbSNP
12g.51915482T>ACA384901733ACVRL1c.760T>A (p.Cys254Ser)
c.1030T>A (p.Cys344Ser)
c.508T>A (p.Cys170Ser)
c.1072T>A (p.Cys358Ser)
c.35T>A
c.241T>A (p.Cys81Ser)
12g.51915482T>CCA384901730ACVRL1c.760T>C (p.Cys254Arg)
c.1030T>C (p.Cys344Arg)
c.508T>C (p.Cys170Arg)
c.1072T>C (p.Cys358Arg)
c.35T>C
c.241T>C (p.Cys81Arg)
 ClinVar dbSNP
12g.51915482T>GCA384901736ACVRL1c.760T>G (p.Cys254Gly)
c.1030T>G (p.Cys344Gly)
c.508T>G (p.Cys170Gly)
c.1072T>G (p.Cys358Gly)
c.35T>G
c.241T>G (p.Cys81Gly)
12g.51915482T=CA2036236221ACVRL1c.760T= (p.Cys254=)
c.1030T= (p.Cys344=)
c.508T= (p.Cys170=)
c.1072T= (p.Cys358=)
c.35T=
c.241T= (p.Cys81=)
12g.51915483G>ACA119408ACVRL1c.761G>A (p.Cys254Tyr)
c.1031G>A (p.Cys344Tyr)
c.509G>A (p.Cys170Tyr)
c.1073G>A (p.Cys358Tyr)
c.36G>A
c.242G>A (p.Cys81Tyr)
 ClinVar dbSNP gnomAD v4
12g.51915483G>CCA384901739ACVRL1c.761G>C (p.Cys254Ser)
c.1031G>C (p.Cys344Ser)
c.509G>C (p.Cys170Ser)
c.1073G>C (p.Cys358Ser)
c.36G>C
c.242G>C (p.Cys81Ser)
12g.51915483G=CA2036236234ACVRL1c.761G= (p.Cys254=)
c.1031G= (p.Cys344=)
c.509G= (p.Cys170=)
c.1073G= (p.Cys358=)
c.36G=
c.242G= (p.Cys81=)
12g.51915483G>TCA384901742ACVRL1c.761G>T (p.Cys254Phe)
c.1031G>T (p.Cys344Phe)
c.509G>T (p.Cys170Phe)
c.1073G>T (p.Cys358Phe)
c.36G>T
c.242G>T (p.Cys81Phe)
 ClinVar dbSNP
12g.51915484T>ACA384901744ACVRL1c.762T>A (p.Cys254Ter)
c.1032T>A (p.Cys344Ter)
c.510T>A (p.Cys170Ter)
c.1074T>A (p.Cys358Ter)
c.37T>A
c.243T>A (p.Cys81Ter)
 ClinVar dbSNP
12g.51915484T>CCA6573036ACVRL1c.762T>C (p.Cys254=)
c.1032T>C (p.Cys344=)
c.510T>C (p.Cys170=)
c.1074T>C (p.Cys358=)
c.37T>C
c.243T>C (p.Cys81=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915484T>GCA384901745ACVRL1c.762T>G (p.Cys254Trp)
c.1032T>G (p.Cys344Trp)
c.510T>G (p.Cys170Trp)
c.1074T>G (p.Cys358Trp)
c.37T>G
c.243T>G (p.Cys81Trp)
12g.51915484T=CA2036236238ACVRL1c.762T= (p.Cys254=)
c.1032T= (p.Cys344=)
c.510T= (p.Cys170=)
c.1074T= (p.Cys358=)
c.37T=
c.243T= (p.Cys81=)
12g.51915485T>ACA384901748ACVRL1c.763T>A (p.Cys255Ser)
c.1033T>A (p.Cys345Ser)
c.511T>A (p.Cys171Ser)
c.1075T>A (p.Cys359Ser)
c.38T>A
c.244T>A (p.Cys82Ser)
12g.51915485T>CCA16613827ACVRL1c.763T>C (p.Cys255Arg)
c.1033T>C (p.Cys345Arg)
c.511T>C (p.Cys171Arg)
c.1075T>C (p.Cys359Arg)
c.38T>C
c.244T>C (p.Cys82Arg)
 ClinVar dbSNP
12g.51915485T>GCA384901746ACVRL1c.763T>G (p.Cys255Gly)
c.1033T>G (p.Cys345Gly)
c.511T>G (p.Cys171Gly)
c.1075T>G (p.Cys359Gly)
c.38T>G
c.244T>G (p.Cys82Gly)
12g.51915485T=CA2036236244ACVRL1c.763T= (p.Cys255=)
c.1033T= (p.Cys345=)
c.511T= (p.Cys171=)
c.1075T= (p.Cys359=)
c.38T=
c.244T= (p.Cys82=)
12g.51915485_51915490delinsTGCATCCA2036236246ACVRL1c.763_768delinsTGCATC (p.Cys255=)
c.1033_1038delinsTGCATC (p.Cys345=)
c.511_516delinsTGCATC (p.Cys171=)
c.1075_1080delinsTGCATC (p.Cys359=)
c.38_43delinsTGCATC
c.244_249delinsTGCATC (p.Cys82=)
12g.51915486G>ACA384901750ACVRL1c.764G>A (p.Cys255Tyr)
c.1034G>A (p.Cys345Tyr)
c.512G>A (p.Cys171Tyr)
c.1076G>A (p.Cys359Tyr)
c.39G>A
c.245G>A (p.Cys82Tyr)
 ClinVar dbSNP gnomAD v4
12g.51915486G>CCA384901756ACVRL1c.764G>C (p.Cys255Ser)
c.1034G>C (p.Cys345Ser)
c.512G>C (p.Cys171Ser)
c.1076G>C (p.Cys359Ser)
c.39G>C
c.245G>C (p.Cys82Ser)
 gnomAD v4
12g.51915486G=CA2036236247ACVRL1c.764G= (p.Cys255=)
c.1034G= (p.Cys345=)
c.512G= (p.Cys171=)
c.1076G= (p.Cys359=)
c.39G=
c.245G= (p.Cys82=)
12g.51915486G>TCA384901758ACVRL1c.764G>T (p.Cys255Phe)
c.1034G>T (p.Cys345Phe)
c.512G>T (p.Cys171Phe)
c.1076G>T (p.Cys359Phe)
c.39G>T
c.245G>T (p.Cys82Phe)
12g.51915488_51915492delCA891843495ACVRL1c.766_770del (p.Ile256ArgfsTer?)
c.1036_1040del (p.Ile346ArgfsTer?)
c.514_518del (p.Ile172ArgfsTer?)
c.1078_1082del (p.Ile360ArgfsTer?)
c.41_45del
c.247_251del (p.Ile83ArgfsTer?)
 ClinVar dbSNP
12g.51915487C>ACA384901766ACVRL1c.765C>A (p.Cys255Ter)
c.1035C>A (p.Cys345Ter)
c.513C>A (p.Cys171Ter)
c.1077C>A (p.Cys359Ter)
c.40C>A
c.246C>A (p.Cys82Ter)
 ClinVar
12g.51915487C>GCA384901770ACVRL1c.765C>G (p.Cys255Trp)
c.1035C>G (p.Cys345Trp)
c.513C>G (p.Cys171Trp)
c.1077C>G (p.Cys359Trp)
c.40C>G
c.246C>G (p.Cys82Trp)
12g.51915487C>TCA480063300ACVRL1c.765C>T (p.Cys255=)
c.1035C>T (p.Cys345=)
c.513C>T (p.Cys171=)
c.1077C>T (p.Cys359=)
c.40C>T
c.246C>T (p.Cys82=)
 gnomAD v4
12g.51915488_51915507dupCA689766504ACVRL1c.766_778+7dup
c.1036_1048+7dup
c.514_526+7dup
c.1078_1090+7dup
c.41_53+7dup
c.247_259+7dup
 dbSNP gnomAD v3 gnomAD v4
12g.51915488A>CCA384901773ACVRL1c.766A>C (p.Ile256Leu)
c.1036A>C (p.Ile346Leu)
c.514A>C (p.Ile172Leu)
c.1078A>C (p.Ile360Leu)
c.41A>C
c.247A>C (p.Ile83Leu)
 gnomAD v4
12g.51915488A>GCA384901779ACVRL1c.766A>G (p.Ile256Val)
c.1036A>G (p.Ile346Val)
c.514A>G (p.Ile172Val)
c.1078A>G (p.Ile360Val)
c.41A>G
c.247A>G (p.Ile83Val)
 COSMIC COSMIC
12g.51915488A>TCA384901776ACVRL1c.766A>T (p.Ile256Phe)
c.1036A>T (p.Ile346Phe)
c.514A>T (p.Ile172Phe)
c.1078A>T (p.Ile360Phe)
c.41A>T
c.247A>T (p.Ile83Phe)
 ClinVar
12g.51915488_51915491delinsATCGCA2036236254ACVRL1c.766_769delinsATCG (p.Ile256=)
c.1036_1039delinsATCG (p.Ile346=)
c.514_517delinsATCG (p.Ile172=)
c.1078_1081delinsATCG (p.Ile360=)
c.41_44delinsATCG
c.247_250delinsATCG (p.Ile83=)
12g.51915489T>ACA384901783ACVRL1c.767T>A (p.Ile256Asn)
c.1037T>A (p.Ile346Asn)
c.515T>A (p.Ile172Asn)
c.1079T>A (p.Ile360Asn)
c.42T>A
c.248T>A (p.Ile83Asn)
12g.51915489T>CCA384901786ACVRL1c.767T>C (p.Ile256Thr)
c.1037T>C (p.Ile346Thr)
c.515T>C (p.Ile172Thr)
c.1079T>C (p.Ile360Thr)
c.42T>C
c.248T>C (p.Ile83Thr)
12g.51915489T>GCA384901790ACVRL1c.767T>G (p.Ile256Ser)
c.1037T>G (p.Ile346Ser)
c.515T>G (p.Ile172Ser)
c.1079T>G (p.Ile360Ser)
c.42T>G
c.248T>G (p.Ile83Ser)
 ClinVar
12g.51915489_51915491delCA1139662703ACVRL1c.767_769del (p.Ile256_Ala257delinsThr)
c.1037_1039del (p.Ile346_Ala347delinsThr)
c.515_517del (p.Ile172_Ala173delinsThr)
c.1079_1081del (p.Ile360_Ala361delinsThr)
c.42_44del
c.248_250del (p.Ile83_Ala84delinsThr)
 ClinVar dbSNP
12g.51915490C>ACA480063301ACVRL1c.768C>A (p.Ile256=)
c.1038C>A (p.Ile346=)
c.516C>A (p.Ile172=)
c.1080C>A (p.Ile360=)
c.43C>A
c.249C>A (p.Ile83=)
 gnomAD v4
12g.51915490C>GCA384901793ACVRL1c.768C>G (p.Ile256Met)
c.1038C>G (p.Ile346Met)
c.516C>G (p.Ile172Met)
c.1080C>G (p.Ile360Met)
c.43C>G
c.249C>G (p.Ile83Met)
 ClinVar
12g.51915490C>TCA480063302ACVRL1c.768C>T (p.Ile256=)
c.1038C>T (p.Ile346=)
c.516C>T (p.Ile172=)
c.1080C>T (p.Ile360=)
c.43C>T
c.249C>T (p.Ile83=)
12g.51915492_51915494dupCA2697554496ACVRL1c.770_772dup (p.Ala257_Asp258insAla)
c.1040_1042dup (p.Ala347_Asp348insAla)
c.518_520dup (p.Ala173_Asp174insAla)
c.1082_1084dup (p.Ala361_Asp362insAla)
c.45_47dup
c.251_253dup (p.Ala84_Asp85insAla)
 ClinVar
12g.51915492_51915494delCA2695216753ACVRL1c.770_772del (p.Ala257del)
c.1040_1042del (p.Ala347del)
c.518_520del (p.Ala173del)
c.1082_1084del (p.Ala361del)
c.45_47del
c.251_253del (p.Ala84del)
12g.51915491G>ACA384901807ACVRL1c.769G>A (p.Ala257Thr)
c.1039G>A (p.Ala347Thr)
c.517G>A (p.Ala173Thr)
c.1081G>A (p.Ala361Thr)
c.44G>A
c.250G>A (p.Ala84Thr)
12g.51915491G>CCA384901809ACVRL1c.769G>C (p.Ala257Pro)
c.1039G>C (p.Ala347Pro)
c.517G>C (p.Ala173Pro)
c.1081G>C (p.Ala361Pro)
c.44G>C
c.250G>C (p.Ala84Pro)
 ClinVar
12g.51915491G>TCA384901815ACVRL1c.769G>T (p.Ala257Ser)
c.1039G>T (p.Ala347Ser)
c.517G>T (p.Ala173Ser)
c.1081G>T (p.Ala361Ser)
c.44G>T
c.250G>T (p.Ala84Ser)
12g.51915491_51915492delinsGCCA2036236260ACVRL1c.769_770delinsGC (p.Ala257=)
c.1039_1040delinsGC (p.Ala347=)
c.517_518delinsGC (p.Ala173=)
c.1081_1082delinsGC (p.Ala361=)
c.44_45delinsGC
c.250_251delinsGC (p.Ala84=)
12g.51915492C>ACA384901818ACVRL1c.770C>A (p.Ala257Asp)
c.1040C>A (p.Ala347Asp)
c.518C>A (p.Ala173Asp)
c.1082C>A (p.Ala361Asp)
c.45C>A
c.251C>A (p.Ala84Asp)
12g.51915492C>GCA384901819ACVRL1c.770C>G (p.Ala257Gly)
c.1040C>G (p.Ala347Gly)
c.518C>G (p.Ala173Gly)
c.1082C>G (p.Ala361Gly)
c.45C>G
c.251C>G (p.Ala84Gly)
12g.51915492C>TCA384901821ACVRL1c.770C>T (p.Ala257Val)
c.1040C>T (p.Ala347Val)
c.518C>T (p.Ala173Val)
c.1082C>T (p.Ala361Val)
c.45C>T
c.251C>T (p.Ala84Val)
12g.51915493delCA1139662704ACVRL1c.771del (p.Asp258ThrfsTer6)
c.1041del (p.Asp348ThrfsTer6)
c.519del (p.Asp174ThrfsTer6)
c.1083del (p.Asp362ThrfsTer6)
c.46del
c.252del (p.Asp85ThrfsTer6)
 ClinVar dbSNP
12g.51915493C>ACA480063303ACVRL1c.771C>A (p.Ala257=)
c.1041C>A (p.Ala347=)
c.519C>A (p.Ala173=)
c.1083C>A (p.Ala361=)
c.46C>A
c.252C>A (p.Ala84=)
 gnomAD v4
12g.51915493C=CA2036236273ACVRL1c.771C= (p.Ala257=)
c.1041C= (p.Ala347=)
c.519C= (p.Ala173=)
c.1083C= (p.Ala361=)
c.46C=
c.252C= (p.Ala84=)
12g.51915493C>GCA6573037ACVRL1c.771C>G (p.Ala257=)
c.1041C>G (p.Ala347=)
c.519C>G (p.Ala173=)
c.1083C>G (p.Ala361=)
c.46C>G
c.252C>G (p.Ala84=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915493C>TCA6573038ACVRL1c.771C>T (p.Ala257=)
c.1041C>T (p.Ala347=)
c.519C>T (p.Ala173=)
c.1083C>T (p.Ala361=)
c.46C>T
c.252C>T (p.Ala84=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915493_51915494delinsCGCA2036236276ACVRL1c.771_772delinsCG (p.Ala257=)
c.1041_1042delinsCG (p.Ala347=)
c.519_520delinsCG (p.Ala173=)
c.1083_1084delinsCG (p.Ala361=)
c.46_47delinsCG
c.252_253delinsCG (p.Ala84=)
12g.51915494delCA891843496ACVRL1c.772del (p.Asp258ThrfsTer6)
c.1042del (p.Asp348ThrfsTer6)
c.520del (p.Asp174ThrfsTer6)
c.1084del (p.Asp362ThrfsTer6)
c.47del
c.253del (p.Asp85ThrfsTer6)
 ClinVar dbSNP
12g.51915494G>ACA384901834ACVRL1c.772G>A (p.Asp258Asn)
c.1042G>A (p.Asp348Asn)
c.520G>A (p.Asp174Asn)
c.1084G>A (p.Asp362Asn)
c.47G>A
c.253G>A (p.Asp85Asn)
 ClinVar
12g.51915494G>CCA384901838ACVRL1c.772G>C (p.Asp258His)
c.1042G>C (p.Asp348His)
c.520G>C (p.Asp174His)
c.1084G>C (p.Asp362His)
c.47G>C
c.253G>C (p.Asp85His)
 ClinVar
12g.51915494G=CA2036236280ACVRL1c.772G= (p.Asp258=)
c.1042G= (p.Asp348=)
c.520G= (p.Asp174=)
c.1084G= (p.Asp362=)
c.47G=
c.253G= (p.Asp85=)
12g.51915494G>TCA384901836ACVRL1c.772G>T (p.Asp258Tyr)
c.1042G>T (p.Asp348Tyr)
c.520G>T (p.Asp174Tyr)
c.1084G>T (p.Asp362Tyr)
c.47G>T
c.253G>T (p.Asp85Tyr)
 ClinVar dbSNP
12g.51915495_51915501dupCA1139662705ACVRL1c.773_778+1dup
c.1043_1048+1dup
c.521_526+1dup
c.1085_1090+1dup
c.48_53+1dup
c.254_259+1dup
 ClinVar dbSNP
12g.51915496_51915504dupCA2580086489ACVRL1c.774_778+4dup
c.1044_1048+4dup
c.522_526+4dup
c.1086_1090+4dup
c.49_53+4dup
c.255_259+4dup
 ClinVar
12g.51915495A>CCA384901839ACVRL1c.773A>C (p.Asp258Ala)
c.1043A>C (p.Asp348Ala)
c.521A>C (p.Asp174Ala)
c.1085A>C (p.Asp362Ala)
c.48A>C
c.254A>C (p.Asp85Ala)
12g.51915495A>GCA384901842ACVRL1c.773A>G (p.Asp258Gly)
c.1043A>G (p.Asp348Gly)
c.521A>G (p.Asp174Gly)
c.1085A>G (p.Asp362Gly)
c.48A>G
c.254A>G (p.Asp85Gly)
12g.51915495A>TCA384901845ACVRL1c.773A>T (p.Asp258Val)
c.1043A>T (p.Asp348Val)
c.521A>T (p.Asp174Val)
c.1085A>T (p.Asp362Val)
c.48A>T
c.254A>T (p.Asp85Val)
12g.51915496C>ACA384901849ACVRL1c.774C>A (p.Asp258Glu)
c.1044C>A (p.Asp348Glu)
c.522C>A (p.Asp174Glu)
c.1086C>A (p.Asp362Glu)
c.49C>A
c.255C>A (p.Asp85Glu)
12g.51915496C>GCA384901850ACVRL1c.774C>G (p.Asp258Glu)
c.1044C>G (p.Asp348Glu)
c.522C>G (p.Asp174Glu)
c.1086C>G (p.Asp362Glu)
c.49C>G
c.255C>G (p.Asp85Glu)
 ClinVar
12g.51915496C>TCA480063304ACVRL1c.774C>T (p.Asp258=)
c.1044C>T (p.Asp348=)
c.522C>T (p.Asp174=)
c.1086C>T (p.Asp362=)
c.49C>T
c.255C>T (p.Asp85=)
12g.51915497C>ACA384901856ACVRL1c.775C>A (p.Leu259Met)
c.1045C>A (p.Leu349Met)
c.523C>A (p.Leu175Met)
c.1087C>A (p.Leu363Met)
c.50C>A
c.256C>A (p.Leu86Met)
12g.51915497C>GCA384901858ACVRL1c.775C>G (p.Leu259Val)
c.1045C>G (p.Leu349Val)
c.523C>G (p.Leu175Val)
c.1087C>G (p.Leu363Val)
c.50C>G
c.256C>G (p.Leu86Val)
12g.51915497C>TCA480063305ACVRL1c.775C>T (p.Leu259=)
c.1045C>T (p.Leu349=)
c.523C>T (p.Leu175=)
c.1087C>T (p.Leu363=)
c.50C>T
c.256C>T (p.Leu86=)
12g.51915498T>ACA384901860ACVRL1c.776T>A (p.Leu259Gln)
c.1046T>A (p.Leu349Gln)
c.524T>A (p.Leu175Gln)
c.1088T>A (p.Leu363Gln)
c.51T>A
c.257T>A (p.Leu86Gln)
12g.51915498T>CCA6573039ACVRL1c.776T>C (p.Leu259Pro)
c.1046T>C (p.Leu349Pro)
c.524T>C (p.Leu175Pro)
c.1088T>C (p.Leu363Pro)
c.51T>C
c.257T>C (p.Leu86Pro)
 ClinVar dbSNP ExAC gnomAD v2 COSMIC COSMIC
12g.51915498T>GCA384901862ACVRL1c.776T>G (p.Leu259Arg)
c.1046T>G (p.Leu349Arg)
c.524T>G (p.Leu175Arg)
c.1088T>G (p.Leu363Arg)
c.51T>G
c.257T>G (p.Leu86Arg)
 ClinVar dbSNP
12g.51915498T=CA2036236285ACVRL1c.776T= (p.Leu259=)
c.1046T= (p.Leu349=)
c.524T= (p.Leu175=)
c.1088T= (p.Leu363=)
c.51T=
c.257T= (p.Leu86=)
12g.51915499G>ACA480063306ACVRL1c.777G>A (p.Leu259=)
c.1047G>A (p.Leu349=)
c.525G>A (p.Leu175=)
c.1089G>A (p.Leu363=)
c.52G>A
c.258G>A (p.Leu86=)
12g.51915499G>CCA480063308ACVRL1c.777G>C (p.Leu259=)
c.1047G>C (p.Leu349=)
c.525G>C (p.Leu175=)
c.1089G>C (p.Leu363=)
c.52G>C
c.258G>C (p.Leu86=)
12g.51915499G>TCA480063307ACVRL1c.777G>T (p.Leu259=)
c.1047G>T (p.Leu349=)
c.525G>T (p.Leu175=)
c.1089G>T (p.Leu363=)
c.52G>T
c.258G>T (p.Leu86=)
12g.51915500G>ACA384901863ACVRL1c.778G>A (p.Gly260Ser)
c.1048G>A (p.Gly350Ser)
c.526G>A (p.Gly176Ser)
c.1090G>A (p.Gly364Ser)
c.53G>A
c.259G>A (p.Gly87Ser)
 ClinVar COSMIC COSMIC
12g.51915500G>CCA384901864ACVRL1c.778G>C (p.Gly260Arg)
c.1048G>C (p.Gly350Arg)
c.526G>C (p.Gly176Arg)
c.1090G>C (p.Gly364Arg)
c.53G>C
c.259G>C (p.Gly87Arg)
 ClinVar dbSNP
12g.51915500G=CA2036236290ACVRL1c.778G= (p.Gly260=)
c.1048G= (p.Gly350=)
c.526G= (p.Gly176=)
c.1090G= (p.Gly364=)
c.53G=
c.259G= (p.Gly87=)
12g.51915500G>TCA384901866ACVRL1c.778G>T (p.Gly260Cys)
c.1048G>T (p.Gly350Cys)
c.526G>T (p.Gly176Cys)
c.1090G>T (p.Gly364Cys)
c.53G>T
c.259G>T (p.Gly87Cys)
12g.51915501G>ACA384901874ACVRL1c.778+1G>A (n.778+1G>A)
c.1048+1G>A (n.1048+1G>A)
c.526+1G>A (n.526+1G>A)
c.1090+1G>A (n.1090+1G>A)
c.53+1G>A
c.259+1G>A (n.259+1G>A)
 ClinVar dbSNP
12g.51915501G>CCA384901868ACVRL1c.778+1G>C (n.778+1G>C)
c.1048+1G>C (n.1048+1G>C)
c.526+1G>C (n.526+1G>C)
c.1090+1G>C (n.1090+1G>C)
c.53+1G>C
c.259+1G>C (n.259+1G>C)
12g.51915501G>TCA384901870ACVRL1c.778+1G>T (n.778+1G>T)
c.1048+1G>T (n.1048+1G>T)
c.526+1G>T (n.526+1G>T)
c.1090+1G>T (n.1090+1G>T)
c.53+1G>T
c.259+1G>T (n.259+1G>T)
 ClinVar
12g.51915502T>ACA384901877ACVRL1c.778+2T>A (n.778+2T>A)
c.1048+2T>A (n.1048+2T>A)
c.526+2T>A (n.526+2T>A)
c.1090+2T>A (n.1090+2T>A)
c.53+2T>A
c.259+2T>A (n.259+2T>A)
12g.51915502T>CCA384901880ACVRL1c.778+2T>C (n.778+2T>C)
c.1048+2T>C (n.1048+2T>C)
c.526+2T>C (n.526+2T>C)
c.1090+2T>C (n.1090+2T>C)
c.53+2T>C
c.259+2T>C (n.259+2T>C)
 ClinVar
12g.51915502T>GCA384901886ACVRL1c.778+2T>G (n.778+2T>G)
c.1048+2T>G (n.1048+2T>G)
c.526+2T>G (n.526+2T>G)
c.1090+2T>G (n.1090+2T>G)
c.53+2T>G
c.259+2T>G (n.259+2T>G)
 ClinVar dbSNP
12g.51915502T=CA2036236295ACVRL1c.778+2T= (n.778+2T=)
c.1048+2T= (n.1048+2T=)
c.526+2T= (n.526+2T=)
c.1090+2T= (n.1090+2T=)
c.53+2T=
c.259+2T= (n.259+2T=)
12g.51915503G>ACA605238844ACVRL1c.778+3G>A (n.778+3G>A)
c.1048+3G>A (n.1048+3G>A)
c.526+3G>A (n.526+3G>A)
c.1090+3G>A (n.1090+3G>A)
c.53+3G>A
c.259+3G>A (n.259+3G>A)
 dbSNP gnomAD v2 gnomAD v4
12g.51915503G=CA2036236297ACVRL1c.778+3G= (n.778+3G=)
c.1048+3G= (n.1048+3G=)
c.526+3G= (n.526+3G=)
c.1090+3G= (n.1090+3G=)
c.53+3G=
c.259+3G= (n.259+3G=)
12g.51915503G>TCA2618858041ACVRL1c.778+3G>T (n.778+3G>T)
c.1048+3G>T (n.1048+3G>T)
c.526+3G>T (n.526+3G>T)
c.1090+3G>T (n.1090+3G>T)
c.53+3G>T
c.259+3G>T (n.259+3G>T)
 gnomAD v4
12g.51915503_51915504delinsGACA2036236301ACVRL1c.778+3_778+4delinsGA (n.778+3_778+4delinsGA)
c.1048+3_1048+4delinsGA (n.1048+3_1048+4delinsGA)
c.526+3_526+4delinsGA (n.526+3_526+4delinsGA)
c.1090+3_1090+4delinsGA (n.1090+3_1090+4delinsGA)
c.53+3_53+4delinsGA
c.259+3_259+4delinsGA (n.259+3_259+4delinsGA)
12g.51915503_51915504delinsTTCA2036236303ACVRL1c.778+3_778+4delinsTT (n.778+3_778+4delinsTT)
c.1048+3_1048+4delinsTT (n.1048+3_1048+4delinsTT)
c.526+3_526+4delinsTT (n.526+3_526+4delinsTT)
c.1090+3_1090+4delinsTT (n.1090+3_1090+4delinsTT)
c.53+3_53+4delinsTT
c.259+3_259+4delinsTT (n.259+3_259+4delinsTT)
 ClinVar dbSNP
12g.51915505G>ACA2580086492ACVRL1c.778+5G>A (n.778+5G>A)
c.1048+5G>A (n.1048+5G>A)
c.526+5G>A (n.526+5G>A)
c.1090+5G>A (n.1090+5G>A)
c.53+5G>A
c.259+5G>A (n.259+5G>A)
 ClinVar
12g.51915505G>TCA2580086493ACVRL1c.778+5G>T (n.778+5G>T)
c.1048+5G>T (n.1048+5G>T)
c.526+5G>T (n.526+5G>T)
c.1090+5G>T (n.1090+5G>T)
c.53+5G>T
c.259+5G>T (n.259+5G>T)
 ClinVar gnomAD v4
12g.51915505_51915506insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCACCA2795983091ACVRL1c.778+5_778+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.778+5_778+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC)
c.1048+5_1048+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.1048+5_1048+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC)
c.526+5_526+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.526+5_526+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC)
c.1090+5_1090+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.1090+5_1090+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC)
c.53+5_53+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC
c.259+5_259+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC (n.259+5_259+6insAGCGCCCCTTGGGGACGCACGGTGCCACCCATCCATCCACGCAC)
12g.51915506C>ACA2618858051ACVRL1c.778+6C>A (n.778+6C>A)
c.1048+6C>A (n.1048+6C>A)
c.526+6C>A (n.526+6C>A)
c.1090+6C>A (n.1090+6C>A)
c.53+6C>A
c.259+6C>A (n.259+6C>A)
 gnomAD v4
12g.51915506C>TCA2618858056ACVRL1c.778+6C>T (n.778+6C>T)
c.1048+6C>T (n.1048+6C>T)
c.526+6C>T (n.526+6C>T)
c.1090+6C>T (n.1090+6C>T)
c.53+6C>T
c.259+6C>T (n.259+6C>T)
 gnomAD v4
12g.51915507C=CA2036236305ACVRL1c.778+7C= (n.778+7C=)
c.1048+7C= (n.1048+7C=)
c.526+7C= (n.526+7C=)
c.1090+7C= (n.1090+7C=)
c.53+7C=
c.259+7C= (n.259+7C=)
12g.51915507C>TCA2036236306ACVRL1c.778+7C>T (n.778+7C>T)
c.1048+7C>T (n.1048+7C>T)
c.526+7C>T (n.526+7C>T)
c.1090+7C>T (n.1090+7C>T)
c.53+7C>T
c.259+7C>T (n.259+7C>T)
 ClinVar dbSNP gnomAD v4
12g.51915508G>ACA2580086494ACVRL1c.778+8G>A (n.778+8G>A)
c.1048+8G>A (n.1048+8G>A)
c.526+8G>A (n.526+8G>A)
c.1090+8G>A (n.1090+8G>A)
c.53+8G>A
c.259+8G>A (n.259+8G>A)
 ClinVar
12g.51915508G=CA2036236307ACVRL1c.778+8G= (n.778+8G=)
c.1048+8G= (n.1048+8G=)
c.526+8G= (n.526+8G=)
c.1090+8G= (n.1090+8G=)
c.53+8G=
c.259+8G= (n.259+8G=)
12g.51915508G>TCA947666404ACVRL1c.778+8G>T (n.778+8G>T)
c.1048+8G>T (n.1048+8G>T)
c.526+8G>T (n.526+8G>T)
c.1090+8G>T (n.1090+8G>T)
c.53+8G>T
c.259+8G>T (n.259+8G>T)
 dbSNP gnomAD v3 gnomAD v4
12g.51915510delCA2618858059ACVRL1c.778+10del (n.778+10del)
c.1048+10del (n.1048+10del)
c.526+10del (n.526+10del)
c.1090+10del (n.1090+10del)
c.53+10del
c.259+10del (n.259+10del)
 gnomAD v4
12g.51915512_51915516dupCA2575161493ACVRL1c.778+12_778+16dup (n.778+12_778+16dup)
c.1048+12_1048+16dup (n.1048+12_1048+16dup)
c.526+12_526+16dup (n.526+12_526+16dup)
c.1090+12_1090+16dup (n.1090+12_1090+16dup)
c.53+12_53+16dup
c.259+12_259+16dup (n.259+12_259+16dup)
12g.51915509G>ACA2618858070ACVRL1c.778+9G>A (n.778+9G>A)
c.1048+9G>A (n.1048+9G>A)
c.526+9G>A (n.526+9G>A)
c.1090+9G>A (n.1090+9G>A)
c.53+9G>A
c.259+9G>A (n.259+9G>A)
 gnomAD v4
12g.51915510G>ACA2618858073ACVRL1c.778+10G>A (n.778+10G>A)
c.1048+10G>A (n.1048+10G>A)
c.526+10G>A (n.526+10G>A)
c.1090+10G>A (n.1090+10G>A)
c.53+10G>A
c.259+10G>A (n.259+10G>A)
 gnomAD v4
12g.51915510G>TCA2618858076ACVRL1c.778+10G>T (n.778+10G>T)
c.1048+10G>T (n.1048+10G>T)
c.526+10G>T (n.526+10G>T)
c.1090+10G>T (n.1090+10G>T)
c.53+10G>T
c.259+10G>T (n.259+10G>T)
 gnomAD v4
12g.51915511C>ACA6573041ACVRL1c.778+11C>A (n.778+11C>A)
c.1048+11C>A (n.1048+11C>A)
c.526+11C>A (n.526+11C>A)
c.1090+11C>A (n.1090+11C>A)
c.53+11C>A
c.259+11C>A (n.259+11C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
12g.51915511C=CA2036236310ACVRL1c.778+11C= (n.778+11C=)
c.1048+11C= (n.1048+11C=)
c.526+11C= (n.526+11C=)
c.1090+11C= (n.1090+11C=)
c.53+11C=
c.259+11C= (n.259+11C=)
12g.51915511C>TCA6573040ACVRL1c.778+11C>T (n.778+11C>T)
c.1048+11C>T (n.1048+11C>T)
c.526+11C>T (n.526+11C>T)
c.1090+11C>T (n.1090+11C>T)
c.53+11C>T
c.259+11C>T (n.259+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915512G>CCA6573042ACVRL1c.778+12G>C (n.778+12G>C)
c.1048+12G>C (n.1048+12G>C)
c.526+12G>C (n.526+12G>C)
c.1090+12G>C (n.1090+12G>C)
c.53+12G>C
c.259+12G>C (n.259+12G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12g.51915512G=CA2036236311ACVRL1c.778+12G= (n.778+12G=)
c.1048+12G= (n.1048+12G=)
c.526+12G= (n.526+12G=)
c.1090+12G= (n.1090+12G=)
c.53+12G=
c.259+12G= (n.259+12G=)
12g.51915512G>TCA2505634717ACVRL1c.778+12G>T (n.778+12G>T)
c.1048+12G>T (n.1048+12G>T)
c.526+12G>T (n.526+12G>T)
c.1090+12G>T (n.1090+12G>T)
c.53+12G>T
c.259+12G>T (n.259+12G>T)
12g.51915515delCA2618858089ACVRL1c.778+15del (n.778+15del)
c.1048+15del (n.1048+15del)
c.526+15del (n.526+15del)
c.1090+15del (n.1090+15del)
c.53+15del
c.259+15del (n.259+15del)
 gnomAD v4

Number of alleles fetched