Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.53951899C>ACA389785088BMP4c.324G>T (p.Glu108Asp)
c.249G>T (p.Glu83Asp)
c.135G>T (p.Glu45Asp)
c.465G>T (p.Glu155Asp)
 gnomAD v4
14g.53951899C>GCA389785089BMP4c.324G>C (p.Glu108Asp)
c.249G>C (p.Glu83Asp)
c.135G>C (p.Glu45Asp)
c.465G>C (p.Glu155Asp)
 gnomAD v4
14g.53951899C>TCA486658571BMP4c.324G>A (p.Glu108=)
c.249G>A (p.Glu83=)
c.135G>A (p.Glu45=)
c.465G>A (p.Glu155=)
14g.53951900T>ACA389785090BMP4c.323A>T (p.Glu108Val)
c.248A>T (p.Glu83Val)
c.134A>T (p.Glu45Val)
c.464A>T (p.Glu155Val)
14g.53951900T>CCA389785091BMP4c.323A>G (p.Glu108Gly)
c.248A>G (p.Glu83Gly)
c.134A>G (p.Glu45Gly)
c.464A>G (p.Glu155Gly)
14g.53951900T>GCA389785092BMP4c.323A>C (p.Glu108Ala)
c.248A>C (p.Glu83Ala)
c.134A>C (p.Glu45Ala)
c.464A>C (p.Glu155Ala)
14g.53951901C>ACA389785093BMP4c.322G>T (p.Glu108Ter)
c.247G>T (p.Glu83Ter)
c.133G>T (p.Glu45Ter)
c.463G>T (p.Glu155Ter)
14g.53951901C=CA2137819060BMP4c.322G= (p.Glu108=)
c.247G= (p.Glu83=)
c.133G= (p.Glu45=)
c.463G= (p.Glu155=)
14g.53951901C>GCA389785094BMP4c.322G>C (p.Glu108Gln)
c.247G>C (p.Glu83Gln)
c.133G>C (p.Glu45Gln)
c.463G>C (p.Glu155Gln)
 dbSNP gnomAD v3 gnomAD v4
14g.53951901C>TCA389785095BMP4c.322G>A (p.Glu108Lys)
c.247G>A (p.Glu83Lys)
c.133G>A (p.Glu45Lys)
c.463G>A (p.Glu155Lys)
14g.53951902A=CA2137819065BMP4c.321T= (p.Pro107=)
c.246T= (p.Pro82=)
c.132T= (p.Pro44=)
c.462T= (p.Pro154=)
14g.53951902A>CCA486658576BMP4c.321T>G (p.Pro107=)
c.246T>G (p.Pro82=)
c.132T>G (p.Pro44=)
c.462T>G (p.Pro154=)
14g.53951902A>GCA7191794BMP4c.321T>C (p.Pro107=)
c.246T>C (p.Pro82=)
c.132T>C (p.Pro44=)
c.462T>C (p.Pro154=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951902A>TCA486658577BMP4c.321T>A (p.Pro107=)
c.246T>A (p.Pro82=)
c.132T>A (p.Pro44=)
c.462T>A (p.Pro154=)
14g.53951903G>ACA389785096BMP4c.320C>T (p.Pro107Leu)
c.245C>T (p.Pro82Leu)
c.131C>T (p.Pro44Leu)
c.461C>T (p.Pro154Leu)
14g.53951903G>CCA389785097BMP4c.320C>G (p.Pro107Arg)
c.245C>G (p.Pro82Arg)
c.131C>G (p.Pro44Arg)
c.461C>G (p.Pro154Arg)
14g.53951903G>TCA389785098BMP4c.320C>A (p.Pro107His)
c.245C>A (p.Pro82His)
c.131C>A (p.Pro44His)
c.461C>A (p.Pro154His)
 gnomAD v4
14g.53951904G>ACA389785099BMP4c.319C>T (p.Pro107Ser)
c.244C>T (p.Pro82Ser)
c.130C>T (p.Pro44Ser)
c.460C>T (p.Pro154Ser)
 gnomAD v4
14g.53951904G>CCA389785100BMP4c.319C>G (p.Pro107Ala)
c.244C>G (p.Pro82Ala)
c.130C>G (p.Pro44Ala)
c.460C>G (p.Pro154Ala)
14g.53951904G>TCA389785101BMP4c.319C>A (p.Pro107Thr)
c.244C>A (p.Pro82Thr)
c.130C>A (p.Pro44Thr)
c.460C>A (p.Pro154Thr)
 gnomAD v4
14g.53951905A=CA2137819068BMP4c.318T= (p.Tyr106=)
c.243T= (p.Tyr81=)
c.129T= (p.Tyr43=)
c.459T= (p.Tyr153=)
14g.53951905A>CCA389785102BMP4c.318T>G (p.Tyr106Ter)
c.243T>G (p.Tyr81Ter)
c.129T>G (p.Tyr43Ter)
c.459T>G (p.Tyr153Ter)
14g.53951905A>GCA486658584BMP4c.318T>C (p.Tyr106=)
c.243T>C (p.Tyr81=)
c.129T>C (p.Tyr43=)
c.459T>C (p.Tyr153=)
 dbSNP gnomAD v2
14g.53951905A>TCA389785103BMP4c.318T>A (p.Tyr106Ter)
c.243T>A (p.Tyr81Ter)
c.129T>A (p.Tyr43Ter)
c.459T>A (p.Tyr153Ter)
 gnomAD v4
14g.53951906T>ACA389785104BMP4c.317A>T (p.Tyr106Phe)
c.242A>T (p.Tyr81Phe)
c.128A>T (p.Tyr43Phe)
c.458A>T (p.Tyr153Phe)
14g.53951906T>CCA389785105BMP4c.317A>G (p.Tyr106Cys)
c.242A>G (p.Tyr81Cys)
c.128A>G (p.Tyr43Cys)
c.458A>G (p.Tyr153Cys)
 dbSNP gnomAD v2 gnomAD v4
14g.53951906T>GCA389785106BMP4c.317A>C (p.Tyr106Ser)
c.242A>C (p.Tyr81Ser)
c.128A>C (p.Tyr43Ser)
c.458A>C (p.Tyr153Ser)
14g.53951906T=CA2137819070BMP4c.317A= (p.Tyr106=)
c.242A= (p.Tyr81=)
c.128A= (p.Tyr43=)
c.458A= (p.Tyr153=)
14g.53951907A=CA2137819072BMP4c.316T= (p.Tyr106=)
c.241T= (p.Tyr81=)
c.127T= (p.Tyr43=)
c.457T= (p.Tyr153=)
14g.53951907A>CCA389785107BMP4c.316T>G (p.Tyr106Asp)
c.241T>G (p.Tyr81Asp)
c.127T>G (p.Tyr43Asp)
c.457T>G (p.Tyr153Asp)
14g.53951907A>GCA389785108BMP4c.316T>C (p.Tyr106His)
c.241T>C (p.Tyr81His)
c.127T>C (p.Tyr43His)
c.457T>C (p.Tyr153His)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951907A>TCA389785109BMP4c.316T>A (p.Tyr106Asn)
c.241T>A (p.Tyr81Asn)
c.127T>A (p.Tyr43Asn)
c.457T>A (p.Tyr153Asn)
14g.53951908C>ACA389785110BMP4c.315G>T (p.Glu105Asp)
c.240G>T (p.Glu80Asp)
c.126G>T (p.Glu42Asp)
c.456G>T (p.Glu152Asp)
14g.53951908C=CA2137819079BMP4c.315G= (p.Glu105=)
c.240G= (p.Glu80=)
c.126G= (p.Glu42=)
c.456G= (p.Glu152=)
14g.53951908C>GCA389785111BMP4c.315G>C (p.Glu105Asp)
c.240G>C (p.Glu80Asp)
c.126G>C (p.Glu42Asp)
c.456G>C (p.Glu152Asp)
14g.53951908C>TCA7191795BMP4c.315G>A (p.Glu105=)
c.240G>A (p.Glu80=)
c.126G>A (p.Glu42=)
c.456G>A (p.Glu152=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951909T>ACA389785112BMP4c.314A>T (p.Glu105Val)
c.239A>T (p.Glu80Val)
c.125A>T (p.Glu42Val)
c.455A>T (p.Glu152Val)
14g.53951909T>CCA389785113BMP4c.314A>G (p.Glu105Gly)
c.239A>G (p.Glu80Gly)
c.125A>G (p.Glu42Gly)
c.455A>G (p.Glu152Gly)
14g.53951909T>GCA389785114BMP4c.314A>C (p.Glu105Ala)
c.239A>C (p.Glu80Ala)
c.125A>C (p.Glu42Ala)
c.455A>C (p.Glu152Ala)
14g.53951910C>ACA389785115BMP4c.313G>T (p.Glu105Ter)
c.238G>T (p.Glu80Ter)
c.124G>T (p.Glu42Ter)
c.454G>T (p.Glu152Ter)
 gnomAD v4
14g.53951910C=CA2137819084BMP4c.313G= (p.Glu105=)
c.238G= (p.Glu80=)
c.124G= (p.Glu42=)
c.454G= (p.Glu152=)
14g.53951910C>GCA389785117BMP4c.313G>C (p.Glu105Gln)
c.238G>C (p.Glu80Gln)
c.124G>C (p.Glu42Gln)
c.454G>C (p.Glu152Gln)
 gnomAD v4 COSMIC
14g.53951910C>TCA389785116BMP4c.313G>A (p.Glu105Lys)
c.238G>A (p.Glu80Lys)
c.124G>A (p.Glu42Lys)
c.454G>A (p.Glu152Lys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951911A=CA2137819086BMP4c.312T= (p.Leu104=)
c.237T= (p.Leu79=)
c.123T= (p.Leu41=)
c.453T= (p.Leu151=)
14g.53951911A>CCA7191796BMP4c.312T>G (p.Leu104=)
c.237T>G (p.Leu79=)
c.123T>G (p.Leu41=)
c.453T>G (p.Leu151=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951911A>GCA486658594BMP4c.312T>C (p.Leu104=)
c.237T>C (p.Leu79=)
c.123T>C (p.Leu41=)
c.453T>C (p.Leu151=)
14g.53951911A>TCA486658596BMP4c.312T>A (p.Leu104=)
c.237T>A (p.Leu79=)
c.123T>A (p.Leu41=)
c.453T>A (p.Leu151=)
14g.53951912A>CCA389785118BMP4c.311T>G (p.Leu104Arg)
c.236T>G (p.Leu79Arg)
c.122T>G (p.Leu41Arg)
c.452T>G (p.Leu151Arg)
14g.53951912A>GCA389785119BMP4c.311T>C (p.Leu104Pro)
c.236T>C (p.Leu79Pro)
c.122T>C (p.Leu41Pro)
c.452T>C (p.Leu151Pro)
14g.53951912A>TCA389785120BMP4c.311T>A (p.Leu104His)
c.236T>A (p.Leu79His)
c.122T>A (p.Leu41His)
c.452T>A (p.Leu151His)
14g.53951913G>ACA389785121BMP4c.310C>T (p.Leu104Phe)
c.235C>T (p.Leu79Phe)
c.121C>T (p.Leu41Phe)
c.451C>T (p.Leu151Phe)
 gnomAD v4
14g.53951913G>CCA389785122BMP4c.310C>G (p.Leu104Val)
c.235C>G (p.Leu79Val)
c.121C>G (p.Leu41Val)
c.451C>G (p.Leu151Val)
 gnomAD v4
14g.53951913G>TCA389785123BMP4c.310C>A (p.Leu104Ile)
c.235C>A (p.Leu79Ile)
c.121C>A (p.Leu41Ile)
c.451C>A (p.Leu151Ile)
 gnomAD v4
14g.53951914A=CA2137819089BMP4c.309T= (p.Gly103=)
c.234T= (p.Gly78=)
c.120T= (p.Gly40=)
c.450T= (p.Gly150=)
14g.53951914A>CCA486658602BMP4c.309T>G (p.Gly103=)
c.234T>G (p.Gly78=)
c.120T>G (p.Gly40=)
c.450T>G (p.Gly150=)
 gnomAD v4
14g.53951914A>GCA486658603BMP4c.309T>C (p.Gly103=)
c.234T>C (p.Gly78=)
c.120T>C (p.Gly40=)
c.450T>C (p.Gly150=)
 dbSNP gnomAD v2 gnomAD v4
14g.53951914A>TCA486658604BMP4c.309T>A (p.Gly103=)
c.234T>A (p.Gly78=)
c.120T>A (p.Gly40=)
c.450T>A (p.Gly150=)
14g.53951915C>ACA389785124BMP4c.308G>T (p.Gly103Val)
c.233G>T (p.Gly78Val)
c.119G>T (p.Gly40Val)
c.449G>T (p.Gly150Val)
14g.53951915C>GCA389785125BMP4c.308G>C (p.Gly103Ala)
c.233G>C (p.Gly78Ala)
c.119G>C (p.Gly40Ala)
c.449G>C (p.Gly150Ala)
14g.53951915C>TCA389785126BMP4c.308G>A (p.Gly103Asp)
c.233G>A (p.Gly78Asp)
c.119G>A (p.Gly40Asp)
c.449G>A (p.Gly150Asp)
14g.53951916C>ACA389785127BMP4c.307G>T (p.Gly103Cys)
c.232G>T (p.Gly78Cys)
c.118G>T (p.Gly40Cys)
c.448G>T (p.Gly150Cys)
14g.53951916C=CA2137819091BMP4c.307G= (p.Gly103=)
c.232G= (p.Gly78=)
c.118G= (p.Gly40=)
c.448G= (p.Gly150=)
14g.53951916C>GCA389785128BMP4c.307G>C (p.Gly103Arg)
c.232G>C (p.Gly78Arg)
c.118G>C (p.Gly40Arg)
c.448G>C (p.Gly150Arg)
14g.53951916C>TCA389785129BMP4c.307G>A (p.Gly103Ser)
c.232G>A (p.Gly78Ser)
c.118G>A (p.Gly40Ser)
c.448G>A (p.Gly150Ser)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
14g.53951917A>CCA486658611BMP4c.306T>G (p.Thr102=)
c.231T>G (p.Thr77=)
c.117T>G (p.Thr39=)
c.447T>G (p.Thr149=)
14g.53951917A>GCA486658610BMP4c.306T>C (p.Thr102=)
c.231T>C (p.Thr77=)
c.117T>C (p.Thr39=)
c.447T>C (p.Thr149=)
14g.53951917A>TCA486658609BMP4c.306T>A (p.Thr102=)
c.231T>A (p.Thr77=)
c.117T>A (p.Thr39=)
c.447T>A (p.Thr149=)
14g.53951918G>ACA7191797BMP4c.305C>T (p.Thr102Ile)
c.230C>T (p.Thr77Ile)
c.116C>T (p.Thr39Ile)
c.446C>T (p.Thr149Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951918G>CCA389785131BMP4c.305C>G (p.Thr102Ser)
c.230C>G (p.Thr77Ser)
c.116C>G (p.Thr39Ser)
c.446C>G (p.Thr149Ser)
14g.53951918G=CA2137819098BMP4c.305C= (p.Thr102=)
c.230C= (p.Thr77=)
c.116C= (p.Thr39=)
c.446C= (p.Thr149=)
14g.53951918G>TCA389785130BMP4c.305C>A (p.Thr102Asn)
c.230C>A (p.Thr77Asn)
c.116C>A (p.Thr39Asn)
c.446C>A (p.Thr149Asn)
 gnomAD v4
14g.53951919T>ACA389785132BMP4c.304A>T (p.Thr102Ser)
c.229A>T (p.Thr77Ser)
c.115A>T (p.Thr39Ser)
c.445A>T (p.Thr149Ser)
14g.53951919T>CCA7191798BMP4c.304A>G (p.Thr102Ala)
c.229A>G (p.Thr77Ala)
c.115A>G (p.Thr39Ala)
c.445A>G (p.Thr149Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951919T>GCA389785133BMP4c.304A>C (p.Thr102Pro)
c.229A>C (p.Thr77Pro)
c.115A>C (p.Thr39Pro)
c.445A>C (p.Thr149Pro)
 dbSNP gnomAD v4
14g.53951919T=CA2137819102BMP4c.304A= (p.Thr102=)
c.229A= (p.Thr77=)
c.115A= (p.Thr39=)
c.445A= (p.Thr149=)
14g.53951920G>ACA486658612BMP4c.303C>T (p.Ser101=)
c.228C>T (p.Ser76=)
c.114C>T (p.Ser38=)
c.444C>T (p.Ser148=)
 gnomAD v4
14g.53951920G>CCA389785134BMP4c.303C>G (p.Ser101Arg)
c.228C>G (p.Ser76Arg)
c.114C>G (p.Ser38Arg)
c.444C>G (p.Ser148Arg)
14g.53951920G=CA2137819107BMP4c.303C= (p.Ser101=)
c.228C= (p.Ser76=)
c.114C= (p.Ser38=)
c.444C= (p.Ser148=)
14g.53951920G>TCA389785135BMP4c.303C>A (p.Ser101Arg)
c.228C>A (p.Ser76Arg)
c.114C>A (p.Ser38Arg)
c.444C>A (p.Ser148Arg)
 dbSNP gnomAD v2 gnomAD v4
14g.53951921C>ACA389785136BMP4c.302G>T (p.Ser101Ile)
c.227G>T (p.Ser76Ile)
c.113G>T (p.Ser38Ile)
c.443G>T (p.Ser148Ile)
14g.53951921C>GCA389785137BMP4c.302G>C (p.Ser101Thr)
c.227G>C (p.Ser76Thr)
c.113G>C (p.Ser38Thr)
c.443G>C (p.Ser148Thr)
14g.53951921C>TCA389785138BMP4c.302G>A (p.Ser101Asn)
c.227G>A (p.Ser76Asn)
c.113G>A (p.Ser38Asn)
c.443G>A (p.Ser148Asn)
 gnomAD v4
14g.53951922T>ACA389785139BMP4c.301A>T (p.Ser101Cys)
c.226A>T (p.Ser76Cys)
c.112A>T (p.Ser38Cys)
c.442A>T (p.Ser148Cys)
14g.53951922T>CCA389785140BMP4c.301A>G (p.Ser101Gly)
c.226A>G (p.Ser76Gly)
c.112A>G (p.Ser38Gly)
c.442A>G (p.Ser148Gly)
14g.53951922T>GCA389785141BMP4c.301A>C (p.Ser101Arg)
c.226A>C (p.Ser76Arg)
c.112A>C (p.Ser38Arg)
c.442A>C (p.Ser148Arg)
14g.53951923G>ACA486658614BMP4c.300C>T (p.His100=)
c.225C>T (p.His75=)
c.111C>T (p.His37=)
c.441C>T (p.His147=)
 gnomAD v4
14g.53951923G>CCA389785142BMP4c.300C>G (p.His100Gln)
c.225C>G (p.His75Gln)
c.111C>G (p.His37Gln)
c.441C>G (p.His147Gln)
14g.53951923G>TCA389785143BMP4c.300C>A (p.His100Gln)
c.225C>A (p.His75Gln)
c.111C>A (p.His37Gln)
c.441C>A (p.His147Gln)
 gnomAD v4
14g.53951924T>ACA389785144BMP4c.299A>T (p.His100Leu)
c.224A>T (p.His75Leu)
c.110A>T (p.His37Leu)
c.440A>T (p.His147Leu)
14g.53951924T>CCA389785145BMP4c.299A>G (p.His100Arg)
c.224A>G (p.His75Arg)
c.110A>G (p.His37Arg)
c.440A>G (p.His147Arg)
14g.53951924T>GCA389785146BMP4c.299A>C (p.His100Pro)
c.224A>C (p.His75Pro)
c.110A>C (p.His37Pro)
c.440A>C (p.His147Pro)
14g.53951925G>ACA389785147BMP4c.298C>T (p.His100Tyr)
c.223C>T (p.His75Tyr)
c.109C>T (p.His37Tyr)
c.439C>T (p.His147Tyr)
14g.53951925G>CCA389785148BMP4c.298C>G (p.His100Asp)
c.223C>G (p.His75Asp)
c.109C>G (p.His37Asp)
c.439C>G (p.His147Asp)
14g.53951925G>TCA389785149BMP4c.298C>A (p.His100Asn)
c.223C>A (p.His75Asn)
c.109C>A (p.His37Asn)
c.439C>A (p.His147Asn)
 gnomAD v4
14g.53951926G>ACA486658622BMP4c.297C>T (p.Ile99=)
c.222C>T (p.Ile74=)
c.108C>T (p.Ile36=)
c.438C>T (p.Ile146=)
14g.53951926G>CCA389785150BMP4c.297C>G (p.Ile99Met)
c.222C>G (p.Ile74Met)
c.108C>G (p.Ile36Met)
c.438C>G (p.Ile146Met)
14g.53951926G>TCA486658625BMP4c.297C>A (p.Ile99=)
c.222C>A (p.Ile74=)
c.108C>A (p.Ile36=)
c.438C>A (p.Ile146=)
 gnomAD v4
14g.53951927A>CCA389785153BMP4c.296T>G (p.Ile99Ser)
c.221T>G (p.Ile74Ser)
c.107T>G (p.Ile36Ser)
c.437T>G (p.Ile146Ser)
14g.53951927A>GCA389785151BMP4c.296T>C (p.Ile99Thr)
c.221T>C (p.Ile74Thr)
c.107T>C (p.Ile36Thr)
c.437T>C (p.Ile146Thr)
14g.53951927A>TCA389785152BMP4c.296T>A (p.Ile99Asn)
c.221T>A (p.Ile74Asn)
c.107T>A (p.Ile36Asn)
c.437T>A (p.Ile146Asn)
14g.53951928T>ACA389785154BMP4c.295A>T (p.Ile99Phe)
c.220A>T (p.Ile74Phe)
c.106A>T (p.Ile36Phe)
c.436A>T (p.Ile146Phe)
 dbSNP gnomAD v3 gnomAD v4
14g.53951928T>CCA389785155BMP4c.295A>G (p.Ile99Val)
c.220A>G (p.Ile74Val)
c.106A>G (p.Ile36Val)
c.436A>G (p.Ile146Val)
 ClinVar dbSNP gnomAD v4
14g.53951928T>GCA389785156BMP4c.295A>C (p.Ile99Leu)
c.220A>C (p.Ile74Leu)
c.106A>C (p.Ile36Leu)
c.436A>C (p.Ile146Leu)
14g.53951928T=CA2137819112BMP4c.295A= (p.Ile99=)
c.220A= (p.Ile74=)
c.106A= (p.Ile36=)
c.436A= (p.Ile146=)
14g.53951929_53951930delCA2729800166BMP4c.294_295del (p.Gln98HisfsTer7)
c.219_220del (p.Gln73HisfsTer7)
c.105_106del (p.Gln35HisfsTer7)
c.435_436del (p.Gln145HisfsTer7)
 dbSNP
14g.53951929C>ACA389785157BMP4c.294G>T (p.Gln98His)
c.219G>T (p.Gln73His)
c.105G>T (p.Gln35His)
c.435G>T (p.Gln145His)
14g.53951929C>GCA389785158BMP4c.294G>C (p.Gln98His)
c.219G>C (p.Gln73His)
c.105G>C (p.Gln35His)
c.435G>C (p.Gln145His)
14g.53951929C>TCA486658627BMP4c.294G>A (p.Gln98=)
c.219G>A (p.Gln73=)
c.105G>A (p.Gln35=)
c.435G>A (p.Gln145=)
14g.53951930T>ACA389785159BMP4c.293A>T (p.Gln98Leu)
c.218A>T (p.Gln73Leu)
c.104A>T (p.Gln35Leu)
c.434A>T (p.Gln145Leu)
14g.53951930T>CCA389785161BMP4c.293A>G (p.Gln98Arg)
c.218A>G (p.Gln73Arg)
c.104A>G (p.Gln35Arg)
c.434A>G (p.Gln145Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v4
14g.53951930T>GCA389785160BMP4c.293A>C (p.Gln98Pro)
c.218A>C (p.Gln73Pro)
c.104A>C (p.Gln35Pro)
c.434A>C (p.Gln145Pro)
14g.53951930T=CA2137819115BMP4c.293A= (p.Gln98=)
c.218A= (p.Gln73=)
c.104A= (p.Gln35=)
c.434A= (p.Gln145=)
14g.53951931G>ACA389785162BMP4c.292C>T (p.Gln98Ter)
c.217C>T (p.Gln73Ter)
c.103C>T (p.Gln35Ter)
c.433C>T (p.Gln145Ter)
14g.53951931G>CCA389785163BMP4c.292C>G (p.Gln98Glu)
c.217C>G (p.Gln73Glu)
c.103C>G (p.Gln35Glu)
c.433C>G (p.Gln145Glu)
 gnomAD v4
14g.53951931G>TCA389785164BMP4c.292C>A (p.Gln98Lys)
c.217C>A (p.Gln73Lys)
c.103C>A (p.Gln35Lys)
c.433C>A (p.Gln145Lys)
 gnomAD v4
14g.53951932C>ACA389785165BMP4c.291G>T (p.Glu97Asp)
c.216G>T (p.Glu72Asp)
c.102G>T (p.Glu34Asp)
c.432G>T (p.Glu144Asp)
14g.53951932C=CA2137819119BMP4c.291G= (p.Glu97=)
c.216G= (p.Glu72=)
c.102G= (p.Glu34=)
c.432G= (p.Glu144=)
14g.53951932C>GCA389785166BMP4c.291G>C (p.Glu97Asp)
c.216G>C (p.Glu72Asp)
c.102G>C (p.Glu34Asp)
c.432G>C (p.Glu144Asp)
 dbSNP
14g.53951932C>TCA486658631BMP4c.291G>A (p.Glu97=)
c.216G>A (p.Glu72=)
c.102G>A (p.Glu34=)
c.432G>A (p.Glu144=)
 ClinVar dbSNP
14g.53951933T>ACA389785167BMP4c.290A>T (p.Glu97Val)
c.215A>T (p.Glu72Val)
c.101A>T (p.Glu34Val)
c.431A>T (p.Glu144Val)
14g.53951933T>CCA389785168BMP4c.290A>G (p.Glu97Gly)
c.215A>G (p.Glu72Gly)
c.101A>G (p.Glu34Gly)
c.431A>G (p.Glu144Gly)
 gnomAD v4
14g.53951933T>GCA389785169BMP4c.290A>C (p.Glu97Ala)
c.215A>C (p.Glu72Ala)
c.101A>C (p.Glu34Ala)
c.431A>C (p.Glu144Ala)
14g.53951935_53951937dupCA2801617670BMP4c.288_290dup (p.Glu97_Gln98insGlu)
c.213_215dup (p.Glu72_Gln73insGlu)
c.99_101dup (p.Glu34_Gln35insGlu)
c.429_431dup (p.Glu144_Gln145insGlu)
14g.53951934C>ACA389785170BMP4c.289G>T (p.Glu97Ter)
c.214G>T (p.Glu72Ter)
c.100G>T (p.Glu34Ter)
c.430G>T (p.Glu144Ter)
14g.53951934C=CA2137819123BMP4c.289G= (p.Glu97=)
c.214G= (p.Glu72=)
c.100G= (p.Glu34=)
c.430G= (p.Glu144=)
14g.53951934C>GCA389785171BMP4c.289G>C (p.Glu97Gln)
c.214G>C (p.Glu72Gln)
c.100G>C (p.Glu34Gln)
c.430G>C (p.Glu144Gln)
14g.53951934C>TCA389785172BMP4c.289G>A (p.Glu97Lys)
c.214G>A (p.Glu72Lys)
c.100G>A (p.Glu34Lys)
c.430G>A (p.Glu144Lys)
 dbSNP gnomAD v4
14g.53951935T>ACA389785173BMP4c.288A>T (p.Glu96Asp)
c.213A>T (p.Glu71Asp)
c.99A>T (p.Glu33Asp)
c.429A>T (p.Glu143Asp)
14g.53951935T>CCA10644280BMP4c.288A>G (p.Glu96=)
c.213A>G (p.Glu71=)
c.99A>G (p.Glu33=)
c.429A>G (p.Glu143=)
 ClinVar dbSNP gnomAD v4
14g.53951935T>GCA389785174BMP4c.288A>C (p.Glu96Asp)
c.213A>C (p.Glu71Asp)
c.99A>C (p.Glu33Asp)
c.429A>C (p.Glu143Asp)
14g.53951935T=CA2137819129BMP4c.288A= (p.Glu96=)
c.213A= (p.Glu71=)
c.99A= (p.Glu33=)
c.429A= (p.Glu143=)
14g.53951935_53951938delinsTTCCCA2137819127BMP4c.285_288delinsGGAA (p.Glu95=)
c.210_213delinsGGAA (p.Glu70=)
c.96_99delinsGGAA (p.Glu32=)
c.426_429delinsGGAA (p.Glu142=)
14g.53951936T>ACA389785175BMP4c.287A>T (p.Glu96Val)
c.212A>T (p.Glu71Val)
c.98A>T (p.Glu33Val)
c.428A>T (p.Glu143Val)
14g.53951936T>CCA389785176BMP4c.287A>G (p.Glu96Gly)
c.212A>G (p.Glu71Gly)
c.98A>G (p.Glu33Gly)
c.428A>G (p.Glu143Gly)
14g.53951936T>GCA389785177BMP4c.287A>C (p.Glu96Ala)
c.212A>C (p.Glu71Ala)
c.98A>C (p.Glu33Ala)
c.428A>C (p.Glu143Ala)
 dbSNP gnomAD v3 gnomAD v4
14g.53951936T=CA2137819133BMP4c.287A= (p.Glu96=)
c.212A= (p.Glu71=)
c.98A= (p.Glu33=)
c.428A= (p.Glu143=)
14g.53951945_53951947delCA614278114BMP4c.285_287del (p.Glu96del)
c.210_212del (p.Glu71del)
c.96_98del (p.Glu33del)
c.426_428del (p.Glu143del)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951937C>ACA389785178BMP4c.286G>T (p.Glu96Ter)
c.211G>T (p.Glu71Ter)
c.97G>T (p.Glu33Ter)
c.427G>T (p.Glu143Ter)
14g.53951937C=CA2137819144BMP4c.286G= (p.Glu96=)
c.211G= (p.Glu71=)
c.97G= (p.Glu33=)
c.427G= (p.Glu143=)
14g.53951937C>GCA389785179BMP4c.286G>C (p.Glu96Gln)
c.211G>C (p.Glu71Gln)
c.97G>C (p.Glu33Gln)
c.427G>C (p.Glu143Gln)
14g.53951937C>TCA389785180BMP4c.286G>A (p.Glu96Lys)
c.211G>A (p.Glu71Lys)
c.97G>A (p.Glu33Lys)
c.427G>A (p.Glu143Lys)
 dbSNP gnomAD v2 gnomAD v4
14g.53951938C>ACA389785181BMP4c.285G>T (p.Glu95Asp)
c.210G>T (p.Glu70Asp)
c.96G>T (p.Glu32Asp)
c.426G>T (p.Glu142Asp)
14g.53951938C>GCA389785182BMP4c.285G>C (p.Glu95Asp)
c.210G>C (p.Glu70Asp)
c.96G>C (p.Glu32Asp)
c.426G>C (p.Glu142Asp)
14g.53951938C>TCA486658633BMP4c.285G>A (p.Glu95=)
c.210G>A (p.Glu70=)
c.96G>A (p.Glu32=)
c.426G>A (p.Glu142=)
 gnomAD v4
14g.53951939T>ACA389785183BMP4c.284A>T (p.Glu95Val)
c.209A>T (p.Glu70Val)
c.95A>T (p.Glu32Val)
c.425A>T (p.Glu142Val)
14g.53951939T>CCA389785184BMP4c.284A>G (p.Glu95Gly)
c.209A>G (p.Glu70Gly)
c.95A>G (p.Glu32Gly)
c.425A>G (p.Glu142Gly)
 dbSNP
14g.53951939T>GCA389785185BMP4c.284A>C (p.Glu95Ala)
c.209A>C (p.Glu70Ala)
c.95A>C (p.Glu32Ala)
c.425A>C (p.Glu142Ala)
14g.53951939T=CA2137819147BMP4c.284A= (p.Glu95=)
c.209A= (p.Glu70=)
c.95A= (p.Glu32=)
c.425A= (p.Glu142=)
14g.53951940_53951941insTTCCA2575530840BMP4c.284_285insAGA (p.Glu95_Glu96insGlu)
c.209_210insAGA (p.Glu70_Glu71insGlu)
c.95_96insAGA (p.Glu32_Glu33insGlu)
c.425_426insAGA (p.Glu142_Glu143insGlu)
14g.53951940C>ACA389785188BMP4c.283G>T (p.Glu95Ter)
c.208G>T (p.Glu70Ter)
c.94G>T (p.Glu32Ter)
c.424G>T (p.Glu142Ter)
14g.53951940C=CA2137819149BMP4c.283G= (p.Glu95=)
c.208G= (p.Glu70=)
c.94G= (p.Glu32=)
c.424G= (p.Glu142=)
14g.53951940C>GCA389785187BMP4c.283G>C (p.Glu95Gln)
c.208G>C (p.Glu70Gln)
c.94G>C (p.Glu32Gln)
c.424G>C (p.Glu142Gln)
14g.53951940C>TCA389785186BMP4c.283G>A (p.Glu95Lys)
c.208G>A (p.Glu70Lys)
c.94G>A (p.Glu32Lys)
c.424G>A (p.Glu142Lys)
 dbSNP gnomAD v2
14g.53951941C>ACA389785189BMP4c.282G>T (p.Glu94Asp)
c.207G>T (p.Glu69Asp)
c.93G>T (p.Glu31Asp)
c.423G>T (p.Glu141Asp)
14g.53951941C>GCA389785190BMP4c.282G>C (p.Glu94Asp)
c.207G>C (p.Glu69Asp)
c.93G>C (p.Glu31Asp)
c.423G>C (p.Glu141Asp)
14g.53951941C>TCA486658637BMP4c.282G>A (p.Glu94=)
c.207G>A (p.Glu69=)
c.93G>A (p.Glu31=)
c.423G>A (p.Glu141=)
14g.53951942T>ACA389785191BMP4c.281A>T (p.Glu94Val)
c.206A>T (p.Glu69Val)
c.92A>T (p.Glu31Val)
c.422A>T (p.Glu141Val)
14g.53951942T>CCA389785192BMP4c.281A>G (p.Glu94Gly)
c.206A>G (p.Glu69Gly)
c.92A>G (p.Glu31Gly)
c.422A>G (p.Glu141Gly)
 gnomAD v4
14g.53951942T>GCA389785193BMP4c.281A>C (p.Glu94Ala)
c.206A>C (p.Glu69Ala)
c.92A>C (p.Glu31Ala)
c.422A>C (p.Glu141Ala)
14g.53951943C>ACA389785194BMP4c.280G>T (p.Glu94Ter)
c.205G>T (p.Glu69Ter)
c.91G>T (p.Glu31Ter)
c.421G>T (p.Glu141Ter)
14g.53951943C=CA2137819152BMP4c.280G= (p.Glu94=)
c.205G= (p.Glu69=)
c.91G= (p.Glu31=)
c.421G= (p.Glu141=)
14g.53951943C>GCA389785195BMP4c.280G>C (p.Glu94Gln)
c.205G>C (p.Glu69Gln)
c.91G>C (p.Glu31Gln)
c.421G>C (p.Glu141Gln)
 dbSNP gnomAD v4
14g.53951943C>TCA389785196BMP4c.280G>A (p.Glu94Lys)
c.205G>A (p.Glu69Lys)
c.91G>A (p.Glu31Lys)
c.421G>A (p.Glu141Lys)
 ClinVar gnomAD v4
14g.53951944C>ACA389785197BMP4c.279G>T (p.Glu93Asp)
c.204G>T (p.Glu68Asp)
c.90G>T (p.Glu30Asp)
c.420G>T (p.Glu140Asp)
14g.53951944C>GCA389785198BMP4c.279G>C (p.Glu93Asp)
c.204G>C (p.Glu68Asp)
c.90G>C (p.Glu30Asp)
c.420G>C (p.Glu140Asp)
14g.53951944C>TCA486658645BMP4c.279G>A (p.Glu93=)
c.204G>A (p.Glu68=)
c.90G>A (p.Glu30=)
c.420G>A (p.Glu140=)
14g.53951945T>ACA389785199BMP4c.278A>T (p.Glu93Val)
c.203A>T (p.Glu68Val)
c.89A>T (p.Glu30Val)
c.419A>T (p.Glu140Val)
14g.53951945T>CCA258061BMP4c.278A>G (p.Glu93Gly)
c.203A>G (p.Glu68Gly)
c.89A>G (p.Glu30Gly)
c.419A>G (p.Glu140Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951945T>GCA389785200BMP4c.278A>C (p.Glu93Ala)
c.203A>C (p.Glu68Ala)
c.89A>C (p.Glu30Ala)
c.419A>C (p.Glu140Ala)
14g.53951945T=CA2137819156BMP4c.278A= (p.Glu93=)
c.203A= (p.Glu68=)
c.89A= (p.Glu30=)
c.419A= (p.Glu140=)
14g.53951946C>ACA389785202BMP4c.277G>T (p.Glu93Ter)
c.202G>T (p.Glu68Ter)
c.88G>T (p.Glu30Ter)
c.418G>T (p.Glu140Ter)
 ClinVar
14g.53951946C>GCA389785203BMP4c.277G>C (p.Glu93Gln)
c.202G>C (p.Glu68Gln)
c.88G>C (p.Glu30Gln)
c.418G>C (p.Glu140Gln)
 gnomAD v4
14g.53951946C>TCA389785201BMP4c.277G>A (p.Glu93Lys)
c.202G>A (p.Glu68Lys)
c.88G>A (p.Glu30Lys)
c.418G>A (p.Glu140Lys)
 gnomAD v4
14g.53951949delCA2624918606BMP4c.277del (p.Glu93ArgfsTer25)
c.202del (p.Glu68ArgfsTer25)
c.88del (p.Glu30ArgfsTer25)
c.277del (p.Glu93ArgfsTer?)
c.418del (p.Glu140ArgfsTer25)
 gnomAD v4
14g.53951947C>ACA486658649BMP4c.276G>T (p.Gly92=)
c.201G>T (p.Gly67=)
c.87G>T (p.Gly29=)
c.417G>T (p.Gly139=)
14g.53951947C=CA2137819160BMP4c.276G= (p.Gly92=)
c.201G= (p.Gly67=)
c.87G= (p.Gly29=)
c.417G= (p.Gly139=)
14g.53951947C>GCA486658650BMP4c.276G>C (p.Gly92=)
c.201G>C (p.Gly67=)
c.87G>C (p.Gly29=)
c.417G>C (p.Gly139=)
14g.53951947C>TCA7191799BMP4c.276G>A (p.Gly92=)
c.201G>A (p.Gly67=)
c.87G>A (p.Gly29=)
c.417G>A (p.Gly139=)
 dbSNP ExAC gnomAD v2
14g.53951948C>ACA389785204BMP4c.275G>T (p.Gly92Val)
c.200G>T (p.Gly67Val)
c.86G>T (p.Gly29Val)
c.416G>T (p.Gly139Val)
 gnomAD v4
14g.53951948C>GCA389785205BMP4c.275G>C (p.Gly92Ala)
c.200G>C (p.Gly67Ala)
c.86G>C (p.Gly29Ala)
c.416G>C (p.Gly139Ala)
 gnomAD v4
14g.53951948C>TCA389785206BMP4c.275G>A (p.Gly92Glu)
c.200G>A (p.Gly67Glu)
c.86G>A (p.Gly29Glu)
c.416G>A (p.Gly139Glu)
14g.53951949C>ACA389785207BMP4c.274G>T (p.Gly92Trp)
c.199G>T (p.Gly67Trp)
c.85G>T (p.Gly29Trp)
c.415G>T (p.Gly139Trp)
14g.53951949C>GCA389785208BMP4c.274G>C (p.Gly92Arg)
c.199G>C (p.Gly67Arg)
c.85G>C (p.Gly29Arg)
c.415G>C (p.Gly139Arg)
14g.53951949C>TCA389785209BMP4c.274G>A (p.Gly92Arg)
c.199G>A (p.Gly67Arg)
c.85G>A (p.Gly29Arg)
c.415G>A (p.Gly139Arg)
14g.53951950A>CCA486658657BMP4c.273T>G (p.Ser91=)
c.198T>G (p.Ser66=)
c.84T>G (p.Ser28=)
c.414T>G (p.Ser138=)
14g.53951950A>GCA486658658BMP4c.273T>C (p.Ser91=)
c.198T>C (p.Ser66=)
c.84T>C (p.Ser28=)
c.414T>C (p.Ser138=)
 gnomAD v4
14g.53951950A>TCA486658659BMP4c.273T>A (p.Ser91=)
c.198T>A (p.Ser66=)
c.84T>A (p.Ser28=)
c.414T>A (p.Ser138=)
14g.53951951G>ACA389785211BMP4c.272C>T (p.Ser91Phe)
c.197C>T (p.Ser66Phe)
c.83C>T (p.Ser28Phe)
c.413C>T (p.Ser138Phe)
14g.53951951G>CCA127330BMP4c.272C>G (p.Ser91Cys)
c.197C>G (p.Ser66Cys)
c.83C>G (p.Ser28Cys)
c.413C>G (p.Ser138Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951951G=CA2137819164BMP4c.272C= (p.Ser91=)
c.197C= (p.Ser66=)
c.83C= (p.Ser28=)
c.413C= (p.Ser138=)
14g.53951951G>TCA389785210BMP4c.272C>A (p.Ser91Tyr)
c.197C>A (p.Ser66Tyr)
c.83C>A (p.Ser28Tyr)
c.413C>A (p.Ser138Tyr)
 gnomAD v4
14g.53951952A>CCA389785212BMP4c.271T>G (p.Ser91Ala)
c.196T>G (p.Ser66Ala)
c.82T>G (p.Ser28Ala)
c.412T>G (p.Ser138Ala)
14g.53951952A>GCA389785213BMP4c.271T>C (p.Ser91Pro)
c.196T>C (p.Ser66Pro)
c.82T>C (p.Ser28Pro)
c.412T>C (p.Ser138Pro)
 gnomAD v4
14g.53951952A>TCA389785214BMP4c.271T>A (p.Ser91Thr)
c.196T>A (p.Ser66Thr)
c.82T>A (p.Ser28Thr)
c.412T>A (p.Ser138Thr)
14g.53951952_53951953insGACACCATGATTCCTGGTAACCGAATGCTGATGGTCGTTTTATTATGCCAAGTCCA2624918607BMP4c.270_271insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
c.195_196insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
c.81_82insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
c.411_412insGACTTGGCATAATAAAACGACCATCAGCATTCGGTTACCAGGAATCATGGTGTC
 gnomAD v4
14g.53951953C>ACA389785215BMP4c.270G>T (p.Gln90His)
c.195G>T (p.Gln65His)
c.81G>T (p.Gln27His)
c.411G>T (p.Gln137His)
14g.53951953C>GCA389785216BMP4c.270G>C (p.Gln90His)
c.195G>C (p.Gln65His)
c.81G>C (p.Gln27His)
c.411G>C (p.Gln137His)
14g.53951953C>TCA486658666BMP4c.270G>A (p.Gln90=)
c.195G>A (p.Gln65=)
c.81G>A (p.Gln27=)
c.411G>A (p.Gln137=)
 gnomAD v4
14g.53951954T>ACA389785217BMP4c.269A>T (p.Gln90Leu)
c.194A>T (p.Gln65Leu)
c.80A>T (p.Gln27Leu)
c.410A>T (p.Gln137Leu)
14g.53951954T>CCA389785219BMP4c.269A>G (p.Gln90Arg)
c.194A>G (p.Gln65Arg)
c.80A>G (p.Gln27Arg)
c.410A>G (p.Gln137Arg)
 gnomAD v4
14g.53951954T>GCA389785218BMP4c.269A>C (p.Gln90Pro)
c.194A>C (p.Gln65Pro)
c.80A>C (p.Gln27Pro)
c.410A>C (p.Gln137Pro)
14g.53951955G>ACA261472781BMP4c.268C>T (p.Gln90Ter)
c.193C>T (p.Gln65Ter)
c.79C>T (p.Gln27Ter)
c.409C>T (p.Gln137Ter)
 dbSNP
14g.53951955G>CCA389785220BMP4c.268C>G (p.Gln90Glu)
c.193C>G (p.Gln65Glu)
c.79C>G (p.Gln27Glu)
c.409C>G (p.Gln137Glu)
14g.53951955G=CA2137819170BMP4c.268C= (p.Gln90=)
c.193C= (p.Gln65=)
c.79C= (p.Gln27=)
c.409C= (p.Gln137=)
14g.53951955G>TCA389785221BMP4c.268C>A (p.Gln90Lys)
c.193C>A (p.Gln65Lys)
c.79C>A (p.Gln27Lys)
c.409C>A (p.Gln137Lys)
14g.53951956A>CCA486658671BMP4c.267T>G (p.Leu89=)
c.192T>G (p.Leu64=)
c.78T>G (p.Leu26=)
c.408T>G (p.Leu136=)
14g.53951956A>GCA486658672BMP4c.267T>C (p.Leu89=)
c.192T>C (p.Leu64=)
c.78T>C (p.Leu26=)
c.408T>C (p.Leu136=)
14g.53951956A>TCA486658673BMP4c.267T>A (p.Leu89=)
c.192T>A (p.Leu64=)
c.78T>A (p.Leu26=)
c.408T>A (p.Leu136=)
14g.53951957delCA2624918608BMP4c.267del (p.Gln90SerfsTer28)
c.192del (p.Gln65SerfsTer28)
c.78del (p.Gln27SerfsTer28)
c.267del (p.Gln90SerfsTer?)
c.408del (p.Gln137SerfsTer28)
 gnomAD v4
14g.53951957A>CCA389785222BMP4c.266T>G (p.Leu89Arg)
c.191T>G (p.Leu64Arg)
c.77T>G (p.Leu26Arg)
c.407T>G (p.Leu136Arg)
14g.53951957A>GCA389785223BMP4c.266T>C (p.Leu89Pro)
c.191T>C (p.Leu64Pro)
c.77T>C (p.Leu26Pro)
c.407T>C (p.Leu136Pro)
14g.53951957A>TCA389785224BMP4c.266T>A (p.Leu89His)
c.191T>A (p.Leu64His)
c.77T>A (p.Leu26His)
c.407T>A (p.Leu136His)
14g.53951958G>ACA261472782BMP4c.265C>T (p.Leu89Phe)
c.190C>T (p.Leu64Phe)
c.76C>T (p.Leu26Phe)
c.406C>T (p.Leu136Phe)
 dbSNP gnomAD v3 gnomAD v4
14g.53951958G>CCA389785225BMP4c.265C>G (p.Leu89Val)
c.190C>G (p.Leu64Val)
c.76C>G (p.Leu26Val)
c.406C>G (p.Leu136Val)
14g.53951958G=CA2137819172BMP4c.265C= (p.Leu89=)
c.190C= (p.Leu64=)
c.76C= (p.Leu26=)
c.406C= (p.Leu136=)
14g.53951958G>TCA389785226BMP4c.265C>A (p.Leu89Ile)
c.190C>A (p.Leu64Ile)
c.76C>A (p.Leu26Ile)
c.406C>A (p.Leu136Ile)
14g.53951959C>ACA7191800BMP4c.264G>T (p.Arg88=)
c.189G>T (p.Arg63=)
c.75G>T (p.Arg25=)
c.405G>T (p.Arg135=)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951959C=CA2137819176BMP4c.264G= (p.Arg88=)
c.189G= (p.Arg63=)
c.75G= (p.Arg25=)
c.405G= (p.Arg135=)
14g.53951959C>GCA486658679BMP4c.264G>C (p.Arg88=)
c.189G>C (p.Arg63=)
c.75G>C (p.Arg25=)
c.405G>C (p.Arg135=)
 dbSNP gnomAD v3 gnomAD v4
14g.53951959C>TCA7191801BMP4c.264G>A (p.Arg88=)
c.189G>A (p.Arg63=)
c.75G>A (p.Arg25=)
c.405G>A (p.Arg135=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951960C>ACA389785229BMP4c.263G>T (p.Arg88Leu)
c.188G>T (p.Arg63Leu)
c.74G>T (p.Arg25Leu)
c.404G>T (p.Arg135Leu)
14g.53951960C>GCA389785228BMP4c.263G>C (p.Arg88Pro)
c.188G>C (p.Arg63Pro)
c.74G>C (p.Arg25Pro)
c.404G>C (p.Arg135Pro)
14g.53951960C>TCA389785227BMP4c.263G>A (p.Arg88Gln)
c.188G>A (p.Arg63Gln)
c.74G>A (p.Arg25Gln)
c.404G>A (p.Arg135Gln)
 gnomAD v4
14g.53951961G>ACA389785231BMP4c.262C>T (p.Arg88Trp)
c.187C>T (p.Arg63Trp)
c.73C>T (p.Arg25Trp)
c.403C>T (p.Arg135Trp)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951961G>CCA389785230BMP4c.262C>G (p.Arg88Gly)
c.187C>G (p.Arg63Gly)
c.73C>G (p.Arg25Gly)
c.403C>G (p.Arg135Gly)
14g.53951961G=CA2137819179BMP4c.262C= (p.Arg88=)
c.187C= (p.Arg63=)
c.73C= (p.Arg25=)
c.403C= (p.Arg135=)
14g.53951961G>TCA486658680BMP4c.262C>A (p.Arg88=)
c.187C>A (p.Arg63=)
c.73C>A (p.Arg25=)
c.403C>A (p.Arg135=)
14g.53951962G>ACA486658682BMP4c.261C>T (p.Tyr87=)
c.186C>T (p.Tyr62=)
c.72C>T (p.Tyr24=)
c.402C>T (p.Tyr134=)
 gnomAD v4
14g.53951962G>CCA389785232BMP4c.261C>G (p.Tyr87Ter)
c.186C>G (p.Tyr62Ter)
c.72C>G (p.Tyr24Ter)
c.402C>G (p.Tyr134Ter)
14g.53951962G>TCA389785233BMP4c.261C>A (p.Tyr87Ter)
c.186C>A (p.Tyr62Ter)
c.72C>A (p.Tyr24Ter)
c.402C>A (p.Tyr134Ter)
14g.53951963T>ACA7191802BMP4c.260A>T (p.Tyr87Phe)
c.185A>T (p.Tyr62Phe)
c.71A>T (p.Tyr24Phe)
c.401A>T (p.Tyr134Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
14g.53951963T>CCA389785234BMP4c.260A>G (p.Tyr87Cys)
c.185A>G (p.Tyr62Cys)
c.71A>G (p.Tyr24Cys)
c.401A>G (p.Tyr134Cys)
14g.53951963T>GCA389785235BMP4c.260A>C (p.Tyr87Ser)
c.185A>C (p.Tyr62Ser)
c.71A>C (p.Tyr24Ser)
c.401A>C (p.Tyr134Ser)
14g.53951963T=CA2137819183BMP4c.260A= (p.Tyr87=)
c.185A= (p.Tyr62=)
c.71A= (p.Tyr24=)
c.401A= (p.Tyr134=)
14g.53951964A=CA2137819187BMP4c.259T= (p.Tyr87=)
c.184T= (p.Tyr62=)
c.70T= (p.Tyr24=)
c.400T= (p.Tyr134=)
14g.53951964A>CCA389785236BMP4c.259T>G (p.Tyr87Asp)
c.184T>G (p.Tyr62Asp)
c.70T>G (p.Tyr24Asp)
c.400T>G (p.Tyr134Asp)
14g.53951964A>GCA389785237BMP4c.259T>C (p.Tyr87His)
c.184T>C (p.Tyr62His)
c.70T>C (p.Tyr24His)
c.400T>C (p.Tyr134His)
 dbSNP
14g.53951964A>TCA389785238BMP4c.259T>A (p.Tyr87Asn)
c.184T>A (p.Tyr62Asn)
c.70T>A (p.Tyr24Asn)
c.400T>A (p.Tyr134Asn)
14g.53951965A>CCA486658686BMP4c.258T>G (p.Leu86=)
c.183T>G (p.Leu61=)
c.69T>G (p.Leu23=)
c.399T>G (p.Leu133=)
14g.53951965A>GCA486658688BMP4c.258T>C (p.Leu86=)
c.183T>C (p.Leu61=)
c.69T>C (p.Leu23=)
c.399T>C (p.Leu133=)
14g.53951965A>TCA486658687BMP4c.258T>A (p.Leu86=)
c.183T>A (p.Leu61=)
c.69T>A (p.Leu23=)
c.399T>A (p.Leu133=)
14g.53951966A>CCA389785239BMP4c.257T>G (p.Leu86Arg)
c.182T>G (p.Leu61Arg)
c.68T>G (p.Leu23Arg)
c.398T>G (p.Leu133Arg)
14g.53951966A>GCA389785240BMP4c.257T>C (p.Leu86Pro)
c.182T>C (p.Leu61Pro)
c.68T>C (p.Leu23Pro)
c.398T>C (p.Leu133Pro)
14g.53951966A>TCA389785241BMP4c.257T>A (p.Leu86His)
c.182T>A (p.Leu61His)
c.68T>A (p.Leu23His)
c.398T>A (p.Leu133His)
14g.53951967G>ACA389785242BMP4c.256C>T (p.Leu86Phe)
c.181C>T (p.Leu61Phe)
c.67C>T (p.Leu23Phe)
c.397C>T (p.Leu133Phe)
14g.53951967G>CCA389785243BMP4c.256C>G (p.Leu86Val)
c.181C>G (p.Leu61Val)
c.67C>G (p.Leu23Val)
c.397C>G (p.Leu133Val)
14g.53951967G=CA2137819192BMP4c.256C= (p.Leu86=)
c.181C= (p.Leu61=)
c.67C= (p.Leu23=)
c.397C= (p.Leu133=)
14g.53951967G>TCA7191803BMP4c.256C>A (p.Leu86Ile)
c.181C>A (p.Leu61Ile)
c.67C>A (p.Leu23Ile)
c.397C>A (p.Leu133Ile)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951968A>CCA389785244BMP4c.255T>G (p.Asp85Glu)
c.180T>G (p.Asp60Glu)
c.66T>G (p.Asp22Glu)
c.396T>G (p.Asp132Glu)
14g.53951968A>GCA486658693BMP4c.255T>C (p.Asp85=)
c.180T>C (p.Asp60=)
c.66T>C (p.Asp22=)
c.396T>C (p.Asp132=)
 gnomAD v4
14g.53951968A>TCA389785245BMP4c.255T>A (p.Asp85Glu)
c.180T>A (p.Asp60Glu)
c.66T>A (p.Asp22Glu)
c.396T>A (p.Asp132Glu)
14g.53951969T>ACA389785246BMP4c.254A>T (p.Asp85Val)
c.179A>T (p.Asp60Val)
c.65A>T (p.Asp22Val)
c.395A>T (p.Asp132Val)
 dbSNP
14g.53951969T>CCA389785247BMP4c.254A>G (p.Asp85Gly)
c.179A>G (p.Asp60Gly)
c.65A>G (p.Asp22Gly)
c.395A>G (p.Asp132Gly)
 gnomAD v4
14g.53951969T>GCA389785248BMP4c.254A>C (p.Asp85Ala)
c.179A>C (p.Asp60Ala)
c.65A>C (p.Asp22Ala)
c.395A>C (p.Asp132Ala)
14g.53951970C>ACA389785251BMP4c.253G>T (p.Asp85Tyr)
c.178G>T (p.Asp60Tyr)
c.64G>T (p.Asp22Tyr)
c.394G>T (p.Asp132Tyr)
 gnomAD v4
14g.53951970C>GCA389785249BMP4c.253G>C (p.Asp85His)
c.178G>C (p.Asp60His)
c.64G>C (p.Asp22His)
c.394G>C (p.Asp132His)
14g.53951970C>TCA389785250BMP4c.253G>A (p.Asp85Asn)
c.178G>A (p.Asp60Asn)
c.64G>A (p.Asp22Asn)
c.394G>A (p.Asp132Asn)
14g.53951971C>ACA486658696BMP4c.252G>T (p.Arg84=)
c.177G>T (p.Arg59=)
c.63G>T (p.Arg21=)
c.393G>T (p.Arg131=)
 gnomAD v4
14g.53951971C=CA2137819197BMP4c.252G= (p.Arg84=)
c.177G= (p.Arg59=)
c.63G= (p.Arg21=)
c.393G= (p.Arg131=)
14g.53951971C>GCA486658698BMP4c.252G>C (p.Arg84=)
c.177G>C (p.Arg59=)
c.63G>C (p.Arg21=)
c.393G>C (p.Arg131=)
14g.53951971C>TCA7191804BMP4c.252G>A (p.Arg84=)
c.177G>A (p.Arg59=)
c.63G>A (p.Arg21=)
c.393G>A (p.Arg131=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951972C>ACA389785252BMP4c.251G>T (p.Arg84Leu)
c.176G>T (p.Arg59Leu)
c.62G>T (p.Arg21Leu)
c.392G>T (p.Arg131Leu)
 COSMIC
14g.53951972C>GCA389785253BMP4c.251G>C (p.Arg84Pro)
c.176G>C (p.Arg59Pro)
c.62G>C (p.Arg21Pro)
c.392G>C (p.Arg131Pro)
14g.53951972C>TCA389785254BMP4c.251G>A (p.Arg84Gln)
c.176G>A (p.Arg59Gln)
c.62G>A (p.Arg21Gln)
c.392G>A (p.Arg131Gln)
 ClinVar
14g.53951973G>ACA389785255BMP4c.250C>T (p.Arg84Trp)
c.175C>T (p.Arg59Trp)
c.61C>T (p.Arg21Trp)
c.391C>T (p.Arg131Trp)
 ClinVar dbSNP gnomAD v4
14g.53951973G>CCA389785256BMP4c.250C>G (p.Arg84Gly)
c.175C>G (p.Arg59Gly)
c.61C>G (p.Arg21Gly)
c.391C>G (p.Arg131Gly)
14g.53951973G=CA2137819203BMP4c.250C= (p.Arg84=)
c.175C= (p.Arg59=)
c.61C= (p.Arg21=)
c.391C= (p.Arg131=)
14g.53951973G>TCA486658700BMP4c.250C>A (p.Arg84=)
c.175C>A (p.Arg59=)
c.61C>A (p.Arg21=)
c.391C>A (p.Arg131=)
 dbSNP gnomAD v4
14g.53951974C>ACA389785258BMP4c.249G>T (p.Met83Ile)
c.174G>T (p.Met58Ile)
c.60G>T (p.Met20Ile)
c.390G>T (p.Met130Ile)
14g.53951974C>GCA389785259BMP4c.249G>C (p.Met83Ile)
c.174G>C (p.Met58Ile)
c.60G>C (p.Met20Ile)
c.390G>C (p.Met130Ile)
14g.53951974C>TCA389785257BMP4c.249G>A (p.Met83Ile)
c.174G>A (p.Met58Ile)
c.60G>A (p.Met20Ile)
c.390G>A (p.Met130Ile)
14g.53951974_53951991dupCA614278115BMP4c.232_249dup (p.Met83_Arg84insValIleProAspTyrMet)
c.157_174dup (p.Met58_Arg59insValIleProAspTyrMet)
c.43_60dup (p.Met20_Arg21insValIleProAspTyrMet)
c.373_390dup (p.Met130_Arg131insValIleProAspTyrMet)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951975A>CCA389785260BMP4c.248T>G (p.Met83Arg)
c.173T>G (p.Met58Arg)
c.59T>G (p.Met20Arg)
c.389T>G (p.Met130Arg)
14g.53951975A>GCA389785261BMP4c.248T>C (p.Met83Thr)
c.173T>C (p.Met58Thr)
c.59T>C (p.Met20Thr)
c.389T>C (p.Met130Thr)
14g.53951975A>TCA389785262BMP4c.248T>A (p.Met83Lys)
c.173T>A (p.Met58Lys)
c.59T>A (p.Met20Lys)
c.389T>A (p.Met130Lys)
14g.53951976T>ACA389785263BMP4c.247A>T (p.Met83Leu)
c.172A>T (p.Met58Leu)
c.58A>T (p.Met20Leu)
c.388A>T (p.Met130Leu)
14g.53951976T>CCA389785264BMP4c.247A>G (p.Met83Val)
c.172A>G (p.Met58Val)
c.58A>G (p.Met20Val)
c.388A>G (p.Met130Val)
 gnomAD v4
14g.53951976T>GCA389785265BMP4c.247A>C (p.Met83Leu)
c.172A>C (p.Met58Leu)
c.58A>C (p.Met20Leu)
c.388A>C (p.Met130Leu)
 dbSNP gnomAD v4
14g.53951976T=CA2137819209BMP4c.247A= (p.Met83=)
c.172A= (p.Met58=)
c.58A= (p.Met20=)
c.388A= (p.Met130=)
14g.53951977G>ACA486658701BMP4c.246C>T (p.Tyr82=)
c.171C>T (p.Tyr57=)
c.57C>T (p.Tyr19=)
c.387C>T (p.Tyr129=)
14g.53951977G>CCA389785266BMP4c.246C>G (p.Tyr82Ter)
c.171C>G (p.Tyr57Ter)
c.57C>G (p.Tyr19Ter)
c.387C>G (p.Tyr129Ter)
14g.53951977G>TCA389785267BMP4c.246C>A (p.Tyr82Ter)
c.171C>A (p.Tyr57Ter)
c.57C>A (p.Tyr19Ter)
c.387C>A (p.Tyr129Ter)
14g.53951978T>ACA389785268BMP4c.245A>T (p.Tyr82Phe)
c.170A>T (p.Tyr57Phe)
c.56A>T (p.Tyr19Phe)
c.386A>T (p.Tyr129Phe)
14g.53951978T>CCA389785269BMP4c.245A>G (p.Tyr82Cys)
c.170A>G (p.Tyr57Cys)
c.56A>G (p.Tyr19Cys)
c.386A>G (p.Tyr129Cys)
14g.53951978T>GCA389785270BMP4c.245A>C (p.Tyr82Ser)
c.170A>C (p.Tyr57Ser)
c.56A>C (p.Tyr19Ser)
c.386A>C (p.Tyr129Ser)
14g.53951979A=CA2137819213BMP4c.244T= (p.Tyr82=)
c.169T= (p.Tyr57=)
c.55T= (p.Tyr19=)
c.385T= (p.Tyr129=)
14g.53951979A>CCA389785271BMP4c.244T>G (p.Tyr82Asp)
c.169T>G (p.Tyr57Asp)
c.55T>G (p.Tyr19Asp)
c.385T>G (p.Tyr129Asp)
 dbSNP gnomAD v3 gnomAD v4
14g.53951979A>GCA389785272BMP4c.244T>C (p.Tyr82His)
c.169T>C (p.Tyr57His)
c.55T>C (p.Tyr19His)
c.385T>C (p.Tyr129His)
 dbSNP gnomAD v2
14g.53951979A>TCA389785273BMP4c.244T>A (p.Tyr82Asn)
c.169T>A (p.Tyr57Asn)
c.55T>A (p.Tyr19Asn)
c.385T>A (p.Tyr129Asn)
14g.53951980G>ACA486658704BMP4c.243C>T (p.Asp81=)
c.168C>T (p.Asp56=)
c.54C>T (p.Asp18=)
c.384C>T (p.Asp128=)
14g.53951980G>CCA389785275BMP4c.243C>G (p.Asp81Glu)
c.168C>G (p.Asp56Glu)
c.54C>G (p.Asp18Glu)
c.384C>G (p.Asp128Glu)
14g.53951980G>TCA389785274BMP4c.243C>A (p.Asp81Glu)
c.168C>A (p.Asp56Glu)
c.54C>A (p.Asp18Glu)
c.384C>A (p.Asp128Glu)
14g.53951981T>ACA389785276BMP4c.242A>T (p.Asp81Val)
c.167A>T (p.Asp56Val)
c.53A>T (p.Asp18Val)
c.383A>T (p.Asp128Val)
14g.53951981T>CCA389785277BMP4c.242A>G (p.Asp81Gly)
c.167A>G (p.Asp56Gly)
c.53A>G (p.Asp18Gly)
c.383A>G (p.Asp128Gly)
14g.53951981T>GCA389785278BMP4c.242A>C (p.Asp81Ala)
c.167A>C (p.Asp56Ala)
c.53A>C (p.Asp18Ala)
c.383A>C (p.Asp128Ala)
14g.53951982C>ACA389785279BMP4c.241G>T (p.Asp81Tyr)
c.166G>T (p.Asp56Tyr)
c.52G>T (p.Asp18Tyr)
c.382G>T (p.Asp128Tyr)
 gnomAD v4
14g.53951982C>GCA389785280BMP4c.241G>C (p.Asp81His)
c.166G>C (p.Asp56His)
c.52G>C (p.Asp18His)
c.382G>C (p.Asp128His)
14g.53951982C>TCA389785281BMP4c.241G>A (p.Asp81Asn)
c.166G>A (p.Asp56Asn)
c.52G>A (p.Asp18Asn)
c.382G>A (p.Asp128Asn)
14g.53951983C>ACA486658706BMP4c.240G>T (p.Pro80=)
c.165G>T (p.Pro55=)
c.51G>T (p.Pro17=)
c.381G>T (p.Pro127=)
 ClinVar dbSNP gnomAD v4
14g.53951983C=CA2137819218BMP4c.240G= (p.Pro80=)
c.165G= (p.Pro55=)
c.51G= (p.Pro17=)
c.381G= (p.Pro127=)
14g.53951983C>GCA486658708BMP4c.240G>C (p.Pro80=)
c.165G>C (p.Pro55=)
c.51G>C (p.Pro17=)
c.381G>C (p.Pro127=)
14g.53951983C>TCA7191805BMP4c.240G>A (p.Pro80=)
c.165G>A (p.Pro55=)
c.51G>A (p.Pro17=)
c.381G>A (p.Pro127=)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951984G>ACA261472783BMP4c.239C>T (p.Pro80Leu)
c.164C>T (p.Pro55Leu)
c.50C>T (p.Pro17Leu)
c.380C>T (p.Pro127Leu)
 dbSNP
14g.53951984G>CCA389785283BMP4c.239C>G (p.Pro80Arg)
c.164C>G (p.Pro55Arg)
c.50C>G (p.Pro17Arg)
c.380C>G (p.Pro127Arg)
14g.53951984G=CA2137819222BMP4c.239C= (p.Pro80=)
c.164C= (p.Pro55=)
c.50C= (p.Pro17=)
c.380C= (p.Pro127=)
14g.53951984G>TCA389785282BMP4c.239C>A (p.Pro80Gln)
c.164C>A (p.Pro55Gln)
c.50C>A (p.Pro17Gln)
c.380C>A (p.Pro127Gln)
14g.53951985G>ACA389785284BMP4c.238C>T (p.Pro80Ser)
c.163C>T (p.Pro55Ser)
c.49C>T (p.Pro17Ser)
c.379C>T (p.Pro127Ser)
14g.53951985G>CCA389785285BMP4c.238C>G (p.Pro80Ala)
c.163C>G (p.Pro55Ala)
c.49C>G (p.Pro17Ala)
c.379C>G (p.Pro127Ala)
14g.53951985G>TCA389785286BMP4c.238C>A (p.Pro80Thr)
c.163C>A (p.Pro55Thr)
c.49C>A (p.Pro17Thr)
c.379C>A (p.Pro127Thr)
14g.53951986A>CCA389785287BMP4c.237T>G (p.Ile79Met)
c.162T>G (p.Ile54Met)
c.48T>G (p.Ile16Met)
c.378T>G (p.Ile126Met)
14g.53951986A>GCA486658712BMP4c.237T>C (p.Ile79=)
c.162T>C (p.Ile54=)
c.48T>C (p.Ile16=)
c.378T>C (p.Ile126=)
 gnomAD v4
14g.53951986A>TCA486658711BMP4c.237T>A (p.Ile79=)
c.162T>A (p.Ile54=)
c.48T>A (p.Ile16=)
c.378T>A (p.Ile126=)
 gnomAD v4
14g.53951987A>CCA389785288BMP4c.236T>G (p.Ile79Ser)
c.161T>G (p.Ile54Ser)
c.47T>G (p.Ile16Ser)
c.377T>G (p.Ile126Ser)
14g.53951987A>GCA389785290BMP4c.236T>C (p.Ile79Thr)
c.161T>C (p.Ile54Thr)
c.47T>C (p.Ile16Thr)
c.377T>C (p.Ile126Thr)
14g.53951987A>TCA389785289BMP4c.236T>A (p.Ile79Asn)
c.161T>A (p.Ile54Asn)
c.47T>A (p.Ile16Asn)
c.377T>A (p.Ile126Asn)
14g.53951988T>ACA389785291BMP4c.235A>T (p.Ile79Phe)
c.160A>T (p.Ile54Phe)
c.46A>T (p.Ile16Phe)
c.376A>T (p.Ile126Phe)
14g.53951988T>CCA389785292BMP4c.235A>G (p.Ile79Val)
c.160A>G (p.Ile54Val)
c.46A>G (p.Ile16Val)
c.376A>G (p.Ile126Val)
 dbSNP
14g.53951988T>GCA389785293BMP4c.235A>C (p.Ile79Leu)
c.160A>C (p.Ile54Leu)
c.46A>C (p.Ile16Leu)
c.376A>C (p.Ile126Leu)
14g.53951988T=CA2137819225BMP4c.235A= (p.Ile79=)
c.160A= (p.Ile54=)
c.46A= (p.Ile16=)
c.376A= (p.Ile126=)
14g.53951989G>ACA486658719BMP4c.234C>T (p.Val78=)
c.159C>T (p.Val53=)
c.45C>T (p.Val15=)
c.375C>T (p.Val125=)
14g.53951989G>CCA486658720BMP4c.234C>G (p.Val78=)
c.159C>G (p.Val53=)
c.45C>G (p.Val15=)
c.375C>G (p.Val125=)
14g.53951989G>TCA486658721BMP4c.234C>A (p.Val78=)
c.159C>A (p.Val53=)
c.45C>A (p.Val15=)
c.375C>A (p.Val125=)
14g.53951990A>CCA389785294BMP4c.233T>G (p.Val78Gly)
c.158T>G (p.Val53Gly)
c.44T>G (p.Val15Gly)
c.374T>G (p.Val125Gly)
14g.53951990A>GCA389785295BMP4c.233T>C (p.Val78Ala)
c.158T>C (p.Val53Ala)
c.44T>C (p.Val15Ala)
c.374T>C (p.Val125Ala)
 gnomAD v4
14g.53951990A>TCA389785296BMP4c.233T>A (p.Val78Asp)
c.158T>A (p.Val53Asp)
c.44T>A (p.Val15Asp)
c.374T>A (p.Val125Asp)
14g.53951991C>ACA389785297BMP4c.232G>T (p.Val78Phe)
c.157G>T (p.Val53Phe)
c.43G>T (p.Val15Phe)
c.373G>T (p.Val125Phe)
14g.53951991C>GCA389785298BMP4c.232G>C (p.Val78Leu)
c.157G>C (p.Val53Leu)
c.43G>C (p.Val15Leu)
c.373G>C (p.Val125Leu)
 gnomAD v3 gnomAD v4
14g.53951991C>TCA389785299BMP4c.232G>A (p.Val78Ile)
c.157G>A (p.Val53Ile)
c.43G>A (p.Val15Ile)
c.373G>A (p.Val125Ile)
 dbSNP gnomAD v4 COSMIC
14g.53951992G>ACA486658724BMP4c.231C>T (p.Ala77=)
c.156C>T (p.Ala52=)
c.42C>T (p.Ala14=)
c.372C>T (p.Ala124=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
14g.53951992G>CCA486658727BMP4c.231C>G (p.Ala77=)
c.156C>G (p.Ala52=)
c.42C>G (p.Ala14=)
c.372C>G (p.Ala124=)
 dbSNP gnomAD v2 gnomAD v4
14g.53951992G=CA2137819227BMP4c.231C= (p.Ala77=)
c.156C= (p.Ala52=)
c.42C= (p.Ala14=)
c.372C= (p.Ala124=)
14g.53951992G>TCA486658725BMP4c.231C>A (p.Ala77=)
c.156C>A (p.Ala52=)
c.42C>A (p.Ala14=)
c.372C>A (p.Ala124=)
 dbSNP
14g.53951993G>ACA389785300BMP4c.230C>T (p.Ala77Val)
c.155C>T (p.Ala52Val)
c.41C>T (p.Ala14Val)
c.371C>T (p.Ala124Val)
 dbSNP gnomAD v2 gnomAD v4
14g.53951993G>CCA389785301BMP4c.230C>G (p.Ala77Gly)
c.155C>G (p.Ala52Gly)
c.41C>G (p.Ala14Gly)
c.371C>G (p.Ala124Gly)
14g.53951993G=CA2137819228BMP4c.230C= (p.Ala77=)
c.155C= (p.Ala52=)
c.41C= (p.Ala14=)
c.371C= (p.Ala124=)
14g.53951993G>TCA389785302BMP4c.230C>A (p.Ala77Asp)
c.155C>A (p.Ala52Asp)
c.41C>A (p.Ala14Asp)
c.371C>A (p.Ala124Asp)
14g.53951994C>ACA389785305BMP4c.229G>T (p.Ala77Ser)
c.154G>T (p.Ala52Ser)
c.40G>T (p.Ala14Ser)
c.370G>T (p.Ala124Ser)
14g.53951994C>GCA389785304BMP4c.229G>C (p.Ala77Pro)
c.154G>C (p.Ala52Pro)
c.40G>C (p.Ala14Pro)
c.370G>C (p.Ala124Pro)
14g.53951994C>TCA389785303BMP4c.229G>A (p.Ala77Thr)
c.154G>A (p.Ala52Thr)
c.40G>A (p.Ala14Thr)
c.370G>A (p.Ala124Thr)
 gnomAD v4
14g.53951995A=CA2137819232BMP4c.228T= (p.Ser76=)
c.153T= (p.Ser51=)
c.39T= (p.Ser13=)
c.369T= (p.Ser123=)
14g.53951995A>CCA389785306BMP4c.228T>G (p.Ser76Arg)
c.153T>G (p.Ser51Arg)
c.39T>G (p.Ser13Arg)
c.369T>G (p.Ser123Arg)
14g.53951995A>GCA486658731BMP4c.228T>C (p.Ser76=)
c.153T>C (p.Ser51=)
c.39T>C (p.Ser13=)
c.369T>C (p.Ser123=)
14g.53951995A>TCA7191806BMP4c.228T>A (p.Ser76Arg)
c.153T>A (p.Ser51Arg)
c.39T>A (p.Ser13Arg)
c.369T>A (p.Ser123Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951996C>ACA389785307BMP4c.227G>T (p.Ser76Ile)
c.152G>T (p.Ser51Ile)
c.38G>T (p.Ser13Ile)
c.368G>T (p.Ser123Ile)
 gnomAD v4
14g.53951996C=CA2137819240BMP4c.227G= (p.Ser76=)
c.152G= (p.Ser51=)
c.38G= (p.Ser13=)
c.368G= (p.Ser123=)
14g.53951996C>GCA389785308BMP4c.227G>C (p.Ser76Thr)
c.152G>C (p.Ser51Thr)
c.38G>C (p.Ser13Thr)
c.368G>C (p.Ser123Thr)
 dbSNP gnomAD v3 gnomAD v4
14g.53951996C>TCA389785309BMP4c.227G>A (p.Ser76Asn)
c.152G>A (p.Ser51Asn)
c.38G>A (p.Ser13Asn)
c.368G>A (p.Ser123Asn)
 gnomAD v4
14g.53951998_53951999delCA2580613688BMP4c.226_227del (p.Ser76CysfsTer29)
c.151_152del (p.Ser51CysfsTer29)
c.37_38del (p.Ser13CysfsTer29)
c.367_368del (p.Ser123CysfsTer29)
 ClinVar dbSNP
14g.53951997T>ACA389785310BMP4c.226A>T (p.Ser76Cys)
c.151A>T (p.Ser51Cys)
c.37A>T (p.Ser13Cys)
c.367A>T (p.Ser123Cys)
14g.53951997T>CCA389785311BMP4c.226A>G (p.Ser76Gly)
c.151A>G (p.Ser51Gly)
c.37A>G (p.Ser13Gly)
c.367A>G (p.Ser123Gly)
 gnomAD v4
14g.53951997T>GCA389785312BMP4c.226A>C (p.Ser76Arg)
c.151A>C (p.Ser51Arg)
c.37A>C (p.Ser13Arg)
c.367A>C (p.Ser123Arg)
14g.53951998C>ACA389785313BMP4c.225G>T (p.Lys75Asn)
c.150G>T (p.Lys50Asn)
c.36G>T (p.Lys12Asn)
c.366G>T (p.Lys122Asn)
14g.53951998C=CA2137819243BMP4c.225G= (p.Lys75=)
c.150G= (p.Lys50=)
c.36G= (p.Lys12=)
c.366G= (p.Lys122=)
14g.53951998C>GCA389785314BMP4c.225G>C (p.Lys75Asn)
c.150G>C (p.Lys50Asn)
c.36G>C (p.Lys12Asn)
c.366G>C (p.Lys122Asn)
14g.53951998C>TCA486658738BMP4c.225G>A (p.Lys75=)
c.150G>A (p.Lys50=)
c.36G>A (p.Lys12=)
c.366G>A (p.Lys122=)
 dbSNP gnomAD v3 gnomAD v4
14g.53951999T>ACA389785315BMP4c.224A>T (p.Lys75Met)
c.149A>T (p.Lys50Met)
c.35A>T (p.Lys12Met)
c.365A>T (p.Lys122Met)
14g.53951999T>CCA7191807BMP4c.224A>G (p.Lys75Arg)
c.149A>G (p.Lys50Arg)
c.35A>G (p.Lys12Arg)
c.365A>G (p.Lys122Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
14g.53951999T>GCA389785316BMP4c.224A>C (p.Lys75Thr)
c.149A>C (p.Lys50Thr)
c.35A>C (p.Lys12Thr)
c.365A>C (p.Lys122Thr)
14g.53951999T=CA2137819247BMP4c.224A= (p.Lys75=)
c.149A= (p.Lys50=)
c.35A= (p.Lys12=)
c.365A= (p.Lys122=)

Number of alleles fetched