Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202518967A>CCA350340469BMPR2c.767A>C (p.Asn256Thr)
c.698A>C (p.Asn233Thr)
2g.202518967A>GCA350340470BMPR2c.767A>G (p.Asn256Ser)
c.698A>G (p.Asn233Ser)
 gnomAD v4
2g.202518967A>TCA350340468BMPR2c.767A>T (p.Asn256Ile)
c.698A>T (p.Asn233Ile)
2g.202518968C>ACA350340471BMPR2c.768C>A (p.Asn256Lys)
c.699C>A (p.Asn233Lys)
2g.202518968C>GCA350340472BMPR2c.768C>G (p.Asn256Lys)
c.699C>G (p.Asn233Lys)
2g.202518968C>TCA430839700BMPR2c.768C>T (p.Asn256=)
c.699C>T (p.Asn233=)
2g.202518969A=CA1321539713BMPR2c.769A= (p.Ile257=)
c.700A= (p.Ile234=)
2g.202518969A>CCA350340473BMPR2c.769A>C (p.Ile257Leu)
c.700A>C (p.Ile234Leu)
2g.202518969A>GCA350340475BMPR2c.769A>G (p.Ile257Val)
c.700A>G (p.Ile234Val)
 dbSNP gnomAD v4
2g.202518969A>TCA350340474BMPR2c.769A>T (p.Ile257Phe)
c.700A>T (p.Ile234Phe)
2g.202518970T>ACA350340476BMPR2c.770T>A (p.Ile257Asn)
c.701T>A (p.Ile234Asn)
2g.202518970T>CCA2061201BMPR2c.770T>C (p.Ile257Thr)
c.701T>C (p.Ile234Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518970T>GCA350340477BMPR2c.770T>G (p.Ile257Ser)
c.701T>G (p.Ile234Ser)
2g.202518970T=CA1321539714BMPR2c.770T= (p.Ile257=)
c.701T= (p.Ile234=)
2g.202518971T>ACA430839714BMPR2c.771T>A (p.Ile257=)
c.702T>A (p.Ile234=)
2g.202518971T>CCA430839716BMPR2c.771T>C (p.Ile257=)
c.702T>C (p.Ile234=)
 ClinVar dbSNP
2g.202518971T>GCA350340478BMPR2c.771T>G (p.Ile257Met)
c.702T>G (p.Ile234Met)
2g.202518972G>ACA350340479BMPR2c.772G>A (p.Ala258Thr)
c.703G>A (p.Ala235Thr)
2g.202518972G>CCA350340480BMPR2c.772G>C (p.Ala258Pro)
c.703G>C (p.Ala235Pro)
2g.202518972G>TCA350340481BMPR2c.772G>T (p.Ala258Ser)
c.703G>T (p.Ala235Ser)
2g.202518972_202518973delinsGCCA1321539715BMPR2c.772_773delinsGC (p.Ala258=)
c.703_704delinsGC (p.Ala235=)
2g.202518973C>ACA350340482BMPR2c.773C>A (p.Ala258Asp)
c.704C>A (p.Ala235Asp)
2g.202518973C=CA1321539716BMPR2c.773C= (p.Ala258=)
c.704C= (p.Ala235=)
2g.202518973C>GCA350340483BMPR2c.773C>G (p.Ala258Gly)
c.704C>G (p.Ala235Gly)
2g.202518973C>TCA350340484BMPR2c.773C>T (p.Ala258Val)
c.704C>T (p.Ala235Val)
 dbSNP gnomAD v4
2g.202518975delCA645293813BMPR2c.775del (p.Arg259AlafsTer3)
c.706del (p.Arg236AlafsTer3)
 ClinVar dbSNP
2g.202518974C>ACA430839721BMPR2c.774C>A (p.Ala258=)
c.705C>A (p.Ala235=)
 dbSNP
2g.202518974C>GCA430839722BMPR2c.774C>G (p.Ala258=)
c.705C>G (p.Ala235=)
2g.202518974C>TCA430839724BMPR2c.774C>T (p.Ala258=)
c.705C>T (p.Ala235=)
2g.202518975C>ACA350340486BMPR2c.775C>A (p.Arg259Ser)
c.706C>A (p.Arg236Ser)
2g.202518975C=CA1321539717BMPR2c.775C= (p.Arg259=)
c.706C= (p.Arg236=)
2g.202518975C>GCA350340485BMPR2c.775C>G (p.Arg259Gly)
c.706C>G (p.Arg236Gly)
2g.202518975C>TCA2061202BMPR2c.775C>T (p.Arg259Cys)
c.706C>T (p.Arg236Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518976G>ACA2061203BMPR2c.776G>A (p.Arg259His)
c.707G>A (p.Arg236His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518976G>CCA350340487BMPR2c.776G>C (p.Arg259Pro)
c.707G>C (p.Arg236Pro)
2g.202518976G=CA1321539718BMPR2c.776G= (p.Arg259=)
c.707G= (p.Arg236=)
2g.202518976G>TCA350340488BMPR2c.776G>T (p.Arg259Leu)
c.707G>T (p.Arg236Leu)
2g.202518977C>ACA430839727BMPR2c.777C>A (p.Arg259=)
c.708C>A (p.Arg236=)
2g.202518977C>GCA430839728BMPR2c.777C>G (p.Arg259=)
c.708C>G (p.Arg236=)
2g.202518977C>TCA430839729BMPR2c.777C>T (p.Arg259=)
c.708C>T (p.Arg236=)
2g.202518978T>ACA350340489BMPR2c.778T>A (p.Phe260Ile)
c.709T>A (p.Phe237Ile)
2g.202518978T>CCA350340490BMPR2c.778T>C (p.Phe260Leu)
c.709T>C (p.Phe237Leu)
2g.202518978T>GCA350340491BMPR2c.778T>G (p.Phe260Val)
c.709T>G (p.Phe237Val)
2g.202518979T>ACA350340492BMPR2c.779T>A (p.Phe260Tyr)
c.710T>A (p.Phe237Tyr)
2g.202518979T>CCA350340493BMPR2c.779T>C (p.Phe260Ser)
c.710T>C (p.Phe237Ser)
2g.202518979T>GCA350340494BMPR2c.779T>G (p.Phe260Cys)
c.710T>G (p.Phe237Cys)
2g.202518979_202518981delinsTTACA1321539719BMPR2c.779_781delinsTTA (p.Phe260=)
c.710_712delinsTTA (p.Phe237=)
2g.202518980T>ACA350340495BMPR2c.780T>A (p.Phe260Leu)
c.711T>A (p.Phe237Leu)
2g.202518980T>CCA430839731BMPR2c.780T>C (p.Phe260=)
c.711T>C (p.Phe237=)
2g.202518980T>GCA350340496BMPR2c.780T>G (p.Phe260Leu)
c.711T>G (p.Phe237Leu)
2g.202518982_202518983delCA645293814BMPR2c.782_783del (p.Ile261SerfsTer4)
c.713_714del (p.Ile238SerfsTer4)
 ClinVar dbSNP
2g.202518981A=CA1321539720BMPR2c.781A= (p.Ile261=)
c.712A= (p.Ile238=)
2g.202518981A>CCA350340498BMPR2c.781A>C (p.Ile261Leu)
c.712A>C (p.Ile238Leu)
2g.202518981A>GCA2061204BMPR2c.781A>G (p.Ile261Val)
c.712A>G (p.Ile238Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518981A>TCA350340497BMPR2c.781A>T (p.Ile261Leu)
c.712A>T (p.Ile238Leu)
2g.202518982T>ACA350340499BMPR2c.782T>A (p.Ile261Lys)
c.713T>A (p.Ile238Lys)
2g.202518982T>CCA350340500BMPR2c.782T>C (p.Ile261Thr)
c.713T>C (p.Ile238Thr)
 dbSNP gnomAD v4
2g.202518982T>GCA350340501BMPR2c.782T>G (p.Ile261Arg)
c.713T>G (p.Ile238Arg)
2g.202518982T=CA1321539721BMPR2c.782T= (p.Ile261=)
c.713T= (p.Ile238=)
2g.202518983A>CCA430839732BMPR2c.783A>C (p.Ile261=)
c.714A>C (p.Ile238=)
2g.202518983A>GCA350340502BMPR2c.783A>G (p.Ile261Met)
c.714A>G (p.Ile238Met)
2g.202518983A>TCA430839733BMPR2c.783A>T (p.Ile261=)
c.714A>T (p.Ile238=)
2g.202518984G>ACA350340505BMPR2c.784G>A (p.Val262Ile)
c.715G>A (p.Val239Ile)
2g.202518984G>CCA350340504BMPR2c.784G>C (p.Val262Leu)
c.715G>C (p.Val239Leu)
2g.202518984G=CA1321539722BMPR2c.784G= (p.Val262=)
c.715G= (p.Val239=)
2g.202518984G>TCA350340503BMPR2c.784G>T (p.Val262Phe)
c.715G>T (p.Val239Phe)
2g.202518985T>ACA350340506BMPR2c.785T>A (p.Val262Asp)
c.716T>A (p.Val239Asp)
2g.202518985T>CCA2061205BMPR2c.785T>C (p.Val262Ala)
c.716T>C (p.Val239Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518985T>GCA350340507BMPR2c.785T>G (p.Val262Gly)
c.716T>G (p.Val239Gly)
2g.202518985T=CA1321539723BMPR2c.785T= (p.Val262=)
c.716T= (p.Val239=)
2g.202518986dupCA645293815BMPR2c.786dup (p.Gly263TrpfsTer3)
c.717dup (p.Gly240TrpfsTer3)
 ClinVar dbSNP
2g.202518986T>ACA430839735BMPR2c.786T>A (p.Val262=)
c.717T>A (p.Val239=)
2g.202518986T>CCA430839736BMPR2c.786T>C (p.Val262=)
c.717T>C (p.Val239=)
2g.202518986T>GCA430839734BMPR2c.786T>G (p.Val262=)
c.717T>G (p.Val239=)
2g.202518987G>ACA350340508BMPR2c.787G>A (p.Gly263Arg)
c.718G>A (p.Gly240Arg)
2g.202518987G>CCA350340509BMPR2c.787G>C (p.Gly263Arg)
c.718G>C (p.Gly240Arg)
2g.202518987G>TCA350340510BMPR2c.787G>T (p.Gly263Ter)
c.718G>T (p.Gly240Ter)
2g.202518988G>ACA350340511BMPR2c.788G>A (p.Gly263Glu)
c.719G>A (p.Gly240Glu)
 gnomAD v4
2g.202518988G>CCA350340513BMPR2c.788G>C (p.Gly263Ala)
c.719G>C (p.Gly240Ala)
 gnomAD v4
2g.202518988G>TCA350340512BMPR2c.788G>T (p.Gly263Val)
c.719G>T (p.Gly240Val)
2g.202518989A>CCA430839739BMPR2c.789A>C (p.Gly263=)
c.720A>C (p.Gly240=)
2g.202518989A>GCA430839737BMPR2c.789A>G (p.Gly263=)
c.720A>G (p.Gly240=)
2g.202518989A>TCA430839738BMPR2c.789A>T (p.Gly263=)
c.720A>T (p.Gly240=)
2g.202518989_202518990delinsAGCA1321539724BMPR2c.789_790delinsAG (p.Gly263=)
c.720_721delinsAG (p.Gly240=)
2g.202518990delCA645293816BMPR2c.790del (p.Asp264MetfsTer15)
c.721del (p.Asp241MetfsTer15)
 ClinVar dbSNP
2g.202518990G>ACA350340514BMPR2c.790G>A (p.Asp264Asn)
c.721G>A (p.Asp241Asn)
2g.202518990G>CCA350340515BMPR2c.790G>C (p.Asp264His)
c.721G>C (p.Asp241His)
2g.202518990G>TCA350340516BMPR2c.790G>T (p.Asp264Tyr)
c.721G>T (p.Asp241Tyr)
2g.202518991A>CCA350340517BMPR2c.791A>C (p.Asp264Ala)
c.722A>C (p.Asp241Ala)
2g.202518991A>GCA350340518BMPR2c.791A>G (p.Asp264Gly)
c.722A>G (p.Asp241Gly)
2g.202518991A>TCA350340519BMPR2c.791A>T (p.Asp264Val)
c.722A>T (p.Asp241Val)
2g.202518992T>ACA350340520BMPR2c.792T>A (p.Asp264Glu)
c.723T>A (p.Asp241Glu)
2g.202518992T>CCA2061206BMPR2c.792T>C (p.Asp264=)
c.723T>C (p.Asp241=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518992T>GCA350340521BMPR2c.792T>G (p.Asp264Glu)
c.723T>G (p.Asp241Glu)
2g.202518992T=CA1321539725BMPR2c.792T= (p.Asp264=)
c.723T= (p.Asp241=)
2g.202518992_202518996delinsTGAGACA1321539726BMPR2c.792_796delinsTGAGA (p.Asp264=)
c.723_727delinsTGAGA (p.Asp241=)
2g.202518993G>ACA350340522BMPR2c.793G>A (p.Glu265Lys)
c.724G>A (p.Glu242Lys)
 dbSNP
2g.202518993G>CCA350340523BMPR2c.793G>C (p.Glu265Gln)
c.724G>C (p.Glu242Gln)
2g.202518993G=CA1321539727BMPR2c.793G= (p.Glu265=)
c.724G= (p.Glu242=)
2g.202518993G>TCA350340524BMPR2c.793G>T (p.Glu265Ter)
c.724G>T (p.Glu242Ter)
 ClinVar dbSNP
2g.202518998_202518999dupCA2697551481BMPR2c.798_799dup (p.Val267GlufsTer13)
c.729_730dup (p.Val244GlufsTer13)
 ClinVar
2g.202518998_202518999delCA645532630BMPR2c.798_799del (p.Arg266SerfsTer?)
c.729_730del (p.Arg243SerfsTer?)
 COSMIC
2g.202518996_202518999delCA645293817BMPR2c.796_799del (p.Arg266SerfsTer12)
c.727_730del (p.Arg243SerfsTer12)
 ClinVar dbSNP
2g.202518994A=CA1321539728BMPR2c.794A= (p.Glu265=)
c.725A= (p.Glu242=)
2g.202518994A>CCA350340526BMPR2c.794A>C (p.Glu265Ala)
c.725A>C (p.Glu242Ala)
2g.202518994A>GCA350340527BMPR2c.794A>G (p.Glu265Gly)
c.725A>G (p.Glu242Gly)
 ClinVar dbSNP
2g.202518994A>TCA350340525BMPR2c.794A>T (p.Glu265Val)
c.725A>T (p.Glu242Val)
2g.202518995G>ACA430839740BMPR2c.795G>A (p.Glu265=)
c.726G>A (p.Glu242=)
2g.202518995G>CCA350340529BMPR2c.795G>C (p.Glu265Asp)
c.726G>C (p.Glu242Asp)
2g.202518995G>TCA350340528BMPR2c.795G>T (p.Glu265Asp)
c.726G>T (p.Glu242Asp)
2g.202518995_202518996delinsGACA1321539729BMPR2c.795_796delinsGA (p.Glu265=)
c.726_727delinsGA (p.Glu242=)
2g.202518995_202518996delinsTTCA645293818BMPR2c.795_796delinsTT (p.Glu265AspfsTer2)
c.726_727delinsTT (p.Glu242AspfsTer2)
 ClinVar dbSNP
2g.202518996A>CCA430839741BMPR2c.796A>C (p.Arg266=)
c.727A>C (p.Arg243=)
2g.202518996A>GCA350340530BMPR2c.796A>G (p.Arg266Gly)
c.727A>G (p.Arg243Gly)
2g.202518996A>TCA350340531BMPR2c.796A>T (p.Arg266Ter)
c.727A>T (p.Arg243Ter)
2g.202518997G>ACA350340532BMPR2c.797G>A (p.Arg266Lys)
c.728G>A (p.Arg243Lys)
 dbSNP
2g.202518997G>CCA320454BMPR2c.797G>C (p.Arg266Thr)
c.728G>C (p.Arg243Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518997G=CA1321539730BMPR2c.797G= (p.Arg266=)
c.728G= (p.Arg243=)
2g.202518997G>TCA350340533BMPR2c.797G>T (p.Arg266Ile)
c.728G>T (p.Arg243Ile)
2g.202518998A=CA1321539731BMPR2c.798A= (p.Arg266=)
c.729A= (p.Arg243=)
2g.202518998A>CCA350340534BMPR2c.798A>C (p.Arg266Ser)
c.729A>C (p.Arg243Ser)
2g.202518998A>GCA430839742BMPR2c.798A>G (p.Arg266=)
c.729A>G (p.Arg243=)
2g.202518998A>TCA2061207BMPR2c.798A>T (p.Arg266Ser)
c.729A>T (p.Arg243Ser)
 ClinVar dbSNP ExAC gnomAD v2
2g.202518999G>ACA2061208BMPR2c.799G>A (p.Val267Ile)
c.730G>A (p.Val244Ile)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.202518999G>CCA350340535BMPR2c.799G>C (p.Val267Leu)
c.730G>C (p.Val244Leu)
2g.202518999G=CA1321539732BMPR2c.799G= (p.Val267=)
c.730G= (p.Val244=)
2g.202518999G>TCA350340536BMPR2c.799G>T (p.Val267Phe)
c.730G>T (p.Val244Phe)
2g.202519000T>ACA350340539BMPR2c.800T>A (p.Val267Asp)
c.731T>A (p.Val244Asp)
2g.202519000T>CCA350340538BMPR2c.800T>C (p.Val267Ala)
c.731T>C (p.Val244Ala)
2g.202519000T>GCA350340537BMPR2c.800T>G (p.Val267Gly)
c.731T>G (p.Val244Gly)
2g.202519001C>ACA430839743BMPR2c.801C>A (p.Val267=)
c.732C>A (p.Val244=)
2g.202519001C=CA1321539733BMPR2c.801C= (p.Val267=)
c.732C= (p.Val244=)
2g.202519001C>GCA430839744BMPR2c.801C>G (p.Val267=)
c.732C>G (p.Val244=)
2g.202519001C>TCA430839745BMPR2c.801C>T (p.Val267=)
c.732C>T (p.Val244=)
2g.202519002A>CCA350340540BMPR2c.802A>C (p.Thr268Pro)
c.733A>C (p.Thr245Pro)
2g.202519002A>GCA350340541BMPR2c.802A>G (p.Thr268Ala)
c.733A>G (p.Thr245Ala)
2g.202519002A>TCA350340542BMPR2c.802A>T (p.Thr268Ser)
c.733A>T (p.Thr245Ser)
2g.202519002dupCA645293819BMPR2c.802dup (p.Thr268AsnfsTer30)
c.733dup (p.Thr245AsnfsTer30)
 ClinVar dbSNP
2g.202519003C>ACA350340543BMPR2c.803C>A (p.Thr268Asn)
c.734C>A (p.Thr245Asn)
2g.202519003C=CA1321539735BMPR2c.803C= (p.Thr268=)
c.734C= (p.Thr245=)
2g.202519003C>GCA2061209BMPR2c.803C>G (p.Thr268Ser)
c.734C>G (p.Thr245Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202519003C>TCA350340544BMPR2c.803C>T (p.Thr268Ile)
c.734C>T (p.Thr245Ile)
2g.202519003_202519004delinsCTCA1321539734BMPR2c.803_804delinsCT (p.Thr268=)
c.734_735delinsCT (p.Thr245=)
2g.202519004delCA645293820BMPR2c.804del (p.Ala269GlnfsTer10)
c.735del (p.Ala246GlnfsTer10)
 ClinVar dbSNP
2g.202519004T>ACA430839746BMPR2c.804T>A (p.Thr268=)
c.735T>A (p.Thr245=)
2g.202519004T>CCA430839747BMPR2c.804T>C (p.Thr268=)
c.735T>C (p.Thr245=)
 ClinVar gnomAD v4
2g.202519004T>GCA2061210BMPR2c.804T>G (p.Thr268=)
c.735T>G (p.Thr245=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202519004T=CA1321539736BMPR2c.804T= (p.Thr268=)
c.735T= (p.Thr245=)
2g.202519005G>ACA350340545BMPR2c.805G>A (p.Ala269Thr)
c.736G>A (p.Ala246Thr)
2g.202519005G>CCA350340546BMPR2c.805G>C (p.Ala269Pro)
c.736G>C (p.Ala246Pro)
2g.202519005G>TCA350340547BMPR2c.805G>T (p.Ala269Ser)
c.736G>T (p.Ala246Ser)
2g.202519006C>ACA350340548BMPR2c.806C>A (p.Ala269Glu)
c.737C>A (p.Ala246Glu)
2g.202519006C>GCA350340549BMPR2c.806C>G (p.Ala269Gly)
c.737C>G (p.Ala246Gly)
2g.202519006C>TCA350340550BMPR2c.806C>T (p.Ala269Val)
c.737C>T (p.Ala246Val)
2g.202519007A>CCA430839748BMPR2c.807A>C (p.Ala269=)
c.738A>C (p.Ala246=)
2g.202519007A>GCA430839749BMPR2c.807A>G (p.Ala269=)
c.738A>G (p.Ala246=)
2g.202519007A>TCA430839750BMPR2c.807A>T (p.Ala269=)
c.738A>T (p.Ala246=)
2g.202519008G>ACA350340552BMPR2c.808G>A (p.Asp270Asn)
c.739G>A (p.Asp247Asn)
2g.202519008G>CCA350340553BMPR2c.808G>C (p.Asp270His)
c.739G>C (p.Asp247His)
2g.202519008G>TCA350340551BMPR2c.808G>T (p.Asp270Tyr)
c.739G>T (p.Asp247Tyr)
2g.202519009A=CA1321539737BMPR2c.809A= (p.Asp270=)
c.740A= (p.Asp247=)
2g.202519009A>CCA350340554BMPR2c.809A>C (p.Asp270Ala)
c.740A>C (p.Asp247Ala)
2g.202519009A>GCA350340555BMPR2c.809A>G (p.Asp270Gly)
c.740A>G (p.Asp247Gly)
2g.202519009A>TCA350340556BMPR2c.809A>T (p.Asp270Val)
c.740A>T (p.Asp247Val)
 dbSNP
2g.202519010T>ACA350340557BMPR2c.810T>A (p.Asp270Glu)
c.741T>A (p.Asp247Glu)
2g.202519010T>CCA430839751BMPR2c.810T>C (p.Asp270=)
c.741T>C (p.Asp247=)
2g.202519010T>GCA350340558BMPR2c.810T>G (p.Asp270Glu)
c.741T>G (p.Asp247Glu)
2g.202519011G>ACA350340561BMPR2c.811G>A (p.Gly271Arg)
c.742G>A (p.Gly248Arg)
 gnomAD v4
2g.202519011G>CCA350340560BMPR2c.811G>C (p.Gly271Arg)
c.742G>C (p.Gly248Arg)
2g.202519011G>TCA350340559BMPR2c.811G>T (p.Gly271Ter)
c.742G>T (p.Gly248Ter)
2g.202519012G>ACA350340562BMPR2c.812G>A (p.Gly271Glu)
c.743G>A (p.Gly248Glu)
2g.202519012G>CCA350340563BMPR2c.812G>C (p.Gly271Ala)
c.743G>C (p.Gly248Ala)
2g.202519012G>TCA350340564BMPR2c.812G>T (p.Gly271Val)
c.743G>T (p.Gly248Val)
2g.202519013A>CCA430839753BMPR2c.813A>C (p.Gly271=)
c.744A>C (p.Gly248=)
2g.202519013A>GCA430839754BMPR2c.813A>G (p.Gly271=)
c.744A>G (p.Gly248=)
2g.202519013A>TCA430839752BMPR2c.813A>T (p.Gly271=)
c.744A>T (p.Gly248=)
2g.202519014C>ACA350340565BMPR2c.814C>A (p.Arg272Ser)
c.745C>A (p.Arg249Ser)
2g.202519014C=CA1321539738BMPR2c.814C= (p.Arg272=)
c.745C= (p.Arg249=)
2g.202519014C>GCA350340566BMPR2c.814C>G (p.Arg272Gly)
c.745C>G (p.Arg249Gly)
2g.202519014C>TCA2061211BMPR2c.814C>T (p.Arg272Cys)
c.745C>T (p.Arg249Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202519015G>ACA2061212BMPR2c.815G>A (p.Arg272His)
c.746G>A (p.Arg249His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202519015G>CCA350340568BMPR2c.815G>C (p.Arg272Pro)
c.746G>C (p.Arg249Pro)
2g.202519015G=CA1321539739BMPR2c.815G= (p.Arg272=)
c.746G= (p.Arg249=)
2g.202519015G>TCA350340567BMPR2c.815G>T (p.Arg272Leu)
c.746G>T (p.Arg249Leu)
 gnomAD v4
2g.202519016C>ACA430839755BMPR2c.816C>A (p.Arg272=)
c.747C>A (p.Arg249=)
2g.202519016C>GCA430839756BMPR2c.816C>G (p.Arg272=)
c.747C>G (p.Arg249=)
2g.202519016C>TCA430839757BMPR2c.816C>T (p.Arg272=)
c.747C>T (p.Arg249=)
2g.202519017A=CA1321539740BMPR2c.817A= (p.Met273=)
c.748A= (p.Met250=)
2g.202519017A>CCA350340569BMPR2c.817A>C (p.Met273Leu)
c.748A>C (p.Met250Leu)
2g.202519017A>GCA350340570BMPR2c.817A>G (p.Met273Val)
c.748A>G (p.Met250Val)
 dbSNP gnomAD v2 gnomAD v4
2g.202519017A>TCA350340571BMPR2c.817A>T (p.Met273Leu)
c.748A>T (p.Met250Leu)
2g.202519022_202519039delCA2586965536BMPR2c.822_839del (p.Tyr275_Glu280del)
c.753_770del (p.Tyr252_Glu257del)
2g.202519018T>ACA350340572BMPR2c.818T>A (p.Met273Lys)
c.749T>A (p.Met250Lys)
2g.202519018T>CCA350340573BMPR2c.818T>C (p.Met273Thr)
c.749T>C (p.Met250Thr)
 gnomAD v4
2g.202519018T>GCA350340574BMPR2c.818T>G (p.Met273Arg)
c.749T>G (p.Met250Arg)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202519018T=CA1321539741BMPR2c.818T= (p.Met273=)
c.749T= (p.Met250=)
2g.202519019G>ACA350340576BMPR2c.819G>A (p.Met273Ile)
c.750G>A (p.Met250Ile)
2g.202519019G>CCA350340578BMPR2c.819G>C (p.Met273Ile)
c.750G>C (p.Met250Ile)
2g.202519019G>TCA350340580BMPR2c.819G>T (p.Met273Ile)
c.750G>T (p.Met250Ile)
2g.202519020G>ACA350340581BMPR2c.820G>A (p.Glu274Lys)
c.751G>A (p.Glu251Lys)
2g.202519020G>CCA350340583BMPR2c.820G>C (p.Glu274Gln)
c.751G>C (p.Glu251Gln)
2g.202519020G>TCA350340584BMPR2c.820G>T (p.Glu274Ter)
c.751G>T (p.Glu251Ter)
2g.202519021A>CCA350340587BMPR2c.821A>C (p.Glu274Ala)
c.752A>C (p.Glu251Ala)
2g.202519021A>GCA350340586BMPR2c.821A>G (p.Glu274Gly)
c.752A>G (p.Glu251Gly)
2g.202519021A>TCA350340585BMPR2c.821A>T (p.Glu274Val)
c.752A>T (p.Glu251Val)
2g.202519022A=CA1321539742BMPR2c.822A= (p.Glu274=)
c.753A= (p.Glu251=)
2g.202519022A>CCA350340588BMPR2c.822A>C (p.Glu274Asp)
c.753A>C (p.Glu251Asp)
2g.202519022A>GCA430839758BMPR2c.822A>G (p.Glu274=)
c.753A>G (p.Glu251=)
 gnomAD v4
2g.202519022A>TCA350340589BMPR2c.822A>T (p.Glu274Asp)
c.753A>T (p.Glu251Asp)
2g.202519023T>ACA350340590BMPR2c.823T>A (p.Tyr275Asn)
c.754T>A (p.Tyr252Asn)
2g.202519023T>CCA350340592BMPR2c.823T>C (p.Tyr275His)
c.754T>C (p.Tyr252His)
 gnomAD v4
2g.202519023T>GCA350340591BMPR2c.823T>G (p.Tyr275Asp)
c.754T>G (p.Tyr252Asp)
2g.202519023dupCA915941647BMPR2c.823dup (p.Tyr275LeufsTer23)
c.754dup (p.Tyr252LeufsTer23)
 ClinVar dbSNP
2g.202519024A>CCA350340593BMPR2c.824A>C (p.Tyr275Ser)
c.755A>C (p.Tyr252Ser)
2g.202519024A>GCA350340595BMPR2c.824A>G (p.Tyr275Cys)
c.755A>G (p.Tyr252Cys)
2g.202519024A>TCA350340594BMPR2c.824A>T (p.Tyr275Phe)
c.755A>T (p.Tyr252Phe)
2g.202519025T>ACA350340596BMPR2c.825T>A (p.Tyr275Ter)
c.756T>A (p.Tyr252Ter)
2g.202519025T>CCA430839759BMPR2c.825T>C (p.Tyr275=)
c.756T>C (p.Tyr252=)
2g.202519025T>GCA350340597BMPR2c.825T>G (p.Tyr275Ter)
c.756T>G (p.Tyr252Ter)
2g.202519026T>ACA350340598BMPR2c.826T>A (p.Leu276Met)
c.757T>A (p.Leu253Met)
2g.202519026T>CCA430839760BMPR2c.826T>C (p.Leu276=)
c.757T>C (p.Leu253=)
2g.202519026T>GCA350340599BMPR2c.826T>G (p.Leu276Val)
c.757T>G (p.Leu253Val)
2g.202519027T>ACA350340600BMPR2c.827T>A (p.Leu276Ter)
c.758T>A (p.Leu253Ter)
2g.202519027T>CCA350340601BMPR2c.827T>C (p.Leu276Ser)
c.758T>C (p.Leu253Ser)
2g.202519027T>GCA350340602BMPR2c.827T>G (p.Leu276Trp)
c.758T>G (p.Leu253Trp)
2g.202519028G>ACA430839761BMPR2c.828G>A (p.Leu276=)
c.759G>A (p.Leu253=)
2g.202519028G>CCA350340604BMPR2c.828G>C (p.Leu276Phe)
c.759G>C (p.Leu253Phe)
2g.202519028G>TCA350340603BMPR2c.828G>T (p.Leu276Phe)
c.759G>T (p.Leu253Phe)
2g.202519029C>ACA350340605BMPR2c.829C>A (p.Leu277Ile)
c.760C>A (p.Leu254Ile)
2g.202519029C=CA1321539743BMPR2c.829C= (p.Leu277=)
c.760C= (p.Leu254=)
2g.202519029C>GCA350340606BMPR2c.829C>G (p.Leu277Val)
c.760C>G (p.Leu254Val)
2g.202519029C>TCA2061213BMPR2c.829C>T (p.Leu277Phe)
c.760C>T (p.Leu254Phe)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202519030T>ACA350340607BMPR2c.830T>A (p.Leu277His)
c.761T>A (p.Leu254His)
2g.202519030T>CCA350340608BMPR2c.830T>C (p.Leu277Pro)
c.761T>C (p.Leu254Pro)
 ClinVar dbSNP
2g.202519030T>GCA350340609BMPR2c.830T>G (p.Leu277Arg)
c.761T>G (p.Leu254Arg)
2g.202519030T=CA1321539744BMPR2c.830T= (p.Leu277=)
c.761T= (p.Leu254=)
2g.202519031T>ACA430839762BMPR2c.831T>A (p.Leu277=)
c.762T>A (p.Leu254=)
2g.202519031T>CCA430839763BMPR2c.831T>C (p.Leu277=)
c.762T>C (p.Leu254=)
2g.202519031T>GCA430839764BMPR2c.831T>G (p.Leu277=)
c.762T>G (p.Leu254=)
2g.202519032G>ACA350340610BMPR2c.832G>A (p.Val278Met)
c.763G>A (p.Val255Met)
2g.202519032G>CCA350340612BMPR2c.832G>C (p.Val278Leu)
c.763G>C (p.Val255Leu)
2g.202519032G>TCA350340611BMPR2c.832G>T (p.Val278Leu)
c.763G>T (p.Val255Leu)
2g.202519033T>ACA350340613BMPR2c.833T>A (p.Val278Glu)
c.764T>A (p.Val255Glu)
2g.202519033T>CCA350340614BMPR2c.833T>C (p.Val278Ala)
c.764T>C (p.Val255Ala)
2g.202519033T>GCA350340615BMPR2c.833T>G (p.Val278Gly)
c.764T>G (p.Val255Gly)
2g.202519034G>ACA430839765BMPR2c.834G>A (p.Val278=)
c.765G>A (p.Val255=)
2g.202519034G>CCA430839766BMPR2c.834G>C (p.Val278=)
c.765G>C (p.Val255=)
2g.202519034G>TCA430839767BMPR2c.834G>T (p.Val278=)
c.765G>T (p.Val255=)
2g.202519034dupCA2586965538BMPR2c.834dup (p.Met279AspfsTer19)
c.765dup (p.Met256AspfsTer19)
2g.202519035A>CCA350340616BMPR2c.835A>C (p.Met279Leu)
c.766A>C (p.Met256Leu)
2g.202519035A>GCA350340617BMPR2c.835A>G (p.Met279Val)
c.766A>G (p.Met256Val)
2g.202519035A>TCA350340618BMPR2c.835A>T (p.Met279Leu)
c.766A>T (p.Met256Leu)
2g.202519036T>ACA350340619BMPR2c.836T>A (p.Met279Lys)
c.767T>A (p.Met256Lys)
2g.202519036T>CCA350340620BMPR2c.836T>C (p.Met279Thr)
c.767T>C (p.Met256Thr)
2g.202519036T>GCA350340621BMPR2c.836T>G (p.Met279Arg)
c.767T>G (p.Met256Arg)
2g.202519037G>ACA350340622BMPR2c.837G>A (p.Met279Ile)
c.768G>A (p.Met256Ile)
 gnomAD v4
2g.202519037G>CCA350340623BMPR2c.837G>C (p.Met279Ile)
c.768G>C (p.Met256Ile)
2g.202519037G>TCA350340624BMPR2c.837G>T (p.Met279Ile)
c.768G>T (p.Met256Ile)
 gnomAD v4
2g.202519038G>ACA350340625BMPR2c.838G>A (p.Glu280Lys)
c.769G>A (p.Glu257Lys)
2g.202519038G>CCA350340627BMPR2c.838G>C (p.Glu280Gln)
c.769G>C (p.Glu257Gln)
2g.202519038G>TCA350340626BMPR2c.838G>T (p.Glu280Ter)
c.769G>T (p.Glu257Ter)
2g.202519039A>CCA350340628BMPR2c.839A>C (p.Glu280Ala)
c.770A>C (p.Glu257Ala)
2g.202519039A>GCA350340629BMPR2c.839A>G (p.Glu280Gly)
c.770A>G (p.Glu257Gly)
2g.202519039A>TCA350340630BMPR2c.839A>T (p.Glu280Val)
c.770A>T (p.Glu257Val)
2g.202519040G>ACA430839768BMPR2c.840G>A (p.Glu280=)
c.771G>A (p.Glu257=)
 gnomAD v4
2g.202519040G>CCA350340631BMPR2c.840G>C (p.Glu280Asp)
c.771G>C (p.Glu257Asp)
2g.202519040G>TCA350340632BMPR2c.840G>T (p.Glu280Asp)
c.771G>T (p.Glu257Asp)
2g.202519041T>ACA350340633BMPR2c.841T>A (p.Tyr281Asn)
c.772T>A (p.Tyr258Asn)
2g.202519041T>CCA350340634BMPR2c.841T>C (p.Tyr281His)
c.772T>C (p.Tyr258His)
 gnomAD v4
2g.202519041T>GCA350340635BMPR2c.841T>G (p.Tyr281Asp)
c.772T>G (p.Tyr258Asp)
2g.202519042A=CA1321539745BMPR2c.842A= (p.Tyr281=)
c.773A= (p.Tyr258=)
2g.202519042A>CCA350340636BMPR2c.842A>C (p.Tyr281Ser)
c.773A>C (p.Tyr258Ser)
 dbSNP
2g.202519042A>GCA350340637BMPR2c.842A>G (p.Tyr281Cys)
c.773A>G (p.Tyr258Cys)
 gnomAD v4
2g.202519042A>TCA350340638BMPR2c.842A>T (p.Tyr281Phe)
c.773A>T (p.Tyr258Phe)
2g.202519043C>ACA350340639BMPR2c.843C>A (p.Tyr281Ter)
c.774C>A (p.Tyr258Ter)
2g.202519043C=CA1321539746BMPR2c.843C= (p.Tyr281=)
c.774C= (p.Tyr258=)
2g.202519043C>GCA350340640BMPR2c.843C>G (p.Tyr281Ter)
c.774C>G (p.Tyr258Ter)
 ClinVar dbSNP
2g.202519043C>TCA430839770BMPR2c.843C>T (p.Tyr281=)
c.774C>T (p.Tyr258=)
2g.202519044T>ACA350340643BMPR2c.844T>A (p.Tyr282Asn)
c.775T>A (p.Tyr259Asn)
2g.202519044T>CCA350340641BMPR2c.844T>C (p.Tyr282His)
c.775T>C (p.Tyr259His)
2g.202519044T>GCA350340642BMPR2c.844T>G (p.Tyr282Asp)
c.775T>G (p.Tyr259Asp)
2g.202519045A>CCA350340644BMPR2c.845A>C (p.Tyr282Ser)
c.776A>C (p.Tyr259Ser)
2g.202519045A>GCA350340645BMPR2c.845A>G (p.Tyr282Cys)
c.776A>G (p.Tyr259Cys)
2g.202519045A>TCA350340646BMPR2c.845A>T (p.Tyr282Phe)
c.776A>T (p.Tyr259Phe)
2g.202519046T>ACA350340647BMPR2c.846T>A (p.Tyr282Ter)
c.777T>A (p.Tyr259Ter)
 ClinVar dbSNP COSMIC
2g.202519046T>CCA430839771BMPR2c.846T>C (p.Tyr282=)
c.777T>C (p.Tyr259=)
2g.202519046T>GCA324555BMPR2c.846T>G (p.Tyr282Ter)
c.777T>G (p.Tyr259Ter)
 ClinVar dbSNP
2g.202519046T=CA1321539747BMPR2c.846T= (p.Tyr282=)
c.777T= (p.Tyr259=)
2g.202519047C>ACA350340648BMPR2c.847C>A (p.Pro283Thr)
c.778C>A (p.Pro260Thr)
 COSMIC
2g.202519047C=CA1321539748BMPR2c.847C= (p.Pro283=)
c.778C= (p.Pro260=)
2g.202519047C>GCA350340649BMPR2c.847C>G (p.Pro283Ala)
c.778C>G (p.Pro260Ala)
2g.202519047C>TCA2061214BMPR2c.847C>T (p.Pro283Ser)
c.778C>T (p.Pro260Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202519048C>ACA350340650BMPR2c.848C>A (p.Pro283His)
c.779C>A (p.Pro260His)
 gnomAD v4
2g.202519048C=CA1321539749BMPR2c.848C= (p.Pro283=)
c.779C= (p.Pro260=)
2g.202519048C>GCA350340651BMPR2c.848C>G (p.Pro283Arg)
c.779C>G (p.Pro260Arg)
 dbSNP gnomAD v2 gnomAD v4
2g.202519048C>TCA350340652BMPR2c.848C>T (p.Pro283Leu)
c.779C>T (p.Pro260Leu)
2g.202519048_202519049insATACA2586965539BMPR2c.848_849insATA (p.Pro283_Asn284insTyr)
c.779_780insATA (p.Pro260_Asn261insTyr)
2g.202519049C>ACA430839772BMPR2c.849C>A (p.Pro283=)
c.780C>A (p.Pro260=)
2g.202519049C=CA1321539750BMPR2c.849C= (p.Pro283=)
c.780C= (p.Pro260=)
2g.202519049C>GCA430839773BMPR2c.849C>G (p.Pro283=)
c.780C>G (p.Pro260=)
2g.202519049C>TCA430839774BMPR2c.849C>T (p.Pro283=)
c.780C>T (p.Pro260=)
 dbSNP gnomAD v2 gnomAD v4
2g.202519050A>CCA350340653BMPR2c.850A>C (p.Asn284His)
c.781A>C (p.Asn261His)
2g.202519050A>GCA350340655BMPR2c.850A>G (p.Asn284Asp)
c.781A>G (p.Asn261Asp)
2g.202519050A>TCA350340654BMPR2c.850A>T (p.Asn284Tyr)
c.781A>T (p.Asn261Tyr)
2g.202519051A=CA1321539751BMPR2c.851A= (p.Asn284=)
c.782A= (p.Asn261=)
2g.202519051A>CCA350340656BMPR2c.851A>C (p.Asn284Thr)
c.782A>C (p.Asn261Thr)
2g.202519051A>GCA2061215BMPR2c.851A>G (p.Asn284Ser)
c.782A>G (p.Asn261Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202519051A>TCA350340657BMPR2c.851A>T (p.Asn284Ile)
c.782A>T (p.Asn261Ile)
2g.202519052T>ACA350340658BMPR2c.852T>A (p.Asn284Lys)
c.783T>A (p.Asn261Lys)
2g.202519052T>CCA430839775BMPR2c.852T>C (p.Asn284=)
c.783T>C (p.Asn261=)
 dbSNP
2g.202519052T>GCA350340659BMPR2c.852T>G (p.Asn284Lys)
c.783T>G (p.Asn261Lys)
2g.202519052T=CA1321539752BMPR2c.852T= (p.Asn284=)
c.783T= (p.Asn261=)
2g.202519052_202519053insACA915941648BMPR2c.852_852+1insA (n.852_852+1insA)
c.783_783+1insA (n.783_783+1insA)
 ClinVar dbSNP
2g.202519053G>ACA350340660BMPR2c.852+1G>A (n.852+1G>A)
c.783+1G>A (n.783+1G>A)
 ClinVar dbSNP
2g.202519053G>CCA350340661BMPR2c.852+1G>C (n.852+1G>C)
c.783+1G>C (n.783+1G>C)
 ClinVar dbSNP
2g.202519053G=CA1321539753BMPR2c.852+1G= (n.852+1G=)
c.783+1G= (n.783+1G=)
2g.202519053G>TCA350340662BMPR2c.852+1G>T (n.852+1G>T)
c.783+1G>T (n.783+1G>T)
2g.202519054T>ACA350340663BMPR2c.852+2T>A (n.852+2T>A)
c.783+2T>A (n.783+2T>A)
2g.202519054T>CCA350340664BMPR2c.852+2T>C (n.852+2T>C)
c.783+2T>C (n.783+2T>C)
2g.202519054T>GCA350340665BMPR2c.852+2T>G (n.852+2T>G)
c.783+2T>G (n.783+2T>G)
2g.202519055A>CCA2586965541BMPR2c.852+3A>C (n.852+3A>C)
c.783+3A>C (n.783+3A>C)
2g.202519056A=CA1321539754BMPR2c.852+4A= (n.852+4A=)
c.783+4A= (n.783+4A=)
2g.202519056A>GCA538972598BMPR2c.852+4A>G (n.852+4A>G)
c.783+4A>G (n.783+4A>G)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202519060C=CA1321539755BMPR2c.852+8C= (n.852+8C=)
c.783+8C= (n.783+8C=)
2g.202519060C>GCA1321539756BMPR2c.852+8C>G (n.852+8C>G)
c.783+8C>G (n.783+8C>G)
 dbSNP
2g.202519064A=CA1321539757BMPR2c.852+12A= (n.852+12A=)
c.783+12A= (n.783+12A=)
2g.202519064A>GCA1321539758BMPR2c.852+12A>G (n.852+12A>G)
c.783+12A>G (n.783+12A>G)
 dbSNP gnomAD v4
2g.202519065T>CCA2577215592BMPR2c.852+13T>C (n.852+13T>C)
c.783+13T>C (n.783+13T>C)
 gnomAD v4
2g.202519065T>GCA2662705632BMPR2c.852+13T>G (n.852+13T>G)
c.783+13T>G (n.783+13T>G)
 gnomAD v4
2g.202519067G>ACA763426625BMPR2c.852+15G>A (n.852+15G>A)
c.783+15G>A (n.783+15G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.202519067G=CA1321539759BMPR2c.852+15G= (n.852+15G=)
c.783+15G= (n.783+15G=)

Number of alleles fetched