Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202513716T>CCA1321537300BMPR2c.419-3T>C (n.419-3T>C)
c.350-3T>C (n.350-3T>C)
 dbSNP
2g.202513716T=CA1321537299BMPR2c.419-3T= (n.419-3T=)
c.350-3T= (n.350-3T=)
2g.202513717A=CA1321537301BMPR2c.419-2A= (n.419-2A=)
c.350-2A= (n.350-2A=)
2g.202513717A>CCA350337780BMPR2c.419-2A>C (n.419-2A>C)
c.350-2A>C (n.350-2A>C)
2g.202513717A>GCA350337784BMPR2c.419-2A>G (n.419-2A>G)
c.350-2A>G (n.350-2A>G)
2g.202513717A>TCA2061126BMPR2c.419-2A>T (n.419-2A>T)
c.350-2A>T (n.350-2A>T)
 dbSNP ExAC
2g.202513718G>ACA350337788BMPR2c.419-1G>A (n.419-1G>A)
c.350-1G>A (n.350-1G>A)
2g.202513718G>CCA350337792BMPR2c.419-1G>C (n.419-1G>C)
c.350-1G>C (n.350-1G>C)
2g.202513718G>TCA350337794BMPR2c.419-1G>T (n.419-1G>T)
c.350-1G>T (n.350-1G>T)
 ClinVar dbSNP gnomAD v4
2g.202513719G>ACA350337797BMPR2c.419G>A (p.Ser140Asn)
c.350G>A (p.Ser117Asn)
2g.202513719G>CCA350337799BMPR2c.419G>C (p.Ser140Thr)
c.350G>C (p.Ser117Thr)
2g.202513719G=CA1321537302BMPR2c.419G= (p.Ser140=)
c.350G= (p.Ser117=)
2g.202513719G>TCA350337802BMPR2c.419G>T (p.Ser140Ile)
c.350G>T (p.Ser117Ile)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202513720T>ACA350337805BMPR2c.420T>A (p.Ser140Arg)
c.351T>A (p.Ser117Arg)
2g.202513720T>CCA430838381BMPR2c.420T>C (p.Ser140=)
c.351T>C (p.Ser117=)
2g.202513720T>GCA350337807BMPR2c.420T>G (p.Ser140Arg)
c.351T>G (p.Ser117Arg)
2g.202513720T=CA1321537303BMPR2c.420T= (p.Ser140=)
c.351T= (p.Ser117=)
2g.202513720_202513721insGCA645293798BMPR2c.420_421insG (p.Pro141AlafsTer6)
c.351_352insG (p.Pro118AlafsTer6)
 ClinVar dbSNP
2g.202513721C>ACA350337810BMPR2c.421C>A (p.Pro141Thr)
c.352C>A (p.Pro118Thr)
 gnomAD v4
2g.202513721C>GCA350337811BMPR2c.421C>G (p.Pro141Ala)
c.352C>G (p.Pro118Ala)
2g.202513721C>TCA350337814BMPR2c.421C>T (p.Pro141Ser)
c.352C>T (p.Pro118Ser)
2g.202513722C>ACA350337823BMPR2c.422C>A (p.Pro141Gln)
c.353C>A (p.Pro118Gln)
2g.202513722C>GCA350337820BMPR2c.422C>G (p.Pro141Arg)
c.353C>G (p.Pro118Arg)
2g.202513722C>TCA350337818BMPR2c.422C>T (p.Pro141Leu)
c.353C>T (p.Pro118Leu)
 gnomAD v4 COSMIC
2g.202513723A>CCA430838385BMPR2c.423A>C (p.Pro141=)
c.354A>C (p.Pro118=)
2g.202513723A>GCA430838384BMPR2c.423A>G (p.Pro141=)
c.354A>G (p.Pro118=)
2g.202513723A>TCA430838383BMPR2c.423A>T (p.Pro141=)
c.354A>T (p.Pro118=)
2g.202513724C>ACA350337826BMPR2c.424C>A (p.Pro142Thr)
c.355C>A (p.Pro119Thr)
2g.202513724C=CA1321537304BMPR2c.424C= (p.Pro142=)
c.355C= (p.Pro119=)
2g.202513724C>GCA350337829BMPR2c.424C>G (p.Pro142Ala)
c.355C>G (p.Pro119Ala)
2g.202513724C>TCA350337831BMPR2c.424C>T (p.Pro142Ser)
c.355C>T (p.Pro119Ser)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202513725C>ACA350337835BMPR2c.425C>A (p.Pro142His)
c.356C>A (p.Pro119His)
2g.202513725C>GCA350337838BMPR2c.425C>G (p.Pro142Arg)
c.356C>G (p.Pro119Arg)
2g.202513725C>TCA350337840BMPR2c.425C>T (p.Pro142Leu)
c.356C>T (p.Pro119Leu)
2g.202513726T>ACA430838388BMPR2c.426T>A (p.Pro142=)
c.357T>A (p.Pro119=)
 gnomAD v4
2g.202513726T>CCA430838389BMPR2c.426T>C (p.Pro142=)
c.357T>C (p.Pro119=)
2g.202513726T>GCA430838390BMPR2c.426T>G (p.Pro142=)
c.357T>G (p.Pro119=)
2g.202513727C>ACA350337844BMPR2c.427C>A (p.His143Asn)
c.358C>A (p.His120Asn)
2g.202513727C=CA1321537305BMPR2c.427C= (p.His143=)
c.358C= (p.His120=)
2g.202513727C>GCA350337848BMPR2c.427C>G (p.His143Asp)
c.358C>G (p.His120Asp)
 dbSNP gnomAD v4
2g.202513727C>TCA350337851BMPR2c.427C>T (p.His143Tyr)
c.358C>T (p.His120Tyr)
2g.202513728A=CA1321537306BMPR2c.428A= (p.His143=)
c.359A= (p.His120=)
2g.202513728A>CCA350337855BMPR2c.428A>C (p.His143Pro)
c.359A>C (p.His120Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202513728A>GCA350337858BMPR2c.428A>G (p.His143Arg)
c.359A>G (p.His120Arg)
 gnomAD v4
2g.202513728A>TCA350337860BMPR2c.428A>T (p.His143Leu)
c.359A>T (p.His120Leu)
2g.202513729T>ACA350337863BMPR2c.429T>A (p.His143Gln)
c.360T>A (p.His120Gln)
2g.202513729T>CCA430838391BMPR2c.429T>C (p.His143=)
c.360T>C (p.His120=)
2g.202513729T>GCA350337866BMPR2c.429T>G (p.His143Gln)
c.360T>G (p.His120Gln)
2g.202513730T>ACA350337870BMPR2c.430T>A (p.Ser144Thr)
c.361T>A (p.Ser121Thr)
2g.202513730T>CCA350337871BMPR2c.430T>C (p.Ser144Pro)
c.361T>C (p.Ser121Pro)
2g.202513730T>GCA350337873BMPR2c.430T>G (p.Ser144Ala)
c.361T>G (p.Ser121Ala)
2g.202513731C>ACA350337876BMPR2c.431C>A (p.Ser144Ter)
c.362C>A (p.Ser121Ter)
 gnomAD v4
2g.202513731C>GCA350337878BMPR2c.431C>G (p.Ser144Ter)
c.362C>G (p.Ser121Ter)
2g.202513731C>TCA350337880BMPR2c.431C>T (p.Ser144Leu)
c.362C>T (p.Ser121Leu)
 dbSNP
2g.202513732A>CCA430838392BMPR2c.432A>C (p.Ser144=)
c.363A>C (p.Ser121=)
2g.202513732A>GCA430838393BMPR2c.432A>G (p.Ser144=)
c.363A>G (p.Ser121=)
 gnomAD v4
2g.202513732A>TCA430838394BMPR2c.432A>T (p.Ser144=)
c.363A>T (p.Ser121=)
2g.202513732_202513733delinsATCA1321537307BMPR2c.432_433delinsAT (p.Ser144=)
c.363_364delinsAT (p.Ser121=)
2g.202513733T>ACA350337888BMPR2c.433T>A (p.Phe145Ile)
c.364T>A (p.Phe122Ile)
2g.202513733T>CCA350337882BMPR2c.433T>C (p.Phe145Leu)
c.364T>C (p.Phe122Leu)
2g.202513733T>GCA350337885BMPR2c.433T>G (p.Phe145Val)
c.364T>G (p.Phe122Val)
2g.202513735delCA645293799BMPR2c.435del (p.Phe145LeufsTer7)
c.366del (p.Phe122LeufsTer7)
 ClinVar dbSNP
2g.202513734T>ACA350337891BMPR2c.434T>A (p.Phe145Tyr)
c.365T>A (p.Phe122Tyr)
2g.202513734T>CCA350337894BMPR2c.434T>C (p.Phe145Ser)
c.365T>C (p.Phe122Ser)
2g.202513734T>GCA350337895BMPR2c.434T>G (p.Phe145Cys)
c.365T>G (p.Phe122Cys)
2g.202513735T>ACA350337899BMPR2c.435T>A (p.Phe145Leu)
c.366T>A (p.Phe122Leu)
2g.202513735T>CCA430838395BMPR2c.435T>C (p.Phe145=)
c.366T>C (p.Phe122=)
2g.202513735T>GCA350337901BMPR2c.435T>G (p.Phe145Leu)
c.366T>G (p.Phe122Leu)
2g.202513736A>CCA350337904BMPR2c.436A>C (p.Asn146His)
c.367A>C (p.Asn123His)
2g.202513736A>GCA350337910BMPR2c.436A>G (p.Asn146Asp)
c.367A>G (p.Asn123Asp)
2g.202513736A>TCA350337907BMPR2c.436A>T (p.Asn146Tyr)
c.367A>T (p.Asn123Tyr)
2g.202513737A>CCA350337913BMPR2c.437A>C (p.Asn146Thr)
c.368A>C (p.Asn123Thr)
2g.202513737A>GCA350337916BMPR2c.437A>G (p.Asn146Ser)
c.368A>G (p.Asn123Ser)
2g.202513737A>TCA350337919BMPR2c.437A>T (p.Asn146Ile)
c.368A>T (p.Asn123Ile)
2g.202513738C>ACA350337922BMPR2c.438C>A (p.Asn146Lys)
c.369C>A (p.Asn123Lys)
2g.202513738C=CA1321537308BMPR2c.438C= (p.Asn146=)
c.369C= (p.Asn123=)
2g.202513738C>GCA350337927BMPR2c.438C>G (p.Asn146Lys)
c.369C>G (p.Asn123Lys)
2g.202513738C>TCA2061127BMPR2c.438C>T (p.Asn146=)
c.369C>T (p.Asn123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513739C>ACA430838396BMPR2c.439C>A (p.Arg147=)
c.370C>A (p.Arg124=)
2g.202513739C=CA1321537309BMPR2c.439C= (p.Arg147=)
c.370C= (p.Arg124=)
2g.202513739C>GCA350337930BMPR2c.439C>G (p.Arg147Gly)
c.370C>G (p.Arg124Gly)
 gnomAD v4
2g.202513739C>TCA351778BMPR2c.439C>T (p.Arg147Ter)
c.370C>T (p.Arg124Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202513740G>ACA2061128BMPR2c.440G>A (p.Arg147Gln)
c.371G>A (p.Arg124Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202513740G>CCA350337936BMPR2c.440G>C (p.Arg147Pro)
c.371G>C (p.Arg124Pro)
 gnomAD v4
2g.202513740G=CA1321537310BMPR2c.440G= (p.Arg147=)
c.371G= (p.Arg124=)
2g.202513740G>TCA350337938BMPR2c.440G>T (p.Arg147Leu)
c.371G>T (p.Arg124Leu)
 gnomAD v4
2g.202513741A=CA1321537311BMPR2c.441A= (p.Arg147=)
c.372A= (p.Arg124=)
2g.202513741A>CCA430838397BMPR2c.441A>C (p.Arg147=)
c.372A>C (p.Arg124=)
2g.202513741A>GCA430838398BMPR2c.441A>G (p.Arg147=)
c.372A>G (p.Arg124=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202513741A>TCA430838399BMPR2c.441A>T (p.Arg147=)
c.372A>T (p.Arg124=)
 dbSNP gnomAD v4
2g.202513742G>ACA350337944BMPR2c.442G>A (p.Asp148Asn)
c.373G>A (p.Asp125Asn)
2g.202513742G>CCA350337947BMPR2c.442G>C (p.Asp148His)
c.373G>C (p.Asp125His)
2g.202513742G>TCA350337942BMPR2c.442G>T (p.Asp148Tyr)
c.373G>T (p.Asp125Tyr)
2g.202513742_202513743delinsGACA1321537312BMPR2c.442_443delinsGA (p.Asp148=)
c.373_374delinsGA (p.Asp125=)
2g.202513743delCA916082274BMPR2c.443del (p.Asp148ValfsTer4)
c.374del (p.Asp125ValfsTer4)
 ClinVar dbSNP
2g.202513743A>CCA350337955BMPR2c.443A>C (p.Asp148Ala)
c.374A>C (p.Asp125Ala)
2g.202513743A>GCA350337950BMPR2c.443A>G (p.Asp148Gly)
c.374A>G (p.Asp125Gly)
2g.202513743A>TCA350337952BMPR2c.443A>T (p.Asp148Val)
c.374A>T (p.Asp125Val)
2g.202513744T>ACA350337958BMPR2c.444T>A (p.Asp148Glu)
c.375T>A (p.Asp125Glu)
2g.202513744T>CCA430838400BMPR2c.444T>C (p.Asp148=)
c.375T>C (p.Asp125=)
2g.202513744T>GCA350337961BMPR2c.444T>G (p.Asp148Glu)
c.375T>G (p.Asp125Glu)
 gnomAD v4
2g.202513745G>ACA2061129BMPR2c.445G>A (p.Glu149Lys)
c.376G>A (p.Glu126Lys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513745G>CCA350337967BMPR2c.445G>C (p.Glu149Gln)
c.376G>C (p.Glu126Gln)
2g.202513745G=CA1321537313BMPR2c.445G= (p.Glu149=)
c.376G= (p.Glu126=)
2g.202513745G>TCA350337969BMPR2c.445G>T (p.Glu149Ter)
c.376G>T (p.Glu126Ter)
2g.202513746A>CCA350337977BMPR2c.446A>C (p.Glu149Ala)
c.377A>C (p.Glu126Ala)
2g.202513746A>GCA350337972BMPR2c.446A>G (p.Glu149Gly)
c.377A>G (p.Glu126Gly)
 gnomAD v4
2g.202513746A>TCA350337975BMPR2c.446A>T (p.Glu149Val)
c.377A>T (p.Glu126Val)
2g.202513747G>ACA430838401BMPR2c.447G>A (p.Glu149=)
c.378G>A (p.Glu126=)
 dbSNP
2g.202513747G>CCA350337981BMPR2c.447G>C (p.Glu149Asp)
c.378G>C (p.Glu126Asp)
2g.202513747G=CA1321537314BMPR2c.447G= (p.Glu149=)
c.378G= (p.Glu126=)
2g.202513747G>TCA350337983BMPR2c.447G>T (p.Glu149Asp)
c.378G>T (p.Glu126Asp)
2g.202513748A=CA1321537315BMPR2c.448A= (p.Thr150=)
c.379A= (p.Thr127=)
2g.202513748A>CCA350337986BMPR2c.448A>C (p.Thr150Pro)
c.379A>C (p.Thr127Pro)
2g.202513748A>GCA350337988BMPR2c.448A>G (p.Thr150Ala)
c.379A>G (p.Thr127Ala)
2g.202513748A>TCA350337991BMPR2c.448A>T (p.Thr150Ser)
c.379A>T (p.Thr127Ser)
2g.202513749C>ACA350337995BMPR2c.449C>A (p.Thr150Lys)
c.380C>A (p.Thr127Lys)
2g.202513749C=CA1321537316BMPR2c.449C= (p.Thr150=)
c.380C= (p.Thr127=)
2g.202513749C>GCA350338000BMPR2c.449C>G (p.Thr150Arg)
c.380C>G (p.Thr127Arg)
2g.202513749C>TCA350337997BMPR2c.449C>T (p.Thr150Ile)
c.380C>T (p.Thr127Ile)
 dbSNP gnomAD v3 gnomAD v4
2g.202513749dupCA645293800BMPR2c.449dup (p.Ile151AsnfsTer30)
c.380dup (p.Ile128AsnfsTer30)
 ClinVar dbSNP
2g.202513750A=CA1321537317BMPR2c.450A= (p.Thr150=)
c.381A= (p.Thr127=)
2g.202513750A>CCA430838402BMPR2c.450A>C (p.Thr150=)
c.381A>C (p.Thr127=)
2g.202513750A>GCA430838403BMPR2c.450A>G (p.Thr150=)
c.381A>G (p.Thr127=)
 dbSNP gnomAD v4
2g.202513750A>TCA430838404BMPR2c.450A>T (p.Thr150=)
c.381A>T (p.Thr127=)
2g.202513751delCA2586970997BMPR2c.451del (p.Ile151Ter)
c.382del (p.Ile128Ter)
2g.202513751A>CCA350338003BMPR2c.451A>C (p.Ile151Leu)
c.382A>C (p.Ile128Leu)
2g.202513751A>GCA350338004BMPR2c.451A>G (p.Ile151Val)
c.382A>G (p.Ile128Val)
2g.202513751A>TCA350338005BMPR2c.451A>T (p.Ile151Leu)
c.382A>T (p.Ile128Leu)
2g.202513752_202513753delCA2586970998BMPR2c.452_453del (p.Ile151AsnfsTer29)
c.383_384del (p.Ile128AsnfsTer29)
2g.202513752T>ACA350338010BMPR2c.452T>A (p.Ile151Lys)
c.383T>A (p.Ile128Lys)
2g.202513752T>CCA64012002BMPR2c.452T>C (p.Ile151Thr)
c.383T>C (p.Ile128Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.202513752T>GCA350338013BMPR2c.452T>G (p.Ile151Arg)
c.383T>G (p.Ile128Arg)
2g.202513752T=CA1321537318BMPR2c.452T= (p.Ile151=)
c.383T= (p.Ile128=)
2g.202513753A=CA1321537319BMPR2c.453A= (p.Ile151=)
c.384A= (p.Ile128=)
2g.202513753A>CCA64012007BMPR2c.453A>C (p.Ile151=)
c.384A>C (p.Ile128=)
 dbSNP gnomAD v2 gnomAD v4
2g.202513753A>GCA350338019BMPR2c.453A>G (p.Ile151Met)
c.384A>G (p.Ile128Met)
2g.202513753A>TCA430838405BMPR2c.453A>T (p.Ile151=)
c.384A>T (p.Ile128=)
2g.202513754A>CCA350338023BMPR2c.454A>C (p.Ile152Leu)
c.385A>C (p.Ile129Leu)
2g.202513754A>GCA350338027BMPR2c.454A>G (p.Ile152Val)
c.385A>G (p.Ile129Val)
 gnomAD v4
2g.202513754A>TCA350338029BMPR2c.454A>T (p.Ile152Phe)
c.385A>T (p.Ile129Phe)
2g.202513755T>ACA350338031BMPR2c.455T>A (p.Ile152Asn)
c.386T>A (p.Ile129Asn)
2g.202513755T>CCA350338036BMPR2c.455T>C (p.Ile152Thr)
c.386T>C (p.Ile129Thr)
2g.202513755T>GCA350338032BMPR2c.455T>G (p.Ile152Ser)
c.386T>G (p.Ile129Ser)
2g.202513756C>ACA430838407BMPR2c.456C>A (p.Ile152=)
c.387C>A (p.Ile129=)
2g.202513756C>GCA350338042BMPR2c.456C>G (p.Ile152Met)
c.387C>G (p.Ile129Met)
2g.202513756C>TCA430838409BMPR2c.456C>T (p.Ile152=)
c.387C>T (p.Ile129=)
2g.202513757A=CA1321537320BMPR2c.457A= (p.Ile153=)
c.388A= (p.Ile130=)
2g.202513757A>CCA350338044BMPR2c.457A>C (p.Ile153Leu)
c.388A>C (p.Ile130Leu)
2g.202513757A>GCA2061130BMPR2c.457A>G (p.Ile153Val)
c.388A>G (p.Ile130Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513757A>TCA350338049BMPR2c.457A>T (p.Ile153Phe)
c.388A>T (p.Ile130Phe)
2g.202513758T>ACA350338052BMPR2c.458T>A (p.Ile153Asn)
c.389T>A (p.Ile130Asn)
2g.202513758T>CCA350338055BMPR2c.458T>C (p.Ile153Thr)
c.389T>C (p.Ile130Thr)
2g.202513758T>GCA350338057BMPR2c.458T>G (p.Ile153Ser)
c.389T>G (p.Ile130Ser)
2g.202513759delCA2586970999BMPR2c.459del (p.Ile153MetfsTer9)
c.390del (p.Ile130MetfsTer9)
2g.202513759T>ACA430838410BMPR2c.459T>A (p.Ile153=)
c.390T>A (p.Ile130=)
2g.202513759T>CCA430838411BMPR2c.459T>C (p.Ile153=)
c.390T>C (p.Ile130=)
2g.202513759T>GCA350338061BMPR2c.459T>G (p.Ile153Met)
c.390T>G (p.Ile130Met)
 gnomAD v4
2g.202513760G>ACA350338064BMPR2c.460G>A (p.Ala154Thr)
c.391G>A (p.Ala131Thr)
2g.202513760G>CCA350338067BMPR2c.460G>C (p.Ala154Pro)
c.391G>C (p.Ala131Pro)
2g.202513760G>TCA350338068BMPR2c.460G>T (p.Ala154Ser)
c.391G>T (p.Ala131Ser)
2g.202513761C>ACA350338075BMPR2c.461C>A (p.Ala154Asp)
c.392C>A (p.Ala131Asp)
2g.202513761C=CA1321537321BMPR2c.461C= (p.Ala154=)
c.392C= (p.Ala131=)
2g.202513761C>GCA350338072BMPR2c.461C>G (p.Ala154Gly)
c.392C>G (p.Ala131Gly)
 ClinVar dbSNP
2g.202513761C>TCA64012032BMPR2c.461C>T (p.Ala154Val)
c.392C>T (p.Ala131Val)
 dbSNP gnomAD v2 gnomAD v4
2g.202513762T>ACA430838412BMPR2c.462T>A (p.Ala154=)
c.393T>A (p.Ala131=)
2g.202513762T>CCA430838413BMPR2c.462T>C (p.Ala154=)
c.393T>C (p.Ala131=)
2g.202513762T>GCA430838414BMPR2c.462T>G (p.Ala154=)
c.393T>G (p.Ala131=)
2g.202513763T>ACA350338078BMPR2c.463T>A (p.Leu155Met)
c.394T>A (p.Leu132Met)
2g.202513763T>CCA430838415BMPR2c.463T>C (p.Leu155=)
c.394T>C (p.Leu132=)
 dbSNP gnomAD v2 gnomAD v4
2g.202513763T>GCA350338080BMPR2c.463T>G (p.Leu155Val)
c.394T>G (p.Leu132Val)
2g.202513763T=CA1321537322BMPR2c.463T= (p.Leu155=)
c.394T= (p.Leu132=)
2g.202513764T>ACA350338084BMPR2c.464T>A (p.Leu155Ter)
c.395T>A (p.Leu132Ter)
 COSMIC
2g.202513764T>CCA350338086BMPR2c.464T>C (p.Leu155Ser)
c.395T>C (p.Leu132Ser)
2g.202513764T>GCA350338089BMPR2c.464T>G (p.Leu155Trp)
c.395T>G (p.Leu132Trp)
2g.202513765G>ACA430838416BMPR2c.465G>A (p.Leu155=)
c.396G>A (p.Leu132=)
 ClinVar COSMIC
2g.202513765G>CCA350338091BMPR2c.465G>C (p.Leu155Phe)
c.396G>C (p.Leu132Phe)
2g.202513765G>TCA350338094BMPR2c.465G>T (p.Leu155Phe)
c.396G>T (p.Leu132Phe)
2g.202513766G>ACA350338098BMPR2c.466G>A (p.Ala156Thr)
c.397G>A (p.Ala133Thr)
 COSMIC
2g.202513766G>CCA350338101BMPR2c.466G>C (p.Ala156Pro)
c.397G>C (p.Ala133Pro)
2g.202513766G=CA1321537323BMPR2c.466G= (p.Ala156=)
c.397G= (p.Ala133=)
2g.202513766G>TCA350338103BMPR2c.466G>T (p.Ala156Ser)
c.397G>T (p.Ala133Ser)
 dbSNP gnomAD v2 gnomAD v4
2g.202513767C>ACA350338106BMPR2c.467C>A (p.Ala156Glu)
c.398C>A (p.Ala133Glu)
2g.202513767C=CA1321537324BMPR2c.467C= (p.Ala156=)
c.398C= (p.Ala133=)
2g.202513767C>GCA350338108BMPR2c.467C>G (p.Ala156Gly)
c.398C>G (p.Ala133Gly)
2g.202513767C>TCA2061131BMPR2c.467C>T (p.Ala156Val)
c.398C>T (p.Ala133Val)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513768A>CCA430838419BMPR2c.468A>C (p.Ala156=)
c.399A>C (p.Ala133=)
2g.202513768A>GCA430838418BMPR2c.468A>G (p.Ala156=)
c.399A>G (p.Ala133=)
 gnomAD v4 COSMIC
2g.202513768A>TCA430838417BMPR2c.468A>T (p.Ala156=)
c.399A>T (p.Ala133=)
2g.202513769T>ACA350338117BMPR2c.469T>A (p.Ser157Thr)
c.400T>A (p.Ser134Thr)
2g.202513769T>CCA350338119BMPR2c.469T>C (p.Ser157Pro)
c.400T>C (p.Ser134Pro)
2g.202513769T>GCA350338114BMPR2c.469T>G (p.Ser157Ala)
c.400T>G (p.Ser134Ala)
2g.202513770C>ACA350338124BMPR2c.470C>A (p.Ser157Ter)
c.401C>A (p.Ser134Ter)
2g.202513770C=CA1321537325BMPR2c.470C= (p.Ser157=)
c.401C= (p.Ser134=)
2g.202513770C>GCA350338120BMPR2c.470C>G (p.Ser157Ter)
c.401C>G (p.Ser134Ter)
 ClinVar dbSNP
2g.202513770C>TCA350338122BMPR2c.470C>T (p.Ser157Leu)
c.401C>T (p.Ser134Leu)
 dbSNP gnomAD v4
2g.202513771A>CCA430838420BMPR2c.471A>C (p.Ser157=)
c.402A>C (p.Ser134=)
2g.202513771A>GCA430838422BMPR2c.471A>G (p.Ser157=)
c.402A>G (p.Ser134=)
2g.202513771A>TCA430838421BMPR2c.471A>T (p.Ser157=)
c.402A>T (p.Ser134=)
2g.202513772G>ACA350338127BMPR2c.472G>A (p.Val158Ile)
c.403G>A (p.Val135Ile)
2g.202513772G>CCA350338129BMPR2c.472G>C (p.Val158Leu)
c.403G>C (p.Val135Leu)
2g.202513772G>TCA350338131BMPR2c.472G>T (p.Val158Phe)
c.403G>T (p.Val135Phe)
2g.202513773T>ACA350338136BMPR2c.473T>A (p.Val158Asp)
c.404T>A (p.Val135Asp)
2g.202513773T>CCA350338139BMPR2c.473T>C (p.Val158Ala)
c.404T>C (p.Val135Ala)
2g.202513773T>GCA350338140BMPR2c.473T>G (p.Val158Gly)
c.404T>G (p.Val135Gly)
2g.202513776_202513777dupCA2586971000BMPR2c.476_477dup (p.Val160LeufsTer3)
c.407_408dup (p.Val137LeufsTer3)
2g.202513774C>ACA430838423BMPR2c.474C>A (p.Val158=)
c.405C>A (p.Val135=)
2g.202513774C>GCA430838424BMPR2c.474C>G (p.Val158=)
c.405C>G (p.Val135=)
2g.202513774C>TCA430838425BMPR2c.474C>T (p.Val158=)
c.405C>T (p.Val135=)
 gnomAD v4
2g.202513775T>ACA350338144BMPR2c.475T>A (p.Ser159Thr)
c.406T>A (p.Ser136Thr)
2g.202513775T>CCA350338146BMPR2c.475T>C (p.Ser159Pro)
c.406T>C (p.Ser136Pro)
2g.202513775T>GCA350338149BMPR2c.475T>G (p.Ser159Ala)
c.406T>G (p.Ser136Ala)
 gnomAD v4
2g.202513776C>ACA350338160BMPR2c.476C>A (p.Ser159Tyr)
c.407C>A (p.Ser136Tyr)
2g.202513776C>GCA350338155BMPR2c.476C>G (p.Ser159Cys)
c.407C>G (p.Ser136Cys)
 gnomAD v4
2g.202513776C>TCA350338153BMPR2c.476C>T (p.Ser159Phe)
c.407C>T (p.Ser136Phe)
2g.202513777T>ACA430838426BMPR2c.477T>A (p.Ser159=)
c.408T>A (p.Ser136=)
2g.202513777T>CCA430838427BMPR2c.477T>C (p.Ser159=)
c.408T>C (p.Ser136=)
2g.202513777T>GCA430838428BMPR2c.477T>G (p.Ser159=)
c.408T>G (p.Ser136=)
2g.202513778_202513779delCA2586971001BMPR2c.478_479del (p.Val160IlefsTer20)
c.409_410del (p.Val137IlefsTer20)
2g.202513778G>ACA350338164BMPR2c.478G>A (p.Val160Ile)
c.409G>A (p.Val137Ile)
2g.202513778G>CCA350338167BMPR2c.478G>C (p.Val160Leu)
c.409G>C (p.Val137Leu)
2g.202513778G>TCA350338169BMPR2c.478G>T (p.Val160Leu)
c.409G>T (p.Val137Leu)
2g.202513779T>ACA350338173BMPR2c.479T>A (p.Val160Glu)
c.410T>A (p.Val137Glu)
2g.202513779T>CCA350338176BMPR2c.479T>C (p.Val160Ala)
c.410T>C (p.Val137Ala)
2g.202513779T>GCA350338179BMPR2c.479T>G (p.Val160Gly)
c.410T>G (p.Val137Gly)
2g.202513779dupCA2586971002BMPR2c.479dup (p.Leu161IlefsTer20)
c.410dup (p.Leu138IlefsTer20)
2g.202513780A=CA1321537326BMPR2c.480A= (p.Val160=)
c.411A= (p.Val137=)
2g.202513780A>CCA430838429BMPR2c.480A>C (p.Val160=)
c.411A>C (p.Val137=)
2g.202513780A>GCA430838430BMPR2c.480A>G (p.Val160=)
c.411A>G (p.Val137=)
 dbSNP
2g.202513780A>TCA430838431BMPR2c.480A>T (p.Val160=)
c.411A>T (p.Val137=)
2g.202513781T>ACA350338182BMPR2c.481T>A (p.Leu161Ile)
c.412T>A (p.Leu138Ile)
2g.202513781T>CCA430838432BMPR2c.481T>C (p.Leu161=)
c.412T>C (p.Leu138=)
2g.202513781T>GCA350338188BMPR2c.481T>G (p.Leu161Val)
c.412T>G (p.Leu138Val)
2g.202513782T>ACA350338192BMPR2c.482T>A (p.Leu161Ter)
c.413T>A (p.Leu138Ter)
 ClinVar dbSNP
2g.202513782T>CCA350338194BMPR2c.482T>C (p.Leu161Ser)
c.413T>C (p.Leu138Ser)
 dbSNP gnomAD v4
2g.202513782T>GCA350338197BMPR2c.482T>G (p.Leu161Ter)
c.413T>G (p.Leu138Ter)
2g.202513782T=CA1321537327BMPR2c.482T= (p.Leu161=)
c.413T= (p.Leu138=)
2g.202513783A>CCA350338200BMPR2c.483A>C (p.Leu161Phe)
c.414A>C (p.Leu138Phe)
2g.202513783A>GCA430838433BMPR2c.483A>G (p.Leu161=)
c.414A>G (p.Leu138=)
2g.202513783A>TCA350338202BMPR2c.483A>T (p.Leu161Phe)
c.414A>T (p.Leu138Phe)
2g.202513784G>ACA64012047BMPR2c.484G>A (p.Ala162Thr)
c.415G>A (p.Ala139Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.202513784G>CCA350338210BMPR2c.484G>C (p.Ala162Pro)
c.415G>C (p.Ala139Pro)
2g.202513784G=CA1321537328BMPR2c.484G= (p.Ala162=)
c.415G= (p.Ala139=)
2g.202513784G>TCA350338205BMPR2c.484G>T (p.Ala162Ser)
c.415G>T (p.Ala139Ser)
2g.202513785C>ACA350338213BMPR2c.485C>A (p.Ala162Asp)
c.416C>A (p.Ala139Asp)
2g.202513785C>GCA350338216BMPR2c.485C>G (p.Ala162Gly)
c.416C>G (p.Ala139Gly)
2g.202513785C>TCA350338218BMPR2c.485C>T (p.Ala162Val)
c.416C>T (p.Ala139Val)
2g.202513786T>ACA430838434BMPR2c.486T>A (p.Ala162=)
c.417T>A (p.Ala139=)
2g.202513786T>CCA430838435BMPR2c.486T>C (p.Ala162=)
c.417T>C (p.Ala139=)
2g.202513786T>GCA430838436BMPR2c.486T>G (p.Ala162=)
c.417T>G (p.Ala139=)
2g.202513787G>ACA350338222BMPR2c.487G>A (p.Val163Ile)
c.418G>A (p.Val140Ile)
2g.202513787G>CCA350338225BMPR2c.487G>C (p.Val163Leu)
c.418G>C (p.Val140Leu)
2g.202513787G>TCA350338226BMPR2c.487G>T (p.Val163Phe)
c.418G>T (p.Val140Phe)
2g.202513788T>ACA350338229BMPR2c.488T>A (p.Val163Asp)
c.419T>A (p.Val140Asp)
2g.202513788T>CCA350338231BMPR2c.488T>C (p.Val163Ala)
c.419T>C (p.Val140Ala)
2g.202513788T>GCA350338233BMPR2c.488T>G (p.Val163Gly)
c.419T>G (p.Val140Gly)
2g.202513791delCA2586971003BMPR2c.491del (p.Leu164Ter)
c.422del (p.Leu141Ter)
2g.202513789T>ACA430838437BMPR2c.489T>A (p.Val163=)
c.420T>A (p.Val140=)
 gnomAD v4
2g.202513789T>CCA2061132BMPR2c.489T>C (p.Val163=)
c.420T>C (p.Val140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513789T>GCA430838438BMPR2c.489T>G (p.Val163=)
c.420T>G (p.Val140=)
2g.202513789T=CA1321537329BMPR2c.489T= (p.Val163=)
c.420T= (p.Val140=)
2g.202513790T>ACA350338238BMPR2c.490T>A (p.Leu164Met)
c.421T>A (p.Leu141Met)
2g.202513790T>CCA430838439BMPR2c.490T>C (p.Leu164=)
c.421T>C (p.Leu141=)
 ClinVar dbSNP
2g.202513790T>GCA350338240BMPR2c.490T>G (p.Leu164Val)
c.421T>G (p.Leu141Val)
2g.202513790T=CA1321537330BMPR2c.490T= (p.Leu164=)
c.421T= (p.Leu141=)
2g.202513791T>ACA350338242BMPR2c.491T>A (p.Leu164Ter)
c.422T>A (p.Leu141Ter)
2g.202513791T>CCA350338245BMPR2c.491T>C (p.Leu164Ser)
c.422T>C (p.Leu141Ser)
2g.202513791T>GCA350338248BMPR2c.491T>G (p.Leu164Trp)
c.422T>G (p.Leu141Trp)
2g.202513792G>ACA430838441BMPR2c.492G>A (p.Leu164=)
c.423G>A (p.Leu141=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202513792G>CCA350338251BMPR2c.492G>C (p.Leu164Phe)
c.423G>C (p.Leu141Phe)
 dbSNP gnomAD v2
2g.202513792G=CA1321537331BMPR2c.492G= (p.Leu164=)
c.423G= (p.Leu141=)
2g.202513792G>TCA350338252BMPR2c.492G>T (p.Leu164Phe)
c.423G>T (p.Leu141Phe)
 gnomAD v4
2g.202513793A>CCA350338255BMPR2c.493A>C (p.Ile165Leu)
c.424A>C (p.Ile142Leu)
2g.202513793A>GCA350338257BMPR2c.493A>G (p.Ile165Val)
c.424A>G (p.Ile142Val)
2g.202513793A>TCA350338260BMPR2c.493A>T (p.Ile165Leu)
c.424A>T (p.Ile142Leu)
2g.202513794T>ACA2061133BMPR2c.494T>A (p.Ile165Lys)
c.425T>A (p.Ile142Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513794T>CCA350338264BMPR2c.494T>C (p.Ile165Thr)
c.425T>C (p.Ile142Thr)
 gnomAD v4
2g.202513794T>GCA350338266BMPR2c.494T>G (p.Ile165Arg)
c.425T>G (p.Ile142Arg)
2g.202513794T=CA1321537332BMPR2c.494T= (p.Ile165=)
c.425T= (p.Ile142=)
2g.202513795A>CCA430838463BMPR2c.495A>C (p.Ile165=)
c.426A>C (p.Ile142=)
2g.202513795A>GCA350338268BMPR2c.495A>G (p.Ile165Met)
c.426A>G (p.Ile142Met)
2g.202513795A>TCA430838464BMPR2c.495A>T (p.Ile165=)
c.426A>T (p.Ile142=)
2g.202513796G>ACA350338270BMPR2c.496G>A (p.Val166Ile)
c.427G>A (p.Val143Ile)
 gnomAD v4
2g.202513796G>CCA350338272BMPR2c.496G>C (p.Val166Leu)
c.427G>C (p.Val143Leu)
2g.202513796G>TCA350338275BMPR2c.496G>T (p.Val166Phe)
c.427G>T (p.Val143Phe)
 COSMIC
2g.202513796_202513797delinsGTCA1321537333BMPR2c.496_497delinsGT (p.Val166=)
c.427_428delinsGT (p.Val143=)
2g.202513797T>ACA350338278BMPR2c.497T>A (p.Val166Asp)
c.428T>A (p.Val143Asp)
2g.202513797T>CCA350338281BMPR2c.497T>C (p.Val166Ala)
c.428T>C (p.Val143Ala)
 COSMIC
2g.202513797T>GCA350338282BMPR2c.497T>G (p.Val166Gly)
c.428T>G (p.Val143Gly)
2g.202513798delCA645293801BMPR2c.498del (p.Ala167ProfsTer9)
c.429del (p.Ala144ProfsTer9)
 ClinVar dbSNP
2g.202513798T>ACA430838466BMPR2c.498T>A (p.Val166=)
c.429T>A (p.Val143=)
2g.202513798T>CCA430838468BMPR2c.498T>C (p.Val166=)
c.429T>C (p.Val143=)
2g.202513798T>GCA430838467BMPR2c.498T>G (p.Val166=)
c.429T>G (p.Val143=)
2g.202513799G>ACA350338291BMPR2c.499G>A (p.Ala167Thr)
c.430G>A (p.Ala144Thr)
2g.202513799G>CCA350338288BMPR2c.499G>C (p.Ala167Pro)
c.430G>C (p.Ala144Pro)
 gnomAD v4
2g.202513799G=CA1321537334BMPR2c.499G= (p.Ala167=)
c.430G= (p.Ala144=)
2g.202513799G>TCA350338286BMPR2c.499G>T (p.Ala167Ser)
c.430G>T (p.Ala144Ser)
 dbSNP gnomAD v4
2g.202513800C>ACA350338295BMPR2c.500C>A (p.Ala167Asp)
c.431C>A (p.Ala144Asp)
2g.202513800C>GCA350338299BMPR2c.500C>G (p.Ala167Gly)
c.431C>G (p.Ala144Gly)
 gnomAD v4
2g.202513800C>TCA350338297BMPR2c.500C>T (p.Ala167Val)
c.431C>T (p.Ala144Val)
2g.202513801C>ACA430838472BMPR2c.501C>A (p.Ala167=)
c.432C>A (p.Ala144=)
2g.202513801C=CA1321537335BMPR2c.501C= (p.Ala167=)
c.432C= (p.Ala144=)
2g.202513801C>GCA430838473BMPR2c.501C>G (p.Ala167=)
c.432C>G (p.Ala144=)
2g.202513801C>TCA430838474BMPR2c.501C>T (p.Ala167=)
c.432C>T (p.Ala144=)
2g.202513802T>ACA350338301BMPR2c.502T>A (p.Leu168Ile)
c.433T>A (p.Leu145Ile)
2g.202513802T>CCA430838478BMPR2c.502T>C (p.Leu168=)
c.433T>C (p.Leu145=)
2g.202513802T>GCA350338302BMPR2c.502T>G (p.Leu168Val)
c.433T>G (p.Leu145Val)
 COSMIC
2g.202513803dupCA645293802BMPR2c.503dup (p.Leu168PhefsTer13)
c.434dup (p.Leu145PhefsTer13)
 ClinVar dbSNP
2g.202513803T>ACA350338306BMPR2c.503T>A (p.Leu168Ter)
c.434T>A (p.Leu145Ter)
2g.202513803T>CCA350338308BMPR2c.503T>C (p.Leu168Ser)
c.434T>C (p.Leu145Ser)
2g.202513803T>GCA350338310BMPR2c.503T>G (p.Leu168Ter)
c.434T>G (p.Leu145Ter)
2g.202513804A>CCA350338313BMPR2c.504A>C (p.Leu168Phe)
c.435A>C (p.Leu145Phe)
2g.202513804A>GCA430838480BMPR2c.504A>G (p.Leu168=)
c.435A>G (p.Leu145=)
2g.202513804A>TCA350338315BMPR2c.504A>T (p.Leu168Phe)
c.435A>T (p.Leu145Phe)
2g.202513805T>ACA350338317BMPR2c.505T>A (p.Cys169Ser)
c.436T>A (p.Cys146Ser)
2g.202513805T>CCA350338319BMPR2c.505T>C (p.Cys169Arg)
c.436T>C (p.Cys146Arg)
2g.202513805T>GCA350338322BMPR2c.505T>G (p.Cys169Gly)
c.436T>G (p.Cys146Gly)
2g.202513805dupCA658761130BMPR2c.505dup (p.Cys169LeufsTer12)
c.436dup (p.Cys146LeufsTer12)
2g.202513806G>ACA350338325BMPR2c.506G>A (p.Cys169Tyr)
c.437G>A (p.Cys146Tyr)
2g.202513806G>CCA350338330BMPR2c.506G>C (p.Cys169Ser)
c.437G>C (p.Cys146Ser)
2g.202513806G>TCA350338327BMPR2c.506G>T (p.Cys169Phe)
c.437G>T (p.Cys146Phe)
2g.202513806_202513810delinsGCTTTCA1321537336BMPR2c.506_510delinsGCTTT (p.Cys169=)
c.437_441delinsGCTTT (p.Cys146=)
2g.202513807C>ACA278083BMPR2c.507C>A (p.Cys169Ter)
c.438C>A (p.Cys146Ter)
 ClinVar dbSNP
2g.202513807C=CA1321537337BMPR2c.507C= (p.Cys169=)
c.438C= (p.Cys146=)
2g.202513807C>GCA350338333BMPR2c.507C>G (p.Cys169Trp)
c.438C>G (p.Cys146Trp)
2g.202513807C>TCA430838482BMPR2c.507C>T (p.Cys169=)
c.438C>T (p.Cys146=)
2g.202513807_202513810delinsAAACA645293803BMPR2c.507_510delinsAAA (p.Cys169Ter)
c.438_441delinsAAA (p.Cys146Ter)
 ClinVar dbSNP
2g.202513808T>ACA350338336BMPR2c.508T>A (p.Phe170Ile)
c.439T>A (p.Phe147Ile)
2g.202513808T>CCA350338338BMPR2c.508T>C (p.Phe170Leu)
c.439T>C (p.Phe147Leu)
2g.202513808T>GCA350338339BMPR2c.508T>G (p.Phe170Val)
c.439T>G (p.Phe147Val)
2g.202513809T>ACA350338344BMPR2c.509T>A (p.Phe170Tyr)
c.440T>A (p.Phe147Tyr)
2g.202513809T>CCA350338349BMPR2c.509T>C (p.Phe170Ser)
c.440T>C (p.Phe147Ser)
2g.202513809T>GCA350338347BMPR2c.509T>G (p.Phe170Cys)
c.440T>G (p.Phe147Cys)
2g.202513810T>ACA350338352BMPR2c.510T>A (p.Phe170Leu)
c.441T>A (p.Phe147Leu)
2g.202513810T>CCA430838484BMPR2c.510T>C (p.Phe170=)
c.441T>C (p.Phe147=)
2g.202513810T>GCA350338355BMPR2c.510T>G (p.Phe170Leu)
c.441T>G (p.Phe147Leu)
2g.202513811G>ACA350338359BMPR2c.511G>A (p.Gly171Arg)
c.442G>A (p.Gly148Arg)
2g.202513811G>CCA350338361BMPR2c.511G>C (p.Gly171Arg)
c.442G>C (p.Gly148Arg)
2g.202513811G>TCA350338364BMPR2c.511G>T (p.Gly171Ter)
c.442G>T (p.Gly148Ter)
2g.202513812G>ACA350338368BMPR2c.512G>A (p.Gly171Glu)
c.443G>A (p.Gly148Glu)
2g.202513812G>CCA350338370BMPR2c.512G>C (p.Gly171Ala)
c.443G>C (p.Gly148Ala)
2g.202513812G>TCA350338372BMPR2c.512G>T (p.Gly171Val)
c.443G>T (p.Gly148Val)
2g.202513813A=CA1321537338BMPR2c.513A= (p.Gly171=)
c.444A= (p.Gly148=)
2g.202513813A>CCA430838485BMPR2c.513A>C (p.Gly171=)
c.444A>C (p.Gly148=)
2g.202513813A>GCA430838486BMPR2c.513A>G (p.Gly171=)
c.444A>G (p.Gly148=)
2g.202513813A>TCA2061134BMPR2c.513A>T (p.Gly171=)
c.444A>T (p.Gly148=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513814T>ACA350338380BMPR2c.514T>A (p.Tyr172Asn)
c.445T>A (p.Tyr149Asn)
2g.202513814T>CCA350338382BMPR2c.514T>C (p.Tyr172His)
c.445T>C (p.Tyr149His)
2g.202513814T>GCA350338385BMPR2c.514T>G (p.Tyr172Asp)
c.445T>G (p.Tyr149Asp)
2g.202513815A=CA1321537339BMPR2c.515A= (p.Tyr172=)
c.446A= (p.Tyr149=)
2g.202513815A>CCA350338388BMPR2c.515A>C (p.Tyr172Ser)
c.446A>C (p.Tyr149Ser)
2g.202513815A>GCA64012059BMPR2c.515A>G (p.Tyr172Cys)
c.446A>G (p.Tyr149Cys)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.202513815A>TCA350338390BMPR2c.515A>T (p.Tyr172Phe)
c.446A>T (p.Tyr149Phe)
 dbSNP gnomAD v2 gnomAD v4
2g.202513816C>ACA350338396BMPR2c.516C>A (p.Tyr172Ter)
c.447C>A (p.Tyr149Ter)
2g.202513816C=CA1321537340BMPR2c.516C= (p.Tyr172=)
c.447C= (p.Tyr149=)
2g.202513816C>GCA350338399BMPR2c.516C>G (p.Tyr172Ter)
c.447C>G (p.Tyr149Ter)
 ClinVar dbSNP
2g.202513816C>TCA430838491BMPR2c.516C>T (p.Tyr172=)
c.447C>T (p.Tyr149=)

Number of alleles fetched