Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202518800G>ACA2753905647BMPR2c.622-22G>A (n.622-22G>A)
c.553-22G>A (n.553-22G>A)
2g.202518800G=CA1321539632BMPR2c.622-22G= (n.622-22G=)
c.553-22G= (n.553-22G=)
2g.202518800G>TCA538972198BMPR2c.622-22G>T (n.622-22G>T)
c.553-22G>T (n.553-22G>T)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518801C>ACA2662705622BMPR2c.622-21C>A (n.622-21C>A)
c.553-21C>A (n.553-21C>A)
 gnomAD v4
2g.202518801C>TCA2662705623BMPR2c.622-21C>T (n.622-21C>T)
c.553-21C>T (n.553-21C>T)
 gnomAD v4
2g.202518801_202518802delinsCTCA1321539633BMPR2c.622-21_622-20delinsCT (n.622-21_622-20delinsCT)
c.553-21_553-20delinsCT (n.553-21_553-20delinsCT)
2g.202518804delCA763426129BMPR2c.622-18del (n.622-18del)
c.553-18del (n.553-18del)
 dbSNP gnomAD v3 gnomAD v4
2g.202518803T>GCA763426132BMPR2c.622-19T>G (n.622-19T>G)
c.553-19T>G (n.553-19T>G)
 dbSNP
2g.202518803T=CA1321539634BMPR2c.622-19T= (n.622-19T=)
c.553-19T= (n.553-19T=)
2g.202518804T>CCA1321539636BMPR2c.622-18T>C (n.622-18T>C)
c.553-18T>C (n.553-18T>C)
 dbSNP
2g.202518804T=CA1321539635BMPR2c.622-18T= (n.622-18T=)
c.553-18T= (n.553-18T=)
2g.202518805C=CA1321539637BMPR2c.622-17C= (n.622-17C=)
c.553-17C= (n.553-17C=)
2g.202518805C>TCA2061175BMPR2c.622-17C>T (n.622-17C>T)
c.553-17C>T (n.553-17C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518808T>CCA2662705624BMPR2c.622-14T>C (n.622-14T>C)
c.553-14T>C (n.553-14T>C)
 gnomAD v4
2g.202518809A=CA1321539638BMPR2c.622-13A= (n.622-13A=)
c.553-13A= (n.553-13A=)
2g.202518809A>GCA2662705625BMPR2c.622-13A>G (n.622-13A>G)
c.553-13A>G (n.553-13A>G)
 gnomAD v4
2g.202518809A>TCA64015562BMPR2c.622-13A>T (n.622-13A>T)
c.553-13A>T (n.553-13A>T)
 dbSNP
2g.202518811A=CA1321539639BMPR2c.622-11A= (n.622-11A=)
c.553-11A= (n.553-11A=)
2g.202518811A>CCA2061176BMPR2c.622-11A>C (n.622-11A>C)
c.553-11A>C (n.553-11A>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518815C>ACA2662705626BMPR2c.622-7C>A (n.622-7C>A)
c.553-7C>A (n.553-7C>A)
 dbSNP gnomAD v4
2g.202518815C>TCA2662705627BMPR2c.622-7C>T (n.622-7C>T)
c.553-7C>T (n.553-7C>T)
 gnomAD v4
2g.202518816T>GCA2662705628BMPR2c.622-6T>G (n.622-6T>G)
c.553-6T>G (n.553-6T>G)
 gnomAD v4
2g.202518817T>GCA2662705629BMPR2c.622-5T>G (n.622-5T>G)
c.553-5T>G (n.553-5T>G)
 gnomAD v4
2g.202518818G>ACA1321539641BMPR2c.622-4G>A (n.622-4G>A)
c.553-4G>A (n.553-4G>A)
 dbSNP
2g.202518818G=CA1321539640BMPR2c.622-4G= (n.622-4G=)
c.553-4G= (n.553-4G=)
2g.202518818G>TCA2061177BMPR2c.622-4G>T (n.622-4G>T)
c.553-4G>T (n.553-4G>T)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518819C=CA1321539642BMPR2c.622-3C= (n.622-3C=)
c.553-3C= (n.553-3C=)
2g.202518819C>GCA2061178BMPR2c.622-3C>G (n.622-3C>G)
c.553-3C>G (n.553-3C>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518819C>TCA2662705630BMPR2c.622-3C>T (n.622-3C>T)
c.553-3C>T (n.553-3C>T)
 gnomAD v4
2g.202518820A>CCA350340048BMPR2c.622-2A>C (n.622-2A>C)
c.553-2A>C (n.553-2A>C)
2g.202518820A>GCA350340049BMPR2c.622-2A>G (n.622-2A>G)
c.553-2A>G (n.553-2A>G)
2g.202518820A>TCA350340050BMPR2c.622-2A>T (n.622-2A>T)
c.553-2A>T (n.553-2A>T)
2g.202518821G>ACA350340051BMPR2c.622-1G>A (n.622-1G>A)
c.553-1G>A (n.553-1G>A)
2g.202518821G>CCA350340053BMPR2c.622-1G>C (n.622-1G>C)
c.553-1G>C (n.553-1G>C)
2g.202518821G=CA1321539643BMPR2c.622-1G= (n.622-1G=)
c.553-1G= (n.553-1G=)
2g.202518821G>TCA350340052BMPR2c.622-1G>T (n.622-1G>T)
c.553-1G>T (n.553-1G>T)
 ClinVar dbSNP
2g.202518822C>ACA350340054BMPR2c.622C>A (p.Leu208Met)
c.553C>A (p.Leu185Met)
 dbSNP gnomAD v2 gnomAD v4
2g.202518822C=CA1321539644BMPR2c.622C= (p.Leu208=)
c.553C= (p.Leu185=)
2g.202518822C>GCA350340055BMPR2c.622C>G (p.Leu208Val)
c.553C>G (p.Leu185Val)
2g.202518822C>TCA430838865BMPR2c.622C>T (p.Leu208=)
c.553C>T (p.Leu185=)
2g.202518823T>ACA350340056BMPR2c.623T>A (p.Leu208Gln)
c.554T>A (p.Leu185Gln)
2g.202518823T>CCA350340057BMPR2c.623T>C (p.Leu208Pro)
c.554T>C (p.Leu185Pro)
2g.202518823T>GCA350340058BMPR2c.623T>G (p.Leu208Arg)
c.554T>G (p.Leu185Arg)
2g.202518824G>ACA430838876BMPR2c.624G>A (p.Leu208=)
c.555G>A (p.Leu185=)
 gnomAD v4
2g.202518824G>CCA430838874BMPR2c.624G>C (p.Leu208=)
c.555G>C (p.Leu185=)
 dbSNP
2g.202518824G>TCA430838872BMPR2c.624G>T (p.Leu208=)
c.555G>T (p.Leu185=)
2g.202518825A>CCA350340059BMPR2c.625A>C (p.Ile209Leu)
c.556A>C (p.Ile186Leu)
2g.202518825A>GCA350340060BMPR2c.625A>G (p.Ile209Val)
c.556A>G (p.Ile186Val)
2g.202518825A>TCA350340061BMPR2c.625A>T (p.Ile209Phe)
c.556A>T (p.Ile186Phe)
2g.202518826T>ACA350340062BMPR2c.626T>A (p.Ile209Asn)
c.557T>A (p.Ile186Asn)
2g.202518826T>CCA350340063BMPR2c.626T>C (p.Ile209Thr)
c.557T>C (p.Ile186Thr)
 gnomAD v4
2g.202518826T>GCA350340064BMPR2c.626T>G (p.Ile209Ser)
c.557T>G (p.Ile186Ser)
2g.202518827T>ACA430838883BMPR2c.627T>A (p.Ile209=)
c.558T>A (p.Ile186=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518827T>CCA430838884BMPR2c.627T>C (p.Ile209=)
c.558T>C (p.Ile186=)
2g.202518827T>GCA350340065BMPR2c.627T>G (p.Ile209Met)
c.558T>G (p.Ile186Met)
2g.202518827T=CA1321539645BMPR2c.627T= (p.Ile209=)
c.558T= (p.Ile186=)
2g.202518828G>ACA350340068BMPR2c.628G>A (p.Gly210Ser)
c.559G>A (p.Gly187Ser)
2g.202518828G>CCA350340066BMPR2c.628G>C (p.Gly210Arg)
c.559G>C (p.Gly187Arg)
2g.202518828G>TCA350340067BMPR2c.628G>T (p.Gly210Cys)
c.559G>T (p.Gly187Cys)
2g.202518829G>ACA350340069BMPR2c.629G>A (p.Gly210Asp)
c.560G>A (p.Gly187Asp)
 dbSNP
2g.202518829G>CCA350340070BMPR2c.629G>C (p.Gly210Ala)
c.560G>C (p.Gly187Ala)
2g.202518829G>TCA350340071BMPR2c.629G>T (p.Gly210Val)
c.560G>T (p.Gly187Val)
2g.202518830C>ACA430838895BMPR2c.630C>A (p.Gly210=)
c.561C>A (p.Gly187=)
2g.202518830C>GCA430838898BMPR2c.630C>G (p.Gly210=)
c.561C>G (p.Gly187=)
2g.202518830C>TCA430838900BMPR2c.630C>T (p.Gly210=)
c.561C>T (p.Gly187=)
 dbSNP gnomAD v4
2g.202518831C>ACA430838903BMPR2c.631C>A (p.Arg211=)
c.562C>A (p.Arg188=)
2g.202518831C=CA1321539646BMPR2c.631C= (p.Arg211=)
c.562C= (p.Arg188=)
2g.202518831C>GCA350340072BMPR2c.631C>G (p.Arg211Gly)
c.562C>G (p.Arg188Gly)
2g.202518831C>TCA119933BMPR2c.631C>T (p.Arg211Ter)
c.562C>T (p.Arg188Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.202518832G>ACA2061179BMPR2c.632G>A (p.Arg211Gln)
c.563G>A (p.Arg188Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.202518832G>CCA350340073BMPR2c.632G>C (p.Arg211Pro)
c.563G>C (p.Arg188Pro)
 COSMIC
2g.202518832G=CA1321539647BMPR2c.632G= (p.Arg211=)
c.563G= (p.Arg188=)
2g.202518832G>TCA350340074BMPR2c.632G>T (p.Arg211Leu)
c.563G>T (p.Arg188Leu)
2g.202518833A>CCA430838906BMPR2c.633A>C (p.Arg211=)
c.564A>C (p.Arg188=)
2g.202518833A>GCA430838907BMPR2c.633A>G (p.Arg211=)
c.564A>G (p.Arg188=)
2g.202518833A>TCA430838908BMPR2c.633A>T (p.Arg211=)
c.564A>T (p.Arg188=)
2g.202518834G>ACA350340075BMPR2c.634G>A (p.Gly212Ser)
c.565G>A (p.Gly189Ser)
2g.202518834G>CCA350340076BMPR2c.634G>C (p.Gly212Arg)
c.565G>C (p.Gly189Arg)
2g.202518834G>TCA350340077BMPR2c.634G>T (p.Gly212Cys)
c.565G>T (p.Gly189Cys)
 dbSNP
2g.202518835G>ACA350340079BMPR2c.635G>A (p.Gly212Asp)
c.566G>A (p.Gly189Asp)
2g.202518835G>CCA350340080BMPR2c.635G>C (p.Gly212Ala)
c.566G>C (p.Gly189Ala)
2g.202518835G>TCA350340078BMPR2c.635G>T (p.Gly212Val)
c.566G>T (p.Gly189Val)
2g.202518836T>ACA430838909BMPR2c.636T>A (p.Gly212=)
c.567T>A (p.Gly189=)
2g.202518836T>CCA430838910BMPR2c.636T>C (p.Gly212=)
c.567T>C (p.Gly189=)
2g.202518836T>GCA430838911BMPR2c.636T>G (p.Gly212=)
c.567T>G (p.Gly189=)
2g.202518837C>ACA430838912BMPR2c.637C>A (p.Arg213=)
c.568C>A (p.Arg190=)
 gnomAD v4
2g.202518837C=CA1321539648BMPR2c.637C= (p.Arg213=)
c.568C= (p.Arg190=)
2g.202518837C>GCA350340081BMPR2c.637C>G (p.Arg213Gly)
c.568C>G (p.Arg190Gly)
 gnomAD v4
2g.202518837C>TCA10602824BMPR2c.637C>T (p.Arg213Ter)
c.568C>T (p.Arg190Ter)
 ClinVar dbSNP COSMIC
2g.202518838G>ACA2061180BMPR2c.638G>A (p.Arg213Gln)
c.569G>A (p.Arg190Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518838G>CCA350340082BMPR2c.638G>C (p.Arg213Pro)
c.569G>C (p.Arg190Pro)
2g.202518838G=CA1321539649BMPR2c.638G= (p.Arg213=)
c.569G= (p.Arg190=)
2g.202518838G>TCA350340083BMPR2c.638G>T (p.Arg213Leu)
c.569G>T (p.Arg190Leu)
 dbSNP gnomAD v3 gnomAD v4
2g.202518839A>CCA430838913BMPR2c.639A>C (p.Arg213=)
c.570A>C (p.Arg190=)
 gnomAD v4
2g.202518839A>GCA430838914BMPR2c.639A>G (p.Arg213=)
c.570A>G (p.Arg190=)
2g.202518839A>TCA430838915BMPR2c.639A>T (p.Arg213=)
c.570A>T (p.Arg190=)
2g.202518840T>ACA350340084BMPR2c.640T>A (p.Tyr214Asn)
c.571T>A (p.Tyr191Asn)
2g.202518840T>CCA350340085BMPR2c.640T>C (p.Tyr214His)
c.571T>C (p.Tyr191His)
2g.202518840T>GCA350340086BMPR2c.640T>G (p.Tyr214Asp)
c.571T>G (p.Tyr191Asp)
2g.202518841A=CA1321539650BMPR2c.641A= (p.Tyr214=)
c.572A= (p.Tyr191=)
2g.202518841A>CCA350340087BMPR2c.641A>C (p.Tyr214Ser)
c.572A>C (p.Tyr191Ser)
2g.202518841A>GCA350340088BMPR2c.641A>G (p.Tyr214Cys)
c.572A>G (p.Tyr191Cys)
 dbSNP gnomAD v3 gnomAD v4
2g.202518841A>TCA2061181BMPR2c.641A>T (p.Tyr214Phe)
c.572A>T (p.Tyr191Phe)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518842T>ACA350340089BMPR2c.642T>A (p.Tyr214Ter)
c.573T>A (p.Tyr191Ter)
 COSMIC
2g.202518842T>CCA430838916BMPR2c.642T>C (p.Tyr214=)
c.573T>C (p.Tyr191=)
 dbSNP gnomAD v4
2g.202518842T>GCA350340090BMPR2c.642T>G (p.Tyr214Ter)
c.573T>G (p.Tyr191Ter)
 ClinVar dbSNP
2g.202518842T=CA1321539651BMPR2c.642T= (p.Tyr214=)
c.573T= (p.Tyr191=)
2g.202518843G>ACA350340093BMPR2c.643G>A (p.Gly215Arg)
c.574G>A (p.Gly192Arg)
2g.202518843G>CCA350340092BMPR2c.643G>C (p.Gly215Arg)
c.574G>C (p.Gly192Arg)
2g.202518843G>TCA350340091BMPR2c.643G>T (p.Gly215Ter)
c.574G>T (p.Gly192Ter)
2g.202518844G>ACA2061182BMPR2c.644G>A (p.Gly215Glu)
c.575G>A (p.Gly192Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518844G>CCA350340094BMPR2c.644G>C (p.Gly215Ala)
c.575G>C (p.Gly192Ala)
2g.202518844G=CA1321539652BMPR2c.644G= (p.Gly215=)
c.575G= (p.Gly192=)
2g.202518844G>TCA350340095BMPR2c.644G>T (p.Gly215Val)
c.575G>T (p.Gly192Val)
2g.202518845A>CCA430838919BMPR2c.645A>C (p.Gly215=)
c.576A>C (p.Gly192=)
2g.202518845A>GCA430838920BMPR2c.645A>G (p.Gly215=)
c.576A>G (p.Gly192=)
2g.202518845A>TCA430838918BMPR2c.645A>T (p.Gly215=)
c.576A>T (p.Gly192=)
2g.202518846G>ACA350340096BMPR2c.646G>A (p.Ala216Thr)
c.577G>A (p.Ala193Thr)
 dbSNP gnomAD v2 gnomAD v4
2g.202518846G>CCA350340097BMPR2c.646G>C (p.Ala216Pro)
c.577G>C (p.Ala193Pro)
2g.202518846G=CA1321539653BMPR2c.646G= (p.Ala216=)
c.577G= (p.Ala193=)
2g.202518846G>TCA350340098BMPR2c.646G>T (p.Ala216Ser)
c.577G>T (p.Ala193Ser)
2g.202518847C>ACA350340099BMPR2c.647C>A (p.Ala216Glu)
c.578C>A (p.Ala193Glu)
2g.202518847C=CA1321539654BMPR2c.647C= (p.Ala216=)
c.578C= (p.Ala193=)
2g.202518847C>GCA350340100BMPR2c.647C>G (p.Ala216Gly)
c.578C>G (p.Ala193Gly)
2g.202518847C>TCA350340101BMPR2c.647C>T (p.Ala216Val)
c.578C>T (p.Ala193Val)
 dbSNP
2g.202518848delCA2586971008BMPR2c.648del (p.Val217TyrfsTer13)
c.579del (p.Val194TyrfsTer13)
2g.202518848A>CCA430838924BMPR2c.648A>C (p.Ala216=)
c.579A>C (p.Ala193=)
2g.202518848A>GCA430838921BMPR2c.648A>G (p.Ala216=)
c.579A>G (p.Ala193=)
 gnomAD v4
2g.202518848A>TCA430838922BMPR2c.648A>T (p.Ala216=)
c.579A>T (p.Ala193=)
2g.202518849G>ACA350340102BMPR2c.649G>A (p.Val217Ile)
c.580G>A (p.Val194Ile)
2g.202518849G>CCA350340103BMPR2c.649G>C (p.Val217Leu)
c.580G>C (p.Val194Leu)
2g.202518849G>TCA350340104BMPR2c.649G>T (p.Val217Leu)
c.580G>T (p.Val194Leu)
2g.202518850T>ACA350340107BMPR2c.650T>A (p.Val217Glu)
c.581T>A (p.Val194Glu)
2g.202518850T>CCA350340106BMPR2c.650T>C (p.Val217Ala)
c.581T>C (p.Val194Ala)
2g.202518850T>GCA350340105BMPR2c.650T>G (p.Val217Gly)
c.581T>G (p.Val194Gly)
2g.202518851A>CCA430838925BMPR2c.651A>C (p.Val217=)
c.582A>C (p.Val194=)
2g.202518851A>GCA430838927BMPR2c.651A>G (p.Val217=)
c.582A>G (p.Val194=)
 gnomAD v4
2g.202518851A>TCA430838926BMPR2c.651A>T (p.Val217=)
c.582A>T (p.Val194=)
2g.202518852T>ACA350340108BMPR2c.652T>A (p.Tyr218Asn)
c.583T>A (p.Tyr195Asn)
2g.202518852T>CCA350340109BMPR2c.652T>C (p.Tyr218His)
c.583T>C (p.Tyr195His)
2g.202518852T>GCA350340110BMPR2c.652T>G (p.Tyr218Asp)
c.583T>G (p.Tyr195Asp)
2g.202518853A=CA1321539655BMPR2c.653A= (p.Tyr218=)
c.584A= (p.Tyr195=)
2g.202518853A>CCA2061183BMPR2c.653A>C (p.Tyr218Ser)
c.584A>C (p.Tyr195Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518853A>GCA350340111BMPR2c.653A>G (p.Tyr218Cys)
c.584A>G (p.Tyr195Cys)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518853A>TCA350340112BMPR2c.653A>T (p.Tyr218Phe)
c.584A>T (p.Tyr195Phe)
2g.202518853_202518854delinsATCA1321539656BMPR2c.653_654delinsAT (p.Tyr218=)
c.584_585delinsAT (p.Tyr195=)
2g.202518854delCA763426202BMPR2c.654del (p.Tyr218Ter)
c.585del (p.Tyr195Ter)
 dbSNP gnomAD v3 gnomAD v4
2g.202518854T>ACA350340113BMPR2c.654T>A (p.Tyr218Ter)
c.585T>A (p.Tyr195Ter)
2g.202518854T>CCA430838929BMPR2c.654T>C (p.Tyr218=)
c.585T>C (p.Tyr195=)
2g.202518854T>GCA350340114BMPR2c.654T>G (p.Tyr218Ter)
c.585T>G (p.Tyr195Ter)
2g.202518854_202518855delinsTACA1321539657BMPR2c.654_655delinsTA (p.Tyr218=)
c.585_586delinsTA (p.Tyr195=)
2g.202518855A=CA1321539658BMPR2c.655A= (p.Lys219=)
c.586A= (p.Lys196=)
2g.202518855A>CCA350340115BMPR2c.655A>C (p.Lys219Gln)
c.586A>C (p.Lys196Gln)
2g.202518855A>GCA350340116BMPR2c.655A>G (p.Lys219Glu)
c.586A>G (p.Lys196Glu)
 dbSNP gnomAD v3 gnomAD v4
2g.202518855A>TCA350340117BMPR2c.655A>T (p.Lys219Ter)
c.586A>T (p.Lys196Ter)
2g.202518857delCA915941642BMPR2c.657del (p.Gly220AlafsTer10)
c.588del (p.Gly197AlafsTer10)
 ClinVar dbSNP
2g.202518856A>CCA350340118BMPR2c.656A>C (p.Lys219Thr)
c.587A>C (p.Lys196Thr)
2g.202518856A>GCA350340119BMPR2c.656A>G (p.Lys219Arg)
c.587A>G (p.Lys196Arg)
2g.202518856A>TCA350340120BMPR2c.656A>T (p.Lys219Ile)
c.587A>T (p.Lys196Ile)
2g.202518857A=CA1321539659BMPR2c.657A= (p.Lys219=)
c.588A= (p.Lys196=)
2g.202518857A>CCA350340121BMPR2c.657A>C (p.Lys219Asn)
c.588A>C (p.Lys196Asn)
2g.202518857A>GCA430838930BMPR2c.657A>G (p.Lys219=)
c.588A>G (p.Lys196=)
2g.202518857A>TCA350340122BMPR2c.657A>T (p.Lys219Asn)
c.588A>T (p.Lys196Asn)
2g.202518858G>ACA350340123BMPR2c.658G>A (p.Gly220Ser)
c.589G>A (p.Gly197Ser)
 dbSNP gnomAD v4
2g.202518858G>CCA350340124BMPR2c.658G>C (p.Gly220Arg)
c.589G>C (p.Gly197Arg)
2g.202518858G=CA1321539660BMPR2c.658G= (p.Gly220=)
c.589G= (p.Gly197=)
2g.202518858G>TCA350340125BMPR2c.658G>T (p.Gly220Cys)
c.589G>T (p.Gly197Cys)
2g.202518859dupCA645293808BMPR2c.659dup (p.Ser221LeufsTer4)
c.590dup (p.Ser198LeufsTer4)
 ClinVar dbSNP
2g.202518859G>ACA350340126BMPR2c.659G>A (p.Gly220Asp)
c.590G>A (p.Gly197Asp)
2g.202518859G>CCA350340127BMPR2c.659G>C (p.Gly220Ala)
c.590G>C (p.Gly197Ala)
 dbSNP
2g.202518859G>TCA350340128BMPR2c.659G>T (p.Gly220Val)
c.590G>T (p.Gly197Val)
2g.202518860C>ACA2061184BMPR2c.660C>A (p.Gly220=)
c.591C>A (p.Gly197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518860C=CA1321539661BMPR2c.660C= (p.Gly220=)
c.591C= (p.Gly197=)
2g.202518860C>GCA430838931BMPR2c.660C>G (p.Gly220=)
c.591C>G (p.Gly197=)
2g.202518860C>TCA430838932BMPR2c.660C>T (p.Gly220=)
c.591C>T (p.Gly197=)
 dbSNP
2g.202518861T>ACA350340132BMPR2c.661T>A (p.Ser221Thr)
c.592T>A (p.Ser198Thr)
2g.202518861T>CCA350340133BMPR2c.661T>C (p.Ser221Pro)
c.592T>C (p.Ser198Pro)
2g.202518861T>GCA350340135BMPR2c.661T>G (p.Ser221Ala)
c.592T>G (p.Ser198Ala)
2g.202518862C>ACA350340138BMPR2c.662C>A (p.Ser221Tyr)
c.593C>A (p.Ser198Tyr)
2g.202518862C>GCA350340139BMPR2c.662C>G (p.Ser221Cys)
c.593C>G (p.Ser198Cys)
2g.202518862C>TCA350340141BMPR2c.662C>T (p.Ser221Phe)
c.593C>T (p.Ser198Phe)
 gnomAD v4
2g.202518863C>ACA430838936BMPR2c.663C>A (p.Ser221=)
c.594C>A (p.Ser198=)
2g.202518863C>GCA430838939BMPR2c.663C>G (p.Ser221=)
c.594C>G (p.Ser198=)
2g.202518863C>TCA430838940BMPR2c.663C>T (p.Ser221=)
c.594C>T (p.Ser198=)
 ClinVar dbSNP COSMIC
2g.202518863_202518865delinsCTTCA1321539662BMPR2c.663_665delinsCTT (p.Ser221=)
c.594_596delinsCTT (p.Ser198=)
2g.202518864T>ACA350340145BMPR2c.664T>A (p.Leu222Met)
c.595T>A (p.Leu199Met)
2g.202518864T>CCA430838941BMPR2c.664T>C (p.Leu222=)
c.595T>C (p.Leu199=)
2g.202518864T>GCA350340143BMPR2c.664T>G (p.Leu222Val)
c.595T>G (p.Leu199Val)
2g.202518864_202518865delinsAAGGCA645293809BMPR2c.664_665delinsAAGG (p.Leu222LysfsTer9)
c.595_596delinsAAGG (p.Leu199LysfsTer9)
 ClinVar dbSNP
2g.202518865T>ACA350340148BMPR2c.665T>A (p.Leu222Ter)
c.596T>A (p.Leu199Ter)
2g.202518865T>CCA350340150BMPR2c.665T>C (p.Leu222Ser)
c.596T>C (p.Leu199Ser)
 gnomAD v4
2g.202518865T>GCA350340149BMPR2c.665T>G (p.Leu222Trp)
c.596T>G (p.Leu199Trp)
 COSMIC
2g.202518866G>ACA430838944BMPR2c.666G>A (p.Leu222=)
c.597G>A (p.Leu199=)
2g.202518866G>CCA350340153BMPR2c.666G>C (p.Leu222Phe)
c.597G>C (p.Leu199Phe)
 dbSNP
2g.202518866G=CA1321539663BMPR2c.666G= (p.Leu222=)
c.597G= (p.Leu199=)
2g.202518866G>TCA350340155BMPR2c.666G>T (p.Leu222Phe)
c.597G>T (p.Leu199Phe)
 dbSNP gnomAD v4
2g.202518867G>ACA350340157BMPR2c.667G>A (p.Asp223Asn)
c.598G>A (p.Asp200Asn)
 dbSNP
2g.202518867G>CCA2061185BMPR2c.667G>C (p.Asp223His)
c.598G>C (p.Asp200His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518867G=CA1321539664BMPR2c.667G= (p.Asp223=)
c.598G= (p.Asp200=)
2g.202518867G>TCA350340159BMPR2c.667G>T (p.Asp223Tyr)
c.598G>T (p.Asp200Tyr)
2g.202518868A=CA1321539665BMPR2c.668A= (p.Asp223=)
c.599A= (p.Asp200=)
2g.202518868A>CCA350340164BMPR2c.668A>C (p.Asp223Ala)
c.599A>C (p.Asp200Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.202518868A>GCA350340163BMPR2c.668A>G (p.Asp223Gly)
c.599A>G (p.Asp200Gly)
 ClinVar dbSNP
2g.202518868A>TCA350340161BMPR2c.668A>T (p.Asp223Val)
c.599A>T (p.Asp200Val)
2g.202518869T>ACA350340167BMPR2c.669T>A (p.Asp223Glu)
c.600T>A (p.Asp200Glu)
2g.202518869T>CCA2061186BMPR2c.669T>C (p.Asp223=)
c.600T>C (p.Asp200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518869T>GCA350340169BMPR2c.669T>G (p.Asp223Glu)
c.600T>G (p.Asp200Glu)
2g.202518869T=CA1321539666BMPR2c.669T= (p.Asp223=)
c.600T= (p.Asp200=)
2g.202518870G>ACA350340172BMPR2c.670G>A (p.Glu224Lys)
c.601G>A (p.Glu201Lys)
2g.202518870G>CCA350340173BMPR2c.670G>C (p.Glu224Gln)
c.601G>C (p.Glu201Gln)
 gnomAD v4
2g.202518870G>TCA350340174BMPR2c.670G>T (p.Glu224Ter)
c.601G>T (p.Glu201Ter)
2g.202518870_202518877delinsGAGCGTCCCA1321539667BMPR2c.670_677delinsGAGCGTCC (p.Glu224=)
c.601_608delinsGAGCGTCC (p.Glu201=)
2g.202518871A>CCA350340177BMPR2c.671A>C (p.Glu224Ala)
c.602A>C (p.Glu201Ala)
2g.202518871A>GCA350340180BMPR2c.671A>G (p.Glu224Gly)
c.602A>G (p.Glu201Gly)
2g.202518871A>TCA350340179BMPR2c.671A>T (p.Glu224Val)
c.602A>T (p.Glu201Val)
2g.202518873_202518879delCA645293810BMPR2c.673_679del (p.Arg225LeufsTer3)
c.604_610del (p.Arg202LeufsTer3)
 ClinVar dbSNP
2g.202518872G>ACA430838949BMPR2c.672G>A (p.Glu224=)
c.603G>A (p.Glu201=)
 ClinVar
2g.202518872G>CCA2061187BMPR2c.672G>C (p.Glu224Asp)
c.603G>C (p.Glu201Asp)
 dbSNP ExAC gnomAD v2
2g.202518872G=CA1321539668BMPR2c.672G= (p.Glu224=)
c.603G= (p.Glu201=)
2g.202518872G>TCA350340184BMPR2c.672G>T (p.Glu224Asp)
c.603G>T (p.Glu201Asp)
2g.202518873C>ACA350340186BMPR2c.673C>A (p.Arg225Ser)
c.604C>A (p.Arg202Ser)
2g.202518873C=CA1321539669BMPR2c.673C= (p.Arg225=)
c.604C= (p.Arg202=)
2g.202518873C>GCA350340188BMPR2c.673C>G (p.Arg225Gly)
c.604C>G (p.Arg202Gly)
2g.202518873C>TCA350340190BMPR2c.673C>T (p.Arg225Cys)
c.604C>T (p.Arg202Cys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202518874G>ACA2061188BMPR2c.674G>A (p.Arg225His)
c.605G>A (p.Arg202His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518874G>CCA350340193BMPR2c.674G>C (p.Arg225Pro)
c.605G>C (p.Arg202Pro)
2g.202518874G=CA1321539670BMPR2c.674G= (p.Arg225=)
c.605G= (p.Arg202=)
2g.202518874G>TCA350340194BMPR2c.674G>T (p.Arg225Leu)
c.605G>T (p.Arg202Leu)
2g.202518875T>ACA430838952BMPR2c.675T>A (p.Arg225=)
c.606T>A (p.Arg202=)
 dbSNP gnomAD v3 gnomAD v4
2g.202518875T>CCA430838953BMPR2c.675T>C (p.Arg225=)
c.606T>C (p.Arg202=)
2g.202518875T>GCA430838954BMPR2c.675T>G (p.Arg225=)
c.606T>G (p.Arg202=)
2g.202518875T=CA1321539671BMPR2c.675T= (p.Arg225=)
c.606T= (p.Arg202=)
2g.202518876C>ACA350340197BMPR2c.676C>A (p.Pro226Thr)
c.607C>A (p.Pro203Thr)
2g.202518876C=CA1321539672BMPR2c.676C= (p.Pro226=)
c.607C= (p.Pro203=)
2g.202518876C>GCA350340199BMPR2c.676C>G (p.Pro226Ala)
c.607C>G (p.Pro203Ala)
2g.202518876C>TCA350340200BMPR2c.676C>T (p.Pro226Ser)
c.607C>T (p.Pro203Ser)
 dbSNP
2g.202518877C>ACA350340203BMPR2c.677C>A (p.Pro226Gln)
c.608C>A (p.Pro203Gln)
2g.202518877C>GCA350340206BMPR2c.677C>G (p.Pro226Arg)
c.608C>G (p.Pro203Arg)
2g.202518877C>TCA350340204BMPR2c.677C>T (p.Pro226Leu)
c.608C>T (p.Pro203Leu)
 gnomAD v4
2g.202518878A>CCA430838959BMPR2c.678A>C (p.Pro226=)
c.609A>C (p.Pro203=)
2g.202518878A>GCA430838957BMPR2c.678A>G (p.Pro226=)
c.609A>G (p.Pro203=)
2g.202518878A>TCA430838958BMPR2c.678A>T (p.Pro226=)
c.609A>T (p.Pro203=)
2g.202518879G>ACA350340208BMPR2c.679G>A (p.Val227Ile)
c.610G>A (p.Val204Ile)
 dbSNP gnomAD v2 gnomAD v4
2g.202518879G>CCA350340210BMPR2c.679G>C (p.Val227Leu)
c.610G>C (p.Val204Leu)
2g.202518879G=CA1321539673BMPR2c.679G= (p.Val227=)
c.610G= (p.Val204=)
2g.202518879G>TCA350340212BMPR2c.679G>T (p.Val227Phe)
c.610G>T (p.Val204Phe)
2g.202518880T>ACA350340215BMPR2c.680T>A (p.Val227Asp)
c.611T>A (p.Val204Asp)
2g.202518880T>CCA2061189BMPR2c.680T>C (p.Val227Ala)
c.611T>C (p.Val204Ala)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518880T>GCA350340217BMPR2c.680T>G (p.Val227Gly)
c.611T>G (p.Val204Gly)
2g.202518880T=CA1321539674BMPR2c.680T= (p.Val227=)
c.611T= (p.Val204=)
2g.202518881T>ACA430838961BMPR2c.681T>A (p.Val227=)
c.612T>A (p.Val204=)
2g.202518881T>CCA430838962BMPR2c.681T>C (p.Val227=)
c.612T>C (p.Val204=)
2g.202518881T>GCA430838964BMPR2c.681T>G (p.Val227=)
c.612T>G (p.Val204=)
2g.202518882G>ACA350340220BMPR2c.682G>A (p.Ala228Thr)
c.613G>A (p.Ala205Thr)
 dbSNP
2g.202518882G>CCA350340221BMPR2c.682G>C (p.Ala228Pro)
c.613G>C (p.Ala205Pro)
2g.202518882G>TCA350340223BMPR2c.682G>T (p.Ala228Ser)
c.613G>T (p.Ala205Ser)
2g.202518882_202518883delinsGCCA1321539675BMPR2c.682_683delinsGC (p.Ala228=)
c.613_614delinsGC (p.Ala205=)
2g.202518883delCA915941643BMPR2c.683del (p.Ala228ValfsTer2)
c.614del (p.Ala205ValfsTer2)
 ClinVar dbSNP
2g.202518883C>ACA350340226BMPR2c.683C>A (p.Ala228Asp)
c.614C>A (p.Ala205Asp)
2g.202518883C>GCA350340227BMPR2c.683C>G (p.Ala228Gly)
c.614C>G (p.Ala205Gly)
2g.202518883C>TCA350340228BMPR2c.683C>T (p.Ala228Val)
c.614C>T (p.Ala205Val)
2g.202518884T>ACA430838968BMPR2c.684T>A (p.Ala228=)
c.615T>A (p.Ala205=)
2g.202518884T>CCA430838969BMPR2c.684T>C (p.Ala228=)
c.615T>C (p.Ala205=)
2g.202518884T>GCA430838970BMPR2c.684T>G (p.Ala228=)
c.615T>G (p.Ala205=)
2g.202518884T=CA1321539676BMPR2c.684T= (p.Ala228=)
c.615T= (p.Ala205=)
2g.202518885G>ACA350340237BMPR2c.685G>A (p.Val229Ile)
c.616G>A (p.Val206Ile)
 dbSNP
2g.202518885G>CCA350340229BMPR2c.685G>C (p.Val229Leu)
c.616G>C (p.Val206Leu)
2g.202518885G=CA1321539677BMPR2c.685G= (p.Val229=)
c.616G= (p.Val206=)
2g.202518885G>TCA350340236BMPR2c.685G>T (p.Val229Leu)
c.616G>T (p.Val206Leu)
2g.202518885dupCA1041341592BMPR2c.685dup (p.Val229GlyfsTer27)
c.616dup (p.Val206GlyfsTer27)
 dbSNP gnomAD v3 gnomAD v4
2g.202518886T>ACA350340240BMPR2c.686T>A (p.Val229Glu)
c.617T>A (p.Val206Glu)
2g.202518886T>CCA350340242BMPR2c.686T>C (p.Val229Ala)
c.617T>C (p.Val206Ala)
2g.202518886T>GCA350340244BMPR2c.686T>G (p.Val229Gly)
c.617T>G (p.Val206Gly)
2g.202518886_202518888delinsTAACA1321539678BMPR2c.686_688delinsTAA (p.Val229=)
c.617_619delinsTAA (p.Val206=)
2g.202518886_202518893delinsTAAAAGTGCA1321539679BMPR2c.686_693delinsTAAAAGTG (p.Val229=)
c.617_624delinsTAAAAGTG (p.Val206=)
2g.202518887A>CCA430838975BMPR2c.687A>C (p.Val229=)
c.618A>C (p.Val206=)
2g.202518887A>GCA430838976BMPR2c.687A>G (p.Val229=)
c.618A>G (p.Val206=)
 COSMIC
2g.202518887A>TCA430838977BMPR2c.687A>T (p.Val229=)
c.618A>T (p.Val206=)
2g.202518890delCA430838978BMPR2c.690del (p.Val231CysfsTer21)
c.621del (p.Val208CysfsTer21)
 COSMIC
2g.202518889_202518890delCA645293811BMPR2c.689_690del (p.Lys230SerfsTer25)
c.620_621del (p.Lys207SerfsTer25)
 ClinVar dbSNP
2g.202518887_202518893delCA915941644BMPR2c.687_693del (p.Lys230PhefsTer20)
c.618_624del (p.Lys207PhefsTer20)
 ClinVar dbSNP
2g.202518888A>CCA350340246BMPR2c.688A>C (p.Lys230Gln)
c.619A>C (p.Lys207Gln)
2g.202518888A>GCA350340248BMPR2c.688A>G (p.Lys230Glu)
c.619A>G (p.Lys207Glu)
2g.202518888A>TCA350340250BMPR2c.688A>T (p.Lys230Ter)
c.619A>T (p.Lys207Ter)
2g.202518889A>CCA350340252BMPR2c.689A>C (p.Lys230Thr)
c.620A>C (p.Lys207Thr)
2g.202518889A>GCA350340253BMPR2c.689A>G (p.Lys230Arg)
c.620A>G (p.Lys207Arg)
2g.202518889A>TCA350340255BMPR2c.689A>T (p.Lys230Ile)
c.620A>T (p.Lys207Ile)
2g.202518889_202518891delinsAAGCA1321539680BMPR2c.689_691delinsAAG (p.Lys230=)
c.620_622delinsAAG (p.Lys207=)
2g.202518890A=CA1321539682BMPR2c.690A= (p.Lys230=)
c.621A= (p.Lys207=)
2g.202518890A>CCA350340258BMPR2c.690A>C (p.Lys230Asn)
c.621A>C (p.Lys207Asn)
2g.202518890A>GCA430838983BMPR2c.690A>G (p.Lys230=)
c.621A>G (p.Lys207=)
2g.202518890A>TCA350340260BMPR2c.690A>T (p.Lys230Asn)
c.621A>T (p.Lys207Asn)
 ClinVar dbSNP COSMIC
2g.202518890_202518891delinsTCA645293812BMPR2c.690_691delinsT (p.Lys230AsnfsTer22)
c.621_622delinsT (p.Lys207AsnfsTer22)
 ClinVar dbSNP
2g.202518890_202518891delinsAGCA1321539681BMPR2c.690_691delinsAG (p.Lys230=)
c.621_622delinsAG (p.Lys207=)
2g.202518891delCA915941645BMPR2c.691del (p.Val231CysfsTer21)
c.622del (p.Val208CysfsTer21)
 ClinVar dbSNP
2g.202518891G>ACA350340264BMPR2c.691G>A (p.Val231Met)
c.622G>A (p.Val208Met)
2g.202518891G>CCA350340267BMPR2c.691G>C (p.Val231Leu)
c.622G>C (p.Val208Leu)
2g.202518891G>TCA350340262BMPR2c.691G>T (p.Val231Leu)
c.622G>T (p.Val208Leu)
 gnomAD v4
2g.202518892T>ACA350340272BMPR2c.692T>A (p.Val231Glu)
c.623T>A (p.Val208Glu)
2g.202518892T>CCA350340269BMPR2c.692T>C (p.Val231Ala)
c.623T>C (p.Val208Ala)
2g.202518892T>GCA350340270BMPR2c.692T>G (p.Val231Gly)
c.623T>G (p.Val208Gly)
2g.202518893G>ACA430838987BMPR2c.693G>A (p.Val231=)
c.624G>A (p.Val208=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518893G>CCA430838988BMPR2c.693G>C (p.Val231=)
c.624G>C (p.Val208=)
2g.202518893G=CA1321539683BMPR2c.693G= (p.Val231=)
c.624G= (p.Val208=)
2g.202518893G>TCA430838989BMPR2c.693G>T (p.Val231=)
c.624G>T (p.Val208=)
2g.202518894T>ACA350340274BMPR2c.694T>A (p.Phe232Ile)
c.625T>A (p.Phe209Ile)
2g.202518894T>CCA350340275BMPR2c.694T>C (p.Phe232Leu)
c.625T>C (p.Phe209Leu)
 dbSNP
2g.202518894T>GCA350340277BMPR2c.694T>G (p.Phe232Val)
c.625T>G (p.Phe209Val)
2g.202518894T=CA1321539684BMPR2c.694T= (p.Phe232=)
c.625T= (p.Phe209=)
2g.202518897delCA645532629BMPR2c.697del (p.Ser233ProfsTer19)
c.628del (p.Ser210ProfsTer19)
 dbSNP COSMIC
2g.202518895T>ACA350340279BMPR2c.695T>A (p.Phe232Tyr)
c.626T>A (p.Phe209Tyr)
2g.202518895T>CCA350340281BMPR2c.695T>C (p.Phe232Ser)
c.626T>C (p.Phe209Ser)
 gnomAD v4
2g.202518895T>GCA350340283BMPR2c.695T>G (p.Phe232Cys)
c.626T>G (p.Phe209Cys)
2g.202518896T>ACA350340285BMPR2c.696T>A (p.Phe232Leu)
c.627T>A (p.Phe209Leu)
2g.202518896T>CCA430838990BMPR2c.696T>C (p.Phe232=)
c.627T>C (p.Phe209=)
 gnomAD v4
2g.202518896T>GCA350340286BMPR2c.696T>G (p.Phe232Leu)
c.627T>G (p.Phe209Leu)
 dbSNP
2g.202518896T=CA1321539685BMPR2c.696T= (p.Phe232=)
c.627T= (p.Phe209=)
2g.202518897T>ACA350340289BMPR2c.697T>A (p.Ser233Thr)
c.628T>A (p.Ser210Thr)
 dbSNP
2g.202518897T>CCA350340291BMPR2c.697T>C (p.Ser233Pro)
c.628T>C (p.Ser210Pro)
2g.202518897T>GCA350340292BMPR2c.697T>G (p.Ser233Ala)
c.628T>G (p.Ser210Ala)
2g.202518897T=CA1321539686BMPR2c.697T= (p.Ser233=)
c.628T= (p.Ser210=)
2g.202518897_202518898insAAAGAAAGCAAGGTATTAATATCACA2701463853BMPR2c.697_698insAAAGAAAGCAAGGTATTAATATCA (p.Ser233Ter)
c.628_629insAAAGAAAGCAAGGTATTAATATCA (p.Ser210Ter)
 dbSNP
2g.202518898C>ACA350340298BMPR2c.698C>A (p.Ser233Tyr)
c.629C>A (p.Ser210Tyr)
2g.202518898C>GCA350340294BMPR2c.698C>G (p.Ser233Cys)
c.629C>G (p.Ser210Cys)
2g.202518898C>TCA350340296BMPR2c.698C>T (p.Ser233Phe)
c.629C>T (p.Ser210Phe)
 dbSNP gnomAD v4 COSMIC
2g.202518899C>ACA430838994BMPR2c.699C>A (p.Ser233=)
c.630C>A (p.Ser210=)
2g.202518899C>GCA430838998BMPR2c.699C>G (p.Ser233=)
c.630C>G (p.Ser210=)
2g.202518899C>TCA430838995BMPR2c.699C>T (p.Ser233=)
c.630C>T (p.Ser210=)
 dbSNP
2g.202518900T>ACA350340300BMPR2c.700T>A (p.Phe234Ile)
c.631T>A (p.Phe211Ile)
 gnomAD v4
2g.202518900T>CCA350340302BMPR2c.700T>C (p.Phe234Leu)
c.631T>C (p.Phe211Leu)
 gnomAD v4
2g.202518900T>GCA350340304BMPR2c.700T>G (p.Phe234Val)
c.631T>G (p.Phe211Val)

Number of alleles fetched