Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
ClinVar
2g.202514846delCA2662705495BMPR2c.530-42del (n.530-42del)
c.461-42del (n.461-42del)
gnomAD v4
2g.202514845T>ACA2577215566BMPR2c.530-43T>A (n.530-43T>A)
c.461-43T>A (n.461-43T>A)
2g.202514849G>ACA2662705497BMPR2c.530-39G>A (n.530-39G>A)
c.461-39G>A (n.461-39G>A)
gnomAD v4
2g.202514851A=CA1321537817BMPR2c.530-37A= (n.530-37A=)
c.461-37A= (n.461-37A=)
2g.202514851A>GCA538970634BMPR2c.530-37A>G (n.530-37A>G)
c.461-37A>G (n.461-37A>G)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514852A>GCA2662705498BMPR2c.530-36A>G (n.530-36A>G)
c.461-36A>G (n.461-36A>G)
gnomAD v4
2g.202514853A>GCA2662705499BMPR2c.530-35A>G (n.530-35A>G)
c.461-35A>G (n.461-35A>G)
gnomAD v4
2g.202514856A=CA1321537818BMPR2c.530-32A= (n.530-32A=)
c.461-32A= (n.461-32A=)
2g.202514856A>GCA2061141BMPR2c.530-32A>G (n.530-32A>G)
c.461-32A>G (n.461-32A>G)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514857T>CCA1041339653BMPR2c.530-31T>C (n.530-31T>C)
c.461-31T>C (n.461-31T>C)
dbSNP gnomAD v3 gnomAD v4
2g.202514857T=CA1321537819BMPR2c.530-31T= (n.530-31T=)
c.461-31T= (n.461-31T=)
2g.202514858A>TCA2662705500BMPR2c.530-30A>T (n.530-30A>T)
c.461-30A>T (n.461-30A>T)
gnomAD v4
2g.202514859T>ACA2662705501BMPR2c.530-29T>A (n.530-29T>A)
c.461-29T>A (n.461-29T>A)
gnomAD v4
2g.202514859T>CCA1321537821BMPR2c.530-29T>C (n.530-29T>C)
c.461-29T>C (n.461-29T>C)
dbSNP gnomAD v4
2g.202514859T=CA1321537820BMPR2c.530-29T= (n.530-29T=)
c.461-29T= (n.461-29T=)
2g.202514860A=CA1321537822BMPR2c.530-28A= (n.530-28A=)
c.461-28A= (n.461-28A=)
2g.202514860A>GCA763445963BMPR2c.530-28A>G (n.530-28A>G)
c.461-28A>G (n.461-28A>G)
dbSNP gnomAD v4
2g.202514862T>GCA763445964BMPR2c.530-26T>G (n.530-26T>G)
c.461-26T>G (n.461-26T>G)
dbSNP
2g.202514862T=CA1321537823BMPR2c.530-26T= (n.530-26T=)
c.461-26T= (n.461-26T=)
2g.202514864G>CCA538970636BMPR2c.530-24G>C (n.530-24G>C)
c.461-24G>C (n.461-24G>C)
dbSNP gnomAD v2 gnomAD v4
2g.202514864G=CA1321537824BMPR2c.530-24G= (n.530-24G=)
c.461-24G= (n.461-24G=)
2g.202514864G>TCA1041339655BMPR2c.530-24G>T (n.530-24G>T)
c.461-24G>T (n.461-24G>T)
dbSNP gnomAD v3 gnomAD v4
2g.202514865T>GCA763445965BMPR2c.530-23T>G (n.530-23T>G)
c.461-23T>G (n.461-23T>G)
dbSNP
2g.202514865T=CA1321537825BMPR2c.530-23T= (n.530-23T=)
c.461-23T= (n.461-23T=)
2g.202514867delCA2577215567BMPR2c.530-21del (n.530-21del)
c.461-21del (n.461-21del)
2g.202514869C>ACA2662705502BMPR2c.530-19C>A (n.530-19C>A)
c.461-19C>A (n.461-19C>A)
gnomAD v4
2g.202514869C=CA1321537826BMPR2c.530-19C= (n.530-19C=)
c.461-19C= (n.461-19C=)
2g.202514869C>TCA2061142BMPR2c.530-19C>T (n.530-19C>T)
c.461-19C>T (n.461-19C>T)
dbSNP ExAC gnomAD v2
2g.202514869_202514870delinsCTCA1321537827BMPR2c.530-19_530-18delinsCT (n.530-19_530-18delinsCT)
c.461-19_461-18delinsCT (n.461-19_461-18delinsCT)
2g.202514870delCA538970637BMPR2c.530-18del (n.530-18del)
c.461-18del (n.461-18del)
dbSNP gnomAD v2 gnomAD v4
2g.202514870T>GCA2662705503BMPR2c.530-18T>G (n.530-18T>G)
c.461-18T>G (n.461-18T>G)
gnomAD v4
2g.202514871G>TCA2577215568BMPR2c.530-17G>T (n.530-17G>T)
c.461-17G>T (n.461-17G>T)
2g.202514871_202514872delinsGTCA1321537828BMPR2c.530-17_530-16delinsGT (n.530-17_530-16delinsGT)
c.461-17_461-16delinsGT (n.461-17_461-16delinsGT)
2g.202514874delCA763445980BMPR2c.530-14del (n.530-14del)
c.461-14del (n.461-14del)
dbSNP gnomAD v3 gnomAD v4
2g.202514873T>GCA2577215569BMPR2c.530-15T>G (n.530-15T>G)
c.461-15T>G (n.461-15T>G)
gnomAD v4
2g.202514874T>ACA538970642BMPR2c.530-14T>A (n.530-14T>A)
c.461-14T>A (n.461-14T>A)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514874T>CCA2061143BMPR2c.530-14T>C (n.530-14T>C)
c.461-14T>C (n.461-14T>C)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514874T=CA1321537829BMPR2c.530-14T= (n.530-14T=)
c.461-14T= (n.461-14T=)
2g.202514875C>ACA538970648BMPR2c.530-13C>A (n.530-13C>A)
c.461-13C>A (n.461-13C>A)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514875C=CA1321537830BMPR2c.530-13C= (n.530-13C=)
c.461-13C= (n.461-13C=)
2g.202514878G>ACA763445998BMPR2c.530-10G>A (n.530-10G>A)
c.461-10G>A (n.461-10G>A)
dbSNP gnomAD v3 gnomAD v4
2g.202514878G=CA1321537831BMPR2c.530-10G= (n.530-10G=)
c.461-10G= (n.461-10G=)
2g.202514880T>ACA1321537833BMPR2c.530-8T>A (n.530-8T>A)
c.461-8T>A (n.461-8T>A)
dbSNP
2g.202514880T=CA1321537832BMPR2c.530-8T= (n.530-8T=)
c.461-8T= (n.461-8T=)
2g.202514881C>ACA64012780BMPR2c.530-7C>A (n.530-7C>A)
c.461-7C>A (n.461-7C>A)
dbSNP
2g.202514881C=CA1321537834BMPR2c.530-7C= (n.530-7C=)
c.461-7C= (n.461-7C=)
2g.202514881C>TCA2061144BMPR2c.530-7C>T (n.530-7C>T)
c.461-7C>T (n.461-7C>T)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514882T>CCA2701465434BMPR2c.530-6T>C (n.530-6T>C)
c.461-6T>C (n.461-6T>C)
dbSNP
2g.202514882_202514883delCA2662705504BMPR2c.530-6_530-5del (n.530-6_530-5del)
c.461-6_461-5del (n.461-6_461-5del)
gnomAD v4
2g.202514884A=CA1321537835BMPR2c.530-4A= (n.530-4A=)
c.461-4A= (n.461-4A=)
2g.202514884A>CCA2577215571BMPR2c.530-4A>C (n.530-4A>C)
c.461-4A>C (n.461-4A>C)
2g.202514884A>GCA64012781BMPR2c.530-4A>G (n.530-4A>G)
c.461-4A>G (n.461-4A>G)
dbSNP gnomAD v2 gnomAD v4
2g.202514884dupCA2577215570BMPR2c.530-4dup (n.530-4dup)
c.461-4dup (n.461-4dup)
2g.202514885T>CCA763446004BMPR2c.530-3T>C (n.530-3T>C)
c.461-3T>C (n.461-3T>C)
dbSNP gnomAD v3 gnomAD v4
2g.202514885T=CA1321537836BMPR2c.530-3T= (n.530-3T=)
c.461-3T= (n.461-3T=)
2g.202514886A>CCA350338618BMPR2c.530-2A>C (n.530-2A>C)
c.461-2A>C (n.461-2A>C)
2g.202514886A>GCA350338620BMPR2c.530-2A>G (n.530-2A>G)
c.461-2A>G (n.461-2A>G)
ClinVar dbSNP
2g.202514886A>TCA350338623BMPR2c.530-2A>T (n.530-2A>T)
c.461-2A>T (n.461-2A>T)
COSMIC
2g.202514886_202514887insCTGTCA2662705505BMPR2c.530-2_530-1insCTGT (n.530-2_530-1insCTGT)
c.461-2_461-1insCTGT (n.461-2_461-1insCTGT)
gnomAD v4
2g.202514887G>ACA350338627BMPR2c.530-1G>A (n.530-1G>A)
c.461-1G>A (n.461-1G>A)
2g.202514887G>CCA350338628BMPR2c.530-1G>C (n.530-1G>C)
c.461-1G>C (n.461-1G>C)
2g.202514887G>TCA350338629BMPR2c.530-1G>T (n.530-1G>T)
c.461-1G>T (n.461-1G>T)
2g.202514888G>ACA350338638BMPR2c.530G>A (p.Gly177Glu)
c.461G>A (p.Gly154Glu)
gnomAD v4
2g.202514888G>CCA350338633BMPR2c.530G>C (p.Gly177Ala)
c.461G>C (p.Gly154Ala)
dbSNP gnomAD v3 gnomAD v4
2g.202514888G=CA1321537837BMPR2c.530G= (p.Gly177=)
c.461G= (p.Gly154=)
2g.202514888G>TCA350338636BMPR2c.530G>T (p.Gly177Val)
c.461G>T (p.Gly154Val)
2g.202514889A=CA1321537838BMPR2c.531A= (p.Gly177=)
c.462A= (p.Gly154=)
2g.202514889A>CCA430838524BMPR2c.531A>C (p.Gly177=)
c.462A>C (p.Gly154=)
2g.202514889A>GCA430838525BMPR2c.531A>G (p.Gly177=)
c.462A>G (p.Gly154=)
dbSNP gnomAD v2 gnomAD v4
2g.202514889A>TCA430838526BMPR2c.531A>T (p.Gly177=)
c.462A>T (p.Gly154=)
2g.202514890G>ACA350338641BMPR2c.532G>A (p.Asp178Asn)
c.463G>A (p.Asp155Asn)
dbSNP gnomAD v2
2g.202514890G>CCA350338644BMPR2c.532G>C (p.Asp178His)
c.463G>C (p.Asp155His)
2g.202514890G=CA1321537839BMPR2c.532G= (p.Asp178=)
c.463G= (p.Asp155=)
2g.202514890G>TCA350338646BMPR2c.532G>T (p.Asp178Tyr)
c.463G>T (p.Asp155Tyr)
2g.202514891_202514894dupCA915941639BMPR2c.533_536dup (p.Lys180ProfsTer2)
c.464_467dup (p.Lys157ProfsTer2)
ClinVar dbSNP
2g.202514891A>CCA350338649BMPR2c.533A>C (p.Asp178Ala)
c.464A>C (p.Asp155Ala)
2g.202514891A>GCA350338652BMPR2c.533A>G (p.Asp178Gly)
c.464A>G (p.Asp155Gly)
2g.202514891A>TCA350338654BMPR2c.533A>T (p.Asp178Val)
c.464A>T (p.Asp155Val)
2g.202514892C>ACA350338659BMPR2c.534C>A (p.Asp178Glu)
c.465C>A (p.Asp155Glu)
2g.202514892C>GCA350338656BMPR2c.534C>G (p.Asp178Glu)
c.465C>G (p.Asp155Glu)
2g.202514892C>TCA430838530BMPR2c.534C>T (p.Asp178=)
c.465C>T (p.Asp155=)
2g.202514893C>ACA350338661BMPR2c.535C>A (p.Arg179Ser)
c.466C>A (p.Arg156Ser)
2g.202514893C>GCA350338664BMPR2c.535C>G (p.Arg179Gly)
c.466C>G (p.Arg156Gly)
2g.202514893C>TCA350338667BMPR2c.535C>T (p.Arg179Cys)
c.466C>T (p.Arg156Cys)
gnomAD v4 COSMIC
2g.202514894G>ACA2061145BMPR2c.536G>A (p.Arg179His)
c.467G>A (p.Arg156His)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202514894G>CCA350338671BMPR2c.536G>C (p.Arg179Pro)
c.467G>C (p.Arg156Pro)
gnomAD v4
2g.202514894G=CA1321537840BMPR2c.536G= (p.Arg179=)
c.467G= (p.Arg156=)
2g.202514894G>TCA350338673BMPR2c.536G>T (p.Arg179Leu)
c.467G>T (p.Arg156Leu)
2g.202514895T>ACA430838534BMPR2c.537T>A (p.Arg179=)
c.468T>A (p.Arg156=)
2g.202514895T>CCA430838533BMPR2c.537T>C (p.Arg179=)
c.468T>C (p.Arg156=)
gnomAD v4
2g.202514895T>GCA430838532BMPR2c.537T>G (p.Arg179=)
c.468T>G (p.Arg156=)
2g.202514896A=CA1321537841BMPR2c.538A= (p.Lys180=)
c.469A= (p.Lys157=)
2g.202514896A>CCA2061146BMPR2c.538A>C (p.Lys180Gln)
c.469A>C (p.Lys157Gln)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514896A>GCA350338677BMPR2c.538A>G (p.Lys180Glu)
c.469A>G (p.Lys157Glu)
2g.202514896A>TCA350338680BMPR2c.538A>T (p.Lys180Ter)
c.469A>T (p.Lys157Ter)
2g.202514897A=CA1321537842BMPR2c.539A= (p.Lys180=)
c.470A= (p.Lys157=)
2g.202514897A>CCA350338685BMPR2c.539A>C (p.Lys180Thr)
c.470A>C (p.Lys157Thr)
2g.202514897A>GCA350338686BMPR2c.539A>G (p.Lys180Arg)
c.470A>G (p.Lys157Arg)
2g.202514897A>TCA350338688BMPR2c.539A>T (p.Lys180Ile)
c.470A>T (p.Lys157Ile)
dbSNP gnomAD v2 gnomAD v4
2g.202514898A=CA1321537843BMPR2c.540A= (p.Lys180=)
c.471A= (p.Lys157=)
2g.202514898A>CCA350338691BMPR2c.540A>C (p.Lys180Asn)
c.471A>C (p.Lys157Asn)
2g.202514898A>GCA430838535BMPR2c.540A>G (p.Lys180=)
c.471A>G (p.Lys157=)
dbSNP gnomAD v3 gnomAD v4
2g.202514898A>TCA350338694BMPR2c.540A>T (p.Lys180Asn)
c.471A>T (p.Lys157Asn)
2g.202514899C>ACA350338696BMPR2c.541C>A (p.Gln181Lys)
c.472C>A (p.Gln158Lys)
COSMIC
2g.202514899C=CA1321537844BMPR2c.541C= (p.Gln181=)
c.472C= (p.Gln158=)
2g.202514899C>GCA350338698BMPR2c.541C>G (p.Gln181Glu)
c.472C>G (p.Gln158Glu)
2g.202514899C>TCA350338700BMPR2c.541C>T (p.Gln181Ter)
c.472C>T (p.Gln158Ter)
ClinVar dbSNP
2g.202514900A=CA1321537845BMPR2c.542A= (p.Gln181=)
c.473A= (p.Gln158=)
2g.202514900A>CCA350338702BMPR2c.542A>C (p.Gln181Pro)
c.473A>C (p.Gln158Pro)
2g.202514900A>GCA350338705BMPR2c.542A>G (p.Gln181Arg)
c.473A>G (p.Gln158Arg)
dbSNP gnomAD v4
2g.202514900A>TCA350338708BMPR2c.542A>T (p.Gln181Leu)
c.473A>T (p.Gln158Leu)
2g.202514901A>CCA350338712BMPR2c.543A>C (p.Gln181His)
c.474A>C (p.Gln158His)
2g.202514901A>GCA430838539BMPR2c.543A>G (p.Gln181=)
c.474A>G (p.Gln158=)
2g.202514901A>TCA350338715BMPR2c.543A>T (p.Gln181His)
c.474A>T (p.Gln158His)
2g.202514901_202514902delCA2586971004BMPR2c.543_544del (p.Gly182SerfsTer17)
c.474_475del (p.Gly159SerfsTer17)
2g.202514902G>ACA350338723BMPR2c.544G>A (p.Gly182Ser)
c.475G>A (p.Gly159Ser)
dbSNP gnomAD v4
2g.202514902G>CCA350338719BMPR2c.544G>C (p.Gly182Arg)
c.475G>C (p.Gly159Arg)
2g.202514902G=CA1321537846BMPR2c.544G= (p.Gly182=)
c.475G= (p.Gly159=)
2g.202514902G>TCA350338720BMPR2c.544G>T (p.Gly182Cys)
c.475G>T (p.Gly159Cys)
2g.202514903G>ACA119936BMPR2c.545G>A (p.Gly182Asp)
c.476G>A (p.Gly159Asp)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514903G>CCA350338728BMPR2c.545G>C (p.Gly182Ala)
c.476G>C (p.Gly159Ala)
2g.202514903G=CA1321537847BMPR2c.545G= (p.Gly182=)
c.476G= (p.Gly159=)
2g.202514903G>TCA350338730BMPR2c.545G>T (p.Gly182Val)
c.476G>T (p.Gly159Val)
2g.202514904T>ACA430838542BMPR2c.546T>A (p.Gly182=)
c.477T>A (p.Gly159=)
2g.202514904T>CCA430838543BMPR2c.546T>C (p.Gly182=)
c.477T>C (p.Gly159=)
2g.202514904T>GCA430838544BMPR2c.546T>G (p.Gly182=)
c.477T>G (p.Gly159=)
2g.202514905C>ACA350338733BMPR2c.547C>A (p.Leu183Ile)
c.478C>A (p.Leu160Ile)
2g.202514905C=CA1321537848BMPR2c.547C= (p.Leu183=)
c.478C= (p.Leu160=)
2g.202514905C>GCA350338736BMPR2c.547C>G (p.Leu183Val)
c.478C>G (p.Leu160Val)
dbSNP gnomAD v3 gnomAD v4
2g.202514905C>TCA350338738BMPR2c.547C>T (p.Leu183Phe)
c.478C>T (p.Leu160Phe)
2g.202514906T>ACA350338743BMPR2c.548T>A (p.Leu183His)
c.479T>A (p.Leu160His)
2g.202514906T>CCA350338744BMPR2c.548T>C (p.Leu183Pro)
c.479T>C (p.Leu160Pro)
2g.202514906T>GCA350338746BMPR2c.548T>G (p.Leu183Arg)
c.479T>G (p.Leu160Arg)
2g.202514907T>ACA430838547BMPR2c.549T>A (p.Leu183=)
c.480T>A (p.Leu160=)
2g.202514907T>CCA2061147BMPR2c.549T>C (p.Leu183=)
c.480T>C (p.Leu160=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514907T>GCA430838548BMPR2c.549T>G (p.Leu183=)
c.480T>G (p.Leu160=)
2g.202514907T=CA1321537849BMPR2c.549T= (p.Leu183=)
c.480T= (p.Leu160=)
2g.202514908C>ACA350338751BMPR2c.550C>A (p.His184Asn)
c.481C>A (p.His161Asn)
2g.202514908C=CA1321537851BMPR2c.550C= (p.His184=)
c.481C= (p.His161=)
2g.202514908C>GCA350338754BMPR2c.550C>G (p.His184Asp)
c.481C>G (p.His161Asp)
2g.202514908C>TCA350338757BMPR2c.550C>T (p.His184Tyr)
c.481C>T (p.His161Tyr)
dbSNP
2g.202514908_202514931delinsCACAGTATGAACATGATGGAGGCACA1321537850BMPR2c.550_573delinsCACAGTATGAACATGATGGAGGCA (p.His184=)
c.481_504delinsCACAGTATGAACATGATGGAGGCA (p.His161=)
2g.202514909A>CCA350338765BMPR2c.551A>C (p.His184Pro)
c.482A>C (p.His161Pro)
2g.202514909A>GCA350338763BMPR2c.551A>G (p.His184Arg)
c.482A>G (p.His161Arg)
2g.202514909A>TCA350338761BMPR2c.551A>T (p.His184Leu)
c.482A>T (p.His161Leu)
2g.202514909dupCA2586971005BMPR2c.551dup (p.His184GlnfsTer16)
c.482dup (p.His161GlnfsTer16)
2g.202514909_202514931delCA645293805BMPR2c.551_573del (p.His184ArgfsTer8)
c.482_504del (p.His161ArgfsTer8)
ClinVar dbSNP
2g.202514910C>ACA350338767BMPR2c.552C>A (p.His184Gln)
c.483C>A (p.His161Gln)
2g.202514910C>GCA350338770BMPR2c.552C>G (p.His184Gln)
c.483C>G (p.His161Gln)
2g.202514910C>TCA430838549BMPR2c.552C>T (p.His184=)
c.483C>T (p.His161=)
2g.202514911A=CA1321537852BMPR2c.553A= (p.Ser185=)
c.484A= (p.Ser162=)
2g.202514911A>CCA350338774BMPR2c.553A>C (p.Ser185Arg)
c.484A>C (p.Ser162Arg)
2g.202514911A>GCA350338775BMPR2c.553A>G (p.Ser185Gly)
c.484A>G (p.Ser162Gly)
dbSNP gnomAD v3 gnomAD v4
2g.202514911A>TCA350338778BMPR2c.553A>T (p.Ser185Cys)
c.484A>T (p.Ser162Cys)
2g.202514912G>ACA350338782BMPR2c.554G>A (p.Ser185Asn)
c.485G>A (p.Ser162Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202514912G>CCA350338785BMPR2c.554G>C (p.Ser185Thr)
c.485G>C (p.Ser162Thr)
2g.202514912G=CA1321537853BMPR2c.554G= (p.Ser185=)
c.485G= (p.Ser162=)
2g.202514912G>TCA350338787BMPR2c.554G>T (p.Ser185Ile)
c.485G>T (p.Ser162Ile)
dbSNP
2g.202514913T>ACA350338789BMPR2c.555T>A (p.Ser185Arg)
c.486T>A (p.Ser162Arg)
2g.202514913T>CCA430838550BMPR2c.555T>C (p.Ser185=)
c.486T>C (p.Ser162=)
2g.202514913T>GCA350338792BMPR2c.555T>G (p.Ser185Arg)
c.486T>G (p.Ser162Arg)
2g.202514914A=CA1321537854BMPR2c.556A= (p.Met186=)
c.487A= (p.Met163=)
2g.202514914A>CCA350338795BMPR2c.556A>C (p.Met186Leu)
c.487A>C (p.Met163Leu)
2g.202514914A>GCA350338798BMPR2c.556A>G (p.Met186Val)
c.487A>G (p.Met163Val)
ClinVar dbSNP
2g.202514914A>TCA350338799BMPR2c.556A>T (p.Met186Leu)
c.487A>T (p.Met163Leu)
2g.202514915T>ACA350338804BMPR2c.557T>A (p.Met186Lys)
c.488T>A (p.Met163Lys)
2g.202514915T>CCA350338807BMPR2c.557T>C (p.Met186Thr)
c.488T>C (p.Met163Thr)
2g.202514915T>GCA350338802BMPR2c.557T>G (p.Met186Arg)
c.488T>G (p.Met163Arg)
2g.202514916G>ACA350338810BMPR2c.558G>A (p.Met186Ile)
c.489G>A (p.Met163Ile)
2g.202514916G>CCA350338813BMPR2c.558G>C (p.Met186Ile)
c.489G>C (p.Met163Ile)
2g.202514916G>TCA350338811BMPR2c.558G>T (p.Met186Ile)
c.489G>T (p.Met163Ile)
COSMIC
2g.202514917A>CCA350338817BMPR2c.559A>C (p.Asn187His)
c.490A>C (p.Asn164His)
2g.202514917A>GCA350338818BMPR2c.559A>G (p.Asn187Asp)
c.490A>G (p.Asn164Asp)
2g.202514917A>TCA350338820BMPR2c.559A>T (p.Asn187Tyr)
c.490A>T (p.Asn164Tyr)
2g.202514918A>CCA350338823BMPR2c.560A>C (p.Asn187Thr)
c.491A>C (p.Asn164Thr)
2g.202514918A>GCA350338825BMPR2c.560A>G (p.Asn187Ser)
c.491A>G (p.Asn164Ser)
2g.202514918A>TCA350338827BMPR2c.560A>T (p.Asn187Ile)
c.491A>T (p.Asn164Ile)
2g.202514919C>ACA350338828BMPR2c.561C>A (p.Asn187Lys)
c.492C>A (p.Asn164Lys)
2g.202514919C>GCA350338831BMPR2c.561C>G (p.Asn187Lys)
c.492C>G (p.Asn164Lys)
2g.202514919C>TCA430838557BMPR2c.561C>T (p.Asn187=)
c.492C>T (p.Asn164=)
2g.202514920A=CA1321537855BMPR2c.562A= (p.Met188=)
c.493A= (p.Met165=)
2g.202514920A>CCA350338836BMPR2c.562A>C (p.Met188Leu)
c.493A>C (p.Met165Leu)
2g.202514920A>GCA350338837BMPR2c.562A>G (p.Met188Val)
c.493A>G (p.Met165Val)
dbSNP
2g.202514920A>TCA350338840BMPR2c.562A>T (p.Met188Leu)
c.493A>T (p.Met165Leu)
2g.202514921T>ACA350338848BMPR2c.563T>A (p.Met188Lys)
c.494T>A (p.Met165Lys)
gnomAD v4
2g.202514921T>CCA2061148BMPR2c.563T>C (p.Met188Thr)
c.494T>C (p.Met165Thr)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514921T>GCA350338843BMPR2c.563T>G (p.Met188Arg)
c.494T>G (p.Met165Arg)
2g.202514921T=CA1321537856BMPR2c.563T= (p.Met188=)
c.494T= (p.Met165=)
2g.202514922G>ACA350338852BMPR2c.564G>A (p.Met188Ile)
c.495G>A (p.Met165Ile)
2g.202514922G>CCA350338854BMPR2c.564G>C (p.Met188Ile)
c.495G>C (p.Met165Ile)
2g.202514922G>TCA350338857BMPR2c.564G>T (p.Met188Ile)
c.495G>T (p.Met165Ile)
2g.202514923A>CCA350338861BMPR2c.565A>C (p.Met189Leu)
c.496A>C (p.Met166Leu)
2g.202514923A>GCA350338864BMPR2c.565A>G (p.Met189Val)
c.496A>G (p.Met166Val)
2g.202514923A>TCA350338866BMPR2c.565A>T (p.Met189Leu)
c.496A>T (p.Met166Leu)
2g.202514924T>ACA2061149BMPR2c.566T>A (p.Met189Lys)
c.497T>A (p.Met166Lys)
dbSNP ExAC gnomAD v2
2g.202514924T>CCA350338874BMPR2c.566T>C (p.Met189Thr)
c.497T>C (p.Met166Thr)
2g.202514924T>GCA350338877BMPR2c.566T>G (p.Met189Arg)
c.497T>G (p.Met166Arg)
gnomAD v4
2g.202514924T=CA1321537857BMPR2c.566T= (p.Met189=)
c.497T= (p.Met166=)
2g.202514925G>ACA350338880BMPR2c.567G>A (p.Met189Ile)
c.498G>A (p.Met166Ile)
2g.202514925G>CCA350338882BMPR2c.567G>C (p.Met189Ile)
c.498G>C (p.Met166Ile)
2g.202514925G>TCA350338885BMPR2c.567G>T (p.Met189Ile)
c.498G>T (p.Met166Ile)
2g.202514926G>ACA350338892BMPR2c.568G>A (p.Glu190Lys)
c.499G>A (p.Glu167Lys)
2g.202514926G>CCA350338890BMPR2c.568G>C (p.Glu190Gln)
c.499G>C (p.Glu167Gln)
2g.202514926G>TCA350338888BMPR2c.568G>T (p.Glu190Ter)
c.499G>T (p.Glu167Ter)
2g.202514927A>CCA350338896BMPR2c.569A>C (p.Glu190Ala)
c.500A>C (p.Glu167Ala)
2g.202514927A>GCA350338899BMPR2c.569A>G (p.Glu190Gly)
c.500A>G (p.Glu167Gly)
gnomAD v4
2g.202514927A>TCA350338901BMPR2c.569A>T (p.Glu190Val)
c.500A>T (p.Glu167Val)
2g.202514928G>ACA430838561BMPR2c.570G>A (p.Glu190=)
c.501G>A (p.Glu167=)
2g.202514928G>CCA350338905BMPR2c.570G>C (p.Glu190Asp)
c.501G>C (p.Glu167Asp)
2g.202514928G=CA1321537858BMPR2c.570G= (p.Glu190=)
c.501G= (p.Glu167=)
2g.202514928G>TCA350338907BMPR2c.570G>T (p.Glu190Asp)
c.501G>T (p.Glu167Asp)
2g.202514929G>ACA2061151BMPR2c.571G>A (p.Ala191Thr)
c.502G>A (p.Ala168Thr)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514929G>CCA350338916BMPR2c.571G>C (p.Ala191Pro)
c.502G>C (p.Ala168Pro)
2g.202514929G=CA1321537859BMPR2c.571G= (p.Ala191=)
c.502G= (p.Ala168=)
2g.202514929G>TCA350338918BMPR2c.571G>T (p.Ala191Ser)
c.502G>T (p.Ala168Ser)
2g.202514935_202514937dupCA2061150BMPR2c.577_579dup (p.Ala193_Ser194insAla)
c.508_510dup (p.Ala170_Ser171insAla)
dbSNP ExAC gnomAD v2
2g.202514930C>ACA350338920BMPR2c.572C>A (p.Ala191Glu)
c.503C>A (p.Ala168Glu)
2g.202514930C>GCA350338923BMPR2c.572C>G (p.Ala191Gly)
c.503C>G (p.Ala168Gly)
2g.202514930C>TCA350338926BMPR2c.572C>T (p.Ala191Val)
c.503C>T (p.Ala168Val)
2g.202514931A>CCA430838565BMPR2c.573A>C (p.Ala191=)
c.504A>C (p.Ala168=)
gnomAD v4
2g.202514931A>GCA430838566BMPR2c.573A>G (p.Ala191=)
c.504A>G (p.Ala168=)
gnomAD v4
2g.202514931A>TCA430838567BMPR2c.573A>T (p.Ala191=)
c.504A>T (p.Ala168=)
2g.202514932G>ACA350338933BMPR2c.574G>A (p.Ala192Thr)
c.505G>A (p.Ala169Thr)
2g.202514932G>CCA350338931BMPR2c.574G>C (p.Ala192Pro)
c.505G>C (p.Ala169Pro)
2g.202514932G>TCA350338930BMPR2c.574G>T (p.Ala192Ser)
c.505G>T (p.Ala169Ser)
2g.202514933C>ACA350338938BMPR2c.575C>A (p.Ala192Glu)
c.506C>A (p.Ala169Glu)
2g.202514933C>GCA350338940BMPR2c.575C>G (p.Ala192Gly)
c.506C>G (p.Ala169Gly)
gnomAD v4
2g.202514933C>TCA350338943BMPR2c.575C>T (p.Ala192Val)
c.506C>T (p.Ala169Val)
gnomAD v4
2g.202514934A=CA1321537860BMPR2c.576A= (p.Ala192=)
c.507A= (p.Ala169=)
2g.202514934A>CCA430838569BMPR2c.576A>C (p.Ala192=)
c.507A>C (p.Ala169=)
gnomAD v4
2g.202514934A>GCA430838570BMPR2c.576A>G (p.Ala192=)
c.507A>G (p.Ala169=)
dbSNP COSMIC
2g.202514934A>TCA430838571BMPR2c.576A>T (p.Ala192=)
c.507A>T (p.Ala169=)
2g.202514935G>ACA350338947BMPR2c.577G>A (p.Ala193Thr)
c.508G>A (p.Ala170Thr)
gnomAD v4
2g.202514935G>CCA350338950BMPR2c.577G>C (p.Ala193Pro)
c.508G>C (p.Ala170Pro)
2g.202514935G>TCA350338953BMPR2c.577G>T (p.Ala193Ser)
c.508G>T (p.Ala170Ser)
2g.202514936C>ACA350338956BMPR2c.578C>A (p.Ala193Glu)
c.509C>A (p.Ala170Glu)
2g.202514936C>GCA350338958BMPR2c.578C>G (p.Ala193Gly)
c.509C>G (p.Ala170Gly)
gnomAD v4
2g.202514936C>TCA350338960BMPR2c.578C>T (p.Ala193Val)
c.509C>T (p.Ala170Val)
gnomAD v4
2g.202514937A>CCA430838572BMPR2c.579A>C (p.Ala193=)
c.510A>C (p.Ala170=)
2g.202514937A>GCA430838573BMPR2c.579A>G (p.Ala193=)
c.510A>G (p.Ala170=)
2g.202514937A>TCA430838574BMPR2c.579A>T (p.Ala193=)
c.510A>T (p.Ala170=)
2g.202514938T>ACA350338964BMPR2c.580T>A (p.Ser194Thr)
c.511T>A (p.Ser171Thr)
2g.202514938T>CCA350338966BMPR2c.580T>C (p.Ser194Pro)
c.511T>C (p.Ser171Pro)
2g.202514938T>GCA350338969BMPR2c.580T>G (p.Ser194Ala)
c.511T>G (p.Ser171Ala)
2g.202514939C>ACA350338972BMPR2c.581C>A (p.Ser194Tyr)
c.512C>A (p.Ser171Tyr)
2g.202514939C=CA1321537861BMPR2c.581C= (p.Ser194=)
c.512C= (p.Ser171=)
2g.202514939C>GCA350338975BMPR2c.581C>G (p.Ser194Cys)
c.512C>G (p.Ser171Cys)
dbSNP gnomAD v4
2g.202514939C>TCA2061152BMPR2c.581C>T (p.Ser194Phe)
c.512C>T (p.Ser171Phe)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514940C>ACA430838579BMPR2c.582C>A (p.Ser194=)
c.513C>A (p.Ser171=)
2g.202514940C=CA1321537862BMPR2c.582C= (p.Ser194=)
c.513C= (p.Ser171=)
2g.202514940C>GCA430838578BMPR2c.582C>G (p.Ser194=)
c.513C>G (p.Ser171=)
2g.202514940C>TCA2061153BMPR2c.582C>T (p.Ser194=)
c.513C>T (p.Ser171=)
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514941G>ACA2061154BMPR2c.583G>A (p.Glu195Lys)
c.514G>A (p.Glu172Lys)
dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
2g.202514941G>CCA350338983BMPR2c.583G>C (p.Glu195Gln)
c.514G>C (p.Glu172Gln)
2g.202514941G=CA1321537863BMPR2c.583G= (p.Glu195=)
c.514G= (p.Glu172=)
2g.202514941G>TCA130278BMPR2c.583G>T (p.Glu195Ter)
c.514G>T (p.Glu172Ter)
ClinVar dbSNP
2g.202514942A>CCA350338990BMPR2c.584A>C (p.Glu195Ala)
c.515A>C (p.Glu172Ala)
2g.202514942A>GCA350338994BMPR2c.584A>G (p.Glu195Gly)
c.515A>G (p.Glu172Gly)
2g.202514942A>TCA350338993BMPR2c.584A>T (p.Glu195Val)
c.515A>T (p.Glu172Val)
2g.202514943A>CCA350338997BMPR2c.585A>C (p.Glu195Asp)
c.516A>C (p.Glu172Asp)
gnomAD v4
2g.202514943A>GCA430838583BMPR2c.585A>G (p.Glu195=)
c.516A>G (p.Glu172=)
2g.202514943A>TCA350338999BMPR2c.585A>T (p.Glu195Asp)
c.516A>T (p.Glu172Asp)
2g.202514944C>ACA350339003BMPR2c.586C>A (p.Pro196Thr)
c.517C>A (p.Pro173Thr)
2g.202514944C>GCA350339006BMPR2c.586C>G (p.Pro196Ala)
c.517C>G (p.Pro173Ala)
2g.202514944C>TCA350339007BMPR2c.586C>T (p.Pro196Ser)
c.517C>T (p.Pro173Ser)
2g.202514945C>ACA350339016BMPR2c.587C>A (p.Pro196His)
c.518C>A (p.Pro173His)
2g.202514945C>GCA350339018BMPR2c.587C>G (p.Pro196Arg)
c.518C>G (p.Pro173Arg)
2g.202514945C>TCA350339020BMPR2c.587C>T (p.Pro196Leu)
c.518C>T (p.Pro173Leu)

Number of alleles fetched