Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202513659A>TCA2662705349BMPR2c.419-60A>T (n.419-60A>T)
c.350-60A>T (n.350-60A>T)
 gnomAD v4
2g.202513660G>ACA2662705350BMPR2c.419-59G>A (n.419-59G>A)
c.350-59G>A (n.350-59G>A)
 gnomAD v4
2g.202513660G>TCA2662705351BMPR2c.419-59G>T (n.419-59G>T)
c.350-59G>T (n.350-59G>T)
 gnomAD v4
2g.202513661T>CCA2753905451BMPR2c.419-58T>C (n.419-58T>C)
c.350-58T>C (n.350-58T>C)
2g.202513663T>CCA64011878BMPR2c.419-56T>C (n.419-56T>C)
c.350-56T>C (n.350-56T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202513663T=CA1321537270BMPR2c.419-56T= (n.419-56T=)
c.350-56T= (n.350-56T=)
2g.202513666A>TCA2662705352BMPR2c.419-53A>T (n.419-53A>T)
c.350-53A>T (n.350-53A>T)
 gnomAD v4
2g.202513667A=CA1321537271BMPR2c.419-52A= (n.419-52A=)
c.350-52A= (n.350-52A=)
2g.202513667A>GCA2662705353BMPR2c.419-52A>G (n.419-52A>G)
c.350-52A>G (n.350-52A>G)
 gnomAD v4
2g.202513667A>TCA64011881BMPR2c.419-52A>T (n.419-52A>T)
c.350-52A>T (n.350-52A>T)
 dbSNP gnomAD v4
2g.202513668C>ACA2662705354BMPR2c.419-51C>A (n.419-51C>A)
c.350-51C>A (n.350-51C>A)
 gnomAD v4
2g.202513668C>GCA2577215535BMPR2c.419-51C>G (n.419-51C>G)
c.350-51C>G (n.350-51C>G)
2g.202513670A>TCA2577215536BMPR2c.419-49A>T (n.419-49A>T)
c.350-49A>T (n.350-49A>T)
2g.202513673T>CCA2577215537BMPR2c.419-46T>C (n.419-46T>C)
c.350-46T>C (n.350-46T>C)
 gnomAD v4
2g.202513674_202513676delinsACTCA1321537272BMPR2c.419-45_419-43delinsACT (n.419-45_419-43delinsACT)
c.350-45_350-43delinsACT (n.350-45_350-43delinsACT)
2g.202513675C>ACA2061115BMPR2c.419-44C>A (n.419-44C>A)
c.350-44C>A (n.350-44C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513675C=CA1321537273BMPR2c.419-44C= (n.419-44C=)
c.350-44C= (n.350-44C=)
2g.202513675C>GCA763444926BMPR2c.419-44C>G (n.419-44C>G)
c.350-44C>G (n.350-44C>G)
 dbSNP gnomAD v3 gnomAD v4
2g.202513675C>TCA2061114BMPR2c.419-44C>T (n.419-44C>T)
c.350-44C>T (n.350-44C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513675_202513676delCA1321537275BMPR2c.419-44_419-43del (n.419-44_419-43del)
c.350-44_350-43del (n.350-44_350-43del)
 dbSNP
2g.202513675_202513677delinsCTTCA1321537274BMPR2c.419-44_419-42delinsCTT (n.419-44_419-42delinsCTT)
c.350-44_350-42delinsCTT (n.350-44_350-42delinsCTT)
2g.202513676T>CCA1321537278BMPR2c.419-43T>C (n.419-43T>C)
c.350-43T>C (n.350-43T>C)
 dbSNP gnomAD v4
2g.202513676T>GCA2563514543BMPR2c.419-43T>G (n.419-43T>G)
c.350-43T>G (n.350-43T>G)
 gnomAD v4
2g.202513676T=CA1321537277BMPR2c.419-43T= (n.419-43T=)
c.350-43T= (n.350-43T=)
2g.202513681dupCA2662705355BMPR2c.419-38dup (n.419-38dup)
c.350-38dup (n.350-38dup)
 dbSNP gnomAD v4
2g.202513681delCA2061113BMPR2c.419-38del (n.419-38del)
c.350-38del (n.350-38del)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513680_202513681delCA1321537276BMPR2c.419-39_419-38del (n.419-39_419-38del)
c.350-39_350-38del (n.350-39_350-38del)
 dbSNP
2g.202513680T>ACA2662705356BMPR2c.419-39T>A (n.419-39T>A)
c.350-39T>A (n.350-39T>A)
 gnomAD v4
2g.202513680_202513681insACA2662705357BMPR2c.419-39_419-38insA (n.419-39_419-38insA)
c.350-39_350-38insA (n.350-39_350-38insA)
 gnomAD v4
2g.202513680_202513681insAACA2662705358BMPR2c.419-39_419-38insAA (n.419-39_419-38insAA)
c.350-39_350-38insAA (n.350-39_350-38insAA)
 gnomAD v4
2g.202513681T>ACA2061116BMPR2c.419-38T>A (n.419-38T>A)
c.350-38T>A (n.350-38T>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513681T>CCA2753905464BMPR2c.419-38T>C (n.419-38T>C)
c.350-38T>C (n.350-38T>C)
2g.202513681T=CA1321537279BMPR2c.419-38T= (n.419-38T=)
c.350-38T= (n.350-38T=)
2g.202513681_202513682delCA2662705359BMPR2c.419-38_419-37del (n.419-38_419-37del)
c.350-38_350-37del (n.350-38_350-37del)
 gnomAD v4
2g.202513681_202513682delinsTACA1321537280BMPR2c.419-38_419-37delinsTA (n.419-38_419-37delinsTA)
c.350-38_350-37delinsTA (n.350-38_350-37delinsTA)
2g.202513682A=CA1321537281BMPR2c.419-37A= (n.419-37A=)
c.350-37A= (n.350-37A=)
2g.202513682A>TCA2061119BMPR2c.419-37A>T (n.419-37A>T)
c.350-37A>T (n.350-37A>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513690dupCA2061117BMPR2c.419-29dup (n.419-29dup)
c.350-29dup (n.350-29dup)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513689_202513690dupCA2662705360BMPR2c.419-30_419-29dup (n.419-30_419-29dup)
c.350-30_350-29dup (n.350-30_350-29dup)
 gnomAD v4
2g.202513690delCA2061118BMPR2c.419-29del (n.419-29del)
c.350-29del (n.350-29del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513684A=CA1321537282BMPR2c.419-35A= (n.419-35A=)
c.350-35A= (n.350-35A=)
2g.202513684A>GCA538969738BMPR2c.419-35A>G (n.419-35A>G)
c.350-35A>G (n.350-35A>G)
 dbSNP gnomAD v2
2g.202513685A>GCA2662705361BMPR2c.419-34A>G (n.419-34A>G)
c.350-34A>G (n.350-34A>G)
 gnomAD v4
2g.202513686A>CCA2662705362BMPR2c.419-33A>C (n.419-33A>C)
c.350-33A>C (n.350-33A>C)
 gnomAD v4
2g.202513687A=CA1321537283BMPR2c.419-32A= (n.419-32A=)
c.350-32A= (n.350-32A=)
2g.202513687A>CCA1321537284BMPR2c.419-32A>C (n.419-32A>C)
c.350-32A>C (n.350-32A>C)
 dbSNP
2g.202513689_202513695dupCA763444972BMPR2c.419-30_419-24dup (n.419-30_419-24dup)
c.350-30_350-24dup (n.350-30_350-24dup)
 dbSNP gnomAD v3 gnomAD v4
2g.202513689A=CA1321537285BMPR2c.419-30A= (n.419-30A=)
c.350-30A= (n.350-30A=)
2g.202513689A>GCA2662705363BMPR2c.419-30A>G (n.419-30A>G)
c.350-30A>G (n.350-30A>G)
 gnomAD v4
2g.202513689A>TCA2061120BMPR2c.419-30A>T (n.419-30A>T)
c.350-30A>T (n.350-30A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513690A=CA1321537286BMPR2c.419-29A= (n.419-29A=)
c.350-29A= (n.350-29A=)
2g.202513690A>GCA538969739BMPR2c.419-29A>G (n.419-29A>G)
c.350-29A>G (n.350-29A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202513690A>TCA2061121BMPR2c.419-29A>T (n.419-29A>T)
c.350-29A>T (n.350-29A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513691T>ACA2061122BMPR2c.419-28T>A (n.419-28T>A)
c.350-28T>A (n.350-28T>A)
 dbSNP ExAC
2g.202513691T=CA1321537287BMPR2c.419-28T= (n.419-28T=)
c.350-28T= (n.350-28T=)
2g.202513692G>TCA2662705364BMPR2c.419-27G>T (n.419-27G>T)
c.350-27G>T (n.350-27G>T)
 gnomAD v4
2g.202513693A>GCA2662705365BMPR2c.419-26A>G (n.419-26A>G)
c.350-26A>G (n.350-26A>G)
 gnomAD v4
2g.202513694C>ACA2662705366BMPR2c.419-25C>A (n.419-25C>A)
c.350-25C>A (n.350-25C>A)
 gnomAD v4
2g.202513694C>TCA2662705367BMPR2c.419-25C>T (n.419-25C>T)
c.350-25C>T (n.350-25C>T)
 gnomAD v4
2g.202513695A>GCA2662705368BMPR2c.419-24A>G (n.419-24A>G)
c.350-24A>G (n.350-24A>G)
 gnomAD v4
2g.202513697T>CCA2061123BMPR2c.419-22T>C (n.419-22T>C)
c.350-22T>C (n.350-22T>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513697T=CA1321537288BMPR2c.419-22T= (n.419-22T=)
c.350-22T= (n.350-22T=)
2g.202513699C>ACA2662705369BMPR2c.419-20C>A (n.419-20C>A)
c.350-20C>A (n.350-20C>A)
 gnomAD v4
2g.202513699C>GCA647681708BMPR2c.419-20C>G (n.419-20C>G)
c.350-20C>G (n.350-20C>G)
 gnomAD v4 COSMIC
2g.202513700A=CA1321537289BMPR2c.419-19A= (n.419-19A=)
c.350-19A= (n.350-19A=)
2g.202513700A>GCA64011945BMPR2c.419-19A>G (n.419-19A>G)
c.350-19A>G (n.350-19A>G)
 dbSNP gnomAD v2 gnomAD v4
2g.202513701A=CA1321537291BMPR2c.419-18A= (n.419-18A=)
c.350-18A= (n.350-18A=)
2g.202513701A>GCA1321537290BMPR2c.419-18A>G (n.419-18A>G)
c.350-18A>G (n.350-18A>G)
 dbSNP
2g.202513702A>TCA647681709BMPR2c.419-17A>T (n.419-17A>T)
c.350-17A>T (n.350-17A>T)
 COSMIC
2g.202513705T>CCA2740096415BMPR2c.419-14T>C (n.419-14T>C)
c.350-14T>C (n.350-14T>C)
 ClinVar
2g.202513705T>GCA2753905468BMPR2c.419-14T>G (n.419-14T>G)
c.350-14T>G (n.350-14T>G)
2g.202513706T>CCA1041339363BMPR2c.419-13T>C (n.419-13T>C)
c.350-13T>C (n.350-13T>C)
 dbSNP gnomAD v3 gnomAD v4
2g.202513706T=CA1321537292BMPR2c.419-13T= (n.419-13T=)
c.350-13T= (n.350-13T=)
2g.202513707G=CA1321537293BMPR2c.419-12G= (n.419-12G=)
c.350-12G= (n.350-12G=)
2g.202513707G>TCA2061124BMPR2c.419-12G>T (n.419-12G>T)
c.350-12G>T (n.350-12G>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513709T>CCA645293797BMPR2c.419-10T>C (n.419-10T>C)
c.350-10T>C (n.350-10T>C)
 ClinVar dbSNP
2g.202513709T=CA1321537294BMPR2c.419-10T= (n.419-10T=)
c.350-10T= (n.350-10T=)
2g.202513711T>ACA2662705370BMPR2c.419-8T>A (n.419-8T>A)
c.350-8T>A (n.350-8T>A)
 gnomAD v4
2g.202513712C>ACA2061125BMPR2c.419-7C>A (n.419-7C>A)
c.350-7C>A (n.350-7C>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513712C=CA1321537295BMPR2c.419-7C= (n.419-7C=)
c.350-7C= (n.350-7C=)
2g.202513712C>TCA1321537296BMPR2c.419-7C>T (n.419-7C>T)
c.350-7C>T (n.350-7C>T)
 dbSNP gnomAD v4
2g.202513713T>CCA2662705371BMPR2c.419-6T>C (n.419-6T>C)
c.350-6T>C (n.350-6T>C)
 gnomAD v4
2g.202513715T>CCA1321537298BMPR2c.419-4T>C (n.419-4T>C)
c.350-4T>C (n.350-4T>C)
 dbSNP gnomAD v4
2g.202513715T=CA1321537297BMPR2c.419-4T= (n.419-4T=)
c.350-4T= (n.350-4T=)
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

Number of alleles fetched