Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202514908_202514931delinsCACAGTATGAACATGATGGAGGCACA1321537850BMPR2c.550_573delinsCACAGTATGAACATGATGGAGGCA (p.His184=)
c.481_504delinsCACAGTATGAACATGATGGAGGCA (p.His161=)
2g.202514909_202514931delCA645293805BMPR2c.551_573del (p.His184ArgfsTer8)
c.482_504del (p.His161ArgfsTer8)
 ClinVar dbSNP
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)
2g.202514946C>ACA430838584BMPR2c.588C>A (p.Pro196=)
c.519C>A (p.Pro173=)
2g.202514946C>GCA430838585BMPR2c.588C>G (p.Pro196=)
c.519C>G (p.Pro173=)
2g.202514946C>TCA430838586BMPR2c.588C>T (p.Pro196=)
c.519C>T (p.Pro173=)
2g.202514947T>ACA350339024BMPR2c.589T>A (p.Ser197Thr)
c.520T>A (p.Ser174Thr)
2g.202514947T>CCA350339028BMPR2c.589T>C (p.Ser197Pro)
c.520T>C (p.Ser174Pro)
2g.202514947T>GCA350339031BMPR2c.589T>G (p.Ser197Ala)
c.520T>G (p.Ser174Ala)
2g.202514948C>ACA350339036BMPR2c.590C>A (p.Ser197Tyr)
c.521C>A (p.Ser174Tyr)
2g.202514948C=CA1321537864BMPR2c.590C= (p.Ser197=)
c.521C= (p.Ser174=)
2g.202514948C>GCA350339034BMPR2c.590C>G (p.Ser197Cys)
c.521C>G (p.Ser174Cys)
2g.202514948C>TCA350339033BMPR2c.590C>T (p.Ser197Phe)
c.521C>T (p.Ser174Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
2g.202514949T>ACA430838587BMPR2c.591T>A (p.Ser197=)
c.522T>A (p.Ser174=)
2g.202514949T>CCA430838588BMPR2c.591T>C (p.Ser197=)
c.522T>C (p.Ser174=)
2g.202514949T>GCA430838589BMPR2c.591T>G (p.Ser197=)
c.522T>G (p.Ser174=)
2g.202514950C>ACA350339039BMPR2c.592C>A (p.Leu198Ile)
c.523C>A (p.Leu175Ile)
2g.202514950C>GCA350339041BMPR2c.592C>G (p.Leu198Val)
c.523C>G (p.Leu175Val)
2g.202514950C>TCA350339043BMPR2c.592C>T (p.Leu198Phe)
c.523C>T (p.Leu175Phe)
 gnomAD v4
2g.202514951T>ACA350339045BMPR2c.593T>A (p.Leu198His)
c.524T>A (p.Leu175His)
2g.202514951T>CCA350339047BMPR2c.593T>C (p.Leu198Pro)
c.524T>C (p.Leu175Pro)
2g.202514951T>GCA350339051BMPR2c.593T>G (p.Leu198Arg)
c.524T>G (p.Leu175Arg)
2g.202514951_202514952delCA2586971006BMPR2c.593_594del (p.Leu198ArgfsTer4)
c.524_525del (p.Leu175ArgfsTer4)
2g.202514952T>ACA430838590BMPR2c.594T>A (p.Leu198=)
c.525T>A (p.Leu175=)
2g.202514952T>CCA430838591BMPR2c.594T>C (p.Leu198=)
c.525T>C (p.Leu175=)
2g.202514952T>GCA430838592BMPR2c.594T>G (p.Leu198=)
c.525T>G (p.Leu175=)
2g.202514953delCA2739278545BMPR2c.595del (p.Asp199IlefsTer2)
c.526del (p.Asp176IlefsTer2)
 ClinVar
2g.202514953G>ACA350339053BMPR2c.595G>A (p.Asp199Asn)
c.526G>A (p.Asp176Asn)
2g.202514953G>CCA64012868BMPR2c.595G>C (p.Asp199His)
c.526G>C (p.Asp176His)
 dbSNP gnomAD v4
2g.202514953G=CA1321537865BMPR2c.595G= (p.Asp199=)
c.526G= (p.Asp176=)
2g.202514953G>TCA350339056BMPR2c.595G>T (p.Asp199Tyr)
c.526G>T (p.Asp176Tyr)
2g.202514954A>CCA350339059BMPR2c.596A>C (p.Asp199Ala)
c.527A>C (p.Asp176Ala)
2g.202514954A>GCA350339062BMPR2c.596A>G (p.Asp199Gly)
c.527A>G (p.Asp176Gly)
2g.202514954A>TCA350339064BMPR2c.596A>T (p.Asp199Val)
c.527A>T (p.Asp176Val)
2g.202514955T>ACA350339068BMPR2c.597T>A (p.Asp199Glu)
c.528T>A (p.Asp176Glu)
2g.202514955T>CCA430838593BMPR2c.597T>C (p.Asp199=)
c.528T>C (p.Asp176=)
2g.202514955T>GCA350339069BMPR2c.597T>G (p.Asp199Glu)
c.528T>G (p.Asp176Glu)
2g.202514956C>ACA350339070BMPR2c.598C>A (p.Leu200Ile)
c.529C>A (p.Leu177Ile)
2g.202514956C=CA1321537866BMPR2c.598C= (p.Leu200=)
c.529C= (p.Leu177=)
2g.202514956C>GCA350339071BMPR2c.598C>G (p.Leu200Val)
c.529C>G (p.Leu177Val)
 dbSNP gnomAD v4
2g.202514956C>TCA430838595BMPR2c.598C>T (p.Leu200=)
c.529C>T (p.Leu177=)
2g.202514957T>ACA350339072BMPR2c.599T>A (p.Leu200Gln)
c.530T>A (p.Leu177Gln)
2g.202514957T>CCA350339073BMPR2c.599T>C (p.Leu200Pro)
c.530T>C (p.Leu177Pro)
2g.202514957T>GCA350339075BMPR2c.599T>G (p.Leu200Arg)
c.530T>G (p.Leu177Arg)
2g.202514958A=CA1321537867BMPR2c.600A= (p.Leu200=)
c.531A= (p.Leu177=)
2g.202514958A>CCA175327BMPR2c.600A>C (p.Leu200=)
c.531A>C (p.Leu177=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514958A>GCA430838596BMPR2c.600A>G (p.Leu200=)
c.531A>G (p.Leu177=)
2g.202514958A>TCA430838597BMPR2c.600A>T (p.Leu200=)
c.531A>T (p.Leu177=)
 gnomAD v4
2g.202514959G>ACA350339081BMPR2c.601G>A (p.Asp201Asn)
c.532G>A (p.Asp178Asn)
2g.202514959G>CCA350339077BMPR2c.601G>C (p.Asp201His)
c.532G>C (p.Asp178His)
2g.202514959G=CA1321537868BMPR2c.601G= (p.Asp201=)
c.532G= (p.Asp178=)
2g.202514959G>TCA350339079BMPR2c.601G>T (p.Asp201Tyr)
c.532G>T (p.Asp178Tyr)
 dbSNP gnomAD v2 gnomAD v4
2g.202514960A>CCA350339085BMPR2c.602A>C (p.Asp201Ala)
c.533A>C (p.Asp178Ala)
2g.202514960A>GCA350339088BMPR2c.602A>G (p.Asp201Gly)
c.533A>G (p.Asp178Gly)
2g.202514960A>TCA350339090BMPR2c.602A>T (p.Asp201Val)
c.533A>T (p.Asp178Val)
 gnomAD v4
2g.202514961T>ACA350339092BMPR2c.603T>A (p.Asp201Glu)
c.534T>A (p.Asp178Glu)
2g.202514961T>CCA430838598BMPR2c.603T>C (p.Asp201=)
c.534T>C (p.Asp178=)
2g.202514961T>GCA350339095BMPR2c.603T>G (p.Asp201Glu)
c.534T>G (p.Asp178Glu)
2g.202514962A=CA1321537869BMPR2c.604A= (p.Asn202=)
c.535A= (p.Asn179=)
2g.202514962A>CCA350339098BMPR2c.604A>C (p.Asn202His)
c.535A>C (p.Asn179His)
2g.202514962A>GCA350339102BMPR2c.604A>G (p.Asn202Asp)
c.535A>G (p.Asn179Asp)
2g.202514962A>TCA130275BMPR2c.604A>T (p.Asn202Tyr)
c.535A>T (p.Asn179Tyr)
 ClinVar dbSNP
2g.202514963A>CCA350339106BMPR2c.605A>C (p.Asn202Thr)
c.536A>C (p.Asn179Thr)
2g.202514963A>GCA350339110BMPR2c.605A>G (p.Asn202Ser)
c.536A>G (p.Asn179Ser)
2g.202514963A>TCA350339112BMPR2c.605A>T (p.Asn202Ile)
c.536A>T (p.Asn179Ile)
2g.202514964T>ACA350339115BMPR2c.606T>A (p.Asn202Lys)
c.537T>A (p.Asn179Lys)
2g.202514964T>CCA430838601BMPR2c.606T>C (p.Asn202=)
c.537T>C (p.Asn179=)
2g.202514964T>GCA350339117BMPR2c.606T>G (p.Asn202Lys)
c.537T>G (p.Asn179Lys)
2g.202514965C>ACA350339120BMPR2c.607C>A (p.Leu203Met)
c.538C>A (p.Leu180Met)
 gnomAD v4
2g.202514965C>GCA350339123BMPR2c.607C>G (p.Leu203Val)
c.538C>G (p.Leu180Val)
 COSMIC
2g.202514965C>TCA430838602BMPR2c.607C>T (p.Leu203=)
c.538C>T (p.Leu180=)
2g.202514965_202514967delinsCTGCA1321537870BMPR2c.607_609delinsCTG (p.Leu203=)
c.538_540delinsCTG (p.Leu180=)
2g.202514966T>ACA350339125BMPR2c.608T>A (p.Leu203Gln)
c.539T>A (p.Leu180Gln)
2g.202514966T>CCA350339126BMPR2c.608T>C (p.Leu203Pro)
c.539T>C (p.Leu180Pro)
2g.202514966T>GCA350339129BMPR2c.608T>G (p.Leu203Arg)
c.539T>G (p.Leu180Arg)
2g.202514966_202514967delCA645293806BMPR2c.608_609del (p.Leu203GlnfsTer16)
c.539_540del (p.Leu180GlnfsTer16)
 ClinVar dbSNP
2g.202514967G>ACA430838603BMPR2c.609G>A (p.Leu203=)
c.540G>A (p.Leu180=)
2g.202514967G>CCA430838605BMPR2c.609G>C (p.Leu203=)
c.540G>C (p.Leu180=)
2g.202514967G>TCA430838604BMPR2c.609G>T (p.Leu203=)
c.540G>T (p.Leu180=)
2g.202514967_202514968delinsGACA1321537871BMPR2c.609_610delinsGA (p.Leu203=)
c.540_541delinsGA (p.Leu180=)
2g.202514968A>CCA350339136BMPR2c.610A>C (p.Lys204Gln)
c.541A>C (p.Lys181Gln)
 gnomAD v4
2g.202514968A>GCA350339135BMPR2c.610A>G (p.Lys204Glu)
c.541A>G (p.Lys181Glu)
2g.202514968A>TCA350339133BMPR2c.610A>T (p.Lys204Ter)
c.541A>T (p.Lys181Ter)
 ClinVar dbSNP
2g.202514970delCA645293807BMPR2c.612del (p.Lys204AsnfsTer5)
c.543del (p.Lys181AsnfsTer5)
 ClinVar dbSNP
2g.202514969A>CCA350339141BMPR2c.611A>C (p.Lys204Thr)
c.542A>C (p.Lys181Thr)
2g.202514969A>GCA350339145BMPR2c.611A>G (p.Lys204Arg)
c.542A>G (p.Lys181Arg)
2g.202514969A>TCA350339143BMPR2c.611A>T (p.Lys204Ile)
c.542A>T (p.Lys181Ile)
2g.202514970A>CCA350339147BMPR2c.612A>C (p.Lys204Asn)
c.543A>C (p.Lys181Asn)
2g.202514970A>GCA430838606BMPR2c.612A>G (p.Lys204=)
c.543A>G (p.Lys181=)
2g.202514970A>TCA350339149BMPR2c.612A>T (p.Lys204Asn)
c.543A>T (p.Lys181Asn)
2g.202514971C>ACA350339153BMPR2c.613C>A (p.Leu205Met)
c.544C>A (p.Leu182Met)
2g.202514971C>GCA350339154BMPR2c.613C>G (p.Leu205Val)
c.544C>G (p.Leu182Val)
2g.202514971C>TCA430838607BMPR2c.613C>T (p.Leu205=)
c.544C>T (p.Leu182=)
2g.202514972T>ACA350339158BMPR2c.614T>A (p.Leu205Gln)
c.545T>A (p.Leu182Gln)
2g.202514972T>CCA350339159BMPR2c.614T>C (p.Leu205Pro)
c.545T>C (p.Leu182Pro)
 dbSNP gnomAD v2 gnomAD v4
2g.202514972T>GCA350339162BMPR2c.614T>G (p.Leu205Arg)
c.545T>G (p.Leu182Arg)
2g.202514972T=CA1321537872BMPR2c.614T= (p.Leu205=)
c.545T= (p.Leu182=)
2g.202514973G>ACA430838609BMPR2c.615G>A (p.Leu205=)
c.546G>A (p.Leu182=)
 dbSNP gnomAD v4
2g.202514973G>CCA430838610BMPR2c.615G>C (p.Leu205=)
c.546G>C (p.Leu182=)
 ClinVar dbSNP gnomAD v4
2g.202514973G=CA1321537873BMPR2c.615G= (p.Leu205=)
c.546G= (p.Leu182=)
2g.202514973G>TCA64012892BMPR2c.615G>T (p.Leu205=)
c.546G>T (p.Leu182=)
 ClinVar dbSNP gnomAD v4
2g.202514974T>ACA350339164BMPR2c.616T>A (p.Leu206Met)
c.547T>A (p.Leu183Met)
2g.202514974T>CCA430838611BMPR2c.616T>C (p.Leu206=)
c.547T>C (p.Leu183=)
2g.202514974T>GCA350339166BMPR2c.616T>G (p.Leu206Val)
c.547T>G (p.Leu183Val)
2g.202514975T>ACA350339167BMPR2c.617T>A (p.Leu206Ter)
c.548T>A (p.Leu183Ter)
 ClinVar dbSNP
2g.202514975T>CCA350339168BMPR2c.617T>C (p.Leu206Ser)
c.548T>C (p.Leu183Ser)
2g.202514975T>GCA350339170BMPR2c.617T>G (p.Leu206Trp)
c.548T>G (p.Leu183Trp)
2g.202514975T=CA1321537874BMPR2c.617T= (p.Leu206=)
c.548T= (p.Leu183=)
2g.202514976G>ACA430838612BMPR2c.618G>A (p.Leu206=)
c.549G>A (p.Leu183=)
2g.202514976G>CCA350339173BMPR2c.618G>C (p.Leu206Phe)
c.549G>C (p.Leu183Phe)
2g.202514976G>TCA350339175BMPR2c.618G>T (p.Leu206Phe)
c.549G>T (p.Leu183Phe)
2g.202514977dupCA915941640BMPR2c.619dup (p.Glu207GlyfsTer13)
c.550dup (p.Glu184GlyfsTer13)
 ClinVar dbSNP
2g.202514977G>ACA2061155BMPR2c.619G>A (p.Glu207Lys)
c.550G>A (p.Glu184Lys)
 dbSNP ExAC gnomAD v2
2g.202514977G>CCA350339181BMPR2c.619G>C (p.Glu207Gln)
c.550G>C (p.Glu184Gln)
2g.202514977G=CA1321537875BMPR2c.619G= (p.Glu207=)
c.550G= (p.Glu184=)
2g.202514977G>TCA350339183BMPR2c.619G>T (p.Glu207Ter)
c.550G>T (p.Glu184Ter)
2g.202514978A=CA1321537876BMPR2c.620A= (p.Glu207=)
c.551A= (p.Glu184=)
2g.202514978A>CCA350339187BMPR2c.620A>C (p.Glu207Ala)
c.551A>C (p.Glu184Ala)
2g.202514978A>GCA64012893BMPR2c.620A>G (p.Glu207Gly)
c.551A>G (p.Glu184Gly)
 dbSNP
2g.202514978A>TCA350339191BMPR2c.620A>T (p.Glu207Val)
c.551A>T (p.Glu184Val)
2g.202514979G>ACA430838613BMPR2c.621G>A (p.Glu207=)
c.552G>A (p.Glu184=)
 dbSNP gnomAD v2 gnomAD v4
2g.202514979G>CCA350339193BMPR2c.621G>C (p.Glu207Asp)
c.552G>C (p.Glu184Asp)
2g.202514979G=CA1321537877BMPR2c.621G= (p.Glu207=)
c.552G= (p.Glu184=)
2g.202514979G>TCA350339195BMPR2c.621G>T (p.Glu207Asp)
c.552G>T (p.Glu184Asp)
2g.202514980G>ACA350339197BMPR2c.621+1G>A (n.621+1G>A)
c.552+1G>A (n.552+1G>A)
 ClinVar dbSNP
2g.202514980G>CCA350339199BMPR2c.621+1G>C (n.621+1G>C)
c.552+1G>C (n.552+1G>C)
 ClinVar dbSNP
2g.202514980G=CA1321537878BMPR2c.621+1G= (n.621+1G=)
c.552+1G= (n.552+1G=)
2g.202514980G>TCA350339202BMPR2c.621+1G>T (n.621+1G>T)
c.552+1G>T (n.552+1G>T)
 ClinVar dbSNP
2g.202514981T>ACA350339208BMPR2c.621+2T>A (n.621+2T>A)
c.552+2T>A (n.552+2T>A)
2g.202514981T>CCA350339209BMPR2c.621+2T>C (n.621+2T>C)
c.552+2T>C (n.552+2T>C)
2g.202514981T>GCA350339207BMPR2c.621+2T>G (n.621+2T>G)
c.552+2T>G (n.552+2T>G)
2g.202514982A=CA1321537879BMPR2c.621+3A= (n.621+3A=)
c.552+3A= (n.552+3A=)
2g.202514982A>GCA2061156BMPR2c.621+3A>G (n.621+3A>G)
c.552+3A>G (n.552+3A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514983A=CA1321537880BMPR2c.621+4A= (n.621+4A=)
c.552+4A= (n.552+4A=)
2g.202514983A>CCA2061157BMPR2c.621+4A>C (n.621+4A>C)
c.552+4A>C (n.552+4A>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514984G>ACA1041339694BMPR2c.621+5G>A (n.621+5G>A)
c.552+5G>A (n.552+5G>A)
 dbSNP gnomAD v3 gnomAD v4
2g.202514984G=CA1321537881BMPR2c.621+5G= (n.621+5G=)
c.552+5G= (n.552+5G=)
2g.202514987delCA2662705506BMPR2c.621+8del (n.621+8del)
c.552+8del (n.552+8del)
 gnomAD v4
2g.202514986T>GCA2662705507BMPR2c.621+7T>G (n.621+7T>G)
c.552+7T>G (n.552+7T>G)
 gnomAD v4
2g.202514987T>CCA2061158BMPR2c.621+8T>C (n.621+8T>C)
c.552+8T>C (n.552+8T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514987T=CA1321537882BMPR2c.621+8T= (n.621+8T=)
c.552+8T= (n.552+8T=)
2g.202514989C>ACA2701465485BMPR2c.621+10C>A (n.621+10C>A)
c.552+10C>A (n.552+10C>A)
 dbSNP
2g.202514990C>ACA2662705508BMPR2c.621+11C>A (n.621+11C>A)
c.552+11C>A (n.552+11C>A)
 gnomAD v4
2g.202514990C=CA1321537883BMPR2c.621+11C= (n.621+11C=)
c.552+11C= (n.552+11C=)
2g.202514990C>GCA2662705509BMPR2c.621+11C>G (n.621+11C>G)
c.552+11C>G (n.552+11C>G)
 gnomAD v4
2g.202514990C>TCA2061159BMPR2c.621+11C>T (n.621+11C>T)
c.552+11C>T (n.552+11C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514991G>ACA2061160BMPR2c.621+12G>A (n.621+12G>A)
c.552+12G>A (n.552+12G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514991G>CCA2662705510BMPR2c.621+12G>C (n.621+12G>C)
c.552+12G>C (n.552+12G>C)
 gnomAD v4
2g.202514991G=CA1321537884BMPR2c.621+12G= (n.621+12G=)
c.552+12G= (n.552+12G=)
2g.202514991G>TCA2662705511BMPR2c.621+12G>T (n.621+12G>T)
c.552+12G>T (n.552+12G>T)
 gnomAD v4
2g.202514994A=CA1321537885BMPR2c.621+15A= (n.621+15A=)
c.552+15A= (n.552+15A=)
2g.202514994A>GCA2061161BMPR2c.621+15A>G (n.621+15A>G)
c.552+15A>G (n.552+15A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202514996A>CCA2662705512BMPR2c.621+17A>C (n.621+17A>C)
c.552+17A>C (n.552+17A>C)
 gnomAD v4
2g.202514996A>GCA2662705513BMPR2c.621+17A>G (n.621+17A>G)
c.552+17A>G (n.552+17A>G)
 gnomAD v4
2g.202514998delCA2577215572BMPR2c.621+19del (n.621+19del)
c.552+19del (n.552+19del)
2g.202514998T>CCA2753905538BMPR2c.621+19T>C (n.621+19T>C)
c.552+19T>C (n.552+19T>C)
2g.202514998T>GCA2577215573BMPR2c.621+19T>G (n.621+19T>G)
c.552+19T>G (n.552+19T>G)
2g.202514999A=CA1321537886BMPR2c.621+20A= (n.621+20A=)
c.552+20A= (n.552+20A=)
2g.202514999A>GCA2061162BMPR2c.621+20A>G (n.621+20A>G)
c.552+20A>G (n.552+20A>G)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202515001G>ACA538970713BMPR2c.621+22G>A (n.621+22G>A)
c.552+22G>A (n.552+22G>A)
 dbSNP gnomAD v2 gnomAD v4
2g.202515001G=CA1321537887BMPR2c.621+22G= (n.621+22G=)
c.552+22G= (n.552+22G=)
2g.202515002G>ACA64012964BMPR2c.621+23G>A (n.621+23G>A)
c.552+23G>A (n.552+23G>A)
 dbSNP
2g.202515002G=CA1321537888BMPR2c.621+23G= (n.621+23G=)
c.552+23G= (n.552+23G=)
2g.202515003A=CA1321537889BMPR2c.621+24A= (n.621+24A=)
c.552+24A= (n.552+24A=)
2g.202515003A>GCA763423939BMPR2c.621+24A>G (n.621+24A>G)
c.552+24A>G (n.552+24A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.202515004C>ACA2662705514BMPR2c.621+25C>A (n.621+25C>A)
c.552+25C>A (n.552+25C>A)
 gnomAD v4
2g.202515004C=CA1321537891BMPR2c.621+25C= (n.621+25C=)
c.552+25C= (n.552+25C=)
2g.202515004C>TCA538970715BMPR2c.621+25C>T (n.621+25C>T)
c.552+25C>T (n.552+25C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.202515004_202515007delinsCTGTCA1321537890BMPR2c.621+25_621+28delinsCTGT (n.621+25_621+28delinsCTGT)
c.552+25_552+28delinsCTGT (n.552+25_552+28delinsCTGT)
2g.202515009_202515011delCA2061163BMPR2c.621+30_621+32del (n.621+30_621+32del)
c.552+30_552+32del (n.552+30_552+32del)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202515006G>ACA2061164BMPR2c.621+27G>A (n.621+27G>A)
c.552+27G>A (n.552+27G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202515006G>CCA2753905539BMPR2c.621+27G>C (n.621+27G>C)
c.552+27G>C (n.552+27G>C)
2g.202515006G=CA1321537892BMPR2c.621+27G= (n.621+27G=)
c.552+27G= (n.552+27G=)
2g.202515006G>TCA2662705515BMPR2c.621+27G>T (n.621+27G>T)
c.552+27G>T (n.552+27G>T)
 gnomAD v4
2g.202515009G>ACA2662705516BMPR2c.621+30G>A (n.621+30G>A)
c.552+30G>A (n.552+30G>A)
 gnomAD v4
2g.202515010T>ACA2662705517BMPR2c.621+31T>A (n.621+31T>A)
c.552+31T>A (n.552+31T>A)
 gnomAD v4
2g.202515010T>CCA2662705518BMPR2c.621+31T>C (n.621+31T>C)
c.552+31T>C (n.552+31T>C)
 gnomAD v4
2g.202515012delCA2577215574BMPR2c.621+33del (n.621+33del)
c.552+33del (n.552+33del)

Number of alleles fetched