Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
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)
2g.202518901T>ACA350340306BMPR2c.701T>A (p.Phe234Tyr)
c.632T>A (p.Phe211Tyr)
2g.202518901T>CCA350340308BMPR2c.701T>C (p.Phe234Ser)
c.632T>C (p.Phe211Ser)
2g.202518901T>GCA350340310BMPR2c.701T>G (p.Phe234Cys)
c.632T>G (p.Phe211Cys)
2g.202518902T>ACA350340311BMPR2c.702T>A (p.Phe234Leu)
c.633T>A (p.Phe211Leu)
2g.202518902T>CCA2061190BMPR2c.702T>C (p.Phe234=)
c.633T>C (p.Phe211=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518902T>GCA350340315BMPR2c.702T>G (p.Phe234Leu)
c.633T>G (p.Phe211Leu)
2g.202518902T=CA1321539687BMPR2c.702T= (p.Phe234=)
c.633T= (p.Phe211=)
2g.202518903G>ACA350340316BMPR2c.703G>A (p.Ala235Thr)
c.634G>A (p.Ala212Thr)
 gnomAD v4
2g.202518903G>CCA350340318BMPR2c.703G>C (p.Ala235Pro)
c.634G>C (p.Ala212Pro)
2g.202518903G>TCA350340320BMPR2c.703G>T (p.Ala235Ser)
c.634G>T (p.Ala212Ser)
2g.202518904C>ACA350340323BMPR2c.704C>A (p.Ala235Glu)
c.635C>A (p.Ala212Glu)
2g.202518904C>GCA350340322BMPR2c.704C>G (p.Ala235Gly)
c.635C>G (p.Ala212Gly)
2g.202518904C>TCA350340321BMPR2c.704C>T (p.Ala235Val)
c.635C>T (p.Ala212Val)
 gnomAD v4
2g.202518905A>CCA430839026BMPR2c.705A>C (p.Ala235=)
c.636A>C (p.Ala212=)
2g.202518905A>GCA430839029BMPR2c.705A>G (p.Ala235=)
c.636A>G (p.Ala212=)
 gnomAD v4
2g.202518905A>TCA430839031BMPR2c.705A>T (p.Ala235=)
c.636A>T (p.Ala212=)
2g.202518907delCA2586971011BMPR2c.707del (p.Asn236ThrfsTer16)
c.638del (p.Asn213ThrfsTer16)
2g.202518906A>CCA350340324BMPR2c.706A>C (p.Asn236His)
c.637A>C (p.Asn213His)
2g.202518906A>GCA350340326BMPR2c.706A>G (p.Asn236Asp)
c.637A>G (p.Asn213Asp)
2g.202518906A>TCA350340325BMPR2c.706A>T (p.Asn236Tyr)
c.637A>T (p.Asn213Tyr)
2g.202518907A>CCA350340327BMPR2c.707A>C (p.Asn236Thr)
c.638A>C (p.Asn213Thr)
2g.202518907A>GCA350340328BMPR2c.707A>G (p.Asn236Ser)
c.638A>G (p.Asn213Ser)
2g.202518907A>TCA350340329BMPR2c.707A>T (p.Asn236Ile)
c.638A>T (p.Asn213Ile)
2g.202518908C>ACA350340330BMPR2c.708C>A (p.Asn236Lys)
c.639C>A (p.Asn213Lys)
2g.202518908C=CA1321539688BMPR2c.708C= (p.Asn236=)
c.639C= (p.Asn213=)
2g.202518908C>GCA350340331BMPR2c.708C>G (p.Asn236Lys)
c.639C>G (p.Asn213Lys)
2g.202518908C>TCA10613905BMPR2c.708C>T (p.Asn236=)
c.639C>T (p.Asn213=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518909C>ACA350340332BMPR2c.709C>A (p.Arg237Ser)
c.640C>A (p.Arg214Ser)
2g.202518909C=CA1321539689BMPR2c.709C= (p.Arg237=)
c.640C= (p.Arg214=)
2g.202518909C>GCA350340333BMPR2c.709C>G (p.Arg237Gly)
c.640C>G (p.Arg214Gly)
2g.202518909C>TCA2061191BMPR2c.709C>T (p.Arg237Cys)
c.640C>T (p.Arg214Cys)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518910G>ACA2061192BMPR2c.710G>A (p.Arg237His)
c.641G>A (p.Arg214His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518910G>CCA350340334BMPR2c.710G>C (p.Arg237Pro)
c.641G>C (p.Arg214Pro)
 dbSNP
2g.202518910G=CA1321539690BMPR2c.710G= (p.Arg237=)
c.641G= (p.Arg214=)
2g.202518910G>TCA350340335BMPR2c.710G>T (p.Arg237Leu)
c.641G>T (p.Arg214Leu)
 dbSNP
2g.202518911T>ACA430839064BMPR2c.711T>A (p.Arg237=)
c.642T>A (p.Arg214=)
2g.202518911T>CCA2061193BMPR2c.711T>C (p.Arg237=)
c.642T>C (p.Arg214=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518911T>GCA430839070BMPR2c.711T>G (p.Arg237=)
c.642T>G (p.Arg214=)
2g.202518911T=CA1321539691BMPR2c.711T= (p.Arg237=)
c.642T= (p.Arg214=)
2g.202518912C>ACA350340336BMPR2c.712C>A (p.Gln238Lys)
c.643C>A (p.Gln215Lys)
2g.202518912C=CA1321539692BMPR2c.712C= (p.Gln238=)
c.643C= (p.Gln215=)
2g.202518912C>GCA350340337BMPR2c.712C>G (p.Gln238Glu)
c.643C>G (p.Gln215Glu)
2g.202518912C>TCA350340338BMPR2c.712C>T (p.Gln238Ter)
c.643C>T (p.Gln215Ter)
 ClinVar dbSNP
2g.202518913A>CCA350340339BMPR2c.713A>C (p.Gln238Pro)
c.644A>C (p.Gln215Pro)
2g.202518913A>GCA350340340BMPR2c.713A>G (p.Gln238Arg)
c.644A>G (p.Gln215Arg)
2g.202518913A>TCA350340341BMPR2c.713A>T (p.Gln238Leu)
c.644A>T (p.Gln215Leu)
2g.202518914_202518915delCA2586971013BMPR2c.714_715del (p.Asn239PhefsTer16)
c.645_646del (p.Asn216PhefsTer16)
2g.202518914G>ACA430839082BMPR2c.714G>A (p.Gln238=)
c.645G>A (p.Gln215=)
 COSMIC
2g.202518914G>CCA350340342BMPR2c.714G>C (p.Gln238His)
c.645G>C (p.Gln215His)
2g.202518914G>TCA350340343BMPR2c.714G>T (p.Gln238His)
c.645G>T (p.Gln215His)
2g.202518915A>CCA350340344BMPR2c.715A>C (p.Asn239His)
c.646A>C (p.Asn216His)
2g.202518915A>GCA350340345BMPR2c.715A>G (p.Asn239Asp)
c.646A>G (p.Asn216Asp)
2g.202518915A>TCA350340346BMPR2c.715A>T (p.Asn239Tyr)
c.646A>T (p.Asn216Tyr)
2g.202518916A>CCA350340347BMPR2c.716A>C (p.Asn239Thr)
c.647A>C (p.Asn216Thr)
2g.202518916A>GCA350340348BMPR2c.716A>G (p.Asn239Ser)
c.647A>G (p.Asn216Ser)
2g.202518916A>TCA350340349BMPR2c.716A>T (p.Asn239Ile)
c.647A>T (p.Asn216Ile)
2g.202518917T>ACA350340351BMPR2c.717T>A (p.Asn239Lys)
c.648T>A (p.Asn216Lys)
2g.202518917T>CCA430839476BMPR2c.717T>C (p.Asn239=)
c.648T>C (p.Asn216=)
 gnomAD v4
2g.202518917T>GCA350340350BMPR2c.717T>G (p.Asn239Lys)
c.648T>G (p.Asn216Lys)
2g.202518918T>ACA350340352BMPR2c.718T>A (p.Phe240Ile)
c.649T>A (p.Phe217Ile)
2g.202518918T>CCA350340354BMPR2c.718T>C (p.Phe240Leu)
c.649T>C (p.Phe217Leu)
2g.202518918T>GCA350340353BMPR2c.718T>G (p.Phe240Val)
c.649T>G (p.Phe217Val)
2g.202518919T>ACA350340355BMPR2c.719T>A (p.Phe240Tyr)
c.650T>A (p.Phe217Tyr)
2g.202518919T>CCA350340356BMPR2c.719T>C (p.Phe240Ser)
c.650T>C (p.Phe217Ser)
2g.202518919T>GCA350340357BMPR2c.719T>G (p.Phe240Cys)
c.650T>G (p.Phe217Cys)
 gnomAD v4
2g.202518920T>ACA350340358BMPR2c.720T>A (p.Phe240Leu)
c.651T>A (p.Phe217Leu)
2g.202518920T>CCA430839485BMPR2c.720T>C (p.Phe240=)
c.651T>C (p.Phe217=)
 dbSNP gnomAD v4
2g.202518920T>GCA350340359BMPR2c.720T>G (p.Phe240Leu)
c.651T>G (p.Phe217Leu)
2g.202518920T=CA1321539693BMPR2c.720T= (p.Phe240=)
c.651T= (p.Phe217=)
2g.202518921A>CCA350340360BMPR2c.721A>C (p.Ile241Leu)
c.652A>C (p.Ile218Leu)
2g.202518921A>GCA350340361BMPR2c.721A>G (p.Ile241Val)
c.652A>G (p.Ile218Val)
2g.202518921A>TCA350340362BMPR2c.721A>T (p.Ile241Phe)
c.652A>T (p.Ile218Phe)
2g.202518922T>ACA350340363BMPR2c.722T>A (p.Ile241Asn)
c.653T>A (p.Ile218Asn)
2g.202518922T>CCA350340365BMPR2c.722T>C (p.Ile241Thr)
c.653T>C (p.Ile218Thr)
2g.202518922T>GCA350340364BMPR2c.722T>G (p.Ile241Ser)
c.653T>G (p.Ile218Ser)
2g.202518923C>ACA430839498BMPR2c.723C>A (p.Ile241=)
c.654C>A (p.Ile218=)
2g.202518923C>GCA350340366BMPR2c.723C>G (p.Ile241Met)
c.654C>G (p.Ile218Met)
2g.202518923C>TCA430839502BMPR2c.723C>T (p.Ile241=)
c.654C>T (p.Ile218=)
2g.202518924A>CCA350340367BMPR2c.724A>C (p.Asn242His)
c.655A>C (p.Asn219His)
2g.202518924A>GCA350340368BMPR2c.724A>G (p.Asn242Asp)
c.655A>G (p.Asn219Asp)
2g.202518924A>TCA350340369BMPR2c.724A>T (p.Asn242Tyr)
c.655A>T (p.Asn219Tyr)
2g.202518925A=CA1321539694BMPR2c.725A= (p.Asn242=)
c.656A= (p.Asn219=)
2g.202518925A>CCA350340370BMPR2c.725A>C (p.Asn242Thr)
c.656A>C (p.Asn219Thr)
2g.202518925A>GCA2061194BMPR2c.725A>G (p.Asn242Ser)
c.656A>G (p.Asn219Ser)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518925A>TCA350340371BMPR2c.725A>T (p.Asn242Ile)
c.656A>T (p.Asn219Ile)
2g.202518926C>ACA350340372BMPR2c.726C>A (p.Asn242Lys)
c.657C>A (p.Asn219Lys)
2g.202518926C=CA1321539695BMPR2c.726C= (p.Asn242=)
c.657C= (p.Asn219=)
2g.202518926C>GCA350340373BMPR2c.726C>G (p.Asn242Lys)
c.657C>G (p.Asn219Lys)
2g.202518926C>TCA2061195BMPR2c.726C>T (p.Asn242=)
c.657C>T (p.Asn219=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202518927G>ACA350340374BMPR2c.727G>A (p.Glu243Lys)
c.658G>A (p.Glu220Lys)
 ClinVar dbSNP gnomAD v4
2g.202518927G>CCA350340375BMPR2c.727G>C (p.Glu243Gln)
c.658G>C (p.Glu220Gln)
 ClinVar dbSNP
2g.202518927G=CA1321539696BMPR2c.727G= (p.Glu243=)
c.658G= (p.Glu220=)
2g.202518927G>TCA350340376BMPR2c.727G>T (p.Glu243Ter)
c.658G>T (p.Glu220Ter)
 ClinVar dbSNP
2g.202518928A>CCA350340377BMPR2c.728A>C (p.Glu243Ala)
c.659A>C (p.Glu220Ala)
2g.202518928A>GCA350340378BMPR2c.728A>G (p.Glu243Gly)
c.659A>G (p.Glu220Gly)
2g.202518928A>TCA350340379BMPR2c.728A>T (p.Glu243Val)
c.659A>T (p.Glu220Val)
2g.202518931delCA2586965530BMPR2c.731del (p.Lys244ArgfsTer8)
c.662del (p.Lys221ArgfsTer8)
2g.202518929A>CCA350340380BMPR2c.729A>C (p.Glu243Asp)
c.660A>C (p.Glu220Asp)
2g.202518929A>GCA430839526BMPR2c.729A>G (p.Glu243=)
c.660A>G (p.Glu220=)
2g.202518929A>TCA350340381BMPR2c.729A>T (p.Glu243Asp)
c.660A>T (p.Glu220Asp)
2g.202518930A>CCA350340382BMPR2c.730A>C (p.Lys244Gln)
c.661A>C (p.Lys221Gln)
2g.202518930A>GCA350340384BMPR2c.730A>G (p.Lys244Glu)
c.661A>G (p.Lys221Glu)
2g.202518930A>TCA350340383BMPR2c.730A>T (p.Lys244Ter)
c.661A>T (p.Lys221Ter)
2g.202518931A>CCA350340385BMPR2c.731A>C (p.Lys244Thr)
c.662A>C (p.Lys221Thr)
2g.202518931A>GCA350340386BMPR2c.731A>G (p.Lys244Arg)
c.662A>G (p.Lys221Arg)
2g.202518931A>TCA350340387BMPR2c.731A>T (p.Lys244Met)
c.662A>T (p.Lys221Met)
2g.202518932G>ACA2061196BMPR2c.732G>A (p.Lys244=)
c.663G>A (p.Lys221=)
 dbSNP ExAC
2g.202518932G>CCA350340388BMPR2c.732G>C (p.Lys244Asn)
c.663G>C (p.Lys221Asn)
2g.202518932G=CA1321539697BMPR2c.732G= (p.Lys244=)
c.663G= (p.Lys221=)
2g.202518932G>TCA350340389BMPR2c.732G>T (p.Lys244Asn)
c.663G>T (p.Lys221Asn)
2g.202518933A>CCA350340390BMPR2c.733A>C (p.Asn245His)
c.664A>C (p.Asn222His)
2g.202518933A>GCA350340391BMPR2c.733A>G (p.Asn245Asp)
c.664A>G (p.Asn222Asp)
2g.202518933A>TCA350340392BMPR2c.733A>T (p.Asn245Tyr)
c.664A>T (p.Asn222Tyr)
2g.202518934A>CCA350340393BMPR2c.734A>C (p.Asn245Thr)
c.665A>C (p.Asn222Thr)
2g.202518934A>GCA350340394BMPR2c.734A>G (p.Asn245Ser)
c.665A>G (p.Asn222Ser)
2g.202518934A>TCA350340395BMPR2c.734A>T (p.Asn245Ile)
c.665A>T (p.Asn222Ile)
2g.202518935C>ACA350340397BMPR2c.735C>A (p.Asn245Lys)
c.666C>A (p.Asn222Lys)
 dbSNP
2g.202518935C=CA1321539698BMPR2c.735C= (p.Asn245=)
c.666C= (p.Asn222=)
2g.202518935C>GCA350340396BMPR2c.735C>G (p.Asn245Lys)
c.666C>G (p.Asn222Lys)
2g.202518935C>TCA430839551BMPR2c.735C>T (p.Asn245=)
c.666C>T (p.Asn222=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518936A>CCA350340398BMPR2c.736A>C (p.Ile246Leu)
c.667A>C (p.Ile223Leu)
2g.202518936A>GCA350340399BMPR2c.736A>G (p.Ile246Val)
c.667A>G (p.Ile223Val)
2g.202518936A>TCA350340400BMPR2c.736A>T (p.Ile246Phe)
c.667A>T (p.Ile223Phe)
2g.202518936_202518937insATCAAACA430839557BMPR2c.736_737insATCAAA (p.Asn245_Ile246insAsnGln)
c.667_668insATCAAA (p.Asn222_Ile223insAsnGln)
2g.202518937T>ACA64015784BMPR2c.737T>A (p.Ile246Asn)
c.668T>A (p.Ile223Asn)
 dbSNP gnomAD v2 gnomAD v4
2g.202518937T>CCA2061197BMPR2c.737T>C (p.Ile246Thr)
c.668T>C (p.Ile223Thr)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518937T>GCA350340401BMPR2c.737T>G (p.Ile246Ser)
c.668T>G (p.Ile223Ser)
2g.202518937T=CA1321539699BMPR2c.737T= (p.Ile246=)
c.668T= (p.Ile223=)
2g.202518939delCA2662705631BMPR2c.739del (p.Tyr247ThrfsTer5)
c.670del (p.Tyr224ThrfsTer5)
 gnomAD v4
2g.202518938T>ACA430839564BMPR2c.738T>A (p.Ile246=)
c.669T>A (p.Ile223=)
2g.202518938T>CCA430839566BMPR2c.738T>C (p.Ile246=)
c.669T>C (p.Ile223=)
2g.202518938T>GCA350340402BMPR2c.738T>G (p.Ile246Met)
c.669T>G (p.Ile223Met)
2g.202518939T>ACA350340403BMPR2c.739T>A (p.Tyr247Asn)
c.670T>A (p.Tyr224Asn)
2g.202518939T>CCA350340404BMPR2c.739T>C (p.Tyr247His)
c.670T>C (p.Tyr224His)
2g.202518939T>GCA350340405BMPR2c.739T>G (p.Tyr247Asp)
c.670T>G (p.Tyr224Asp)
2g.202518940A>CCA350340406BMPR2c.740A>C (p.Tyr247Ser)
c.671A>C (p.Tyr224Ser)
2g.202518940A>GCA350340407BMPR2c.740A>G (p.Tyr247Cys)
c.671A>G (p.Tyr224Cys)
2g.202518940A>TCA350340408BMPR2c.740A>T (p.Tyr247Phe)
c.671A>T (p.Tyr224Phe)
2g.202518941C>ACA350340410BMPR2c.741C>A (p.Tyr247Ter)
c.672C>A (p.Tyr224Ter)
2g.202518941C=CA1321539700BMPR2c.741C= (p.Tyr247=)
c.672C= (p.Tyr224=)
2g.202518941C>GCA350340409BMPR2c.741C>G (p.Tyr247Ter)
c.672C>G (p.Tyr224Ter)
2g.202518941C>TCA430839583BMPR2c.741C>T (p.Tyr247=)
c.672C>T (p.Tyr224=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518942A>CCA430839585BMPR2c.742A>C (p.Arg248=)
c.673A>C (p.Arg225=)
2g.202518942A>GCA350340411BMPR2c.742A>G (p.Arg248Gly)
c.673A>G (p.Arg225Gly)
2g.202518942A>TCA350340412BMPR2c.742A>T (p.Arg248Ter)
c.673A>T (p.Arg225Ter)
2g.202518943G>ACA350340413BMPR2c.743G>A (p.Arg248Lys)
c.674G>A (p.Arg225Lys)
2g.202518943G>CCA350340414BMPR2c.743G>C (p.Arg248Thr)
c.674G>C (p.Arg225Thr)
2g.202518943G>TCA350340415BMPR2c.743G>T (p.Arg248Ile)
c.674G>T (p.Arg225Ile)
2g.202518944A>CCA350340416BMPR2c.744A>C (p.Arg248Ser)
c.675A>C (p.Arg225Ser)
2g.202518944A>GCA430839598BMPR2c.744A>G (p.Arg248=)
c.675A>G (p.Arg225=)
2g.202518944A>TCA350340417BMPR2c.744A>T (p.Arg248Ser)
c.675A>T (p.Arg225Ser)
 COSMIC
2g.202518945G>ACA350340418BMPR2c.745G>A (p.Val249Met)
c.676G>A (p.Val226Met)
2g.202518945G>CCA350340419BMPR2c.745G>C (p.Val249Leu)
c.676G>C (p.Val226Leu)
2g.202518945G>TCA350340420BMPR2c.745G>T (p.Val249Leu)
c.676G>T (p.Val226Leu)
2g.202518946T>ACA350340421BMPR2c.746T>A (p.Val249Glu)
c.677T>A (p.Val226Glu)
2g.202518946T>CCA350340422BMPR2c.746T>C (p.Val249Ala)
c.677T>C (p.Val226Ala)
 gnomAD v4
2g.202518946T>GCA350340423BMPR2c.746T>G (p.Val249Gly)
c.677T>G (p.Val226Gly)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518946T=CA1321539701BMPR2c.746T= (p.Val249=)
c.677T= (p.Val226=)
2g.202518947G>ACA430839606BMPR2c.747G>A (p.Val249=)
c.678G>A (p.Val226=)
 gnomAD v4
2g.202518947G>CCA430839608BMPR2c.747G>C (p.Val249=)
c.678G>C (p.Val226=)
2g.202518947G=CA1321539702BMPR2c.747G= (p.Val249=)
c.678G= (p.Val226=)
2g.202518947G>TCA430839610BMPR2c.747G>T (p.Val249=)
c.678G>T (p.Val226=)
 dbSNP gnomAD v4
2g.202518948C>ACA350340424BMPR2c.748C>A (p.Pro250Thr)
c.679C>A (p.Pro227Thr)
2g.202518948C=CA1321539703BMPR2c.748C= (p.Pro250=)
c.679C= (p.Pro227=)
2g.202518948C>GCA2061198BMPR2c.748C>G (p.Pro250Ala)
c.679C>G (p.Pro227Ala)
 dbSNP ExAC gnomAD v2
2g.202518948C>TCA64015793BMPR2c.748C>T (p.Pro250Ser)
c.679C>T (p.Pro227Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202518949_202518965dupCA2586965532BMPR2c.749_765dup (p.Asn256LeufsTer2)
c.680_696dup (p.Asn233LeufsTer2)
2g.202518948_202518949insTACAGCA2701463985BMPR2c.748_749insTACAG (p.Pro250LeufsTer4)
c.679_680insTACAG (p.Pro227LeufsTer4)
 dbSNP
2g.202518949C>ACA350340425BMPR2c.749C>A (p.Pro250His)
c.680C>A (p.Pro227His)
2g.202518949C=CA1321539705BMPR2c.749C= (p.Pro250=)
c.680C= (p.Pro227=)
2g.202518949C>GCA350340426BMPR2c.749C>G (p.Pro250Arg)
c.680C>G (p.Pro227Arg)
 dbSNP gnomAD v3 gnomAD v4
2g.202518949C>TCA350340427BMPR2c.749C>T (p.Pro250Leu)
c.680C>T (p.Pro227Leu)
2g.202518949_202518950delinsCTCA1321539704BMPR2c.749_750delinsCT (p.Pro250=)
c.680_681delinsCT (p.Pro227=)
2g.202518950T>ACA430839622BMPR2c.750T>A (p.Pro250=)
c.681T>A (p.Pro227=)
2g.202518950T>CCA430839624BMPR2c.750T>C (p.Pro250=)
c.681T>C (p.Pro227=)
2g.202518950T>GCA430839620BMPR2c.750T>G (p.Pro250=)
c.681T>G (p.Pro227=)
2g.202518952delCA538972569BMPR2c.752del (p.Leu251Ter)
c.683del (p.Leu228Ter)
 dbSNP gnomAD v2 gnomAD v4
2g.202518950_202518951insCTCTGCA2701464024BMPR2c.750_751insCTCTG (p.Met252CysfsTer2)
c.681_682insCTCTG (p.Met229CysfsTer2)
 dbSNP
2g.202518950_202518951insCTCTGTTGCTTACAGTTTATTCCACA2701464029BMPR2c.750_751insCTCTGTTGCTTACAGTTTATTCCA (p.Pro250_Leu251insLeuCysCysLeuGlnPheIlePro)
c.681_682insCTCTGTTGCTTACAGTTTATTCCA (p.Pro227_Leu228insLeuCysCysLeuGlnPheIlePro)
 dbSNP
2g.202518951T>ACA350340428BMPR2c.751T>A (p.Leu251Met)
c.682T>A (p.Leu228Met)
2g.202518951T>CCA430839627BMPR2c.751T>C (p.Leu251=)
c.682T>C (p.Leu228=)
 dbSNP
2g.202518951T>GCA350340429BMPR2c.751T>G (p.Leu251Val)
c.682T>G (p.Leu228Val)
2g.202518951T=CA1321539706BMPR2c.751T= (p.Leu251=)
c.682T= (p.Leu228=)
2g.202518952T>ACA350340430BMPR2c.752T>A (p.Leu251Ter)
c.683T>A (p.Leu228Ter)
2g.202518952T>CCA350340431BMPR2c.752T>C (p.Leu251Ser)
c.683T>C (p.Leu228Ser)
 dbSNP
2g.202518952T>GCA350340432BMPR2c.752T>G (p.Leu251Trp)
c.683T>G (p.Leu228Trp)
2g.202518953G>ACA430839634BMPR2c.753G>A (p.Leu251=)
c.684G>A (p.Leu228=)
 ClinVar dbSNP gnomAD v4
2g.202518953G>CCA350340433BMPR2c.753G>C (p.Leu251Phe)
c.684G>C (p.Leu228Phe)
2g.202518953G=CA1321539707BMPR2c.753G= (p.Leu251=)
c.684G= (p.Leu228=)
2g.202518953G>TCA350340434BMPR2c.753G>T (p.Leu251Phe)
c.684G>T (p.Leu228Phe)
2g.202518954A>CCA350340435BMPR2c.754A>C (p.Met252Leu)
c.685A>C (p.Met229Leu)
2g.202518954A>GCA350340436BMPR2c.754A>G (p.Met252Val)
c.685A>G (p.Met229Val)
2g.202518954A>TCA350340437BMPR2c.754A>T (p.Met252Leu)
c.685A>T (p.Met229Leu)
2g.202518955T>ACA350340440BMPR2c.755T>A (p.Met252Lys)
c.686T>A (p.Met229Lys)
2g.202518955T>CCA350340439BMPR2c.755T>C (p.Met252Thr)
c.686T>C (p.Met229Thr)
 gnomAD v4
2g.202518955T>GCA350340438BMPR2c.755T>G (p.Met252Arg)
c.686T>G (p.Met229Arg)
2g.202518956G>ACA350340443BMPR2c.756G>A (p.Met252Ile)
c.687G>A (p.Met229Ile)
2g.202518956G>CCA350340441BMPR2c.756G>C (p.Met252Ile)
c.687G>C (p.Met229Ile)
2g.202518956G>TCA350340442BMPR2c.756G>T (p.Met252Ile)
c.687G>T (p.Met229Ile)
2g.202518957G>ACA350340444BMPR2c.757G>A (p.Glu253Lys)
c.688G>A (p.Glu230Lys)
2g.202518957G>CCA350340445BMPR2c.757G>C (p.Glu253Gln)
c.688G>C (p.Glu230Gln)
 COSMIC
2g.202518957G>TCA350340446BMPR2c.757G>T (p.Glu253Ter)
c.688G>T (p.Glu230Ter)
2g.202518958A>CCA350340447BMPR2c.758A>C (p.Glu253Ala)
c.689A>C (p.Glu230Ala)
2g.202518958A>GCA350340448BMPR2c.758A>G (p.Glu253Gly)
c.689A>G (p.Glu230Gly)
2g.202518958A>TCA350340449BMPR2c.758A>T (p.Glu253Val)
c.689A>T (p.Glu230Val)
2g.202518959A>CCA350340450BMPR2c.759A>C (p.Glu253Asp)
c.690A>C (p.Glu230Asp)
2g.202518959A>GCA430839653BMPR2c.759A>G (p.Glu253=)
c.690A>G (p.Glu230=)
2g.202518959A>TCA350340451BMPR2c.759A>T (p.Glu253Asp)
c.690A>T (p.Glu230Asp)
2g.202518960C>ACA350340452BMPR2c.760C>A (p.His254Asn)
c.691C>A (p.His231Asn)
2g.202518960C=CA1321539708BMPR2c.760C= (p.His254=)
c.691C= (p.His231=)
2g.202518960C>GCA64015800BMPR2c.760C>G (p.His254Asp)
c.691C>G (p.His231Asp)
 dbSNP
2g.202518960C>TCA350340453BMPR2c.760C>T (p.His254Tyr)
c.691C>T (p.His231Tyr)
2g.202518960_202518962delinsCATCA1321539709BMPR2c.760_762delinsCAT (p.His254=)
c.691_693delinsCAT (p.His231=)
2g.202518961A=CA1321539710BMPR2c.761A= (p.His254=)
c.692A= (p.His231=)
2g.202518961A>CCA350340455BMPR2c.761A>C (p.His254Pro)
c.692A>C (p.His231Pro)
2g.202518961A>GCA2061199BMPR2c.761A>G (p.His254Arg)
c.692A>G (p.His231Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518961A>TCA350340454BMPR2c.761A>T (p.His254Leu)
c.692A>T (p.His231Leu)
2g.202518961_202518962delCA915941646BMPR2c.761_762del (p.His254ArgfsTer11)
c.692_693del (p.His231ArgfsTer11)
 ClinVar dbSNP
2g.202518962T>ACA350340456BMPR2c.762T>A (p.His254Gln)
c.693T>A (p.His231Gln)
2g.202518962T>CCA430839666BMPR2c.762T>C (p.His254=)
c.693T>C (p.His231=)
2g.202518962T>GCA350340457BMPR2c.762T>G (p.His254Gln)
c.693T>G (p.His231Gln)
 gnomAD v4
2g.202518963G>ACA2061200BMPR2c.763G>A (p.Asp255Asn)
c.694G>A (p.Asp232Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518963G>CCA350340458BMPR2c.763G>C (p.Asp255His)
c.694G>C (p.Asp232His)
2g.202518963G=CA1321539711BMPR2c.763G= (p.Asp255=)
c.694G= (p.Asp232=)
2g.202518963G>TCA350340459BMPR2c.763G>T (p.Asp255Tyr)
c.694G>T (p.Asp232Tyr)
2g.202518964A>CCA350340460BMPR2c.764A>C (p.Asp255Ala)
c.695A>C (p.Asp232Ala)
2g.202518964A>GCA350340461BMPR2c.764A>G (p.Asp255Gly)
c.695A>G (p.Asp232Gly)
2g.202518964A>TCA350340462BMPR2c.764A>T (p.Asp255Val)
c.695A>T (p.Asp232Val)

Number of alleles fetched