Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202461237_202467808delCA915941492BMPR2c.77-3572_418+119del
 ClinVar
2g.202462494_202466873delCA915941493BMPR2c.77-2315_248-646del
 ClinVar
2g.202464831A=CA1321507525BMPR2c.99A= (p.Leu33=)
c.24A= (p.Leu8=)
n.6A=
2g.202464831A>CCA430903578BMPR2c.99A>C (p.Leu33=)
c.24A>C (p.Leu8=)
n.6A>C
2g.202464831A>GCA430903579BMPR2c.99A>G (p.Leu33=)
c.24A>G (p.Leu8=)
n.6A>G
 dbSNP gnomAD v4
2g.202464831A>TCA430903580BMPR2c.99A>T (p.Leu33=)
c.24A>T (p.Leu8=)
n.6A>T
 ClinVar gnomAD v4
2g.202464832T>ACA350399038BMPR2c.100T>A (p.Cys34Ser)
c.25T>A (p.Cys9Ser)
n.7T>A
2g.202464832T>CCA350399040BMPR2c.100T>C (p.Cys34Arg)
c.25T>C (p.Cys9Arg)
n.7T>C
 ClinVar dbSNP
2g.202464832T>GCA350399036BMPR2c.100T>G (p.Cys34Gly)
c.25T>G (p.Cys9Gly)
n.7T>G
2g.202464832T=CA1321507526BMPR2c.100T= (p.Cys34=)
c.25T= (p.Cys9=)
n.7T=
2g.202464833G>ACA350399043BMPR2c.101G>A (p.Cys34Tyr)
c.26G>A (p.Cys9Tyr)
n.8G>A
2g.202464833G>CCA350399045BMPR2c.101G>C (p.Cys34Ser)
c.26G>C (p.Cys9Ser)
n.8G>C
2g.202464833G=CA1321507527BMPR2c.101G= (p.Cys34=)
c.26G= (p.Cys9=)
n.8G=
2g.202464833G>TCA350399046BMPR2c.101G>T (p.Cys34Phe)
c.26G>T (p.Cys9Phe)
n.8G>T
2g.202464834T>ACA350399049BMPR2c.102T>A (p.Cys34Ter)
c.27T>A (p.Cys9Ter)
n.9T>A
2g.202464834T>CCA430903581BMPR2c.102T>C (p.Cys34=)
c.27T>C (p.Cys9=)
n.9T>C
2g.202464834T>GCA350399051BMPR2c.102T>G (p.Cys34Trp)
c.27T>G (p.Cys9Trp)
n.9T>G
2g.202464834dupCA1321507528BMPR2c.102dup (p.Ala35CysfsTer3)
c.27dup (p.Ala10CysfsTer3)
n.9dup
 dbSNP
2g.202464834_202464835delinsTGCA1321507529BMPR2c.102_103delinsTG (p.Cys34=)
c.27_28delinsTG (p.Cys9=)
n.9_10delinsTG
2g.202464835delCA645293989BMPR2c.103del (p.Ala35ArgfsTer12)
c.28del (p.Ala10ArgfsTer12)
n.10del
 ClinVar dbSNP
2g.202464835G>ACA350399053BMPR2c.103G>A (p.Ala35Thr)
c.28G>A (p.Ala10Thr)
n.10G>A
 dbSNP
2g.202464835G>CCA350399055BMPR2c.103G>C (p.Ala35Pro)
c.28G>C (p.Ala10Pro)
n.10G>C
2g.202464835G=CA1321507531BMPR2c.103G= (p.Ala35=)
c.28G= (p.Ala10=)
n.10G=
2g.202464835G>TCA350399057BMPR2c.103G>T (p.Ala35Ser)
c.28G>T (p.Ala10Ser)
n.10G>T
2g.202464836C>ACA350399060BMPR2c.104C>A (p.Ala35Glu)
c.29C>A (p.Ala10Glu)
n.11C>A
2g.202464836C=CA1321507532BMPR2c.104C= (p.Ala35=)
c.29C= (p.Ala10=)
n.11C=
2g.202464836C>GCA350399061BMPR2c.104C>G (p.Ala35Gly)
c.29C>G (p.Ala10Gly)
n.11C>G
2g.202464836C>TCA64532180BMPR2c.104C>T (p.Ala35Val)
c.29C>T (p.Ala10Val)
n.11C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202464837G>ACA2061038BMPR2c.105G>A (p.Ala35=)
c.30G>A (p.Ala10=)
n.12G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464837G>CCA430903584BMPR2c.105G>C (p.Ala35=)
c.30G>C (p.Ala10=)
n.12G>C
2g.202464837G=CA1321507534BMPR2c.105G= (p.Ala35=)
c.30G= (p.Ala10=)
n.12G=
2g.202464837G>TCA430903585BMPR2c.105G>T (p.Ala35=)
c.30G>T (p.Ala10=)
n.12G>T
2g.202464838T>ACA350399068BMPR2c.106T>A (p.Phe36Ile)
c.31T>A (p.Phe11Ile)
n.13T>A
2g.202464838T>CCA350399070BMPR2c.106T>C (p.Phe36Leu)
c.31T>C (p.Phe11Leu)
n.13T>C
2g.202464838T>GCA350399066BMPR2c.106T>G (p.Phe36Val)
c.31T>G (p.Phe11Val)
n.13T>G
2g.202464839T>ACA350399072BMPR2c.107T>A (p.Phe36Tyr)
c.32T>A (p.Phe11Tyr)
n.14T>A
2g.202464839T>CCA350399074BMPR2c.107T>C (p.Phe36Ser)
c.32T>C (p.Phe11Ser)
n.14T>C
2g.202464839T>GCA350399075BMPR2c.107T>G (p.Phe36Cys)
c.32T>G (p.Phe11Cys)
n.14T>G
2g.202464840T>ACA350399078BMPR2c.108T>A (p.Phe36Leu)
c.33T>A (p.Phe11Leu)
n.15T>A
 gnomAD v4
2g.202464840T>CCA430903587BMPR2c.108T>C (p.Phe36=)
c.33T>C (p.Phe11=)
n.15T>C
2g.202464840T>GCA350399080BMPR2c.108T>G (p.Phe36Leu)
c.33T>G (p.Phe11Leu)
n.15T>G
2g.202464841A>CCA350399086BMPR2c.109A>C (p.Lys37Gln)
c.34A>C (p.Lys12Gln)
n.16A>C
2g.202464841A>GCA350399082BMPR2c.109A>G (p.Lys37Glu)
c.34A>G (p.Lys12Glu)
n.16A>G
2g.202464841A>TCA350399084BMPR2c.109A>T (p.Lys37Ter)
c.34A>T (p.Lys12Ter)
n.16A>T
2g.202464842A>CCA350399088BMPR2c.110A>C (p.Lys37Thr)
c.35A>C (p.Lys12Thr)
n.17A>C
2g.202464842A>GCA350399090BMPR2c.110A>G (p.Lys37Arg)
c.35A>G (p.Lys12Arg)
n.17A>G
2g.202464842A>TCA350399091BMPR2c.110A>T (p.Lys37Ile)
c.35A>T (p.Lys12Ile)
n.17A>T
2g.202464843A=CA1321507535BMPR2c.111A= (p.Lys37=)
c.36A= (p.Lys12=)
n.18A=
2g.202464843A>CCA350399094BMPR2c.111A>C (p.Lys37Asn)
c.36A>C (p.Lys12Asn)
n.18A>C
2g.202464843A>GCA430903588BMPR2c.111A>G (p.Lys37=)
c.36A>G (p.Lys12=)
n.18A>G
 ClinVar dbSNP
2g.202464843A>TCA350399096BMPR2c.111A>T (p.Lys37Asn)
c.36A>T (p.Lys12Asn)
n.18A>T
2g.202464844G>ACA350399098BMPR2c.112G>A (p.Asp38Asn)
c.37G>A (p.Asp13Asn)
n.19G>A
 gnomAD v4
2g.202464844G>CCA350399102BMPR2c.112G>C (p.Asp38His)
c.37G>C (p.Asp13His)
n.19G>C
2g.202464844G>TCA350399100BMPR2c.112G>T (p.Asp38Tyr)
c.37G>T (p.Asp13Tyr)
n.19G>T
2g.202464845A>CCA350399104BMPR2c.113A>C (p.Asp38Ala)
c.38A>C (p.Asp13Ala)
n.20A>C
2g.202464845A>GCA350399108BMPR2c.113A>G (p.Asp38Gly)
c.38A>G (p.Asp13Gly)
n.20A>G
2g.202464845A>TCA350399106BMPR2c.113A>T (p.Asp38Val)
c.38A>T (p.Asp13Val)
n.20A>T
2g.202464846T>ACA350399110BMPR2c.114T>A (p.Asp38Glu)
c.39T>A (p.Asp13Glu)
n.21T>A
2g.202464846T>CCA430903590BMPR2c.114T>C (p.Asp38=)
c.39T>C (p.Asp13=)
n.21T>C
 dbSNP gnomAD v2 gnomAD v4
2g.202464846T>GCA350399112BMPR2c.114T>G (p.Asp38Glu)
c.39T>G (p.Asp13Glu)
n.21T>G
2g.202464846T=CA1321507540BMPR2c.114T= (p.Asp38=)
c.39T= (p.Asp13=)
n.21T=
2g.202464846_202464847delinsTCCA1321507539BMPR2c.114_115delinsTC (p.Asp38=)
c.39_40delinsTC (p.Asp13=)
n.21_22delinsTC
2g.202464847C>ACA350399115BMPR2c.115C>A (p.Pro39Thr)
c.40C>A (p.Pro14Thr)
n.22C>A
2g.202464847C=CA1321507545BMPR2c.115C= (p.Pro39=)
c.40C= (p.Pro14=)
n.22C=
2g.202464847C>GCA350399116BMPR2c.115C>G (p.Pro39Ala)
c.40C>G (p.Pro14Ala)
n.22C>G
2g.202464847C>TCA350399118BMPR2c.115C>T (p.Pro39Ser)
c.40C>T (p.Pro14Ser)
n.22C>T
 dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202464848delCA645293990BMPR2c.116del (p.Pro39ArgfsTer8)
c.41del (p.Pro14ArgfsTer8)
n.23del
 ClinVar dbSNP
2g.202464848C>ACA350399121BMPR2c.116C>A (p.Pro39Gln)
c.41C>A (p.Pro14Gln)
n.23C>A
2g.202464848C=CA1321507548BMPR2c.116C= (p.Pro39=)
c.41C= (p.Pro14=)
n.23C=
2g.202464848C>GCA350399122BMPR2c.116C>G (p.Pro39Arg)
c.41C>G (p.Pro14Arg)
n.23C>G
2g.202464848C>TCA2061039BMPR2c.116C>T (p.Pro39Leu)
c.41C>T (p.Pro14Leu)
n.23C>T
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202464849delCA2586965526BMPR2c.117del (p.Tyr40IlefsTer7)
c.42del (p.Tyr15IlefsTer7)
n.24del
2g.202464849G>ACA2061040BMPR2c.117G>A (p.Pro39=)
c.42G>A (p.Pro14=)
n.24G>A
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202464849G>CCA430903593BMPR2c.117G>C (p.Pro39=)
c.42G>C (p.Pro14=)
n.24G>C
 gnomAD v4
2g.202464849G=CA1321507551BMPR2c.117G= (p.Pro39=)
c.42G= (p.Pro14=)
n.24G=
2g.202464849G>TCA430903594BMPR2c.117G>T (p.Pro39=)
c.42G>T (p.Pro14=)
n.24G>T
2g.202464850T>ACA350399127BMPR2c.118T>A (p.Tyr40Asn)
c.43T>A (p.Tyr15Asn)
n.25T>A
2g.202464850T>CCA350399129BMPR2c.118T>C (p.Tyr40His)
c.43T>C (p.Tyr15His)
n.25T>C
2g.202464850T>GCA350399130BMPR2c.118T>G (p.Tyr40Asp)
c.43T>G (p.Tyr15Asp)
n.25T>G
2g.202464850dupCA2586965527BMPR2c.118dup (p.Tyr40LeufsTer9)
c.43dup (p.Tyr15LeufsTer9)
n.25dup
2g.202464851A>CCA350399133BMPR2c.119A>C (p.Tyr40Ser)
c.44A>C (p.Tyr15Ser)
n.26A>C
2g.202464851A>GCA350399135BMPR2c.119A>G (p.Tyr40Cys)
c.44A>G (p.Tyr15Cys)
n.26A>G
2g.202464851A>TCA350399136BMPR2c.119A>T (p.Tyr40Phe)
c.44A>T (p.Tyr15Phe)
n.26A>T
2g.202464852T>ACA350399138BMPR2c.120T>A (p.Tyr40Ter)
c.45T>A (p.Tyr15Ter)
n.27T>A
 ClinVar dbSNP
2g.202464852T>CCA430903597BMPR2c.120T>C (p.Tyr40=)
c.45T>C (p.Tyr15=)
n.27T>C
2g.202464852T>GCA119938BMPR2c.120T>G (p.Tyr40Ter)
c.45T>G (p.Tyr15Ter)
n.27T>G
 ClinVar dbSNP
2g.202464852T=CA1321507556BMPR2c.120T= (p.Tyr40=)
c.45T= (p.Tyr15=)
n.27T=
2g.202464853C>ACA350399141BMPR2c.121C>A (p.Gln41Lys)
c.46C>A (p.Gln16Lys)
n.28C>A
2g.202464853C>GCA350399143BMPR2c.121C>G (p.Gln41Glu)
c.46C>G (p.Gln16Glu)
n.28C>G
2g.202464853C>TCA350399145BMPR2c.121C>T (p.Gln41Ter)
c.46C>T (p.Gln16Ter)
n.28C>T
 COSMIC
2g.202464854A>CCA350399147BMPR2c.122A>C (p.Gln41Pro)
c.47A>C (p.Gln16Pro)
n.29A>C
2g.202464854A>GCA350399150BMPR2c.122A>G (p.Gln41Arg)
c.47A>G (p.Gln16Arg)
n.29A>G
 gnomAD v4
2g.202464854A>TCA350399152BMPR2c.122A>T (p.Gln41Leu)
c.47A>T (p.Gln16Leu)
n.29A>T
2g.202464855G>ACA430903598BMPR2c.123G>A (p.Gln41=)
c.48G>A (p.Gln16=)
n.30G>A
 gnomAD v4
2g.202464855G>CCA350399154BMPR2c.123G>C (p.Gln41His)
c.48G>C (p.Gln16His)
n.30G>C
2g.202464855G>TCA350399155BMPR2c.123G>T (p.Gln41His)
c.48G>T (p.Gln16His)
n.30G>T
 dbSNP
2g.202464856C>ACA350399158BMPR2c.124C>A (p.Gln42Lys)
c.49C>A (p.Gln17Lys)
n.31C>A
2g.202464856C=CA1321507563BMPR2c.124C= (p.Gln42=)
c.49C= (p.Gln17=)
n.31C=
2g.202464856C>GCA350399160BMPR2c.124C>G (p.Gln42Glu)
c.49C>G (p.Gln17Glu)
n.31C>G
 gnomAD v4
2g.202464856C>TCA350399161BMPR2c.124C>T (p.Gln42Ter)
c.49C>T (p.Gln17Ter)
n.31C>T
 ClinVar dbSNP
2g.202464857A=CA1321507570BMPR2c.125A= (p.Gln42=)
c.50A= (p.Gln17=)
n.32A=
2g.202464857A>CCA350399168BMPR2c.125A>C (p.Gln42Pro)
c.50A>C (p.Gln17Pro)
n.32A>C
2g.202464857A>GCA350399166BMPR2c.125A>G (p.Gln42Arg)
c.50A>G (p.Gln17Arg)
n.32A>G
 ClinVar dbSNP
2g.202464857A>TCA350399165BMPR2c.125A>T (p.Gln42Leu)
c.50A>T (p.Gln17Leu)
n.32A>T
2g.202464858A>CCA350399172BMPR2c.126A>C (p.Gln42His)
c.51A>C (p.Gln17His)
n.33A>C
2g.202464858A>GCA430903600BMPR2c.126A>G (p.Gln42=)
c.51A>G (p.Gln17=)
n.33A>G
 gnomAD v4
2g.202464858A>TCA350399170BMPR2c.126A>T (p.Gln42His)
c.51A>T (p.Gln17His)
n.33A>T
2g.202464859G>ACA350399174BMPR2c.127G>A (p.Asp43Asn)
c.52G>A (p.Asp18Asn)
n.34G>A
2g.202464859G>CCA350399176BMPR2c.127G>C (p.Asp43His)
c.52G>C (p.Asp18His)
n.34G>C
2g.202464859G>TCA350399178BMPR2c.127G>T (p.Asp43Tyr)
c.52G>T (p.Asp18Tyr)
n.34G>T
2g.202464860A>CCA350399181BMPR2c.128A>C (p.Asp43Ala)
c.53A>C (p.Asp18Ala)
n.35A>C
 gnomAD v4
2g.202464860A>GCA350399182BMPR2c.128A>G (p.Asp43Gly)
c.53A>G (p.Asp18Gly)
n.35A>G
2g.202464860A>TCA350399184BMPR2c.128A>T (p.Asp43Val)
c.53A>T (p.Asp18Val)
n.35A>T
2g.202464861C>ACA350399187BMPR2c.129C>A (p.Asp43Glu)
c.54C>A (p.Asp18Glu)
n.36C>A
2g.202464861C>GCA350399188BMPR2c.129C>G (p.Asp43Glu)
c.54C>G (p.Asp18Glu)
n.36C>G
2g.202464861C>TCA430903602BMPR2c.129C>T (p.Asp43=)
c.54C>T (p.Asp18=)
n.36C>T
2g.202464862C>ACA350399191BMPR2c.130C>A (p.Leu44Ile)
c.55C>A (p.Leu19Ile)
n.37C>A
2g.202464862C>GCA350399193BMPR2c.130C>G (p.Leu44Val)
c.55C>G (p.Leu19Val)
n.37C>G
2g.202464862C>TCA350399195BMPR2c.130C>T (p.Leu44Phe)
c.55C>T (p.Leu19Phe)
n.37C>T
2g.202464863T>ACA350399202BMPR2c.131T>A (p.Leu44His)
c.56T>A (p.Leu19His)
n.38T>A
2g.202464863T>CCA350399200BMPR2c.131T>C (p.Leu44Pro)
c.56T>C (p.Leu19Pro)
n.38T>C
2g.202464863T>GCA350399198BMPR2c.131T>G (p.Leu44Arg)
c.56T>G (p.Leu19Arg)
n.38T>G
2g.202464864T>ACA430903603BMPR2c.132T>A (p.Leu44=)
c.57T>A (p.Leu19=)
n.39T>A
2g.202464864T>CCA430903604BMPR2c.132T>C (p.Leu44=)
c.57T>C (p.Leu19=)
n.39T>C
 gnomAD v4
2g.202464864T>GCA430903605BMPR2c.132T>G (p.Leu44=)
c.57T>G (p.Leu19=)
n.39T>G
2g.202464865G>ACA350399204BMPR2c.133G>A (p.Gly45Arg)
c.58G>A (p.Gly20Arg)
n.40G>A
2g.202464865G>CCA350399206BMPR2c.133G>C (p.Gly45Arg)
c.58G>C (p.Gly20Arg)
n.40G>C
2g.202464865G>TCA350399208BMPR2c.133G>T (p.Gly45Trp)
c.58G>T (p.Gly20Trp)
n.40G>T
2g.202464867dupCA2586965528BMPR2c.135dup (p.Ile46AspfsTer3)
c.60dup (p.Ile21AspfsTer3)
n.42dup
2g.202464867delCA2573134350BMPR2c.135del (p.Ile46Ter)
c.60del (p.Ile21Ter)
n.42del
 ClinVar dbSNP
2g.202464866G>ACA350399211BMPR2c.134G>A (p.Gly45Glu)
c.59G>A (p.Gly20Glu)
n.41G>A
2g.202464866G>CCA350399213BMPR2c.134G>C (p.Gly45Ala)
c.59G>C (p.Gly20Ala)
n.41G>C
 dbSNP
2g.202464866G=CA1321507575BMPR2c.134G= (p.Gly45=)
c.59G= (p.Gly20=)
n.41G=
2g.202464866G>TCA350399214BMPR2c.134G>T (p.Gly45Val)
c.59G>T (p.Gly20Val)
n.41G>T
2g.202464867G>ACA430903606BMPR2c.135G>A (p.Gly45=)
c.60G>A (p.Gly20=)
n.42G>A
 gnomAD v4
2g.202464867G>CCA430903608BMPR2c.135G>C (p.Gly45=)
c.60G>C (p.Gly20=)
n.42G>C
2g.202464867G>TCA430903607BMPR2c.135G>T (p.Gly45=)
c.60G>T (p.Gly20=)
n.42G>T
 COSMIC
2g.202464868A=CA1321507578BMPR2c.136A= (p.Ile46=)
c.61A= (p.Ile21=)
n.43A=
2g.202464868A>CCA350399217BMPR2c.136A>C (p.Ile46Leu)
c.61A>C (p.Ile21Leu)
n.43A>C
2g.202464868A>GCA241419BMPR2c.136A>G (p.Ile46Val)
c.61A>G (p.Ile21Val)
n.43A>G
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202464868A>TCA2061041BMPR2c.136A>T (p.Ile46Leu)
c.61A>T (p.Ile21Leu)
n.43A>T
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464869T>ACA350399221BMPR2c.137T>A (p.Ile46Lys)
c.62T>A (p.Ile21Lys)
n.44T>A
2g.202464869T>CCA350399223BMPR2c.137T>C (p.Ile46Thr)
c.62T>C (p.Ile21Thr)
n.44T>C
 gnomAD v4
2g.202464869T>GCA350399225BMPR2c.137T>G (p.Ile46Arg)
c.62T>G (p.Ile21Arg)
n.44T>G
2g.202464870A=CA1321507592BMPR2c.138A= (p.Ile46=)
c.63A= (p.Ile21=)
n.45A=
2g.202464870A>CCA430903609BMPR2c.138A>C (p.Ile46=)
c.63A>C (p.Ile21=)
n.45A>C
2g.202464870A>GCA350399228BMPR2c.138A>G (p.Ile46Met)
c.63A>G (p.Ile21Met)
n.45A>G
 dbSNP
2g.202464870A>TCA430903610BMPR2c.138A>T (p.Ile46=)
c.63A>T (p.Ile21=)
n.45A>T
2g.202464871G>ACA350399232BMPR2c.139G>A (p.Gly47Ser)
c.64G>A (p.Gly22Ser)
n.46G>A
 dbSNP gnomAD v4
2g.202464871G>CCA350399234BMPR2c.139G>C (p.Gly47Arg)
c.64G>C (p.Gly22Arg)
n.46G>C
2g.202464871G=CA1321507595BMPR2c.139G= (p.Gly47=)
c.64G= (p.Gly22=)
n.46G=
2g.202464871G>TCA350399229BMPR2c.139G>T (p.Gly47Cys)
c.64G>T (p.Gly22Cys)
n.46G>T
2g.202464872G>ACA350399236BMPR2c.140G>A (p.Gly47Asp)
c.65G>A (p.Gly22Asp)
n.47G>A
 ClinVar dbSNP
2g.202464872G>CCA350399238BMPR2c.140G>C (p.Gly47Ala)
c.65G>C (p.Gly22Ala)
n.47G>C
2g.202464872G=CA1321507598BMPR2c.140G= (p.Gly47=)
c.65G= (p.Gly22=)
n.47G=
2g.202464872G>TCA350399240BMPR2c.140G>T (p.Gly47Val)
c.65G>T (p.Gly22Val)
n.47G>T
2g.202464873T>ACA430903611BMPR2c.141T>A (p.Gly47=)
c.66T>A (p.Gly22=)
n.48T>A
2g.202464873T>CCA430903612BMPR2c.141T>C (p.Gly47=)
c.66T>C (p.Gly22=)
n.48T>C
 dbSNP
2g.202464873T>GCA430903613BMPR2c.141T>G (p.Gly47=)
c.66T>G (p.Gly22=)
n.48T>G
2g.202464873T=CA1321507604BMPR2c.141T= (p.Gly47=)
c.66T= (p.Gly22=)
n.48T=
2g.202464874G>ACA350399242BMPR2c.142G>A (p.Glu48Lys)
c.67G>A (p.Glu23Lys)
n.49G>A
2g.202464874G>CCA350399243BMPR2c.142G>C (p.Glu48Gln)
c.67G>C (p.Glu23Gln)
n.49G>C
2g.202464874G>TCA350399245BMPR2c.142G>T (p.Glu48Ter)
c.67G>T (p.Glu23Ter)
n.49G>T
2g.202464874dupCA916082273BMPR2c.142dup (p.Glu48GlyfsTer3)
c.67dup (p.Glu23GlyfsTer3)
n.49dup
 ClinVar dbSNP
2g.202464875A>CCA350399251BMPR2c.143A>C (p.Glu48Ala)
c.68A>C (p.Glu23Ala)
n.50A>C
2g.202464875A>GCA350399247BMPR2c.143A>G (p.Glu48Gly)
c.68A>G (p.Glu23Gly)
n.50A>G
2g.202464875A>TCA350399249BMPR2c.143A>T (p.Glu48Val)
c.68A>T (p.Glu23Val)
n.50A>T
2g.202464876G>ACA430903614BMPR2c.144G>A (p.Glu48=)
c.69G>A (p.Glu23=)
n.51G>A
2g.202464876G>CCA350399252BMPR2c.144G>C (p.Glu48Asp)
c.69G>C (p.Glu23Asp)
n.51G>C
2g.202464876G=CA1321507615BMPR2c.144G= (p.Glu48=)
c.69G= (p.Glu23=)
n.51G=
2g.202464876G>TCA350399254BMPR2c.144G>T (p.Glu48Asp)
c.69G>T (p.Glu23Asp)
n.51G>T
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202464877A>CCA350399256BMPR2c.145A>C (p.Ser49Arg)
c.70A>C (p.Ser24Arg)
n.52A>C
2g.202464877A>GCA350399257BMPR2c.145A>G (p.Ser49Gly)
c.70A>G (p.Ser24Gly)
n.52A>G
2g.202464877A>TCA350399258BMPR2c.145A>T (p.Ser49Cys)
c.70A>T (p.Ser24Cys)
n.52A>T
2g.202464878delCA2573134351BMPR2c.146del (p.Ser49IlefsTer29)
c.71del (p.Ser24IlefsTer29)
n.53del
 ClinVar dbSNP
2g.202464878G>ACA350399259BMPR2c.146G>A (p.Ser49Asn)
c.71G>A (p.Ser24Asn)
n.53G>A
 dbSNP
2g.202464878G>CCA350399261BMPR2c.146G>C (p.Ser49Thr)
c.71G>C (p.Ser24Thr)
n.53G>C
2g.202464878G=CA1321507619BMPR2c.146G= (p.Ser49=)
c.71G= (p.Ser24=)
n.53G=
2g.202464878G>TCA350399260BMPR2c.146G>T (p.Ser49Ile)
c.71G>T (p.Ser24Ile)
n.53G>T
2g.202464879T>ACA350399262BMPR2c.147T>A (p.Ser49Arg)
c.72T>A (p.Ser24Arg)
n.54T>A
2g.202464879T>CCA2061043BMPR2c.147T>C (p.Ser49=)
c.72T>C (p.Ser24=)
n.54T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464879T>GCA2061042BMPR2c.147T>G (p.Ser49Arg)
c.72T>G (p.Ser24Arg)
n.54T>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202464879T=CA1321507625BMPR2c.147T= (p.Ser49=)
c.72T= (p.Ser24=)
n.54T=
2g.202464880A>CCA430903615BMPR2c.148A>C (p.Arg50=)
c.73A>C (p.Arg25=)
n.55A>C
2g.202464880A>GCA350399263BMPR2c.148A>G (p.Arg50Gly)
c.73A>G (p.Arg25Gly)
n.55A>G
2g.202464880A>TCA350399264BMPR2c.148A>T (p.Arg50Ter)
c.73A>T (p.Arg25Ter)
n.55A>T
2g.202464881G>ACA350399265BMPR2c.149G>A (p.Arg50Lys)
c.74G>A (p.Arg25Lys)
n.56G>A
2g.202464881G>CCA350399266BMPR2c.149G>C (p.Arg50Thr)
c.74G>C (p.Arg25Thr)
n.56G>C
2g.202464881G>TCA350399267BMPR2c.149G>T (p.Arg50Ile)
c.74G>T (p.Arg25Ile)
n.56G>T
2g.202464882A=CA1321507628BMPR2c.150A= (p.Arg50=)
c.75A= (p.Arg25=)
n.57A=
2g.202464882A>CCA350399268BMPR2c.150A>C (p.Arg50Ser)
c.75A>C (p.Arg25Ser)
n.57A>C
2g.202464882A>GCA2061044BMPR2c.150A>G (p.Arg50=)
c.75A>G (p.Arg25=)
n.57A>G
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202464882A>TCA350399269BMPR2c.150A>T (p.Arg50Ser)
c.75A>T (p.Arg25Ser)
n.57A>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202464883A=CA1321507633BMPR2c.151A= (p.Ile51=)
c.76A= (p.Ile26=)
n.58A=
2g.202464883A>CCA350399270BMPR2c.151A>C (p.Ile51Leu)
c.76A>C (p.Ile26Leu)
n.58A>C
 dbSNP gnomAD v3 gnomAD v4
2g.202464883A>GCA350399272BMPR2c.151A>G (p.Ile51Val)
c.76A>G (p.Ile26Val)
n.58A>G
 dbSNP gnomAD v2 gnomAD v4
2g.202464883A>TCA350399271BMPR2c.151A>T (p.Ile51Phe)
c.76A>T (p.Ile26Phe)
n.58A>T
2g.202464883_202464885delinsATCCA1321507631BMPR2c.151_153delinsATC (p.Ile51=)
c.76_78delinsATC (p.Ile26=)
n.58_60delinsATC
2g.202464884T>ACA350399273BMPR2c.152T>A (p.Ile51Asn)
c.77T>A (p.Ile26Asn)
n.59T>A
2g.202464884T>CCA350399274BMPR2c.152T>C (p.Ile51Thr)
c.77T>C (p.Ile26Thr)
n.59T>C
2g.202464884T>GCA350399275BMPR2c.152T>G (p.Ile51Ser)
c.77T>G (p.Ile26Ser)
n.59T>G
2g.202464888_202464889delCA645293991BMPR2c.156_157del (p.His53Ter)
c.81_82del (p.His28Ter)
n.63_64del
 ClinVar dbSNP
2g.202464885C>ACA430903616BMPR2c.153C>A (p.Ile51=)
c.78C>A (p.Ile26=)
n.60C>A
2g.202464885C=CA1321507642BMPR2c.153C= (p.Ile51=)
c.78C= (p.Ile26=)
n.60C=
2g.202464885C>GCA350399276BMPR2c.153C>G (p.Ile51Met)
c.78C>G (p.Ile26Met)
n.60C>G
 dbSNP gnomAD v3 gnomAD v4
2g.202464885C>TCA430903617BMPR2c.153C>T (p.Ile51=)
c.78C>T (p.Ile26=)
n.60C>T
2g.202464886T>ACA350399277BMPR2c.154T>A (p.Ser52Thr)
c.79T>A (p.Ser27Thr)
n.61T>A
2g.202464886T>CCA350399278BMPR2c.154T>C (p.Ser52Pro)
c.79T>C (p.Ser27Pro)
n.61T>C
2g.202464886T>GCA350399279BMPR2c.154T>G (p.Ser52Ala)
c.79T>G (p.Ser27Ala)
n.61T>G
2g.202464887C>ACA350399280BMPR2c.155C>A (p.Ser52Tyr)
c.80C>A (p.Ser27Tyr)
n.62C>A
2g.202464887C=CA1321507649BMPR2c.155C= (p.Ser52=)
c.80C= (p.Ser27=)
n.62C=
2g.202464887C>GCA350399281BMPR2c.155C>G (p.Ser52Cys)
c.80C>G (p.Ser27Cys)
n.62C>G
2g.202464887C>TCA64532181BMPR2c.155C>T (p.Ser52Phe)
c.80C>T (p.Ser27Phe)
n.62C>T
 dbSNP gnomAD v4
2g.202464888T>ACA430903618BMPR2c.156T>A (p.Ser52=)
c.81T>A (p.Ser27=)
n.63T>A
2g.202464888T>CCA430903619BMPR2c.156T>C (p.Ser52=)
c.81T>C (p.Ser27=)
n.63T>C
2g.202464888T>GCA430903620BMPR2c.156T>G (p.Ser52=)
c.81T>G (p.Ser27=)
n.63T>G
 gnomAD v4
2g.202464889C>ACA350399282BMPR2c.157C>A (p.His53Asn)
c.82C>A (p.His28Asn)
n.64C>A
2g.202464889C>GCA350399283BMPR2c.157C>G (p.His53Asp)
c.82C>G (p.His28Asp)
n.64C>G
2g.202464889C>TCA350399284BMPR2c.157C>T (p.His53Tyr)
c.82C>T (p.His28Tyr)
n.64C>T
2g.202464890A>CCA350399285BMPR2c.158A>C (p.His53Pro)
c.83A>C (p.His28Pro)
n.65A>C
2g.202464890A>GCA350399287BMPR2c.158A>G (p.His53Arg)
c.83A>G (p.His28Arg)
n.65A>G
 gnomAD v4
2g.202464890A>TCA350399286BMPR2c.158A>T (p.His53Leu)
c.83A>T (p.His28Leu)
n.65A>T
2g.202464891T>ACA350399288BMPR2c.159T>A (p.His53Gln)
c.84T>A (p.His28Gln)
n.66T>A
2g.202464891T>CCA430903621BMPR2c.159T>C (p.His53=)
c.84T>C (p.His28=)
n.66T>C
2g.202464891T>GCA350399289BMPR2c.159T>G (p.His53Gln)
c.84T>G (p.His28Gln)
n.66T>G
2g.202464892G>ACA350399290BMPR2c.160G>A (p.Glu54Lys)
c.85G>A (p.Glu29Lys)
n.67G>A
2g.202464892G>CCA350399291BMPR2c.160G>C (p.Glu54Gln)
c.85G>C (p.Glu29Gln)
n.67G>C
2g.202464892G>TCA350399292BMPR2c.160G>T (p.Glu54Ter)
c.85G>T (p.Glu29Ter)
n.67G>T
2g.202464893A>CCA350399293BMPR2c.161A>C (p.Glu54Ala)
c.86A>C (p.Glu29Ala)
n.68A>C
2g.202464893A>GCA350399294BMPR2c.161A>G (p.Glu54Gly)
c.86A>G (p.Glu29Gly)
n.68A>G
2g.202464893A>TCA350399295BMPR2c.161A>T (p.Glu54Val)
c.86A>T (p.Glu29Val)
n.68A>T
2g.202464896dupCA645531963BMPR2c.164dup (p.Asn55LysfsTer10)
c.89dup (p.Asn30LysfsTer10)
n.71dup
 COSMIC
2g.202464896delCA2586965529BMPR2c.164del (p.Asn55MetfsTer23)
c.89del (p.Asn30MetfsTer23)
n.71del
2g.202464894A>CCA350399296BMPR2c.162A>C (p.Glu54Asp)
c.87A>C (p.Glu29Asp)
n.69A>C
2g.202464894A>GCA430903622BMPR2c.162A>G (p.Glu54=)
c.87A>G (p.Glu29=)
n.69A>G
2g.202464894A>TCA350399297BMPR2c.162A>T (p.Glu54Asp)
c.87A>T (p.Glu29Asp)
n.69A>T
2g.202464895A>CCA350399299BMPR2c.163A>C (p.Asn55His)
c.88A>C (p.Asn30His)
n.70A>C
2g.202464895A>GCA350399300BMPR2c.163A>G (p.Asn55Asp)
c.88A>G (p.Asn30Asp)
n.70A>G
2g.202464895A>TCA350399298BMPR2c.163A>T (p.Asn55Tyr)
c.88A>T (p.Asn30Tyr)
n.70A>T
2g.202464896A>CCA350399302BMPR2c.164A>C (p.Asn55Thr)
c.89A>C (p.Asn30Thr)
n.71A>C
2g.202464896A>GCA350399301BMPR2c.164A>G (p.Asn55Ser)
c.89A>G (p.Asn30Ser)
n.71A>G
2g.202464896A>TCA350399303BMPR2c.164A>T (p.Asn55Ile)
c.89A>T (p.Asn30Ile)
n.71A>T
2g.202464897T>ACA350399304BMPR2c.165T>A (p.Asn55Lys)
c.90T>A (p.Asn30Lys)
n.72T>A
2g.202464897T>CCA2061045BMPR2c.165T>C (p.Asn55=)
c.90T>C (p.Asn30=)
n.72T>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202464897T>GCA350399305BMPR2c.165T>G (p.Asn55Lys)
c.90T>G (p.Asn30Lys)
n.72T>G
2g.202464897T=CA1321507655BMPR2c.165T= (p.Asn55=)
c.90T= (p.Asn30=)
n.72T=
2g.202464897_202464898delinsTGCA1321507658BMPR2c.165_166delinsTG (p.Asn55=)
c.90_91delinsTG (p.Asn30=)
n.72_73delinsTG
2g.202464898G>ACA350399306BMPR2c.166G>A (p.Gly56Arg)
c.91G>A (p.Gly31Arg)
n.73G>A
 gnomAD v4
2g.202464898G>CCA350399307BMPR2c.166G>C (p.Gly56Arg)
c.91G>C (p.Gly31Arg)
n.73G>C
2g.202464898G>TCA350399308BMPR2c.166G>T (p.Gly56Trp)
c.91G>T (p.Gly31Trp)
n.73G>T
2g.202464900delCA645293992BMPR2c.168del (p.Thr57GlnfsTer21)
c.93del (p.Thr32GlnfsTer21)
n.75del
 ClinVar dbSNP
2g.202464899G>ACA350399309BMPR2c.167G>A (p.Gly56Glu)
c.92G>A (p.Gly31Glu)
n.74G>A
2g.202464899G>CCA350399310BMPR2c.167G>C (p.Gly56Ala)
c.92G>C (p.Gly31Ala)
n.74G>C
 dbSNP
2g.202464899G=CA1321507663BMPR2c.167G= (p.Gly56=)
c.92G= (p.Gly31=)
n.74G=
2g.202464899G>TCA350399311BMPR2c.167G>T (p.Gly56Val)
c.92G>T (p.Gly31Val)
n.74G>T
2g.202464900G>ACA430903623BMPR2c.168G>A (p.Gly56=)
c.93G>A (p.Gly31=)
n.75G>A
 dbSNP gnomAD v4
2g.202464900G>CCA430903624BMPR2c.168G>C (p.Gly56=)
c.93G>C (p.Gly31=)
n.75G>C
2g.202464900G=CA1321507665BMPR2c.168G= (p.Gly56=)
c.93G= (p.Gly31=)
n.75G=
2g.202464900G>TCA430903625BMPR2c.168G>T (p.Gly56=)
c.93G>T (p.Gly31=)
n.75G>T
2g.202464901A>CCA350399312BMPR2c.169A>C (p.Thr57Pro)
c.94A>C (p.Thr32Pro)
n.76A>C
2g.202464901A>GCA350399313BMPR2c.169A>G (p.Thr57Ala)
c.94A>G (p.Thr32Ala)
n.76A>G
2g.202464901A>TCA350399314BMPR2c.169A>T (p.Thr57Ser)
c.94A>T (p.Thr32Ser)
n.76A>T
2g.202464902C>ACA350399317BMPR2c.170C>A (p.Thr57Lys)
c.95C>A (p.Thr32Lys)
n.77C>A
2g.202464902C>GCA350399316BMPR2c.170C>G (p.Thr57Arg)
c.95C>G (p.Thr32Arg)
n.77C>G
2g.202464902C>TCA350399315BMPR2c.170C>T (p.Thr57Ile)
c.95C>T (p.Thr32Ile)
n.77C>T
2g.202464903A=CA1321507670BMPR2c.171A= (p.Thr57=)
c.96A= (p.Thr32=)
n.78A=
2g.202464903A>CCA430903626BMPR2c.171A>C (p.Thr57=)
c.96A>C (p.Thr32=)
n.78A>C
2g.202464903A>GCA430903627BMPR2c.171A>G (p.Thr57=)
c.96A>G (p.Thr32=)
n.78A>G
2g.202464903A>TCA430903628BMPR2c.171A>T (p.Thr57=)
c.96A>T (p.Thr32=)
n.78A>T
 dbSNP gnomAD v2 gnomAD v4
2g.202464904_202464906delCA2739279831BMPR2c.172_174del (p.Ile58del)
c.97_99del (p.Ile33del)
n.79_81del
 ClinVar
2g.202464904A=CA1321507676BMPR2c.172A= (p.Ile58=)
c.97A= (p.Ile33=)
n.79A=
2g.202464904A>CCA350399318BMPR2c.172A>C (p.Ile58Leu)
c.97A>C (p.Ile33Leu)
n.79A>C
2g.202464904A>GCA350399319BMPR2c.172A>G (p.Ile58Val)
c.97A>G (p.Ile33Val)
n.79A>G
 dbSNP
2g.202464904A>TCA350399320BMPR2c.172A>T (p.Ile58Leu)
c.97A>T (p.Ile33Leu)
n.79A>T
2g.202464906_202464907dupCA10587992BMPR2c.174_175dup (p.Leu59TyrfsTer20)
c.99_100dup (p.Leu34TyrfsTer20)
n.81_82dup
 ClinVar dbSNP
2g.202464905T>ACA350399321BMPR2c.173T>A (p.Ile58Lys)
c.98T>A (p.Ile33Lys)
n.80T>A
2g.202464905T>CCA350399322BMPR2c.173T>C (p.Ile58Thr)
c.98T>C (p.Ile33Thr)
n.80T>C
2g.202464905T>GCA350399323BMPR2c.173T>G (p.Ile58Arg)
c.98T>G (p.Ile33Arg)
n.80T>G
2g.202464908_202464910delCA2662703809BMPR2c.176_178del (p.Leu59del)
c.101_103del (p.Leu34del)
n.83_85del
 gnomAD v4
2g.202464906A=CA1321507679BMPR2c.174A= (p.Ile58=)
c.99A= (p.Ile33=)
n.81A=
2g.202464906A>CCA430903629BMPR2c.174A>C (p.Ile58=)
c.99A>C (p.Ile33=)
n.81A>C
2g.202464906A>GCA2061046BMPR2c.174A>G (p.Ile58Met)
c.99A>G (p.Ile33Met)
n.81A>G
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464906A>TCA430903630BMPR2c.174A>T (p.Ile58=)
c.99A>T (p.Ile33=)
n.81A>T
2g.202464907T>ACA350399324BMPR2c.175T>A (p.Leu59Ile)
c.100T>A (p.Leu34Ile)
n.82T>A
2g.202464907T>CCA430903631BMPR2c.175T>C (p.Leu59=)
c.100T>C (p.Leu34=)
n.82T>C
 ClinVar gnomAD v4
2g.202464907T>GCA350399325BMPR2c.175T>G (p.Leu59Val)
c.100T>G (p.Leu34Val)
n.82T>G
2g.202464908T>ACA350399326BMPR2c.176T>A (p.Leu59Ter)
c.101T>A (p.Leu34Ter)
n.83T>A
2g.202464908T>CCA350399327BMPR2c.176T>C (p.Leu59Ser)
c.101T>C (p.Leu34Ser)
n.83T>C
2g.202464908T>GCA350399328BMPR2c.176T>G (p.Leu59Ter)
c.101T>G (p.Leu34Ter)
n.83T>G
2g.202464909A>CCA350399329BMPR2c.177A>C (p.Leu59Phe)
c.102A>C (p.Leu34Phe)
n.84A>C
2g.202464909A>GCA430903632BMPR2c.177A>G (p.Leu59=)
c.102A>G (p.Leu34=)
n.84A>G
2g.202464909A>TCA350399330BMPR2c.177A>T (p.Leu59Phe)
c.102A>T (p.Leu34Phe)
n.84A>T
2g.202464910T>ACA350399331BMPR2c.178T>A (p.Cys60Ser)
c.103T>A (p.Cys35Ser)
n.85T>A
2g.202464910T>CCA350399332BMPR2c.178T>C (p.Cys60Arg)
c.103T>C (p.Cys35Arg)
n.85T>C
 ClinVar dbSNP
2g.202464910T>GCA350399333BMPR2c.178T>G (p.Cys60Gly)
c.103T>G (p.Cys35Gly)
n.85T>G
 ClinVar dbSNP
2g.202464910T=CA1321507683BMPR2c.178T= (p.Cys60=)
c.103T= (p.Cys35=)
n.85T=
2g.202464911G>ACA350399334BMPR2c.179G>A (p.Cys60Tyr)
c.104G>A (p.Cys35Tyr)
n.86G>A
 ClinVar dbSNP
2g.202464911G>CCA350399335BMPR2c.179G>C (p.Cys60Ser)
c.104G>C (p.Cys35Ser)
n.86G>C
2g.202464911G=CA1321507687BMPR2c.179G= (p.Cys60=)
c.104G= (p.Cys35=)
n.86G=
2g.202464911G>TCA350399336BMPR2c.179G>T (p.Cys60Phe)
c.104G>T (p.Cys35Phe)
n.86G>T
 ClinVar dbSNP
2g.202464912C>ACA350399337BMPR2c.180C>A (p.Cys60Ter)
c.105C>A (p.Cys35Ter)
n.87C>A
 COSMIC
2g.202464912C>GCA350399338BMPR2c.180C>G (p.Cys60Trp)
c.105C>G (p.Cys35Trp)
n.87C>G
2g.202464912C>TCA430903633BMPR2c.180C>T (p.Cys60=)
c.105C>T (p.Cys35=)
n.87C>T
 ClinVar dbSNP gnomAD v4
2g.202464912_202464914delCA2586965531BMPR2c.180_182del (p.Cys60_Ser61delinsTrp)
c.105_107del (p.Cys35_Ser36delinsTrp)
n.87_89del
2g.202464913T>ACA350399339BMPR2c.181T>A (p.Ser61Thr)
c.106T>A (p.Ser36Thr)
n.88T>A
 COSMIC
2g.202464913T>CCA350399341BMPR2c.181T>C (p.Ser61Pro)
c.106T>C (p.Ser36Pro)
n.88T>C
 dbSNP gnomAD v3 gnomAD v4
2g.202464913T>GCA350399340BMPR2c.181T>G (p.Ser61Ala)
c.106T>G (p.Ser36Ala)
n.88T>G
2g.202464913T=CA1321507692BMPR2c.181T= (p.Ser61=)
c.106T= (p.Ser36=)
n.88T=
2g.202464914C>ACA350399342BMPR2c.182C>A (p.Ser61Ter)
c.107C>A (p.Ser36Ter)
n.89C>A
2g.202464914C=CA1321507694BMPR2c.182C= (p.Ser61=)
c.107C= (p.Ser36=)
n.89C=
2g.202464914C>GCA350399343BMPR2c.182C>G (p.Ser61Trp)
c.107C>G (p.Ser36Trp)
n.89C>G
 gnomAD v4
2g.202464914C>TCA350399344BMPR2c.182C>T (p.Ser61Leu)
c.107C>T (p.Ser36Leu)
n.89C>T
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202464915G>ACA2061047BMPR2c.183G>A (p.Ser61=)
c.108G>A (p.Ser36=)
n.90G>A
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464915G>CCA430903634BMPR2c.183G>C (p.Ser61=)
c.108G>C (p.Ser36=)
n.90G>C
2g.202464915G=CA1321507696BMPR2c.183G= (p.Ser61=)
c.108G= (p.Ser36=)
n.90G=
2g.202464915G>TCA430903635BMPR2c.183G>T (p.Ser61=)
c.108G>T (p.Ser36=)
n.90G>T
 gnomAD v4
2g.202464916A=CA1321507704BMPR2c.184A= (p.Lys62=)
c.109A= (p.Lys37=)
n.91A=
2g.202464916A>CCA350399345BMPR2c.184A>C (p.Lys62Gln)
c.109A>C (p.Lys37Gln)
n.91A>C
2g.202464916A>GCA350399347BMPR2c.184A>G (p.Lys62Glu)
c.109A>G (p.Lys37Glu)
n.91A>G
 dbSNP gnomAD v3 gnomAD v4
2g.202464916A>TCA350399346BMPR2c.184A>T (p.Lys62Ter)
c.109A>T (p.Lys37Ter)
n.91A>T
2g.202464918dupCA322535BMPR2c.186dup (p.Gly63ArgfsTer2)
c.111dup (p.Gly38ArgfsTer2)
n.93dup
 ClinVar dbSNP
2g.202464917A>CCA350399348BMPR2c.185A>C (p.Lys62Thr)
c.110A>C (p.Lys37Thr)
n.92A>C
 gnomAD v4
2g.202464917A>GCA350399349BMPR2c.185A>G (p.Lys62Arg)
c.110A>G (p.Lys37Arg)
n.92A>G
2g.202464917A>TCA350399350BMPR2c.185A>T (p.Lys62Ile)
c.110A>T (p.Lys37Ile)
n.92A>T
2g.202464918A=CA1321507706BMPR2c.186A= (p.Lys62=)
c.111A= (p.Lys37=)
n.93A=
2g.202464918A>CCA350399351BMPR2c.186A>C (p.Lys62Asn)
c.111A>C (p.Lys37Asn)
n.93A>C
2g.202464918A>GCA430903636BMPR2c.186A>G (p.Lys62=)
c.111A>G (p.Lys37=)
n.93A>G
2g.202464918A>TCA350399352BMPR2c.186A>T (p.Lys62Asn)
c.111A>T (p.Lys37Asn)
n.93A>T
2g.202464918_202464919insTACCCA645293993BMPR2c.186_187insTACC (p.Gly63TyrfsTer3)
c.111_112insTACC (p.Gly38TyrfsTer3)
n.93_94insTACC
 ClinVar dbSNP
2g.202464919G>ACA350399353BMPR2c.187G>A (p.Gly63Ser)
c.112G>A (p.Gly38Ser)
n.94G>A
2g.202464919G>CCA2061048BMPR2c.187G>C (p.Gly63Arg)
c.112G>C (p.Gly38Arg)
n.94G>C
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202464919G=CA1321507712BMPR2c.187G= (p.Gly63=)
c.112G= (p.Gly38=)
n.94G=
2g.202464919G>TCA350399354BMPR2c.187G>T (p.Gly63Cys)
c.112G>T (p.Gly38Cys)
n.94G>T
2g.202464919_202464940delinsGGTAGCACCTGCTATGGCCTTTCA1321507710BMPR2c.187_208delinsGGTAGCACCTGCTATGGCCTTT (p.Gly63=)
c.112_133delinsGGTAGCACCTGCTATGGCCTTT (p.Gly38=)
n.94_115delinsGGTAGCACCTGCTATGGCCTTT
2g.202464920G>ACA350399355BMPR2c.188G>A (p.Gly63Asp)
c.113G>A (p.Gly38Asp)
n.95G>A
2g.202464920G>CCA350399356BMPR2c.188G>C (p.Gly63Ala)
c.113G>C (p.Gly38Ala)
n.95G>C
2g.202464920G>TCA350399357BMPR2c.188G>T (p.Gly63Val)
c.113G>T (p.Gly38Val)
n.95G>T
2g.202464920_202464939delinsGTAGCACCTGCTATGGCCTTCA1321507720BMPR2c.188_207delinsGTAGCACCTGCTATGGCCTT (p.Gly63=)
c.113_132delinsGTAGCACCTGCTATGGCCTT (p.Gly38=)
n.95_114delinsGTAGCACCTGCTATGGCCTT
2g.202464921_202464941delCA645293994BMPR2c.189_209del (p.Ser64_Trp70del)
c.114_134del (p.Ser39_Trp45del)
n.96_116del
 ClinVar dbSNP
2g.202464921T>ACA430903637BMPR2c.189T>A (p.Gly63=)
c.114T>A (p.Gly38=)
n.96T>A
2g.202464921T>CCA430903638BMPR2c.189T>C (p.Gly63=)
c.114T>C (p.Gly38=)
n.96T>C
2g.202464921T>GCA430903639BMPR2c.189T>G (p.Gly63=)
c.114T>G (p.Gly38=)
n.96T>G
2g.202464921dupCA2580065450BMPR2c.189dup (p.Ser64Ter)
c.114dup (p.Ser39Ter)
n.96dup
 ClinVar
2g.202464921_202464939delinsGGAGCATAATCAAACA645293995BMPR2c.189_207delinsGGAGCATAATCAAA (p.Ser64GlufsTer32)
c.114_132delinsGGAGCATAATCAAA (p.Ser39GlufsTer34)
n.96_114delinsGGAGCATAATCAAA
 ClinVar dbSNP
2g.202464922A=CA1321507728BMPR2c.190A= (p.Ser64=)
c.115A= (p.Ser39=)
n.97A=
2g.202464922A>CCA350399358BMPR2c.190A>C (p.Ser64Arg)
c.115A>C (p.Ser39Arg)
n.97A>C
2g.202464922A>GCA350399360BMPR2c.190A>G (p.Ser64Gly)
c.115A>G (p.Ser39Gly)
n.97A>G
 dbSNP gnomAD v4
2g.202464922A>TCA350399359BMPR2c.190A>T (p.Ser64Cys)
c.115A>T (p.Ser39Cys)
n.97A>T
2g.202464923G>ACA350399361BMPR2c.191G>A (p.Ser64Asn)
c.116G>A (p.Ser39Asn)
n.98G>A
 gnomAD v4
2g.202464923G>CCA350399363BMPR2c.191G>C (p.Ser64Thr)
c.116G>C (p.Ser39Thr)
n.98G>C
2g.202464923G=CA1321507729BMPR2c.191G= (p.Ser64=)
c.116G= (p.Ser39=)
n.98G=
2g.202464923G>TCA350399362BMPR2c.191G>T (p.Ser64Ile)
c.116G>T (p.Ser39Ile)
n.98G>T
 dbSNP gnomAD v4
2g.202464924C>ACA350399364BMPR2c.192C>A (p.Ser64Arg)
c.117C>A (p.Ser39Arg)
n.99C>A
2g.202464924C=CA1321507733BMPR2c.192C= (p.Ser64=)
c.117C= (p.Ser39=)
n.99C=
2g.202464924C>GCA350399365BMPR2c.192C>G (p.Ser64Arg)
c.117C>G (p.Ser39Arg)
n.99C>G
2g.202464924C>TCA2061049BMPR2c.192C>T (p.Ser64=)
c.117C>T (p.Ser39=)
n.99C>T
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202464925delCA645531964BMPR2c.193del (p.Thr65ProfsTer13)
c.118del (p.Thr40ProfsTer13)
n.100del
 COSMIC
2g.202464925A>CCA350399366BMPR2c.193A>C (p.Thr65Pro)
c.118A>C (p.Thr40Pro)
n.100A>C
2g.202464925A>GCA350399367BMPR2c.193A>G (p.Thr65Ala)
c.118A>G (p.Thr40Ala)
n.100A>G
2g.202464925A>TCA350399368BMPR2c.193A>T (p.Thr65Ser)
c.118A>T (p.Thr40Ser)
n.100A>T
2g.202464926C>ACA350399369BMPR2c.194C>A (p.Thr65Asn)
c.119C>A (p.Thr40Asn)
n.101C>A
2g.202464926C=CA1321507737BMPR2c.194C= (p.Thr65=)
c.119C= (p.Thr40=)
n.101C=
2g.202464926C>GCA350399370BMPR2c.194C>G (p.Thr65Ser)
c.119C>G (p.Thr40Ser)
n.101C>G
 dbSNP gnomAD v2
2g.202464926C>TCA350399371BMPR2c.194C>T (p.Thr65Ile)
c.119C>T (p.Thr40Ile)
n.101C>T
 gnomAD v4
2g.202464927C>ACA430903640BMPR2c.195C>A (p.Thr65=)
c.120C>A (p.Thr40=)
n.102C>A
2g.202464927C>GCA430903641BMPR2c.195C>G (p.Thr65=)
c.120C>G (p.Thr40=)
n.102C>G
2g.202464927C>TCA430903642BMPR2c.195C>T (p.Thr65=)
c.120C>T (p.Thr40=)
n.102C>T
2g.202464928T>ACA350399372BMPR2c.196T>A (p.Cys66Ser)
c.121T>A (p.Cys41Ser)
n.103T>A
2g.202464928T>CCA350399373BMPR2c.196T>C (p.Cys66Arg)
c.121T>C (p.Cys41Arg)
n.103T>C
 ClinVar dbSNP
2g.202464928T>GCA350399374BMPR2c.196T>G (p.Cys66Gly)
c.121T>G (p.Cys41Gly)
n.103T>G
 ClinVar dbSNP
2g.202464928T=CA1321507742BMPR2c.196T= (p.Cys66=)
c.121T= (p.Cys41=)
n.103T=
2g.202464929G>ACA350399375BMPR2c.197G>A (p.Cys66Tyr)
c.122G>A (p.Cys41Tyr)
n.104G>A
 ClinVar dbSNP
2g.202464929G>CCA350399377BMPR2c.197G>C (p.Cys66Ser)
c.122G>C (p.Cys41Ser)
n.104G>C
2g.202464929G=CA1321507747BMPR2c.197G= (p.Cys66=)
c.122G= (p.Cys41=)
n.104G=
2g.202464929G>TCA350399376BMPR2c.197G>T (p.Cys66Phe)
c.122G>T (p.Cys41Phe)
n.104G>T
2g.202464930C>ACA350399378BMPR2c.198C>A (p.Cys66Ter)
c.123C>A (p.Cys41Ter)
n.105C>A
2g.202464930C=CA1321507752BMPR2c.198C= (p.Cys66=)
c.123C= (p.Cys41=)
n.105C=
2g.202464930C>GCA350399379BMPR2c.198C>G (p.Cys66Trp)
c.123C>G (p.Cys41Trp)
n.105C>G
2g.202464930C>TCA430903643BMPR2c.198C>T (p.Cys66=)
c.123C>T (p.Cys41=)
n.105C>T
 ClinVar dbSNP
2g.202464931T>ACA350399380BMPR2c.199T>A (p.Tyr67Asn)
c.124T>A (p.Tyr42Asn)
n.106T>A
2g.202464931T>CCA350399381BMPR2c.199T>C (p.Tyr67His)
c.124T>C (p.Tyr42His)
n.106T>C
 ClinVar dbSNP
2g.202464931T>GCA350399382BMPR2c.199T>G (p.Tyr67Asp)
c.124T>G (p.Tyr42Asp)
n.106T>G
2g.202464931T=CA1321507757BMPR2c.199T= (p.Tyr67=)
c.124T= (p.Tyr42=)
n.106T=
2g.202464931dupCA2586965533BMPR2c.199dup (p.Tyr67LeufsTer?)
c.124dup (p.Tyr42LeufsTer?)
n.106dup

Number of alleles fetched