Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202461237_202467808delCA915941492BMPR2c.77-3572_418+119del
ClinVar
2g.202465115_202467788delCA915941495BMPR2c.247+136_418+99del
c.176+132_349+99del
n.154+136_325+99del
ClinVar
2g.202465783_202470694delCA915941496BMPR2c.247+804_418+3005del
c.176+800_349+3005del
n.154+804_325+3005del
ClinVar
2g.202466926_202467684delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACCCA1321509919BMPR2c.248-593_413delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
c.177-127_344delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
n.155-593_320delinsATTTGGTATAGACAAAAATGAAACCTTACTCTTGCTTTAATAATTCTTCGATTAGCTGGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACCTGAGCTCAGGAGTTTGAGACCGGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGCATGGTGGTGGCACATGCCTGTAATCCCAGCTACTCGGGAGGCTAAGGTAGGAGAATCGCTTGAACCCGGGAGGTGGAGATTGCAGTGAGCTGAGATCGTGCCATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCGCCTCAATAAATAAATAAATAATTCTTAGATTAATCATGCAGTTAAACCTTTTTTGGTGGCCTTTTCCCCCCCATGAAATGTCTTTGGTATCCTTTACCATTTTTCTGTTTCTTAAAAATATGTTTCCTGTTGATTTGCAAAACTGTTTCATAGCTTACACGTACTCTCACATTTATTGAAATTACTGCTTAGTTTGTTGTTTTTCTCTTAGTTTTCTTTATCATATTGTCTCCTTTTTTGTATTCATATTGATTTATAGGATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTAGTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACAGATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACC
2g.202466927_202467684delinsGTAAAGTACA645293853BMPR2c.248-592_413delinsGTAAAGTA
c.177-126_344delinsGTAAAGTA
n.155-592_320delinsGTAAAGTA
ClinVar dbSNP
2g.202467524T>ACA350399515BMPR2c.253T>A (p.Trp85Arg)
c.184T>A (p.Trp62Arg)
n.160T>A
2g.202467524T>CCA350399517BMPR2c.253T>C (p.Trp85Arg)
c.184T>C (p.Trp62Arg)
n.160T>C
ClinVar
2g.202467524T>GCA350399516BMPR2c.253T>G (p.Trp85Gly)
c.184T>G (p.Trp62Gly)
n.160T>G
2g.202467525G>ACA350399518BMPR2c.254G>A (p.Trp85Ter)
c.185G>A (p.Trp62Ter)
n.161G>A
ClinVar
2g.202467525G>CCA350399519BMPR2c.254G>C (p.Trp85Ser)
c.185G>C (p.Trp62Ser)
n.161G>C
2g.202467525G=CA1321510397BMPR2c.254G= (p.Trp85=)
c.185G= (p.Trp62=)
n.161G=
2g.202467525G>TCA64532510BMPR2c.254G>T (p.Trp85Leu)
c.185G>T (p.Trp62Leu)
n.161G>T
dbSNP
2g.202467526G>ACA350399520BMPR2c.255G>A (p.Trp85Ter)
c.186G>A (p.Trp62Ter)
n.162G>A
ClinVar dbSNP
2g.202467526G>CCA350399522BMPR2c.255G>C (p.Trp85Cys)
c.186G>C (p.Trp62Cys)
n.162G>C
2g.202467526G=CA1321510402BMPR2c.255G= (p.Trp85=)
c.186G= (p.Trp62=)
n.162G=
2g.202467526G>TCA350399521BMPR2c.255G>T (p.Trp85Cys)
c.186G>T (p.Trp62Cys)
n.162G>T
2g.202467527T>ACA350399523BMPR2c.256T>A (p.Ser86Thr)
c.187T>A (p.Ser63Thr)
n.163T>A
gnomAD v4
2g.202467527T>CCA350399525BMPR2c.256T>C (p.Ser86Pro)
c.187T>C (p.Ser63Pro)
n.163T>C
gnomAD v4
2g.202467527T>GCA350399524BMPR2c.256T>G (p.Ser86Ala)
c.187T>G (p.Ser63Ala)
n.163T>G
2g.202467528C>ACA350399526BMPR2c.257C>A (p.Ser86Tyr)
c.188C>A (p.Ser63Tyr)
n.164C>A
gnomAD v4
2g.202467528C>GCA350399527BMPR2c.257C>G (p.Ser86Cys)
c.188C>G (p.Ser63Cys)
n.164C>G
2g.202467528C>TCA350399528BMPR2c.257C>T (p.Ser86Phe)
c.188C>T (p.Ser63Phe)
n.164C>T
2g.202467529delCA2586965545BMPR2c.258del (p.His87ThrfsTer14)
c.189del (p.His64ThrfsTer14)
n.165del
2g.202467529T>ACA430903784BMPR2c.258T>A (p.Ser86=)
c.189T>A (p.Ser63=)
n.165T>A
gnomAD v4
2g.202467529T>CCA430903785BMPR2c.258T>C (p.Ser86=)
c.189T>C (p.Ser63=)
n.165T>C
2g.202467529T>GCA430903786BMPR2c.258T>G (p.Ser86=)
c.189T>G (p.Ser63=)
n.165T>G
2g.202467530C>ACA350399529BMPR2c.259C>A (p.His87Asn)
c.190C>A (p.His64Asn)
n.166C>A
gnomAD v4
2g.202467530C=CA1321510407BMPR2c.259C= (p.His87=)
c.190C= (p.His64=)
n.166C=
2g.202467530C>GCA350399530BMPR2c.259C>G (p.His87Asp)
c.190C>G (p.His64Asp)
n.166C>G
2g.202467530C>TCA350399531BMPR2c.259C>T (p.His87Tyr)
c.190C>T (p.His64Tyr)
n.166C>T
2g.202467531A=CA1321510414BMPR2c.260A= (p.His87=)
c.191A= (p.His64=)
n.167A=
2g.202467531A>CCA350399532BMPR2c.260A>C (p.His87Pro)
c.191A>C (p.His64Pro)
n.167A>C
2g.202467531A>GCA350399533BMPR2c.260A>G (p.His87Arg)
c.191A>G (p.His64Arg)
n.167A>G
dbSNP gnomAD v4
2g.202467531A>TCA350399534BMPR2c.260A>T (p.His87Leu)
c.191A>T (p.His64Leu)
n.167A>T
2g.202467531dupCA645294006BMPR2c.260dup (p.His87GlnfsTer11)
c.191dup (p.His64GlnfsTer11)
n.167dup
ClinVar dbSNP
2g.202467532C>ACA350399535BMPR2c.261C>A (p.His87Gln)
c.192C>A (p.His64Gln)
n.168C>A
gnomAD v4
2g.202467532C=CA1321510418BMPR2c.261C= (p.His87=)
c.192C= (p.His64=)
n.168C=
2g.202467532C>GCA350399536BMPR2c.261C>G (p.His87Gln)
c.192C>G (p.His64Gln)
n.168C>G
2g.202467532C>TCA430903787BMPR2c.261C>T (p.His87=)
c.192C>T (p.His64=)
n.168C>T
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202467533A>CCA350399539BMPR2c.262A>C (p.Ile88Leu)
c.193A>C (p.Ile65Leu)
n.169A>C
2g.202467533A>GCA350399537BMPR2c.262A>G (p.Ile88Val)
c.193A>G (p.Ile65Val)
n.169A>G
2g.202467533A>TCA350399538BMPR2c.262A>T (p.Ile88Phe)
c.193A>T (p.Ile65Phe)
n.169A>T
2g.202467534T>ACA350399540BMPR2c.263T>A (p.Ile88Asn)
c.194T>A (p.Ile65Asn)
n.170T>A
2g.202467534T>CCA350399541BMPR2c.263T>C (p.Ile88Thr)
c.194T>C (p.Ile65Thr)
n.170T>C
dbSNP gnomAD v2 gnomAD v4
2g.202467534T>GCA350399542BMPR2c.263T>G (p.Ile88Ser)
c.194T>G (p.Ile65Ser)
n.170T>G
2g.202467534T=CA1321510421BMPR2c.263T= (p.Ile88=)
c.194T= (p.Ile65=)
n.170T=
2g.202467535T>ACA430903789BMPR2c.264T>A (p.Ile88=)
c.195T>A (p.Ile65=)
n.171T>A
2g.202467535T>CCA430903788BMPR2c.264T>C (p.Ile88=)
c.195T>C (p.Ile65=)
n.171T>C
2g.202467535T>GCA350399543BMPR2c.264T>G (p.Ile88Met)
c.195T>G (p.Ile65Met)
n.171T>G
2g.202467536G>ACA350399544BMPR2c.265G>A (p.Gly89Arg)
c.196G>A (p.Gly66Arg)
n.172G>A
2g.202467536G>CCA350399545BMPR2c.265G>C (p.Gly89Arg)
c.196G>C (p.Gly66Arg)
n.172G>C
2g.202467536G>TCA350399546BMPR2c.265G>T (p.Gly89Ter)
c.196G>T (p.Gly66Ter)
n.172G>T
2g.202467537G>ACA350399547BMPR2c.266G>A (p.Gly89Glu)
c.197G>A (p.Gly66Glu)
n.173G>A
2g.202467537G>CCA350399548BMPR2c.266G>C (p.Gly89Ala)
c.197G>C (p.Gly66Ala)
n.173G>C
ClinVar dbSNP
2g.202467537G=CA1321510423BMPR2c.266G= (p.Gly89=)
c.197G= (p.Gly66=)
n.173G=
2g.202467537G>TCA350399549BMPR2c.266G>T (p.Gly89Val)
c.197G>T (p.Gly66Val)
n.173G>T
2g.202467538A>CCA430903791BMPR2c.267A>C (p.Gly89=)
c.198A>C (p.Gly66=)
n.174A>C
gnomAD v4
2g.202467538A>GCA430903792BMPR2c.267A>G (p.Gly89=)
c.198A>G (p.Gly66=)
n.174A>G
gnomAD v4
2g.202467538A>TCA430903790BMPR2c.267A>T (p.Gly89=)
c.198A>T (p.Gly66=)
n.174A>T
2g.202467539G>ACA350399551BMPR2c.268G>A (p.Asp90Asn)
c.199G>A (p.Asp67Asn)
n.175G>A
dbSNP gnomAD v3 gnomAD v4
2g.202467539G>CCA350399552BMPR2c.268G>C (p.Asp90His)
c.199G>C (p.Asp67His)
n.175G>C
COSMIC
2g.202467539G=CA1321510427BMPR2c.268G= (p.Asp90=)
c.199G= (p.Asp67=)
n.175G=
2g.202467539G>TCA350399550BMPR2c.268G>T (p.Asp90Tyr)
c.199G>T (p.Asp67Tyr)
n.175G>T
2g.202467540A=CA1321510429BMPR2c.269A= (p.Asp90=)
c.200A= (p.Asp67=)
n.176A=
2g.202467540A>CCA350399553BMPR2c.269A>C (p.Asp90Ala)
c.200A>C (p.Asp67Ala)
n.176A>C
2g.202467540A>GCA350399554BMPR2c.269A>G (p.Asp90Gly)
c.200A>G (p.Asp67Gly)
n.176A>G
2g.202467540A>TCA350399555BMPR2c.269A>T (p.Asp90Val)
c.200A>T (p.Asp67Val)
n.176A>T
2g.202467541T>ACA350399556BMPR2c.270T>A (p.Asp90Glu)
c.201T>A (p.Asp67Glu)
n.177T>A
2g.202467541T>CCA430903793BMPR2c.270T>C (p.Asp90=)
c.201T>C (p.Asp67=)
n.177T>C
2g.202467541T>GCA350399557BMPR2c.270T>G (p.Asp90Glu)
c.201T>G (p.Asp67Glu)
n.177T>G
2g.202467541dupCA915941497BMPR2c.270dup (p.Pro91SerfsTer7)
c.201dup (p.Pro68SerfsTer7)
n.177dup
2g.202467541_202467542delinsTCCA1321510436BMPR2c.270_271delinsTC (p.Asp90=)
c.201_202delinsTC (p.Asp67=)
n.177_178delinsTC
2g.202467542C>ACA350399558BMPR2c.271C>A (p.Pro91Thr)
c.202C>A (p.Pro68Thr)
n.178C>A
dbSNP gnomAD v4
2g.202467542C=CA1321510444BMPR2c.271C= (p.Pro91=)
c.202C= (p.Pro68=)
n.178C=
2g.202467542C>GCA350399559BMPR2c.271C>G (p.Pro91Ala)
c.202C>G (p.Pro68Ala)
n.178C>G
2g.202467542C>TCA2061078BMPR2c.271C>T (p.Pro91Ser)
c.202C>T (p.Pro68Ser)
n.178C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467545delCA915941498BMPR2c.274del (p.Gln92LysfsTer9)
c.205del (p.Gln69LysfsTer9)
n.181del
ClinVar dbSNP
2g.202467543C>ACA350399560BMPR2c.272C>A (p.Pro91His)
c.203C>A (p.Pro68His)
n.179C>A
2g.202467543C=CA1321510454BMPR2c.272C= (p.Pro91=)
c.203C= (p.Pro68=)
n.179C=
2g.202467543C>GCA350399561BMPR2c.272C>G (p.Pro91Arg)
c.203C>G (p.Pro68Arg)
n.179C>G
gnomAD v4
2g.202467543C>TCA64532511BMPR2c.272C>T (p.Pro91Leu)
c.203C>T (p.Pro68Leu)
n.179C>T
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467544C>ACA430903796BMPR2c.273C>A (p.Pro91=)
c.204C>A (p.Pro68=)
n.180C>A
gnomAD v4
2g.202467544C=CA1321510457BMPR2c.273C= (p.Pro91=)
c.204C= (p.Pro68=)
n.180C=
2g.202467544C>GCA430903794BMPR2c.273C>G (p.Pro91=)
c.204C>G (p.Pro68=)
n.180C>G
dbSNP
2g.202467544C>TCA430903795BMPR2c.273C>T (p.Pro91=)
c.204C>T (p.Pro68=)
n.180C>T
dbSNP
2g.202467545C>ACA350399563BMPR2c.274C>A (p.Gln92Lys)
c.205C>A (p.Gln69Lys)
n.181C>A
gnomAD v4
2g.202467545C=CA1321510460BMPR2c.274C= (p.Gln92=)
c.205C= (p.Gln69=)
n.181C=
2g.202467545C>GCA350399564BMPR2c.274C>G (p.Gln92Glu)
c.205C>G (p.Gln69Glu)
n.181C>G
2g.202467545C>TCA350399562BMPR2c.274C>T (p.Gln92Ter)
c.205C>T (p.Gln69Ter)
n.181C>T
ClinVar dbSNP
2g.202467546A=CA1321510464BMPR2c.275A= (p.Gln92=)
c.206A= (p.Gln69=)
n.182A=
2g.202467546A>CCA2061079BMPR2c.275A>C (p.Gln92Pro)
c.206A>C (p.Gln69Pro)
n.182A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467546A>GCA350399565BMPR2c.275A>G (p.Gln92Arg)
c.206A>G (p.Gln69Arg)
n.182A>G
2g.202467546A>TCA350399566BMPR2c.275A>T (p.Gln92Leu)
c.206A>T (p.Gln69Leu)
n.182A>T
2g.202467547A=CA1321510469BMPR2c.276A= (p.Gln92=)
c.207A= (p.Gln69=)
n.183A=
2g.202467547A>CCA2061080BMPR2c.276A>C (p.Gln92His)
c.207A>C (p.Gln69His)
n.183A>C
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467547A>GCA430903797BMPR2c.276A>G (p.Gln92=)
c.207A>G (p.Gln69=)
n.183A>G
dbSNP gnomAD v2 gnomAD v4
2g.202467547A>TCA350399567BMPR2c.276A>T (p.Gln92His)
c.207A>T (p.Gln69His)
n.183A>T
2g.202467549_202467550delCA2586965547BMPR2c.278_279del (p.Glu93ValfsTer4)
c.209_210del (p.Glu70ValfsTer4)
n.185_186del
2g.202467548G>ACA350399570BMPR2c.277G>A (p.Glu93Lys)
c.208G>A (p.Glu70Lys)
n.184G>A
gnomAD v4
2g.202467548G>CCA350399568BMPR2c.277G>C (p.Glu93Gln)
c.208G>C (p.Glu70Gln)
n.184G>C
dbSNP gnomAD v4
2g.202467548G=CA1321510477BMPR2c.277G= (p.Glu93=)
c.208G= (p.Glu70=)
n.184G=
2g.202467548G>TCA350399569BMPR2c.277G>T (p.Glu93Ter)
c.208G>T (p.Glu70Ter)
n.184G>T
2g.202467548dupCA645294007BMPR2c.277dup (p.Glu93GlyfsTer5)
c.208dup (p.Glu70GlyfsTer5)
n.184dup
ClinVar dbSNP
2g.202467549A>CCA350399571BMPR2c.278A>C (p.Glu93Ala)
c.209A>C (p.Glu70Ala)
n.185A>C
2g.202467549A>GCA350399572BMPR2c.278A>G (p.Glu93Gly)
c.209A>G (p.Glu70Gly)
n.185A>G
2g.202467549A>TCA350399573BMPR2c.278A>T (p.Glu93Val)
c.209A>T (p.Glu70Val)
n.185A>T
gnomAD v4
2g.202467550G>ACA430903798BMPR2c.279G>A (p.Glu93=)
c.210G>A (p.Glu70=)
n.186G>A
dbSNP gnomAD v2 gnomAD v4
2g.202467550G>CCA350399574BMPR2c.279G>C (p.Glu93Asp)
c.210G>C (p.Glu70Asp)
n.186G>C
2g.202467550G=CA1321510481BMPR2c.279G= (p.Glu93=)
c.210G= (p.Glu70=)
n.186G=
2g.202467550G>TCA350399575BMPR2c.279G>T (p.Glu93Asp)
c.210G>T (p.Glu70Asp)
n.186G>T
2g.202467551T>ACA350399578BMPR2c.280T>A (p.Cys94Ser)
c.211T>A (p.Cys71Ser)
n.187T>A
2g.202467551T>CCA350399577BMPR2c.280T>C (p.Cys94Arg)
c.211T>C (p.Cys71Arg)
n.187T>C
ClinVar dbSNP
2g.202467551T>GCA350399576BMPR2c.280T>G (p.Cys94Gly)
c.211T>G (p.Cys71Gly)
n.187T>G
ClinVar dbSNP
2g.202467551T=CA1321510488BMPR2c.280T= (p.Cys94=)
c.211T= (p.Cys71=)
n.187T=
2g.202467552G>ACA350399579BMPR2c.281G>A (p.Cys94Tyr)
c.212G>A (p.Cys71Tyr)
n.188G>A
2g.202467552G>CCA350399581BMPR2c.281G>C (p.Cys94Ser)
c.212G>C (p.Cys71Ser)
n.188G>C
2g.202467552G>TCA350399580BMPR2c.281G>T (p.Cys94Phe)
c.212G>T (p.Cys71Phe)
n.188G>T
2g.202467553T>ACA350399582BMPR2c.282T>A (p.Cys94Ter)
c.213T>A (p.Cys71Ter)
n.189T>A
2g.202467553T>CCA430903799BMPR2c.282T>C (p.Cys94=)
c.213T>C (p.Cys71=)
n.189T>C
2g.202467553T>GCA350399583BMPR2c.282T>G (p.Cys94Trp)
c.213T>G (p.Cys71Trp)
n.189T>G
2g.202467554C>ACA350399584BMPR2c.283C>A (p.His95Asn)
c.214C>A (p.His72Asn)
n.190C>A
2g.202467554C>GCA350399585BMPR2c.283C>G (p.His95Asp)
c.214C>G (p.His72Asp)
n.190C>G
2g.202467554C>TCA350399586BMPR2c.283C>T (p.His95Tyr)
c.214C>T (p.His72Tyr)
n.190C>T
gnomAD v4
2g.202467555A>CCA350399587BMPR2c.284A>C (p.His95Pro)
c.215A>C (p.His72Pro)
n.191A>C
2g.202467555A>GCA350399588BMPR2c.284A>G (p.His95Arg)
c.215A>G (p.His72Arg)
n.191A>G
gnomAD v4
2g.202467555A>TCA350399589BMPR2c.284A>T (p.His95Leu)
c.215A>T (p.His72Leu)
n.191A>T
2g.202467556C>ACA350399590BMPR2c.285C>A (p.His95Gln)
c.216C>A (p.His72Gln)
n.192C>A
2g.202467556C>GCA350399591BMPR2c.285C>G (p.His95Gln)
c.216C>G (p.His72Gln)
n.192C>G
2g.202467556C>TCA430903800BMPR2c.285C>T (p.His95=)
c.216C>T (p.His72=)
n.192C>T
2g.202467557T>ACA350399593BMPR2c.286T>A (p.Tyr96Asn)
c.217T>A (p.Tyr73Asn)
n.193T>A
2g.202467557T>CCA2061081BMPR2c.286T>C (p.Tyr96His)
c.217T>C (p.Tyr73His)
n.193T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467557T>GCA350399592BMPR2c.286T>G (p.Tyr96Asp)
c.217T>G (p.Tyr73Asp)
n.193T>G
2g.202467557T=CA1321510495BMPR2c.286T= (p.Tyr96=)
c.217T= (p.Tyr73=)
n.193T=
2g.202467558_202467559delCA2586965550BMPR2c.287_288del (p.Tyr96Ter)
c.218_219del (p.Tyr73Ter)
n.194_195del
2g.202467558A=CA1321510498BMPR2c.287A= (p.Tyr96=)
c.218A= (p.Tyr73=)
n.194A=
2g.202467558A>CCA350399594BMPR2c.287A>C (p.Tyr96Ser)
c.218A>C (p.Tyr73Ser)
n.194A>C
2g.202467558A>GCA350399595BMPR2c.287A>G (p.Tyr96Cys)
c.218A>G (p.Tyr73Cys)
n.194A>G
dbSNP gnomAD v3 gnomAD v4
2g.202467558A>TCA350399596BMPR2c.287A>T (p.Tyr96Phe)
c.218A>T (p.Tyr73Phe)
n.194A>T
gnomAD v4
2g.202467559T>ACA350399597BMPR2c.288T>A (p.Tyr96Ter)
c.219T>A (p.Tyr73Ter)
n.195T>A
2g.202467559T>CCA2061082BMPR2c.288T>C (p.Tyr96=)
c.219T>C (p.Tyr73=)
n.195T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467559T>GCA350399598BMPR2c.288T>G (p.Tyr96Ter)
c.219T>G (p.Tyr73Ter)
n.195T>G
ClinVar dbSNP
2g.202467559T=CA1321510501BMPR2c.288T= (p.Tyr96=)
c.219T= (p.Tyr73=)
n.195T=
2g.202467560G>ACA350399599BMPR2c.289G>A (p.Glu97Lys)
c.220G>A (p.Glu74Lys)
n.196G>A
gnomAD v4
2g.202467560G>CCA350399600BMPR2c.289G>C (p.Glu97Gln)
c.220G>C (p.Glu74Gln)
n.196G>C
2g.202467560G>TCA350399601BMPR2c.289G>T (p.Glu97Ter)
c.220G>T (p.Glu74Ter)
n.196G>T
2g.202467561A>CCA350399602BMPR2c.290A>C (p.Glu97Ala)
c.221A>C (p.Glu74Ala)
n.197A>C
2g.202467561A>GCA350399603BMPR2c.290A>G (p.Glu97Gly)
c.221A>G (p.Glu74Gly)
n.197A>G
2g.202467561A>TCA350399604BMPR2c.290A>T (p.Glu97Val)
c.221A>T (p.Glu74Val)
n.197A>T
2g.202467562A>CCA350399606BMPR2c.291A>C (p.Glu97Asp)
c.222A>C (p.Glu74Asp)
n.198A>C
2g.202467562A>GCA430903802BMPR2c.291A>G (p.Glu97=)
c.222A>G (p.Glu74=)
n.198A>G
2g.202467562A>TCA350399605BMPR2c.291A>T (p.Glu97Asp)
c.222A>T (p.Glu74Asp)
n.198A>T
2g.202467563G>ACA350399607BMPR2c.292G>A (p.Glu98Lys)
c.223G>A (p.Glu75Lys)
n.199G>A
ClinVar dbSNP
2g.202467563G>CCA350399608BMPR2c.292G>C (p.Glu98Gln)
c.223G>C (p.Glu75Gln)
n.199G>C
2g.202467563G=CA1321510508BMPR2c.292G= (p.Glu98=)
c.223G= (p.Glu75=)
n.199G=
2g.202467563G>TCA350399609BMPR2c.292G>T (p.Glu98Ter)
c.223G>T (p.Glu75Ter)
n.199G>T
ClinVar dbSNP
2g.202467564A=CA1321510517BMPR2c.293A= (p.Glu98=)
c.224A= (p.Glu75=)
n.200A=
2g.202467564A>CCA350399610BMPR2c.293A>C (p.Glu98Ala)
c.224A>C (p.Glu75Ala)
n.200A>C
2g.202467564A>GCA2061083BMPR2c.293A>G (p.Glu98Gly)
c.224A>G (p.Glu75Gly)
n.200A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467564A>TCA350399611BMPR2c.293A>T (p.Glu98Val)
c.224A>T (p.Glu75Val)
n.200A>T
2g.202467565A=CA1321510519BMPR2c.294A= (p.Glu98=)
c.225A= (p.Glu75=)
n.201A=
2g.202467565A>CCA350399612BMPR2c.294A>C (p.Glu98Asp)
c.225A>C (p.Glu75Asp)
n.201A>C
2g.202467565A>GCA430903803BMPR2c.294A>G (p.Glu98=)
c.225A>G (p.Glu75=)
n.201A>G
dbSNP gnomAD v3 gnomAD v4
2g.202467565A>TCA350399613BMPR2c.294A>T (p.Glu98Asp)
c.225A>T (p.Glu75Asp)
n.201A>T
2g.202467566T>ACA350399614BMPR2c.295T>A (p.Cys99Ser)
c.226T>A (p.Cys76Ser)
n.202T>A
2g.202467566T>CCA320754BMPR2c.295T>C (p.Cys99Arg)
c.226T>C (p.Cys76Arg)
n.202T>C
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202467566T>GCA350399615BMPR2c.295T>G (p.Cys99Gly)
c.226T>G (p.Cys76Gly)
n.202T>G
2g.202467566T=CA1321510523BMPR2c.295T= (p.Cys99=)
c.226T= (p.Cys76=)
n.202T=
2g.202467567G>ACA350399616BMPR2c.296G>A (p.Cys99Tyr)
c.227G>A (p.Cys76Tyr)
n.203G>A
ClinVar dbSNP
2g.202467567G>CCA350399617BMPR2c.296G>C (p.Cys99Ser)
c.227G>C (p.Cys76Ser)
n.203G>C
2g.202467567G=CA1321510529BMPR2c.296G= (p.Cys99=)
c.227G= (p.Cys76=)
n.203G=
2g.202467567G>TCA350399618BMPR2c.296G>T (p.Cys99Phe)
c.227G>T (p.Cys76Phe)
n.203G>T
ClinVar dbSNP
2g.202467568T>ACA350399619BMPR2c.297T>A (p.Cys99Ter)
c.228T>A (p.Cys76Ter)
n.204T>A
2g.202467568T>CCA430903804BMPR2c.297T>C (p.Cys99=)
c.228T>C (p.Cys76=)
n.204T>C
2g.202467568T>GCA350399620BMPR2c.297T>G (p.Cys99Trp)
c.228T>G (p.Cys76Trp)
n.204T>G
ClinVar dbSNP
2g.202467569G>ACA350399621BMPR2c.298G>A (p.Val100Ile)
c.229G>A (p.Val77Ile)
n.205G>A
2g.202467569G>CCA350399622BMPR2c.298G>C (p.Val100Leu)
c.229G>C (p.Val77Leu)
n.205G>C
2g.202467569G>TCA350399623BMPR2c.298G>T (p.Val100Leu)
c.229G>T (p.Val77Leu)
n.205G>T
2g.202467570T>ACA350399624BMPR2c.299T>A (p.Val100Glu)
c.230T>A (p.Val77Glu)
n.206T>A
2g.202467570T>CCA350399625BMPR2c.299T>C (p.Val100Ala)
c.230T>C (p.Val77Ala)
n.206T>C
2g.202467570T>GCA350399626BMPR2c.299T>G (p.Val100Gly)
c.230T>G (p.Val77Gly)
n.206T>G
2g.202467571A>CCA430903805BMPR2c.300A>C (p.Val100=)
c.231A>C (p.Val77=)
n.207A>C
2g.202467571A>GCA430903807BMPR2c.300A>G (p.Val100=)
c.231A>G (p.Val77=)
n.207A>G
gnomAD v4
2g.202467571A>TCA430903808BMPR2c.300A>T (p.Val100=)
c.231A>T (p.Val77=)
n.207A>T
2g.202467572G>ACA350399627BMPR2c.301G>A (p.Val101Ile)
c.232G>A (p.Val78Ile)
n.208G>A
2g.202467572G>CCA350399628BMPR2c.301G>C (p.Val101Leu)
c.232G>C (p.Val78Leu)
n.208G>C
2g.202467572G>TCA350399629BMPR2c.301G>T (p.Val101Leu)
c.232G>T (p.Val78Leu)
n.208G>T
2g.202467573T>ACA350399630BMPR2c.302T>A (p.Val101Glu)
c.233T>A (p.Val78Glu)
n.209T>A
2g.202467573T>CCA2061084BMPR2c.302T>C (p.Val101Ala)
c.233T>C (p.Val78Ala)
n.209T>C
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467573T>GCA350399631BMPR2c.302T>G (p.Val101Gly)
c.233T>G (p.Val78Gly)
n.209T>G
2g.202467573T=CA1321510536BMPR2c.302T= (p.Val101=)
c.233T= (p.Val78=)
n.209T=
2g.202467574A>CCA430903810BMPR2c.303A>C (p.Val101=)
c.234A>C (p.Val78=)
n.210A>C
2g.202467574A>GCA430903811BMPR2c.303A>G (p.Val101=)
c.234A>G (p.Val78=)
n.210A>G
2g.202467574A>TCA430903812BMPR2c.303A>T (p.Val101=)
c.234A>T (p.Val78=)
n.210A>T
2g.202467574_202467577delinsAACTCA1321510538BMPR2c.303_306delinsAACT (p.Val101=)
c.234_237delinsAACT (p.Val78=)
n.210_213delinsAACT
2g.202467575A=CA1321510542BMPR2c.304A= (p.Thr102=)
c.235A= (p.Thr79=)
n.211A=
2g.202467575A>CCA350399633BMPR2c.304A>C (p.Thr102Pro)
c.235A>C (p.Thr79Pro)
n.211A>C
2g.202467575A>GCA350399632BMPR2c.304A>G (p.Thr102Ala)
c.235A>G (p.Thr79Ala)
n.211A>G
ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202467575A>TCA350399634BMPR2c.304A>T (p.Thr102Ser)
c.235A>T (p.Thr79Ser)
n.211A>T
2g.202467577_202467579delCA2061085BMPR2c.306_308del (p.Thr103del)
c.237_239del (p.Thr80del)
n.213_215del
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467576C>ACA350399637BMPR2c.305C>A (p.Thr102Asn)
c.236C>A (p.Thr79Asn)
n.212C>A
2g.202467576C>GCA350399635BMPR2c.305C>G (p.Thr102Ser)
c.236C>G (p.Thr79Ser)
n.212C>G
2g.202467576C>TCA350399636BMPR2c.305C>T (p.Thr102Ile)
c.236C>T (p.Thr79Ile)
n.212C>T
2g.202467577T>ACA430903814BMPR2c.306T>A (p.Thr102=)
c.237T>A (p.Thr79=)
n.213T>A
2g.202467577T>CCA430903815BMPR2c.306T>C (p.Thr102=)
c.237T>C (p.Thr79=)
n.213T>C
2g.202467577T>GCA430903816BMPR2c.306T>G (p.Thr102=)
c.237T>G (p.Thr79=)
n.213T>G
2g.202467578A=CA1321510545BMPR2c.307A= (p.Thr103=)
c.238A= (p.Thr80=)
n.214A=
2g.202467578A>CCA350399638BMPR2c.307A>C (p.Thr103Pro)
c.238A>C (p.Thr80Pro)
n.214A>C
2g.202467578A>GCA350399639BMPR2c.307A>G (p.Thr103Ala)
c.238A>G (p.Thr80Ala)
n.214A>G
dbSNP gnomAD v2 gnomAD v4
2g.202467578A>TCA350399640BMPR2c.307A>T (p.Thr103Ser)
c.238A>T (p.Thr80Ser)
n.214A>T
2g.202467579C>ACA350399642BMPR2c.308C>A (p.Thr103Asn)
c.239C>A (p.Thr80Asn)
n.215C>A
2g.202467579C=CA1321510550BMPR2c.308C= (p.Thr103=)
c.239C= (p.Thr80=)
n.215C=
2g.202467579C>GCA350399641BMPR2c.308C>G (p.Thr103Ser)
c.239C>G (p.Thr80Ser)
n.215C>G
gnomAD v4
2g.202467579C>TCA2061086BMPR2c.308C>T (p.Thr103Ile)
c.239C>T (p.Thr80Ile)
n.215C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467580C>ACA430903819BMPR2c.309C>A (p.Thr103=)
c.240C>A (p.Thr80=)
n.216C>A
2g.202467580C>GCA430903818BMPR2c.309C>G (p.Thr103=)
c.240C>G (p.Thr80=)
n.216C>G
2g.202467580C>TCA430903817BMPR2c.309C>T (p.Thr103=)
c.240C>T (p.Thr80=)
n.216C>T
2g.202467581A=CA1321510553BMPR2c.310A= (p.Thr104=)
c.241A= (p.Thr81=)
n.217A=
2g.202467581A>CCA2061087BMPR2c.310A>C (p.Thr104Pro)
c.241A>C (p.Thr81Pro)
n.217A>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467581A>GCA350399643BMPR2c.310A>G (p.Thr104Ala)
c.241A>G (p.Thr81Ala)
n.217A>G
gnomAD v4
2g.202467581A>TCA350399644BMPR2c.310A>T (p.Thr104Ser)
c.241A>T (p.Thr81Ser)
n.217A>T
gnomAD v4
2g.202467582C>ACA350399645BMPR2c.311C>A (p.Thr104Asn)
c.242C>A (p.Thr81Asn)
n.218C>A
2g.202467582C>GCA350399646BMPR2c.311C>G (p.Thr104Ser)
c.242C>G (p.Thr81Ser)
n.218C>G
gnomAD v4
2g.202467582C>TCA350399647BMPR2c.311C>T (p.Thr104Ile)
c.242C>T (p.Thr81Ile)
n.218C>T
2g.202467583T>ACA430903820BMPR2c.312T>A (p.Thr104=)
c.243T>A (p.Thr81=)
n.219T>A
dbSNP
2g.202467583T>CCA430903822BMPR2c.312T>C (p.Thr104=)
c.243T>C (p.Thr81=)
n.219T>C
2g.202467583T>GCA430903821BMPR2c.312T>G (p.Thr104=)
c.243T>G (p.Thr81=)
n.219T>G
gnomAD v4
2g.202467583T=CA1321510559BMPR2c.312T= (p.Thr104=)
c.243T= (p.Thr81=)
n.219T=
2g.202467583_202467584delinsTCCA1321510560BMPR2c.312_313delinsTC (p.Thr104=)
c.243_244delinsTC (p.Thr81=)
n.219_220delinsTC
2g.202467584C>ACA350399649BMPR2c.313C>A (p.Pro105Thr)
c.244C>A (p.Pro82Thr)
n.220C>A
2g.202467584C=CA1321510565BMPR2c.313C= (p.Pro105=)
c.244C= (p.Pro82=)
n.220C=
2g.202467584C>GCA2061088BMPR2c.313C>G (p.Pro105Ala)
c.244C>G (p.Pro82Ala)
n.220C>G
dbSNP ExAC gnomAD v2
2g.202467584C>TCA350399648BMPR2c.313C>T (p.Pro105Ser)
c.244C>T (p.Pro82Ser)
n.220C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467585delCA915941499BMPR2c.314del (p.Pro105LeufsTer?)
c.245del (p.Pro82LeufsTer?)
n.221del
ClinVar dbSNP gnomAD v4
2g.202467585C>ACA350399650BMPR2c.314C>A (p.Pro105His)
c.245C>A (p.Pro82His)
n.221C>A
2g.202467585C>GCA350399651BMPR2c.314C>G (p.Pro105Arg)
c.245C>G (p.Pro82Arg)
n.221C>G
2g.202467585C>TCA350399652BMPR2c.314C>T (p.Pro105Leu)
c.245C>T (p.Pro82Leu)
n.221C>T
2g.202467586T>ACA430903823BMPR2c.315T>A (p.Pro105=)
c.246T>A (p.Pro82=)
n.222T>A
2g.202467586T>CCA430903824BMPR2c.315T>C (p.Pro105=)
c.246T>C (p.Pro82=)
n.222T>C
2g.202467586T>GCA430903825BMPR2c.315T>G (p.Pro105=)
c.246T>G (p.Pro82=)
n.222T>G
2g.202467587C>ACA350399653BMPR2c.316C>A (p.Pro106Thr)
c.247C>A (p.Pro83Thr)
n.223C>A
2g.202467587C>GCA350399654BMPR2c.316C>G (p.Pro106Ala)
c.247C>G (p.Pro83Ala)
n.223C>G
2g.202467587C>TCA350399655BMPR2c.316C>T (p.Pro106Ser)
c.247C>T (p.Pro83Ser)
n.223C>T
gnomAD v4
2g.202467589delCA2577215519BMPR2c.318del (p.Ser107GlnfsTer?)
c.249del (p.Ser84GlnfsTer?)
n.225del
2g.202467588C>ACA350399656BMPR2c.317C>A (p.Pro106His)
c.248C>A (p.Pro83His)
n.224C>A
2g.202467588C=CA1321510569BMPR2c.317C= (p.Pro106=)
c.248C= (p.Pro83=)
n.224C=
2g.202467588C>GCA350399657BMPR2c.317C>G (p.Pro106Arg)
c.248C>G (p.Pro83Arg)
n.224C>G
2g.202467588C>TCA2061089BMPR2c.317C>T (p.Pro106Leu)
c.248C>T (p.Pro83Leu)
n.224C>T
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202467589C>ACA430903826BMPR2c.318C>A (p.Pro106=)
c.249C>A (p.Pro83=)
n.225C>A
gnomAD v4
2g.202467589C>GCA430903827BMPR2c.318C>G (p.Pro106=)
c.249C>G (p.Pro83=)
n.225C>G
2g.202467589C>TCA430903828BMPR2c.318C>T (p.Pro106=)
c.249C>T (p.Pro83=)
n.225C>T
2g.202467590T>ACA350399658BMPR2c.319T>A (p.Ser107Thr)
c.250T>A (p.Ser84Thr)
n.226T>A
2g.202467590T>CCA350399659BMPR2c.319T>C (p.Ser107Pro)
c.250T>C (p.Ser84Pro)
n.226T>C
ClinVar dbSNP
2g.202467590T>GCA350399660BMPR2c.319T>G (p.Ser107Ala)
c.250T>G (p.Ser84Ala)
n.226T>G
2g.202467590T=CA1321510573BMPR2c.319T= (p.Ser107=)
c.250T= (p.Ser84=)
n.226T=
2g.202467591C>ACA350399661BMPR2c.320C>A (p.Ser107Ter)
c.251C>A (p.Ser84Ter)
n.227C>A
ClinVar dbSNP gnomAD v4
2g.202467591C=CA1321510576BMPR2c.320C= (p.Ser107=)
c.251C= (p.Ser84=)
n.227C=
2g.202467591C>GCA350399663BMPR2c.320C>G (p.Ser107Ter)
c.251C>G (p.Ser84Ter)
n.227C>G
ClinVar dbSNP
2g.202467591C>TCA350399662BMPR2c.320C>T (p.Ser107Leu)
c.251C>T (p.Ser84Leu)
n.227C>T
dbSNP gnomAD v4
2g.202467592A>CCA430903829BMPR2c.321A>C (p.Ser107=)
c.252A>C (p.Ser84=)
n.228A>C
2g.202467592A>GCA430903830BMPR2c.321A>G (p.Ser107=)
c.252A>G (p.Ser84=)
n.228A>G
2g.202467592A>TCA430903831BMPR2c.321A>T (p.Ser107=)
c.252A>T (p.Ser84=)
n.228A>T
2g.202467593A=CA1321510579BMPR2c.322A= (p.Ile108=)
c.253A= (p.Ile85=)
n.229A=
2g.202467593A>CCA350399664BMPR2c.322A>C (p.Ile108Leu)
c.253A>C (p.Ile85Leu)
n.229A>C
2g.202467593A>GCA2061090BMPR2c.322A>G (p.Ile108Val)
c.253A>G (p.Ile85Val)
n.229A>G
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467593A>TCA350399665BMPR2c.322A>T (p.Ile108Phe)
c.253A>T (p.Ile85Phe)
n.229A>T
gnomAD v4
2g.202467594T>ACA350399666BMPR2c.323T>A (p.Ile108Asn)
c.254T>A (p.Ile85Asn)
n.230T>A
2g.202467594T>CCA2061091BMPR2c.323T>C (p.Ile108Thr)
c.254T>C (p.Ile85Thr)
n.230T>C
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467594T>GCA350399667BMPR2c.323T>G (p.Ile108Ser)
c.254T>G (p.Ile85Ser)
n.230T>G
2g.202467594T=CA1321510582BMPR2c.323T= (p.Ile108=)
c.254T= (p.Ile85=)
n.230T=
2g.202467595T>ACA430903832BMPR2c.324T>A (p.Ile108=)
c.255T>A (p.Ile85=)
n.231T>A
2g.202467595T>CCA430903833BMPR2c.324T>C (p.Ile108=)
c.255T>C (p.Ile85=)
n.231T>C
2g.202467595T>GCA350399668BMPR2c.324T>G (p.Ile108Met)
c.255T>G (p.Ile85Met)
n.231T>G
2g.202467596C>ACA350399669BMPR2c.325C>A (p.Gln109Lys)
c.256C>A (p.Gln86Lys)
n.232C>A
dbSNP
2g.202467596C=CA1321510585BMPR2c.325C= (p.Gln109=)
c.256C= (p.Gln86=)
n.232C=
2g.202467596C>GCA350399670BMPR2c.325C>G (p.Gln109Glu)
c.256C>G (p.Gln86Glu)
n.232C>G
2g.202467596C>TCA350399671BMPR2c.325C>T (p.Gln109Ter)
c.256C>T (p.Gln86Ter)
n.232C>T
2g.202467597A>CCA350399672BMPR2c.326A>C (p.Gln109Pro)
c.257A>C (p.Gln86Pro)
n.233A>C
2g.202467597A>GCA350399673BMPR2c.326A>G (p.Gln109Arg)
c.257A>G (p.Gln86Arg)
n.233A>G
2g.202467597A>TCA350399674BMPR2c.326A>T (p.Gln109Leu)
c.257A>T (p.Gln86Leu)
n.233A>T
2g.202467598G>ACA64532512BMPR2c.327G>A (p.Gln109=)
c.258G>A (p.Gln86=)
n.234G>A
ClinVar dbSNP gnomAD v3 gnomAD v4
2g.202467598G>CCA350399675BMPR2c.327G>C (p.Gln109His)
c.258G>C (p.Gln86His)
n.234G>C
2g.202467598G=CA1321510587BMPR2c.327G= (p.Gln109=)
c.258G= (p.Gln86=)
n.234G=
2g.202467598G>TCA350399676BMPR2c.327G>T (p.Gln109His)
c.258G>T (p.Gln86His)
n.234G>T
2g.202467599A>CCA350399677BMPR2c.328A>C (p.Asn110His)
c.259A>C (p.Asn87His)
n.235A>C
2g.202467599A>GCA350399678BMPR2c.328A>G (p.Asn110Asp)
c.259A>G (p.Asn87Asp)
n.235A>G
2g.202467599A>TCA350399679BMPR2c.328A>T (p.Asn110Tyr)
c.259A>T (p.Asn87Tyr)
n.235A>T
2g.202467600A=CA1321510592BMPR2c.329A= (p.Asn110=)
c.260A= (p.Asn87=)
n.236A=
2g.202467600A>CCA350399680BMPR2c.329A>C (p.Asn110Thr)
c.260A>C (p.Asn87Thr)
n.236A>C
2g.202467600A>GCA350399681BMPR2c.329A>G (p.Asn110Ser)
c.260A>G (p.Asn87Ser)
n.236A>G
dbSNP gnomAD v4
2g.202467600A>TCA350399682BMPR2c.329A>T (p.Asn110Ile)
c.260A>T (p.Asn87Ile)
n.236A>T
2g.202467601T>ACA350399683BMPR2c.330T>A (p.Asn110Lys)
c.261T>A (p.Asn87Lys)
n.237T>A
2g.202467601T>CCA430903834BMPR2c.330T>C (p.Asn110=)
c.261T>C (p.Asn87=)
n.237T>C
2g.202467601T>GCA350399684BMPR2c.330T>G (p.Asn110Lys)
c.261T>G (p.Asn87Lys)
n.237T>G
2g.202467602G>ACA350399685BMPR2c.331G>A (p.Gly111Arg)
c.262G>A (p.Gly88Arg)
n.238G>A
2g.202467602G>CCA350399686BMPR2c.331G>C (p.Gly111Arg)
c.262G>C (p.Gly88Arg)
n.238G>C
2g.202467602G>TCA350399687BMPR2c.331G>T (p.Gly111Ter)
c.262G>T (p.Gly88Ter)
n.238G>T
2g.202467603G>ACA350399689BMPR2c.332G>A (p.Gly111Glu)
c.263G>A (p.Gly88Glu)
n.239G>A
2g.202467603G>CCA350399690BMPR2c.332G>C (p.Gly111Ala)
c.263G>C (p.Gly88Ala)
n.239G>C
2g.202467603G=CA1321510596BMPR2c.332G= (p.Gly111=)
c.263G= (p.Gly88=)
n.239G=
2g.202467603G>TCA350399688BMPR2c.332G>T (p.Gly111Val)
c.263G>T (p.Gly88Val)
n.239G>T
dbSNP gnomAD v2
2g.202467604A>CCA430903835BMPR2c.333A>C (p.Gly111=)
c.264A>C (p.Gly88=)
n.240A>C
2g.202467604A>GCA430903836BMPR2c.333A>G (p.Gly111=)
c.264A>G (p.Gly88=)
n.240A>G
2g.202467604A>TCA430903837BMPR2c.333A>T (p.Gly111=)
c.264A>T (p.Gly88=)
n.240A>T
2g.202467605A>CCA350399693BMPR2c.334A>C (p.Thr112Pro)
c.265A>C (p.Thr89Pro)
n.241A>C
2g.202467605A>GCA350399691BMPR2c.334A>G (p.Thr112Ala)
c.265A>G (p.Thr89Ala)
n.241A>G
gnomAD v4
2g.202467605A>TCA350399692BMPR2c.334A>T (p.Thr112Ser)
c.265A>T (p.Thr89Ser)
n.241A>T
2g.202467606C>ACA350399694BMPR2c.335C>A (p.Thr112Lys)
c.266C>A (p.Thr89Lys)
n.242C>A
ClinVar dbSNP gnomAD v4
2g.202467606C>GCA350399695BMPR2c.335C>G (p.Thr112Arg)
c.266C>G (p.Thr89Arg)
n.242C>G
2g.202467606C>TCA350399696BMPR2c.335C>T (p.Thr112Ile)
c.266C>T (p.Thr89Ile)
n.242C>T
2g.202467607A>CCA430903838BMPR2c.336A>C (p.Thr112=)
c.267A>C (p.Thr89=)
n.243A>C
2g.202467607A>GCA430903839BMPR2c.336A>G (p.Thr112=)
c.267A>G (p.Thr89=)
n.243A>G
2g.202467607A>TCA430903840BMPR2c.336A>T (p.Thr112=)
c.267A>T (p.Thr89=)
n.243A>T
2g.202467608T>ACA350399697BMPR2c.337T>A (p.Tyr113Asn)
c.268T>A (p.Tyr90Asn)
n.244T>A
2g.202467608T>CCA350399698BMPR2c.337T>C (p.Tyr113His)
c.268T>C (p.Tyr90His)
n.244T>C
gnomAD v4
2g.202467608T>GCA350399699BMPR2c.337T>G (p.Tyr113Asp)
c.268T>G (p.Tyr90Asp)
n.244T>G
2g.202467608T=CA1321510599BMPR2c.337T= (p.Tyr113=)
c.268T= (p.Tyr90=)
n.244T=
2g.202467609A=CA1321510611BMPR2c.338A= (p.Tyr113=)
c.269A= (p.Tyr90=)
n.245A=
2g.202467609A>CCA350399700BMPR2c.338A>C (p.Tyr113Ser)
c.269A>C (p.Tyr90Ser)
n.245A>C
2g.202467609A>GCA350399701BMPR2c.338A>G (p.Tyr113Cys)
c.269A>G (p.Tyr90Cys)
n.245A>G
ClinVar dbSNP COSMIC
2g.202467609A>TCA350399702BMPR2c.338A>T (p.Tyr113Phe)
c.269A>T (p.Tyr90Phe)
n.245A>T
2g.202467609dupCA645294008BMPR2c.338dup (p.Tyr113Ter)
c.269dup (p.Tyr90Ter)
n.245dup
ClinVar dbSNP
2g.202467610C>ACA350399703BMPR2c.339C>A (p.Tyr113Ter)
c.270C>A (p.Tyr90Ter)
n.246C>A
ClinVar dbSNP
2g.202467610C=CA1321510614BMPR2c.339C= (p.Tyr113=)
c.270C= (p.Tyr90=)
n.246C=
2g.202467610C>GCA350399704BMPR2c.339C>G (p.Tyr113Ter)
c.270C>G (p.Tyr90Ter)
n.246C>G
ClinVar dbSNP
2g.202467610C>TCA430903841BMPR2c.339C>T (p.Tyr113=)
c.270C>T (p.Tyr90=)
n.246C>T
2g.202467611delCA2586965553BMPR2c.340del (p.Arg114ValfsTer?)
c.271del (p.Arg91ValfsTer?)
n.247del
2g.202467610_202467611insAACA645294009BMPR2c.339_340insAA (p.Arg114AsnfsTer?)
c.270_271insAA (p.Arg91AsnfsTer?)
n.246_247insAA
ClinVar dbSNP
2g.202467611C>ACA350399705BMPR2c.340C>A (p.Arg114Ser)
c.271C>A (p.Arg91Ser)
n.247C>A
gnomAD v4
2g.202467611C=CA1321510627BMPR2c.340C= (p.Arg114=)
c.271C= (p.Arg91=)
n.247C=
2g.202467611C>GCA350399707BMPR2c.340C>G (p.Arg114Gly)
c.271C>G (p.Arg91Gly)
n.247C>G
2g.202467611C>TCA350399706BMPR2c.340C>T (p.Arg114Cys)
c.271C>T (p.Arg91Cys)
n.247C>T
ClinVar dbSNP gnomAD v4
2g.202467612G>ACA350399708BMPR2c.341G>A (p.Arg114His)
c.272G>A (p.Arg91His)
n.248G>A
gnomAD v4
2g.202467612G>CCA350399709BMPR2c.341G>C (p.Arg114Pro)
c.272G>C (p.Arg91Pro)
n.248G>C
2g.202467612G=CA1321510632BMPR2c.341G= (p.Arg114=)
c.272G= (p.Arg91=)
n.248G=
2g.202467612G>TCA350399710BMPR2c.341G>T (p.Arg114Leu)
c.272G>T (p.Arg91Leu)
n.248G>T
2g.202467613T>ACA430903842BMPR2c.342T>A (p.Arg114=)
c.273T>A (p.Arg91=)
n.249T>A
2g.202467613T>CCA430903843BMPR2c.342T>C (p.Arg114=)
c.273T>C (p.Arg91=)
n.249T>C
2g.202467613T>GCA430903844BMPR2c.342T>G (p.Arg114=)
c.273T>G (p.Arg91=)
n.249T>G
2g.202467615dupCA915941500BMPR2c.344dup (p.Cys116LeufsTer4)
c.275dup (p.Cys93LeufsTer4)
n.251dup
ClinVar dbSNP
2g.202467615delCA2586965554BMPR2c.344del (p.Phe115SerfsTer?)
c.275del (p.Phe92SerfsTer?)
n.251del
2g.202467614T>ACA350399711BMPR2c.343T>A (p.Phe115Ile)
c.274T>A (p.Phe92Ile)
n.250T>A
2g.202467614T>CCA350399712BMPR2c.343T>C (p.Phe115Leu)
c.274T>C (p.Phe92Leu)
n.250T>C
ClinVar dbSNP
2g.202467614T>GCA350399713BMPR2c.343T>G (p.Phe115Val)
c.274T>G (p.Phe92Val)
n.250T>G
2g.202467614_202467616delinsTTCCA1321510638BMPR2c.343_345delinsTTC (p.Phe115=)
c.274_276delinsTTC (p.Phe92=)
n.250_252delinsTTC
2g.202467615T>ACA350399714BMPR2c.344T>A (p.Phe115Tyr)
c.275T>A (p.Phe92Tyr)
n.251T>A
2g.202467615T>CCA350399715BMPR2c.344T>C (p.Phe115Ser)
c.275T>C (p.Phe92Ser)
n.251T>C
2g.202467615T>GCA350399716BMPR2c.344T>G (p.Phe115Cys)
c.275T>G (p.Phe92Cys)
n.251T>G
2g.202467616_202467617delCA645294010BMPR2c.345_346del (p.Phe115LeufsTer4)
c.276_277del (p.Phe92LeufsTer4)
n.252_253del
ClinVar dbSNP
2g.202467616C>ACA350399717BMPR2c.345C>A (p.Phe115Leu)
c.276C>A (p.Phe92Leu)
n.252C>A
2g.202467616C=CA1321510641BMPR2c.345C= (p.Phe115=)
c.276C= (p.Phe92=)
n.252C=
2g.202467616C>GCA350399718BMPR2c.345C>G (p.Phe115Leu)
c.276C>G (p.Phe92Leu)
n.252C>G
ClinVar
2g.202467616C>TCA430903845BMPR2c.345C>T (p.Phe115=)
c.276C>T (p.Phe92=)
n.252C>T
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202467617delCA2573134353BMPR2c.346del (p.Cys116AlafsTer?)
c.277del (p.Cys93AlafsTer?)
n.253del
ClinVar dbSNP
2g.202467617T>ACA350399720BMPR2c.346T>A (p.Cys116Ser)
c.277T>A (p.Cys93Ser)
n.253T>A
2g.202467617T>CCA350399721BMPR2c.346T>C (p.Cys116Arg)
c.277T>C (p.Cys93Arg)
n.253T>C
ClinVar dbSNP
2g.202467617T>GCA350399719BMPR2c.346T>G (p.Cys116Gly)
c.277T>G (p.Cys93Gly)
n.253T>G
2g.202467617T=CA1321510643BMPR2c.346T= (p.Cys116=)
c.277T= (p.Cys93=)
n.253T=
2g.202467618G>ACA350399722BMPR2c.347G>A (p.Cys116Tyr)
c.278G>A (p.Cys93Tyr)
n.254G>A
2g.202467618G>CCA350399723BMPR2c.347G>C (p.Cys116Ser)
c.278G>C (p.Cys93Ser)
n.254G>C
2g.202467618G>TCA350399724BMPR2c.347G>T (p.Cys116Phe)
c.278G>T (p.Cys93Phe)
n.254G>T
2g.202467619C>ACA350399725BMPR2c.348C>A (p.Cys116Ter)
c.279C>A (p.Cys93Ter)
n.255C>A
2g.202467619C>GCA350399726BMPR2c.348C>G (p.Cys116Trp)
c.279C>G (p.Cys93Trp)
n.255C>G
2g.202467619C>TCA430903846BMPR2c.348C>T (p.Cys116=)
c.279C>T (p.Cys93=)
n.255C>T
2g.202467620T>ACA350399727BMPR2c.349T>A (p.Cys117Ser)
c.280T>A (p.Cys94Ser)
n.256T>A
2g.202467620T>CCA350399728BMPR2c.349T>C (p.Cys117Arg)
c.280T>C (p.Cys94Arg)
n.256T>C
ClinVar dbSNP
2g.202467620T>GCA350399729BMPR2c.349T>G (p.Cys117Gly)
c.280T>G (p.Cys94Gly)
n.256T>G
ClinVar dbSNP
2g.202467620T=CA1321510645BMPR2c.349T= (p.Cys117=)
c.280T= (p.Cys94=)
n.256T=
2g.202467621G>ACA350399730BMPR2c.350G>A (p.Cys117Tyr)
c.281G>A (p.Cys94Tyr)
n.257G>A
ClinVar dbSNP gnomAD v4
2g.202467621G>CCA350399731BMPR2c.350G>C (p.Cys117Ser)
c.281G>C (p.Cys94Ser)
n.257G>C
ClinVar dbSNP
2g.202467621G=CA1321510651BMPR2c.350G= (p.Cys117=)
c.281G= (p.Cys94=)
n.257G=
2g.202467621G>TCA350399732BMPR2c.350G>T (p.Cys117Phe)
c.281G>T (p.Cys94Phe)
n.257G>T
2g.202467621dupCA2586965555BMPR2c.350dup (p.Cys117TrpfsTer3)
c.281dup (p.Cys94TrpfsTer3)
n.257dup
2g.202467622T>ACA350399733BMPR2c.351T>A (p.Cys117Ter)
c.282T>A (p.Cys94Ter)
n.258T>A
2g.202467622T>CCA430903847BMPR2c.351T>C (p.Cys117=)
c.282T>C (p.Cys94=)
n.258T>C
2g.202467622T>GCA350399734BMPR2c.351T>G (p.Cys117Trp)
c.282T>G (p.Cys94Trp)
n.258T>G
2g.202467623T>ACA350399737BMPR2c.352T>A (p.Cys118Ser)
c.283T>A (p.Cys95Ser)
n.259T>A
2g.202467623T>CCA350399736BMPR2c.352T>C (p.Cys118Arg)
c.283T>C (p.Cys95Arg)
n.259T>C
2g.202467623T>GCA350399735BMPR2c.352T>G (p.Cys118Gly)
c.283T>G (p.Cys95Gly)
n.259T>G
2g.202467623_202467624delinsTGCA1321510661BMPR2c.352_353delinsTG (p.Cys118=)
c.283_284delinsTG (p.Cys95=)
n.259_260delinsTG
2g.202467624delCA645294011BMPR2c.353del (p.Cys118LeufsTer?)
c.284del (p.Cys95LeufsTer?)
n.260del
ClinVar dbSNP
2g.202467624G>ACA350399738BMPR2c.353G>A (p.Cys118Tyr)
c.284G>A (p.Cys95Tyr)
n.260G>A
ClinVar dbSNP
2g.202467624G>CCA350399739BMPR2c.353G>C (p.Cys118Ser)
c.284G>C (p.Cys95Ser)
n.260G>C
2g.202467624G=CA1321510663BMPR2c.353G= (p.Cys118=)
c.284G= (p.Cys95=)
n.260G=
2g.202467624G>TCA350399740BMPR2c.353G>T (p.Cys118Phe)
c.284G>T (p.Cys95Phe)
n.260G>T

Number of alleles fetched