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.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
2g.202467625T>ACA350399741BMPR2c.354T>A (p.Cys118Ter)
c.285T>A (p.Cys95Ter)
n.261T>A
2g.202467625T>CCA430903849BMPR2c.354T>C (p.Cys118=)
c.285T>C (p.Cys95=)
n.261T>C
2g.202467625T>GCA278075BMPR2c.354T>G (p.Cys118Trp)
c.285T>G (p.Cys95Trp)
n.261T>G
ClinVar dbSNP gnomAD v4
2g.202467625T=CA1321510665BMPR2c.354T= (p.Cys118=)
c.285T= (p.Cys95=)
n.261T=
2g.202467625_202467626delinsAGCA645294012BMPR2c.354_355delinsAG (p.Cys118Ter)
c.285_286delinsAG (p.Cys95Ter)
n.261_262delinsAG
ClinVar dbSNP
2g.202467625_202467626delinsTACA1321510664BMPR2c.354_355delinsTA (p.Cys118=)
c.285_286delinsTA (p.Cys95=)
n.261_262delinsTA
2g.202467626delCA645294013BMPR2c.355del (p.Ser119AlafsTer?)
c.286del (p.Ser96AlafsTer?)
n.262del
ClinVar dbSNP
2g.202467626A=CA1321510666BMPR2c.355A= (p.Ser119=)
c.286A= (p.Ser96=)
n.262A=
2g.202467626A>CCA350399742BMPR2c.355A>C (p.Ser119Arg)
c.286A>C (p.Ser96Arg)
n.262A>C
2g.202467626A>GCA350399743BMPR2c.355A>G (p.Ser119Gly)
c.286A>G (p.Ser96Gly)
n.262A>G
dbSNP gnomAD v2 gnomAD v4
2g.202467626A>TCA350399744BMPR2c.355A>T (p.Ser119Cys)
c.286A>T (p.Ser96Cys)
n.262A>T
2g.202467627G>ACA350399745BMPR2c.356G>A (p.Ser119Asn)
c.287G>A (p.Ser96Asn)
n.263G>A
gnomAD v4
2g.202467627G>CCA350399746BMPR2c.356G>C (p.Ser119Thr)
c.287G>C (p.Ser96Thr)
n.263G>C
2g.202467627G>TCA350399747BMPR2c.356G>T (p.Ser119Ile)
c.287G>T (p.Ser96Ile)
n.263G>T
2g.202467627_202467629delinsGCACA1321510667BMPR2c.356_358delinsGCA (p.Ser119=)
c.287_289delinsGCA (p.Ser96=)
n.263_265delinsGCA
2g.202467628C>ACA350399748BMPR2c.357C>A (p.Ser119Arg)
c.288C>A (p.Ser96Arg)
n.264C>A
2g.202467628C=CA1321510668BMPR2c.357C= (p.Ser119=)
c.288C= (p.Ser96=)
n.264C=
2g.202467628C>GCA350399749BMPR2c.357C>G (p.Ser119Arg)
c.288C>G (p.Ser96Arg)
n.264C>G
2g.202467628C>TCA2061092BMPR2c.357C>T (p.Ser119=)
c.288C>T (p.Ser96=)
n.264C>T
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467630_202467631delCA645294014BMPR2c.359_360del (p.Thr120ArgfsTer4)
c.290_291del (p.Thr97ArgfsTer4)
n.266_267del
ClinVar dbSNP
2g.202467629A>CCA350399751BMPR2c.358A>C (p.Thr120Pro)
c.289A>C (p.Thr97Pro)
n.265A>C
2g.202467629A>GCA350399752BMPR2c.358A>G (p.Thr120Ala)
c.289A>G (p.Thr97Ala)
n.265A>G
gnomAD v4
2g.202467629A>TCA350399750BMPR2c.358A>T (p.Thr120Ser)
c.289A>T (p.Thr97Ser)
n.265A>T
2g.202467630C>ACA350399754BMPR2c.359C>A (p.Thr120Lys)
c.290C>A (p.Thr97Lys)
n.266C>A
2g.202467630C>GCA350399753BMPR2c.359C>G (p.Thr120Arg)
c.290C>G (p.Thr97Arg)
n.266C>G
2g.202467630C>TCA350399755BMPR2c.359C>T (p.Thr120Ile)
c.290C>T (p.Thr97Ile)
n.266C>T
2g.202467631A>CCA430903855BMPR2c.360A>C (p.Thr120=)
c.291A>C (p.Thr97=)
n.267A>C
2g.202467631A>GCA430903854BMPR2c.360A>G (p.Thr120=)
c.291A>G (p.Thr97=)
n.267A>G
gnomAD v4
2g.202467631A>TCA430903853BMPR2c.360A>T (p.Thr120=)
c.291A>T (p.Thr97=)
n.267A>T
2g.202467632G>ACA350399756BMPR2c.361G>A (p.Asp121Asn)
c.292G>A (p.Asp98Asn)
n.268G>A
COSMIC
2g.202467632G>CCA350399758BMPR2c.361G>C (p.Asp121His)
c.292G>C (p.Asp98His)
n.268G>C
2g.202467632G>TCA350399757BMPR2c.361G>T (p.Asp121Tyr)
c.292G>T (p.Asp98Tyr)
n.268G>T
2g.202467633A>CCA350399759BMPR2c.362A>C (p.Asp121Ala)
c.293A>C (p.Asp98Ala)
n.269A>C
2g.202467633A>GCA350399760BMPR2c.362A>G (p.Asp121Gly)
c.293A>G (p.Asp98Gly)
n.269A>G
2g.202467633A>TCA350399761BMPR2c.362A>T (p.Asp121Val)
c.293A>T (p.Asp98Val)
n.269A>T
2g.202467634T>ACA350399762BMPR2c.363T>A (p.Asp121Glu)
c.294T>A (p.Asp98Glu)
n.270T>A
2g.202467634T>CCA430903858BMPR2c.363T>C (p.Asp121=)
c.294T>C (p.Asp98=)
n.270T>C
2g.202467634T>GCA350399763BMPR2c.363T>G (p.Asp121Glu)
c.294T>G (p.Asp98Glu)
n.270T>G
2g.202467635T>ACA350399764BMPR2c.364T>A (p.Leu122Ile)
c.295T>A (p.Leu99Ile)
n.271T>A
2g.202467635T>CCA430903859BMPR2c.364T>C (p.Leu122=)
c.295T>C (p.Leu99=)
n.271T>C
2g.202467635T>GCA350399765BMPR2c.364T>G (p.Leu122Val)
c.295T>G (p.Leu99Val)
n.271T>G
2g.202467636T>ACA350399766BMPR2c.365T>A (p.Leu122Ter)
c.296T>A (p.Leu99Ter)
n.272T>A
2g.202467636T>CCA350399767BMPR2c.365T>C (p.Leu122Ser)
c.296T>C (p.Leu99Ser)
n.272T>C
COSMIC
2g.202467636T>GCA350399768BMPR2c.365T>G (p.Leu122Ter)
c.296T>G (p.Leu99Ter)
n.272T>G
2g.202467637A>CCA350399769BMPR2c.366A>C (p.Leu122Phe)
c.297A>C (p.Leu99Phe)
n.273A>C
2g.202467637A>GCA430903860BMPR2c.366A>G (p.Leu122=)
c.297A>G (p.Leu99=)
n.273A>G
2g.202467637A>TCA350399770BMPR2c.366A>T (p.Leu122Phe)
c.297A>T (p.Leu99Phe)
n.273A>T
gnomAD v4
2g.202467638T>ACA278093BMPR2c.367T>A (p.Cys123Ser)
c.298T>A (p.Cys100Ser)
n.274T>A
ClinVar dbSNP
2g.202467638T>CCA278091BMPR2c.367T>C (p.Cys123Arg)
c.298T>C (p.Cys100Arg)
n.274T>C
ClinVar dbSNP
2g.202467638T>GCA350399771BMPR2c.367T>G (p.Cys123Gly)
c.298T>G (p.Cys100Gly)
n.274T>G
2g.202467638T=CA1321510669BMPR2c.367T= (p.Cys123=)
c.298T= (p.Cys100=)
n.274T=
2g.202467639G>ACA350399772BMPR2c.368G>A (p.Cys123Tyr)
c.299G>A (p.Cys100Tyr)
n.275G>A
2g.202467639G>CCA350399773BMPR2c.368G>C (p.Cys123Ser)
c.299G>C (p.Cys100Ser)
n.275G>C
2g.202467639G>TCA350399774BMPR2c.368G>T (p.Cys123Phe)
c.299G>T (p.Cys100Phe)
n.275G>T
2g.202467640delCA2573051835BMPR2c.369del (p.Cys123Ter)
c.300del (p.Cys100Ter)
n.276del
ClinVar dbSNP
2g.202467640T>ACA350399775BMPR2c.369T>A (p.Cys123Ter)
c.300T>A (p.Cys100Ter)
n.276T>A
2g.202467640T>CCA430903861BMPR2c.369T>C (p.Cys123=)
c.300T>C (p.Cys100=)
n.276T>C
2g.202467640T>GCA350399776BMPR2c.369T>G (p.Cys123Trp)
c.300T>G (p.Cys100Trp)
n.276T>G
2g.202467640T=CA1321510670BMPR2c.369T= (p.Cys123=)
c.300T= (p.Cys100=)
n.276T=
2g.202467641A=CA1321510671BMPR2c.370A= (p.Asn124=)
c.301A= (p.Asn101=)
n.277A=
2g.202467641A>CCA350399777BMPR2c.370A>C (p.Asn124His)
c.301A>C (p.Asn101His)
n.277A>C
2g.202467641A>GCA350399778BMPR2c.370A>G (p.Asn124Asp)
c.301A>G (p.Asn101Asp)
n.277A>G
ClinVar dbSNP
2g.202467641A>TCA350399780BMPR2c.370A>T (p.Asn124Tyr)
c.301A>T (p.Asn101Tyr)
n.277A>T
2g.202467642dupCA645294015BMPR2c.371dup (p.Asn124LysfsTer6)
c.302dup (p.Asn101LysfsTer6)
n.278dup
ClinVar dbSNP
2g.202467642A>CCA350399781BMPR2c.371A>C (p.Asn124Thr)
c.302A>C (p.Asn101Thr)
n.278A>C
2g.202467642A>GCA350399782BMPR2c.371A>G (p.Asn124Ser)
c.302A>G (p.Asn101Ser)
n.278A>G
2g.202467642A>TCA350399783BMPR2c.371A>T (p.Asn124Ile)
c.302A>T (p.Asn101Ile)
n.278A>T
2g.202467643T>ACA350399784BMPR2c.372T>A (p.Asn124Lys)
c.303T>A (p.Asn101Lys)
n.279T>A
2g.202467643T>CCA430903862BMPR2c.372T>C (p.Asn124=)
c.303T>C (p.Asn101=)
n.279T>C
2g.202467643T>GCA350399785BMPR2c.372T>G (p.Asn124Lys)
c.303T>G (p.Asn101Lys)
n.279T>G
2g.202467644G>ACA350399786BMPR2c.373G>A (p.Val125Ile)
c.304G>A (p.Val102Ile)
n.280G>A
2g.202467644G>CCA350399787BMPR2c.373G>C (p.Val125Leu)
c.304G>C (p.Val102Leu)
n.280G>C
2g.202467644G>TCA350399788BMPR2c.373G>T (p.Val125Phe)
c.304G>T (p.Val102Phe)
n.280G>T
2g.202467645T>ACA350399789BMPR2c.374T>A (p.Val125Asp)
c.305T>A (p.Val102Asp)
n.281T>A
2g.202467645T>CCA350399790BMPR2c.374T>C (p.Val125Ala)
c.305T>C (p.Val102Ala)
n.281T>C
2g.202467645T>GCA350399791BMPR2c.374T>G (p.Val125Gly)
c.305T>G (p.Val102Gly)
n.281T>G
2g.202467646C>ACA430903866BMPR2c.375C>A (p.Val125=)
c.306C>A (p.Val102=)
n.282C>A
gnomAD v4
2g.202467646C>GCA430903865BMPR2c.375C>G (p.Val125=)
c.306C>G (p.Val102=)
n.282C>G
gnomAD v4
2g.202467646C>TCA430903864BMPR2c.375C>T (p.Val125=)
c.306C>T (p.Val102=)
n.282C>T
2g.202467647A>CCA350399794BMPR2c.376A>C (p.Asn126His)
c.307A>C (p.Asn103His)
n.283A>C
2g.202467647A>GCA350399792BMPR2c.376A>G (p.Asn126Asp)
c.307A>G (p.Asn103Asp)
n.283A>G
2g.202467647A>TCA350399793BMPR2c.376A>T (p.Asn126Tyr)
c.307A>T (p.Asn103Tyr)
n.283A>T
2g.202467648A=CA1321510677BMPR2c.377A= (p.Asn126=)
c.308A= (p.Asn103=)
n.284A=
2g.202467648A>CCA350399795BMPR2c.377A>C (p.Asn126Thr)
c.308A>C (p.Asn103Thr)
n.284A>C
2g.202467648A>GCA323070BMPR2c.377A>G (p.Asn126Ser)
c.308A>G (p.Asn103Ser)
n.284A>G
ClinVar dbSNP
2g.202467648A>TCA350399796BMPR2c.377A>T (p.Asn126Ile)
c.308A>T (p.Asn103Ile)
n.284A>T
2g.202467649C>ACA350399797BMPR2c.378C>A (p.Asn126Lys)
c.309C>A (p.Asn103Lys)
n.285C>A
2g.202467649C>GCA350399798BMPR2c.378C>G (p.Asn126Lys)
c.309C>G (p.Asn103Lys)
n.285C>G
2g.202467649C>TCA430903869BMPR2c.378C>T (p.Asn126=)
c.309C>T (p.Asn103=)
n.285C>T
2g.202467650T>ACA350399799BMPR2c.379T>A (p.Phe127Ile)
c.310T>A (p.Phe104Ile)
n.286T>A
2g.202467650T>CCA350399801BMPR2c.379T>C (p.Phe127Leu)
c.310T>C (p.Phe104Leu)
n.286T>C
2g.202467650T>GCA350399800BMPR2c.379T>G (p.Phe127Val)
c.310T>G (p.Phe104Val)
n.286T>G
2g.202467651T>ACA350399802BMPR2c.380T>A (p.Phe127Tyr)
c.311T>A (p.Phe104Tyr)
n.287T>A
2g.202467651T>CCA350399803BMPR2c.380T>C (p.Phe127Ser)
c.311T>C (p.Phe104Ser)
n.287T>C
2g.202467651T>GCA350399804BMPR2c.380T>G (p.Phe127Cys)
c.311T>G (p.Phe104Cys)
n.287T>G
2g.202467652T>ACA350399805BMPR2c.381T>A (p.Phe127Leu)
c.312T>A (p.Phe104Leu)
n.288T>A
2g.202467652T>CCA430903870BMPR2c.381T>C (p.Phe127=)
c.312T>C (p.Phe104=)
n.288T>C
gnomAD v4
2g.202467652T>GCA350399806BMPR2c.381T>G (p.Phe127Leu)
c.312T>G (p.Phe104Leu)
n.288T>G
2g.202467653A>CCA350399807BMPR2c.382A>C (p.Thr128Pro)
c.313A>C (p.Thr105Pro)
n.289A>C
2g.202467653A>GCA350399808BMPR2c.382A>G (p.Thr128Ala)
c.313A>G (p.Thr105Ala)
n.289A>G
2g.202467653A>TCA350399809BMPR2c.382A>T (p.Thr128Ser)
c.313A>T (p.Thr105Ser)
n.289A>T
2g.202467654C>ACA350399810BMPR2c.383C>A (p.Thr128Asn)
c.314C>A (p.Thr105Asn)
n.290C>A
2g.202467654C>GCA350399811BMPR2c.383C>G (p.Thr128Ser)
c.314C>G (p.Thr105Ser)
n.290C>G
2g.202467654C>TCA350399812BMPR2c.383C>T (p.Thr128Ile)
c.314C>T (p.Thr105Ile)
n.290C>T
2g.202467655T>ACA430903871BMPR2c.384T>A (p.Thr128=)
c.315T>A (p.Thr105=)
n.291T>A
2g.202467655T>CCA430903872BMPR2c.384T>C (p.Thr128=)
c.315T>C (p.Thr105=)
n.291T>C
2g.202467655T>GCA430903873BMPR2c.384T>G (p.Thr128=)
c.315T>G (p.Thr105=)
n.291T>G
2g.202467656G>ACA350399815BMPR2c.385G>A (p.Glu129Lys)
c.316G>A (p.Glu106Lys)
n.292G>A
2g.202467656G>CCA350399814BMPR2c.385G>C (p.Glu129Gln)
c.316G>C (p.Glu106Gln)
n.292G>C
2g.202467656G>TCA350399813BMPR2c.385G>T (p.Glu129Ter)
c.316G>T (p.Glu106Ter)
n.292G>T
2g.202467657A>CCA350399817BMPR2c.386A>C (p.Glu129Ala)
c.317A>C (p.Glu106Ala)
n.293A>C
2g.202467657A>GCA350399816BMPR2c.386A>G (p.Glu129Gly)
c.317A>G (p.Glu106Gly)
n.293A>G
2g.202467657A>TCA350399818BMPR2c.386A>T (p.Glu129Val)
c.317A>T (p.Glu106Val)
n.293A>T
2g.202467658G>ACA430903874BMPR2c.387G>A (p.Glu129=)
c.318G>A (p.Glu106=)
n.294G>A
2g.202467658G>CCA350399819BMPR2c.387G>C (p.Glu129Asp)
c.318G>C (p.Glu106Asp)
n.294G>C
gnomAD v4
2g.202467658G>TCA350399820BMPR2c.387G>T (p.Glu129Asp)
c.318G>T (p.Glu106Asp)
n.294G>T
gnomAD v4
2g.202467659A>CCA350399821BMPR2c.388A>C (p.Asn130His)
c.319A>C (p.Asn107His)
n.295A>C
2g.202467659A>GCA350399822BMPR2c.388A>G (p.Asn130Asp)
c.319A>G (p.Asn107Asp)
n.295A>G
gnomAD v4
2g.202467659A>TCA350399823BMPR2c.388A>T (p.Asn130Tyr)
c.319A>T (p.Asn107Tyr)
n.295A>T
2g.202467660A>CCA350399824BMPR2c.389A>C (p.Asn130Thr)
c.320A>C (p.Asn107Thr)
n.296A>C
2g.202467660A>GCA350399825BMPR2c.389A>G (p.Asn130Ser)
c.320A>G (p.Asn107Ser)
n.296A>G
COSMIC
2g.202467660A>TCA350399826BMPR2c.389A>T (p.Asn130Ile)
c.320A>T (p.Asn107Ile)
n.296A>T
2g.202467661T>ACA350399827BMPR2c.390T>A (p.Asn130Lys)
c.321T>A (p.Asn107Lys)
n.297T>A
2g.202467661T>CCA430903875BMPR2c.390T>C (p.Asn130=)
c.321T>C (p.Asn107=)
n.297T>C
2g.202467661T>GCA350399828BMPR2c.390T>G (p.Asn130Lys)
c.321T>G (p.Asn107Lys)
n.297T>G
2g.202467662T>ACA350399829BMPR2c.391T>A (p.Phe131Ile)
c.322T>A (p.Phe108Ile)
n.298T>A
2g.202467662T>CCA350399830BMPR2c.391T>C (p.Phe131Leu)
c.322T>C (p.Phe108Leu)
n.298T>C
2g.202467662T>GCA350399831BMPR2c.391T>G (p.Phe131Val)
c.322T>G (p.Phe108Val)
n.298T>G
2g.202467663T>ACA350399834BMPR2c.392T>A (p.Phe131Tyr)
c.323T>A (p.Phe108Tyr)
n.299T>A
2g.202467663T>CCA350399832BMPR2c.392T>C (p.Phe131Ser)
c.323T>C (p.Phe108Ser)
n.299T>C
2g.202467663T>GCA350399833BMPR2c.392T>G (p.Phe131Cys)
c.323T>G (p.Phe108Cys)
n.299T>G
2g.202467664T>ACA350399835BMPR2c.393T>A (p.Phe131Leu)
c.324T>A (p.Phe108Leu)
n.300T>A
2g.202467664T>CCA430903876BMPR2c.393T>C (p.Phe131=)
c.324T>C (p.Phe108=)
n.300T>C
dbSNP
2g.202467664T>GCA350399836BMPR2c.393T>G (p.Phe131Leu)
c.324T>G (p.Phe108Leu)
n.300T>G
2g.202467664T=CA1321510679BMPR2c.393T= (p.Phe131=)
c.324T= (p.Phe108=)
n.300T=
2g.202467665C>ACA350399837BMPR2c.394C>A (p.Pro132Thr)
c.325C>A (p.Pro109Thr)
n.301C>A
2g.202467665C>GCA350399838BMPR2c.394C>G (p.Pro132Ala)
c.325C>G (p.Pro109Ala)
n.301C>G
2g.202467665C>TCA350399839BMPR2c.394C>T (p.Pro132Ser)
c.325C>T (p.Pro109Ser)
n.301C>T
2g.202467666C>ACA350399840BMPR2c.395C>A (p.Pro132Gln)
c.326C>A (p.Pro109Gln)
n.302C>A
2g.202467666C>GCA350399841BMPR2c.395C>G (p.Pro132Arg)
c.326C>G (p.Pro109Arg)
n.302C>G
2g.202467666C>TCA350399842BMPR2c.395C>T (p.Pro132Leu)
c.326C>T (p.Pro109Leu)
n.302C>T
2g.202467667A=CA1321510681BMPR2c.396A= (p.Pro132=)
c.327A= (p.Pro109=)
n.303A=
2g.202467667A>CCA430903879BMPR2c.396A>C (p.Pro132=)
c.327A>C (p.Pro109=)
n.303A>C
dbSNP
2g.202467667A>GCA430903878BMPR2c.396A>G (p.Pro132=)
c.327A>G (p.Pro109=)
n.303A>G
dbSNP
2g.202467667A>TCA430903877BMPR2c.396A>T (p.Pro132=)
c.327A>T (p.Pro109=)
n.303A>T
2g.202467668C>ACA350399843BMPR2c.397C>A (p.Pro133Thr)
c.328C>A (p.Pro110Thr)
n.304C>A
2g.202467668C>GCA350399844BMPR2c.397C>G (p.Pro133Ala)
c.328C>G (p.Pro110Ala)
n.304C>G
2g.202467668C>TCA350399845BMPR2c.397C>T (p.Pro133Ser)
c.328C>T (p.Pro110Ser)
n.304C>T
2g.202467669C>ACA350399848BMPR2c.398C>A (p.Pro133His)
c.329C>A (p.Pro110His)
n.305C>A
2g.202467669C>GCA350399847BMPR2c.398C>G (p.Pro133Arg)
c.329C>G (p.Pro110Arg)
n.305C>G
2g.202467669C>TCA350399846BMPR2c.398C>T (p.Pro133Leu)
c.329C>T (p.Pro110Leu)
n.305C>T
gnomAD v4
2g.202467669_202467670delinsCTCA1321510685BMPR2c.398_399delinsCT (p.Pro133=)
c.329_330delinsCT (p.Pro110=)
n.305_306delinsCT
2g.202467670delCA645294016BMPR2c.399del (p.Pro134LeufsTer18)
c.330del (p.Pro111LeufsTer18)
n.306del
ClinVar dbSNP
2g.202467670T>ACA430903880BMPR2c.399T>A (p.Pro133=)
c.330T>A (p.Pro110=)
n.306T>A
2g.202467670T>CCA430903882BMPR2c.399T>C (p.Pro133=)
c.330T>C (p.Pro110=)
n.306T>C
2g.202467670T>GCA430903881BMPR2c.399T>G (p.Pro133=)
c.330T>G (p.Pro110=)
n.306T>G
2g.202467671C>ACA350399849BMPR2c.400C>A (p.Pro134Thr)
c.331C>A (p.Pro111Thr)
n.307C>A
2g.202467671C>GCA350399850BMPR2c.400C>G (p.Pro134Ala)
c.331C>G (p.Pro111Ala)
n.307C>G
2g.202467671C>TCA350399851BMPR2c.400C>T (p.Pro134Ser)
c.331C>T (p.Pro111Ser)
n.307C>T
gnomAD v4
2g.202467672C>ACA350399852BMPR2c.401C>A (p.Pro134His)
c.332C>A (p.Pro111His)
n.308C>A
2g.202467672C>GCA350399853BMPR2c.401C>G (p.Pro134Arg)
c.332C>G (p.Pro111Arg)
n.308C>G
COSMIC
2g.202467672C>TCA350399854BMPR2c.401C>T (p.Pro134Leu)
c.332C>T (p.Pro111Leu)
n.308C>T
gnomAD v4
2g.202467673T>ACA2061093BMPR2c.402T>A (p.Pro134=)
c.333T>A (p.Pro111=)
n.309T>A
dbSNP ExAC gnomAD v2 gnomAD v4
2g.202467673T>CCA430903883BMPR2c.402T>C (p.Pro134=)
c.333T>C (p.Pro111=)
n.309T>C
2g.202467673T>GCA430903884BMPR2c.402T>G (p.Pro134=)
c.333T>G (p.Pro111=)
n.309T>G
2g.202467673T=CA1321510689BMPR2c.402T= (p.Pro134=)
c.333T= (p.Pro111=)
n.309T=
2g.202467674G>ACA350399855BMPR2c.403G>A (p.Asp135Asn)
c.334G>A (p.Asp112Asn)
n.310G>A
2g.202467674G>CCA350399856BMPR2c.403G>C (p.Asp135His)
c.334G>C (p.Asp112His)
n.310G>C
2g.202467674G>TCA350399857BMPR2c.403G>T (p.Asp135Tyr)
c.334G>T (p.Asp112Tyr)
n.310G>T
2g.202467674_202467676delinsGACCA1321510692BMPR2c.403_405delinsGAC (p.Asp135=)
c.334_336delinsGAC (p.Asp112=)
n.310_312delinsGAC
2g.202467674_202467679delinsGACACACA1321510693BMPR2c.403_408delinsGACACA (p.Asp135=)
c.334_339delinsGACACA (p.Asp112=)
n.310_315delinsGACACA
2g.202467675A>CCA350399858BMPR2c.404A>C (p.Asp135Ala)
c.335A>C (p.Asp112Ala)
n.311A>C
2g.202467675A>GCA350399859BMPR2c.404A>G (p.Asp135Gly)
c.335A>G (p.Asp112Gly)
n.311A>G
2g.202467675A>TCA350399860BMPR2c.404A>T (p.Asp135Val)
c.335A>T (p.Asp112Val)
n.311A>T
2g.202467678_202467679delCA645294018BMPR2c.407_408del (p.Thr136AsnfsTer10)
c.338_339del (p.Thr113AsnfsTer10)
n.314_315del
ClinVar dbSNP
2g.202467679_202467683delCA645294017BMPR2c.408_412del (p.Pro138GlnfsTer7)
c.339_343del (p.Pro115GlnfsTer7)
n.315_319del
ClinVar dbSNP

Number of alleles fetched