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.202467577_202467579delCA2061085BMPR2c.306_308del (p.Thr103del)
c.237_239del (p.Thr80del)
n.213_215del
 dbSNP ExAC gnomAD v2 gnomAD v4
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

Number of alleles fetched