Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202513728A=CA1321537306BMPR2c.428A= (p.His143=)
c.359A= (p.His120=)
2g.202513728A>CCA350337855BMPR2c.428A>C (p.His143Pro)
c.359A>C (p.His120Pro)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202513728A>GCA350337858BMPR2c.428A>G (p.His143Arg)
c.359A>G (p.His120Arg)
 gnomAD v4
2g.202513728A>TCA350337860BMPR2c.428A>T (p.His143Leu)
c.359A>T (p.His120Leu)
2g.202513729T>ACA350337863BMPR2c.429T>A (p.His143Gln)
c.360T>A (p.His120Gln)
2g.202513729T>CCA430838391BMPR2c.429T>C (p.His143=)
c.360T>C (p.His120=)
2g.202513729T>GCA350337866BMPR2c.429T>G (p.His143Gln)
c.360T>G (p.His120Gln)
2g.202513730T>ACA350337870BMPR2c.430T>A (p.Ser144Thr)
c.361T>A (p.Ser121Thr)
2g.202513730T>CCA350337871BMPR2c.430T>C (p.Ser144Pro)
c.361T>C (p.Ser121Pro)
2g.202513730T>GCA350337873BMPR2c.430T>G (p.Ser144Ala)
c.361T>G (p.Ser121Ala)
2g.202513731C>ACA350337876BMPR2c.431C>A (p.Ser144Ter)
c.362C>A (p.Ser121Ter)
 gnomAD v4
2g.202513731C>GCA350337878BMPR2c.431C>G (p.Ser144Ter)
c.362C>G (p.Ser121Ter)
2g.202513731C>TCA350337880BMPR2c.431C>T (p.Ser144Leu)
c.362C>T (p.Ser121Leu)
 dbSNP
2g.202513732A>CCA430838392BMPR2c.432A>C (p.Ser144=)
c.363A>C (p.Ser121=)
2g.202513732A>GCA430838393BMPR2c.432A>G (p.Ser144=)
c.363A>G (p.Ser121=)
 gnomAD v4
2g.202513732A>TCA430838394BMPR2c.432A>T (p.Ser144=)
c.363A>T (p.Ser121=)
2g.202513732_202513733delinsATCA1321537307BMPR2c.432_433delinsAT (p.Ser144=)
c.363_364delinsAT (p.Ser121=)
2g.202513733T>ACA350337888BMPR2c.433T>A (p.Phe145Ile)
c.364T>A (p.Phe122Ile)
2g.202513733T>CCA350337882BMPR2c.433T>C (p.Phe145Leu)
c.364T>C (p.Phe122Leu)
2g.202513733T>GCA350337885BMPR2c.433T>G (p.Phe145Val)
c.364T>G (p.Phe122Val)
2g.202513735delCA645293799BMPR2c.435del (p.Phe145LeufsTer7)
c.366del (p.Phe122LeufsTer7)
 ClinVar dbSNP
2g.202513734T>ACA350337891BMPR2c.434T>A (p.Phe145Tyr)
c.365T>A (p.Phe122Tyr)
2g.202513734T>CCA350337894BMPR2c.434T>C (p.Phe145Ser)
c.365T>C (p.Phe122Ser)
2g.202513734T>GCA350337895BMPR2c.434T>G (p.Phe145Cys)
c.365T>G (p.Phe122Cys)
2g.202513735T>ACA350337899BMPR2c.435T>A (p.Phe145Leu)
c.366T>A (p.Phe122Leu)
2g.202513735T>CCA430838395BMPR2c.435T>C (p.Phe145=)
c.366T>C (p.Phe122=)
2g.202513735T>GCA350337901BMPR2c.435T>G (p.Phe145Leu)
c.366T>G (p.Phe122Leu)
2g.202513736A>CCA350337904BMPR2c.436A>C (p.Asn146His)
c.367A>C (p.Asn123His)
2g.202513736A>GCA350337910BMPR2c.436A>G (p.Asn146Asp)
c.367A>G (p.Asn123Asp)
2g.202513736A>TCA350337907BMPR2c.436A>T (p.Asn146Tyr)
c.367A>T (p.Asn123Tyr)
2g.202513737A>CCA350337913BMPR2c.437A>C (p.Asn146Thr)
c.368A>C (p.Asn123Thr)
2g.202513737A>GCA350337916BMPR2c.437A>G (p.Asn146Ser)
c.368A>G (p.Asn123Ser)
2g.202513737A>TCA350337919BMPR2c.437A>T (p.Asn146Ile)
c.368A>T (p.Asn123Ile)
2g.202513738C>ACA350337922BMPR2c.438C>A (p.Asn146Lys)
c.369C>A (p.Asn123Lys)
2g.202513738C=CA1321537308BMPR2c.438C= (p.Asn146=)
c.369C= (p.Asn123=)
2g.202513738C>GCA350337927BMPR2c.438C>G (p.Asn146Lys)
c.369C>G (p.Asn123Lys)
2g.202513738C>TCA2061127BMPR2c.438C>T (p.Asn146=)
c.369C>T (p.Asn123=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202513739C>ACA430838396BMPR2c.439C>A (p.Arg147=)
c.370C>A (p.Arg124=)
2g.202513739C=CA1321537309BMPR2c.439C= (p.Arg147=)
c.370C= (p.Arg124=)
2g.202513739C>GCA350337930BMPR2c.439C>G (p.Arg147Gly)
c.370C>G (p.Arg124Gly)
 gnomAD v4
2g.202513739C>TCA351778BMPR2c.439C>T (p.Arg147Ter)
c.370C>T (p.Arg124Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
2g.202513740G>ACA2061128BMPR2c.440G>A (p.Arg147Gln)
c.371G>A (p.Arg124Gln)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2g.202513740G>CCA350337936BMPR2c.440G>C (p.Arg147Pro)
c.371G>C (p.Arg124Pro)
 gnomAD v4
2g.202513740G=CA1321537310BMPR2c.440G= (p.Arg147=)
c.371G= (p.Arg124=)
2g.202513740G>TCA350337938BMPR2c.440G>T (p.Arg147Leu)
c.371G>T (p.Arg124Leu)
 gnomAD v4
2g.202513741A=CA1321537311BMPR2c.441A= (p.Arg147=)
c.372A= (p.Arg124=)
2g.202513741A>CCA430838397BMPR2c.441A>C (p.Arg147=)
c.372A>C (p.Arg124=)
2g.202513741A>GCA430838398BMPR2c.441A>G (p.Arg147=)
c.372A>G (p.Arg124=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.202513741A>TCA430838399BMPR2c.441A>T (p.Arg147=)
c.372A>T (p.Arg124=)
 dbSNP gnomAD v4

Number of alleles fetched