Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202518949_202518965dupCA2586965532BMPR2c.749_765dup (p.Asn256LeufsTer2)
c.680_696dup (p.Asn233LeufsTer2)
2g.202518953G>ACA430839634BMPR2c.753G>A (p.Leu251=)
c.684G>A (p.Leu228=)
 ClinVar dbSNP gnomAD v4
2g.202518953G>CCA350340433BMPR2c.753G>C (p.Leu251Phe)
c.684G>C (p.Leu228Phe)
2g.202518953G=CA1321539707BMPR2c.753G= (p.Leu251=)
c.684G= (p.Leu228=)
2g.202518953G>TCA350340434BMPR2c.753G>T (p.Leu251Phe)
c.684G>T (p.Leu228Phe)
2g.202518954A>CCA350340435BMPR2c.754A>C (p.Met252Leu)
c.685A>C (p.Met229Leu)
2g.202518954A>GCA350340436BMPR2c.754A>G (p.Met252Val)
c.685A>G (p.Met229Val)
2g.202518954A>TCA350340437BMPR2c.754A>T (p.Met252Leu)
c.685A>T (p.Met229Leu)
2g.202518955T>ACA350340440BMPR2c.755T>A (p.Met252Lys)
c.686T>A (p.Met229Lys)
2g.202518955T>CCA350340439BMPR2c.755T>C (p.Met252Thr)
c.686T>C (p.Met229Thr)
 gnomAD v4
2g.202518955T>GCA350340438BMPR2c.755T>G (p.Met252Arg)
c.686T>G (p.Met229Arg)
2g.202518956G>ACA350340443BMPR2c.756G>A (p.Met252Ile)
c.687G>A (p.Met229Ile)
2g.202518956G>CCA350340441BMPR2c.756G>C (p.Met252Ile)
c.687G>C (p.Met229Ile)
2g.202518956G>TCA350340442BMPR2c.756G>T (p.Met252Ile)
c.687G>T (p.Met229Ile)
2g.202518957G>ACA350340444BMPR2c.757G>A (p.Glu253Lys)
c.688G>A (p.Glu230Lys)
2g.202518957G>CCA350340445BMPR2c.757G>C (p.Glu253Gln)
c.688G>C (p.Glu230Gln)
 COSMIC
2g.202518957G>TCA350340446BMPR2c.757G>T (p.Glu253Ter)
c.688G>T (p.Glu230Ter)
2g.202518958A>CCA350340447BMPR2c.758A>C (p.Glu253Ala)
c.689A>C (p.Glu230Ala)
2g.202518958A>GCA350340448BMPR2c.758A>G (p.Glu253Gly)
c.689A>G (p.Glu230Gly)
2g.202518958A>TCA350340449BMPR2c.758A>T (p.Glu253Val)
c.689A>T (p.Glu230Val)
2g.202518959A>CCA350340450BMPR2c.759A>C (p.Glu253Asp)
c.690A>C (p.Glu230Asp)
2g.202518959A>GCA430839653BMPR2c.759A>G (p.Glu253=)
c.690A>G (p.Glu230=)
2g.202518959A>TCA350340451BMPR2c.759A>T (p.Glu253Asp)
c.690A>T (p.Glu230Asp)
2g.202518960C>ACA350340452BMPR2c.760C>A (p.His254Asn)
c.691C>A (p.His231Asn)
2g.202518960C=CA1321539708BMPR2c.760C= (p.His254=)
c.691C= (p.His231=)
2g.202518960C>GCA64015800BMPR2c.760C>G (p.His254Asp)
c.691C>G (p.His231Asp)
 dbSNP
2g.202518960C>TCA350340453BMPR2c.760C>T (p.His254Tyr)
c.691C>T (p.His231Tyr)
2g.202518960_202518962delinsCATCA1321539709BMPR2c.760_762delinsCAT (p.His254=)
c.691_693delinsCAT (p.His231=)
2g.202518961A=CA1321539710BMPR2c.761A= (p.His254=)
c.692A= (p.His231=)
2g.202518961A>CCA350340455BMPR2c.761A>C (p.His254Pro)
c.692A>C (p.His231Pro)
2g.202518961A>GCA2061199BMPR2c.761A>G (p.His254Arg)
c.692A>G (p.His231Arg)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518961A>TCA350340454BMPR2c.761A>T (p.His254Leu)
c.692A>T (p.His231Leu)
2g.202518961_202518962delCA915941646BMPR2c.761_762del (p.His254ArgfsTer11)
c.692_693del (p.His231ArgfsTer11)
 ClinVar dbSNP
2g.202518962T>ACA350340456BMPR2c.762T>A (p.His254Gln)
c.693T>A (p.His231Gln)
2g.202518962T>CCA430839666BMPR2c.762T>C (p.His254=)
c.693T>C (p.His231=)
2g.202518962T>GCA350340457BMPR2c.762T>G (p.His254Gln)
c.693T>G (p.His231Gln)
 gnomAD v4
2g.202518963G>ACA2061200BMPR2c.763G>A (p.Asp255Asn)
c.694G>A (p.Asp232Asn)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202518963G>CCA350340458BMPR2c.763G>C (p.Asp255His)
c.694G>C (p.Asp232His)
2g.202518963G=CA1321539711BMPR2c.763G= (p.Asp255=)
c.694G= (p.Asp232=)
2g.202518963G>TCA350340459BMPR2c.763G>T (p.Asp255Tyr)
c.694G>T (p.Asp232Tyr)
2g.202518964A>CCA350340460BMPR2c.764A>C (p.Asp255Ala)
c.695A>C (p.Asp232Ala)
2g.202518964A>GCA350340461BMPR2c.764A>G (p.Asp255Gly)
c.695A>G (p.Asp232Gly)
2g.202518964A>TCA350340462BMPR2c.764A>T (p.Asp255Val)
c.695A>T (p.Asp232Val)
2g.202518965C>ACA350340463BMPR2c.765C>A (p.Asp255Glu)
c.696C>A (p.Asp232Glu)
2g.202518965C=CA1321539712BMPR2c.765C= (p.Asp255=)
c.696C= (p.Asp232=)
2g.202518965C>GCA350340464BMPR2c.765C>G (p.Asp255Glu)
c.696C>G (p.Asp232Glu)
2g.202518965C>TCA430839683BMPR2c.765C>T (p.Asp255=)
c.696C>T (p.Asp232=)
 dbSNP
2g.202518966A>CCA350340465BMPR2c.766A>C (p.Asn256His)
c.697A>C (p.Asn233His)
2g.202518966A>GCA350340466BMPR2c.766A>G (p.Asn256Asp)
c.697A>G (p.Asn233Asp)

Number of alleles fetched