Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202514899C>ACA350338696BMPR2c.541C>A (p.Gln181Lys)
c.472C>A (p.Gln158Lys)
 COSMIC
2g.202514899C=CA1321537844BMPR2c.541C= (p.Gln181=)
c.472C= (p.Gln158=)
2g.202514899C>GCA350338698BMPR2c.541C>G (p.Gln181Glu)
c.472C>G (p.Gln158Glu)
2g.202514899C>TCA350338700BMPR2c.541C>T (p.Gln181Ter)
c.472C>T (p.Gln158Ter)
 ClinVar dbSNP
2g.202514900A=CA1321537845BMPR2c.542A= (p.Gln181=)
c.473A= (p.Gln158=)
2g.202514900A>CCA350338702BMPR2c.542A>C (p.Gln181Pro)
c.473A>C (p.Gln158Pro)
2g.202514900A>GCA350338705BMPR2c.542A>G (p.Gln181Arg)
c.473A>G (p.Gln158Arg)
 dbSNP gnomAD v4
2g.202514900A>TCA350338708BMPR2c.542A>T (p.Gln181Leu)
c.473A>T (p.Gln158Leu)
2g.202514901A>CCA350338712BMPR2c.543A>C (p.Gln181His)
c.474A>C (p.Gln158His)
2g.202514901A>GCA430838539BMPR2c.543A>G (p.Gln181=)
c.474A>G (p.Gln158=)
2g.202514901A>TCA350338715BMPR2c.543A>T (p.Gln181His)
c.474A>T (p.Gln158His)
2g.202514901_202514902delCA2586971004BMPR2c.543_544del (p.Gly182SerfsTer17)
c.474_475del (p.Gly159SerfsTer17)
2g.202514902G>ACA350338723BMPR2c.544G>A (p.Gly182Ser)
c.475G>A (p.Gly159Ser)
 dbSNP gnomAD v4
2g.202514902G>CCA350338719BMPR2c.544G>C (p.Gly182Arg)
c.475G>C (p.Gly159Arg)
2g.202514902G=CA1321537846BMPR2c.544G= (p.Gly182=)
c.475G= (p.Gly159=)
2g.202514902G>TCA350338720BMPR2c.544G>T (p.Gly182Cys)
c.475G>T (p.Gly159Cys)
2g.202514903G>ACA119936BMPR2c.545G>A (p.Gly182Asp)
c.476G>A (p.Gly159Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514903G>CCA350338728BMPR2c.545G>C (p.Gly182Ala)
c.476G>C (p.Gly159Ala)
2g.202514903G=CA1321537847BMPR2c.545G= (p.Gly182=)
c.476G= (p.Gly159=)
2g.202514903G>TCA350338730BMPR2c.545G>T (p.Gly182Val)
c.476G>T (p.Gly159Val)
2g.202514904T>ACA430838542BMPR2c.546T>A (p.Gly182=)
c.477T>A (p.Gly159=)
2g.202514904T>CCA430838543BMPR2c.546T>C (p.Gly182=)
c.477T>C (p.Gly159=)
2g.202514904T>GCA430838544BMPR2c.546T>G (p.Gly182=)
c.477T>G (p.Gly159=)
2g.202514905C>ACA350338733BMPR2c.547C>A (p.Leu183Ile)
c.478C>A (p.Leu160Ile)
2g.202514905C=CA1321537848BMPR2c.547C= (p.Leu183=)
c.478C= (p.Leu160=)
2g.202514905C>GCA350338736BMPR2c.547C>G (p.Leu183Val)
c.478C>G (p.Leu160Val)
 dbSNP gnomAD v3 gnomAD v4
2g.202514905C>TCA350338738BMPR2c.547C>T (p.Leu183Phe)
c.478C>T (p.Leu160Phe)
2g.202514906T>ACA350338743BMPR2c.548T>A (p.Leu183His)
c.479T>A (p.Leu160His)
2g.202514906T>CCA350338744BMPR2c.548T>C (p.Leu183Pro)
c.479T>C (p.Leu160Pro)
2g.202514906T>GCA350338746BMPR2c.548T>G (p.Leu183Arg)
c.479T>G (p.Leu160Arg)
2g.202514907T>ACA430838547BMPR2c.549T>A (p.Leu183=)
c.480T>A (p.Leu160=)
2g.202514907T>CCA2061147BMPR2c.549T>C (p.Leu183=)
c.480T>C (p.Leu160=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.202514907T>GCA430838548BMPR2c.549T>G (p.Leu183=)
c.480T>G (p.Leu160=)
2g.202514907T=CA1321537849BMPR2c.549T= (p.Leu183=)
c.480T= (p.Leu160=)
2g.202514908C>ACA350338751BMPR2c.550C>A (p.His184Asn)
c.481C>A (p.His161Asn)
2g.202514908C=CA1321537851BMPR2c.550C= (p.His184=)
c.481C= (p.His161=)
2g.202514908C>GCA350338754BMPR2c.550C>G (p.His184Asp)
c.481C>G (p.His161Asp)
2g.202514908C>TCA350338757BMPR2c.550C>T (p.His184Tyr)
c.481C>T (p.His161Tyr)
 dbSNP
2g.202514908_202514931delinsCACAGTATGAACATGATGGAGGCACA1321537850BMPR2c.550_573delinsCACAGTATGAACATGATGGAGGCA (p.His184=)
c.481_504delinsCACAGTATGAACATGATGGAGGCA (p.His161=)
2g.202514909A>CCA350338765BMPR2c.551A>C (p.His184Pro)
c.482A>C (p.His161Pro)
2g.202514909A>GCA350338763BMPR2c.551A>G (p.His184Arg)
c.482A>G (p.His161Arg)
2g.202514909A>TCA350338761BMPR2c.551A>T (p.His184Leu)
c.482A>T (p.His161Leu)
2g.202514909dupCA2586971005BMPR2c.551dup (p.His184GlnfsTer16)
c.482dup (p.His161GlnfsTer16)
2g.202514909_202514931delCA645293805BMPR2c.551_573del (p.His184ArgfsTer8)
c.482_504del (p.His161ArgfsTer8)
 ClinVar dbSNP
2g.202514910C>ACA350338767BMPR2c.552C>A (p.His184Gln)
c.483C>A (p.His161Gln)
2g.202514910C>GCA350338770BMPR2c.552C>G (p.His184Gln)
c.483C>G (p.His161Gln)
2g.202514910C>TCA430838549BMPR2c.552C>T (p.His184=)
c.483C>T (p.His161=)
2g.202514911A=CA1321537852BMPR2c.553A= (p.Ser185=)
c.484A= (p.Ser162=)
2g.202514911A>CCA350338774BMPR2c.553A>C (p.Ser185Arg)
c.484A>C (p.Ser162Arg)

Number of alleles fetched