Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202518886_202518893delinsTAAAAGTGCA1321539679BMPR2c.686_693delinsTAAAAGTG (p.Val229=)
c.617_624delinsTAAAAGTG (p.Val206=)
2g.202518890delCA430838978BMPR2c.690del (p.Val231CysfsTer21)
c.621del (p.Val208CysfsTer21)
 COSMIC
2g.202518889_202518890delCA645293811BMPR2c.689_690del (p.Lys230SerfsTer25)
c.620_621del (p.Lys207SerfsTer25)
 ClinVar dbSNP
2g.202518887_202518893delCA915941644BMPR2c.687_693del (p.Lys230PhefsTer20)
c.618_624del (p.Lys207PhefsTer20)
 ClinVar dbSNP
2g.202518889_202518891delinsAAGCA1321539680BMPR2c.689_691delinsAAG (p.Lys230=)
c.620_622delinsAAG (p.Lys207=)
2g.202518890A=CA1321539682BMPR2c.690A= (p.Lys230=)
c.621A= (p.Lys207=)
2g.202518890A>CCA350340258BMPR2c.690A>C (p.Lys230Asn)
c.621A>C (p.Lys207Asn)
2g.202518890A>GCA430838983BMPR2c.690A>G (p.Lys230=)
c.621A>G (p.Lys207=)
2g.202518890A>TCA350340260BMPR2c.690A>T (p.Lys230Asn)
c.621A>T (p.Lys207Asn)
 ClinVar dbSNP COSMIC
2g.202518890_202518891delinsTCA645293812BMPR2c.690_691delinsT (p.Lys230AsnfsTer22)
c.621_622delinsT (p.Lys207AsnfsTer22)
 ClinVar dbSNP
2g.202518890_202518891delinsAGCA1321539681BMPR2c.690_691delinsAG (p.Lys230=)
c.621_622delinsAG (p.Lys207=)
2g.202518891delCA915941645BMPR2c.691del (p.Val231CysfsTer21)
c.622del (p.Val208CysfsTer21)
 ClinVar dbSNP
2g.202518891G>ACA350340264BMPR2c.691G>A (p.Val231Met)
c.622G>A (p.Val208Met)
2g.202518891G>CCA350340267BMPR2c.691G>C (p.Val231Leu)
c.622G>C (p.Val208Leu)
2g.202518891G>TCA350340262BMPR2c.691G>T (p.Val231Leu)
c.622G>T (p.Val208Leu)
 gnomAD v4
2g.202518892T>ACA350340272BMPR2c.692T>A (p.Val231Glu)
c.623T>A (p.Val208Glu)
2g.202518892T>CCA350340269BMPR2c.692T>C (p.Val231Ala)
c.623T>C (p.Val208Ala)
2g.202518892T>GCA350340270BMPR2c.692T>G (p.Val231Gly)
c.623T>G (p.Val208Gly)
2g.202518893G>ACA430838987BMPR2c.693G>A (p.Val231=)
c.624G>A (p.Val208=)
 dbSNP gnomAD v2 gnomAD v4
2g.202518893G>CCA430838988BMPR2c.693G>C (p.Val231=)
c.624G>C (p.Val208=)
2g.202518893G=CA1321539683BMPR2c.693G= (p.Val231=)
c.624G= (p.Val208=)
2g.202518893G>TCA430838989BMPR2c.693G>T (p.Val231=)
c.624G>T (p.Val208=)
2g.202518894T>ACA350340274BMPR2c.694T>A (p.Phe232Ile)
c.625T>A (p.Phe209Ile)
2g.202518894T>CCA350340275BMPR2c.694T>C (p.Phe232Leu)
c.625T>C (p.Phe209Leu)
 dbSNP
2g.202518894T>GCA350340277BMPR2c.694T>G (p.Phe232Val)
c.625T>G (p.Phe209Val)
2g.202518894T=CA1321539684BMPR2c.694T= (p.Phe232=)
c.625T= (p.Phe209=)
2g.202518897delCA645532629BMPR2c.697del (p.Ser233ProfsTer19)
c.628del (p.Ser210ProfsTer19)
 dbSNP COSMIC
2g.202518895T>ACA350340279BMPR2c.695T>A (p.Phe232Tyr)
c.626T>A (p.Phe209Tyr)
2g.202518895T>CCA350340281BMPR2c.695T>C (p.Phe232Ser)
c.626T>C (p.Phe209Ser)
 gnomAD v4
2g.202518895T>GCA350340283BMPR2c.695T>G (p.Phe232Cys)
c.626T>G (p.Phe209Cys)
2g.202518896T>ACA350340285BMPR2c.696T>A (p.Phe232Leu)
c.627T>A (p.Phe209Leu)
2g.202518896T>CCA430838990BMPR2c.696T>C (p.Phe232=)
c.627T>C (p.Phe209=)
 gnomAD v4
2g.202518896T>GCA350340286BMPR2c.696T>G (p.Phe232Leu)
c.627T>G (p.Phe209Leu)
 dbSNP
2g.202518896T=CA1321539685BMPR2c.696T= (p.Phe232=)
c.627T= (p.Phe209=)
2g.202518897T>ACA350340289BMPR2c.697T>A (p.Ser233Thr)
c.628T>A (p.Ser210Thr)
 dbSNP
2g.202518897T>CCA350340291BMPR2c.697T>C (p.Ser233Pro)
c.628T>C (p.Ser210Pro)
2g.202518897T>GCA350340292BMPR2c.697T>G (p.Ser233Ala)
c.628T>G (p.Ser210Ala)
2g.202518897T=CA1321539686BMPR2c.697T= (p.Ser233=)
c.628T= (p.Ser210=)
2g.202518897_202518898insAAAGAAAGCAAGGTATTAATATCACA2701463853BMPR2c.697_698insAAAGAAAGCAAGGTATTAATATCA (p.Ser233Ter)
c.628_629insAAAGAAAGCAAGGTATTAATATCA (p.Ser210Ter)
 dbSNP
2g.202518898C>ACA350340298BMPR2c.698C>A (p.Ser233Tyr)
c.629C>A (p.Ser210Tyr)
2g.202518898C>GCA350340294BMPR2c.698C>G (p.Ser233Cys)
c.629C>G (p.Ser210Cys)
2g.202518898C>TCA350340296BMPR2c.698C>T (p.Ser233Phe)
c.629C>T (p.Ser210Phe)
 dbSNP gnomAD v4 COSMIC
2g.202518899C>ACA430838994BMPR2c.699C>A (p.Ser233=)
c.630C>A (p.Ser210=)
2g.202518899C>GCA430838998BMPR2c.699C>G (p.Ser233=)
c.630C>G (p.Ser210=)
2g.202518899C>TCA430838995BMPR2c.699C>T (p.Ser233=)
c.630C>T (p.Ser210=)
 dbSNP
2g.202518900T>ACA350340300BMPR2c.700T>A (p.Phe234Ile)
c.631T>A (p.Phe211Ile)
 gnomAD v4
2g.202518900T>CCA350340302BMPR2c.700T>C (p.Phe234Leu)
c.631T>C (p.Phe211Leu)
 gnomAD v4
2g.202518900T>GCA350340304BMPR2c.700T>G (p.Phe234Val)
c.631T>G (p.Phe211Val)
2g.202518901T>ACA350340306BMPR2c.701T>A (p.Phe234Tyr)
c.632T>A (p.Phe211Tyr)

Number of alleles fetched