Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202515407_202524196delCA915941641BMPR2c.621+428_967+3995del
c.552+428_898+3995del
 ClinVar
2g.202518860C>ACA2061184BMPR2c.660C>A (p.Gly220=)
c.591C>A (p.Gly197=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518860C=CA1321539661BMPR2c.660C= (p.Gly220=)
c.591C= (p.Gly197=)
2g.202518860C>GCA430838931BMPR2c.660C>G (p.Gly220=)
c.591C>G (p.Gly197=)
2g.202518860C>TCA430838932BMPR2c.660C>T (p.Gly220=)
c.591C>T (p.Gly197=)
 dbSNP
2g.202518861T>ACA350340132BMPR2c.661T>A (p.Ser221Thr)
c.592T>A (p.Ser198Thr)
2g.202518861T>CCA350340133BMPR2c.661T>C (p.Ser221Pro)
c.592T>C (p.Ser198Pro)
2g.202518861T>GCA350340135BMPR2c.661T>G (p.Ser221Ala)
c.592T>G (p.Ser198Ala)
2g.202518862C>ACA350340138BMPR2c.662C>A (p.Ser221Tyr)
c.593C>A (p.Ser198Tyr)
2g.202518862C>GCA350340139BMPR2c.662C>G (p.Ser221Cys)
c.593C>G (p.Ser198Cys)
2g.202518862C>TCA350340141BMPR2c.662C>T (p.Ser221Phe)
c.593C>T (p.Ser198Phe)
 gnomAD v4
2g.202518863C>ACA430838936BMPR2c.663C>A (p.Ser221=)
c.594C>A (p.Ser198=)
2g.202518863C>GCA430838939BMPR2c.663C>G (p.Ser221=)
c.594C>G (p.Ser198=)
2g.202518863C>TCA430838940BMPR2c.663C>T (p.Ser221=)
c.594C>T (p.Ser198=)
 ClinVar dbSNP COSMIC
2g.202518863_202518865delinsCTTCA1321539662BMPR2c.663_665delinsCTT (p.Ser221=)
c.594_596delinsCTT (p.Ser198=)
2g.202518864T>ACA350340145BMPR2c.664T>A (p.Leu222Met)
c.595T>A (p.Leu199Met)
2g.202518864T>CCA430838941BMPR2c.664T>C (p.Leu222=)
c.595T>C (p.Leu199=)
2g.202518864T>GCA350340143BMPR2c.664T>G (p.Leu222Val)
c.595T>G (p.Leu199Val)
2g.202518864_202518865delinsAAGGCA645293809BMPR2c.664_665delinsAAGG (p.Leu222LysfsTer9)
c.595_596delinsAAGG (p.Leu199LysfsTer9)
 ClinVar dbSNP
2g.202518865T>ACA350340148BMPR2c.665T>A (p.Leu222Ter)
c.596T>A (p.Leu199Ter)
2g.202518865T>CCA350340150BMPR2c.665T>C (p.Leu222Ser)
c.596T>C (p.Leu199Ser)
 gnomAD v4
2g.202518865T>GCA350340149BMPR2c.665T>G (p.Leu222Trp)
c.596T>G (p.Leu199Trp)
 COSMIC
2g.202518866G>ACA430838944BMPR2c.666G>A (p.Leu222=)
c.597G>A (p.Leu199=)
2g.202518866G>CCA350340153BMPR2c.666G>C (p.Leu222Phe)
c.597G>C (p.Leu199Phe)
 dbSNP
2g.202518866G=CA1321539663BMPR2c.666G= (p.Leu222=)
c.597G= (p.Leu199=)
2g.202518866G>TCA350340155BMPR2c.666G>T (p.Leu222Phe)
c.597G>T (p.Leu199Phe)
 dbSNP gnomAD v4
2g.202518867G>ACA350340157BMPR2c.667G>A (p.Asp223Asn)
c.598G>A (p.Asp200Asn)
 dbSNP
2g.202518867G>CCA2061185BMPR2c.667G>C (p.Asp223His)
c.598G>C (p.Asp200His)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518867G=CA1321539664BMPR2c.667G= (p.Asp223=)
c.598G= (p.Asp200=)
2g.202518867G>TCA350340159BMPR2c.667G>T (p.Asp223Tyr)
c.598G>T (p.Asp200Tyr)
2g.202518868A=CA1321539665BMPR2c.668A= (p.Asp223=)
c.599A= (p.Asp200=)
2g.202518868A>CCA350340164BMPR2c.668A>C (p.Asp223Ala)
c.599A>C (p.Asp200Ala)
 dbSNP gnomAD v2 gnomAD v4
2g.202518868A>GCA350340163BMPR2c.668A>G (p.Asp223Gly)
c.599A>G (p.Asp200Gly)
 ClinVar dbSNP
2g.202518868A>TCA350340161BMPR2c.668A>T (p.Asp223Val)
c.599A>T (p.Asp200Val)
2g.202518869T>ACA350340167BMPR2c.669T>A (p.Asp223Glu)
c.600T>A (p.Asp200Glu)
2g.202518869T>CCA2061186BMPR2c.669T>C (p.Asp223=)
c.600T>C (p.Asp200=)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202518869T>GCA350340169BMPR2c.669T>G (p.Asp223Glu)
c.600T>G (p.Asp200Glu)
2g.202518869T=CA1321539666BMPR2c.669T= (p.Asp223=)
c.600T= (p.Asp200=)
2g.202518870G>ACA350340172BMPR2c.670G>A (p.Glu224Lys)
c.601G>A (p.Glu201Lys)
2g.202518870G>CCA350340173BMPR2c.670G>C (p.Glu224Gln)
c.601G>C (p.Glu201Gln)
 gnomAD v4
2g.202518870G>TCA350340174BMPR2c.670G>T (p.Glu224Ter)
c.601G>T (p.Glu201Ter)
2g.202518870_202518877delinsGAGCGTCCCA1321539667BMPR2c.670_677delinsGAGCGTCC (p.Glu224=)
c.601_608delinsGAGCGTCC (p.Glu201=)
2g.202518871A>CCA350340177BMPR2c.671A>C (p.Glu224Ala)
c.602A>C (p.Glu201Ala)
2g.202518871A>GCA350340180BMPR2c.671A>G (p.Glu224Gly)
c.602A>G (p.Glu201Gly)
2g.202518871A>TCA350340179BMPR2c.671A>T (p.Glu224Val)
c.602A>T (p.Glu201Val)
2g.202518873_202518879delCA645293810BMPR2c.673_679del (p.Arg225LeufsTer3)
c.604_610del (p.Arg202LeufsTer3)
 ClinVar dbSNP
2g.202518872G>ACA430838949BMPR2c.672G>A (p.Glu224=)
c.603G>A (p.Glu201=)
 ClinVar
2g.202518872G>CCA2061187BMPR2c.672G>C (p.Glu224Asp)
c.603G>C (p.Glu201Asp)
 dbSNP ExAC gnomAD v2
2g.202518872G=CA1321539668BMPR2c.672G= (p.Glu224=)
c.603G= (p.Glu201=)
2g.202518872G>TCA350340184BMPR2c.672G>T (p.Glu224Asp)
c.603G>T (p.Glu201Asp)

Number of alleles fetched