Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.202508280_202517537delCA915941637BMPR2c.419-5439_622-1285del
c.350-5439_553-1285del
 ClinVar
2g.202513782T>ACA350338192BMPR2c.482T>A (p.Leu161Ter)
c.413T>A (p.Leu138Ter)
 ClinVar dbSNP
2g.202513782T>CCA350338194BMPR2c.482T>C (p.Leu161Ser)
c.413T>C (p.Leu138Ser)
 dbSNP gnomAD v4
2g.202513782T>GCA350338197BMPR2c.482T>G (p.Leu161Ter)
c.413T>G (p.Leu138Ter)
2g.202513782T=CA1321537327BMPR2c.482T= (p.Leu161=)
c.413T= (p.Leu138=)
2g.202513783A>CCA350338200BMPR2c.483A>C (p.Leu161Phe)
c.414A>C (p.Leu138Phe)
2g.202513783A>GCA430838433BMPR2c.483A>G (p.Leu161=)
c.414A>G (p.Leu138=)
2g.202513783A>TCA350338202BMPR2c.483A>T (p.Leu161Phe)
c.414A>T (p.Leu138Phe)
2g.202513784G>ACA64012047BMPR2c.484G>A (p.Ala162Thr)
c.415G>A (p.Ala139Thr)
 dbSNP gnomAD v3 gnomAD v4
2g.202513784G>CCA350338210BMPR2c.484G>C (p.Ala162Pro)
c.415G>C (p.Ala139Pro)
2g.202513784G=CA1321537328BMPR2c.484G= (p.Ala162=)
c.415G= (p.Ala139=)
2g.202513784G>TCA350338205BMPR2c.484G>T (p.Ala162Ser)
c.415G>T (p.Ala139Ser)
2g.202513785C>ACA350338213BMPR2c.485C>A (p.Ala162Asp)
c.416C>A (p.Ala139Asp)
2g.202513785C>GCA350338216BMPR2c.485C>G (p.Ala162Gly)
c.416C>G (p.Ala139Gly)
2g.202513785C>TCA350338218BMPR2c.485C>T (p.Ala162Val)
c.416C>T (p.Ala139Val)
2g.202513786T>ACA430838434BMPR2c.486T>A (p.Ala162=)
c.417T>A (p.Ala139=)
2g.202513786T>CCA430838435BMPR2c.486T>C (p.Ala162=)
c.417T>C (p.Ala139=)
2g.202513786T>GCA430838436BMPR2c.486T>G (p.Ala162=)
c.417T>G (p.Ala139=)
2g.202513787G>ACA350338222BMPR2c.487G>A (p.Val163Ile)
c.418G>A (p.Val140Ile)
2g.202513787G>CCA350338225BMPR2c.487G>C (p.Val163Leu)
c.418G>C (p.Val140Leu)
2g.202513787G>TCA350338226BMPR2c.487G>T (p.Val163Phe)
c.418G>T (p.Val140Phe)
2g.202513788T>ACA350338229BMPR2c.488T>A (p.Val163Asp)
c.419T>A (p.Val140Asp)
2g.202513788T>CCA350338231BMPR2c.488T>C (p.Val163Ala)
c.419T>C (p.Val140Ala)
2g.202513788T>GCA350338233BMPR2c.488T>G (p.Val163Gly)
c.419T>G (p.Val140Gly)
2g.202513791delCA2586971003BMPR2c.491del (p.Leu164Ter)
c.422del (p.Leu141Ter)
2g.202513789T>ACA430838437BMPR2c.489T>A (p.Val163=)
c.420T>A (p.Val140=)
 gnomAD v4
2g.202513789T>CCA2061132BMPR2c.489T>C (p.Val163=)
c.420T>C (p.Val140=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513789T>GCA430838438BMPR2c.489T>G (p.Val163=)
c.420T>G (p.Val140=)
2g.202513789T=CA1321537329BMPR2c.489T= (p.Val163=)
c.420T= (p.Val140=)
2g.202513790T>ACA350338238BMPR2c.490T>A (p.Leu164Met)
c.421T>A (p.Leu141Met)
2g.202513790T>CCA430838439BMPR2c.490T>C (p.Leu164=)
c.421T>C (p.Leu141=)
 ClinVar dbSNP
2g.202513790T>GCA350338240BMPR2c.490T>G (p.Leu164Val)
c.421T>G (p.Leu141Val)
2g.202513790T=CA1321537330BMPR2c.490T= (p.Leu164=)
c.421T= (p.Leu141=)
2g.202513791T>ACA350338242BMPR2c.491T>A (p.Leu164Ter)
c.422T>A (p.Leu141Ter)
2g.202513791T>CCA350338245BMPR2c.491T>C (p.Leu164Ser)
c.422T>C (p.Leu141Ser)
2g.202513791T>GCA350338248BMPR2c.491T>G (p.Leu164Trp)
c.422T>G (p.Leu141Trp)
2g.202513792G>ACA430838441BMPR2c.492G>A (p.Leu164=)
c.423G>A (p.Leu141=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.202513792G>CCA350338251BMPR2c.492G>C (p.Leu164Phe)
c.423G>C (p.Leu141Phe)
 dbSNP gnomAD v2
2g.202513792G=CA1321537331BMPR2c.492G= (p.Leu164=)
c.423G= (p.Leu141=)
2g.202513792G>TCA350338252BMPR2c.492G>T (p.Leu164Phe)
c.423G>T (p.Leu141Phe)
 gnomAD v4
2g.202513793A>CCA350338255BMPR2c.493A>C (p.Ile165Leu)
c.424A>C (p.Ile142Leu)
2g.202513793A>GCA350338257BMPR2c.493A>G (p.Ile165Val)
c.424A>G (p.Ile142Val)
2g.202513793A>TCA350338260BMPR2c.493A>T (p.Ile165Leu)
c.424A>T (p.Ile142Leu)
2g.202513794T>ACA2061133BMPR2c.494T>A (p.Ile165Lys)
c.425T>A (p.Ile142Lys)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.202513794T>CCA350338264BMPR2c.494T>C (p.Ile165Thr)
c.425T>C (p.Ile142Thr)
 gnomAD v4
2g.202513794T>GCA350338266BMPR2c.494T>G (p.Ile165Arg)
c.425T>G (p.Ile142Arg)
2g.202513794T=CA1321537332BMPR2c.494T= (p.Ile165=)
c.425T= (p.Ile142=)
2g.202513795A>CCA430838463BMPR2c.495A>C (p.Ile165=)
c.426A>C (p.Ile142=)
2g.202513795A>GCA350338268BMPR2c.495A>G (p.Ile165Met)
c.426A>G (p.Ile142Met)
2g.202513795A>TCA430838464BMPR2c.495A>T (p.Ile165=)
c.426A>T (p.Ile142=)

Number of alleles fetched