Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.202461237_202467808del	CA915941492	BMPR2	c.77-3572_418+119del	ClinVar
2	g.202462494_202466873del	CA915941493	BMPR2	c.77-2315_248-646del	ClinVar
2	g.202464852T>A	CA350399138	BMPR2	c.120T>A (p.Tyr40Ter) c.45T>A (p.Tyr15Ter) n.27T>A	ClinVar dbSNP
2	g.202464852T>C	CA430903597	BMPR2	c.120T>C (p.Tyr40=) c.45T>C (p.Tyr15=) n.27T>C
2	g.202464852T>G	CA119938	BMPR2	c.120T>G (p.Tyr40Ter) c.45T>G (p.Tyr15Ter) n.27T>G	ClinVar dbSNP
2	g.202464852T=	CA1321507556	BMPR2	c.120T= (p.Tyr40=) c.45T= (p.Tyr15=) n.27T=
2	g.202464853C>A	CA350399141	BMPR2	c.121C>A (p.Gln41Lys) c.46C>A (p.Gln16Lys) n.28C>A
2	g.202464853C>G	CA350399143	BMPR2	c.121C>G (p.Gln41Glu) c.46C>G (p.Gln16Glu) n.28C>G
2	g.202464853C>T	CA350399145	BMPR2	c.121C>T (p.Gln41Ter) c.46C>T (p.Gln16Ter) n.28C>T	COSMIC
2	g.202464854A>C	CA350399147	BMPR2	c.122A>C (p.Gln41Pro) c.47A>C (p.Gln16Pro) n.29A>C
2	g.202464854A>G	CA350399150	BMPR2	c.122A>G (p.Gln41Arg) c.47A>G (p.Gln16Arg) n.29A>G	gnomAD v4
2	g.202464854A>T	CA350399152	BMPR2	c.122A>T (p.Gln41Leu) c.47A>T (p.Gln16Leu) n.29A>T
2	g.202464855G>A	CA430903598	BMPR2	c.123G>A (p.Gln41=) c.48G>A (p.Gln16=) n.30G>A	gnomAD v4
2	g.202464855G>C	CA350399154	BMPR2	c.123G>C (p.Gln41His) c.48G>C (p.Gln16His) n.30G>C
2	g.202464855G>T	CA350399155	BMPR2	c.123G>T (p.Gln41His) c.48G>T (p.Gln16His) n.30G>T	dbSNP
2	g.202464856C>A	CA350399158	BMPR2	c.124C>A (p.Gln42Lys) c.49C>A (p.Gln17Lys) n.31C>A
2	g.202464856C=	CA1321507563	BMPR2	c.124C= (p.Gln42=) c.49C= (p.Gln17=) n.31C=
2	g.202464856C>G	CA350399160	BMPR2	c.124C>G (p.Gln42Glu) c.49C>G (p.Gln17Glu) n.31C>G	gnomAD v4
2	g.202464856C>T	CA350399161	BMPR2	c.124C>T (p.Gln42Ter) c.49C>T (p.Gln17Ter) n.31C>T	ClinVar dbSNP
2	g.202464857A=	CA1321507570	BMPR2	c.125A= (p.Gln42=) c.50A= (p.Gln17=) n.32A=
2	g.202464857A>C	CA350399168	BMPR2	c.125A>C (p.Gln42Pro) c.50A>C (p.Gln17Pro) n.32A>C
2	g.202464857A>G	CA350399166	BMPR2	c.125A>G (p.Gln42Arg) c.50A>G (p.Gln17Arg) n.32A>G	ClinVar dbSNP
2	g.202464857A>T	CA350399165	BMPR2	c.125A>T (p.Gln42Leu) c.50A>T (p.Gln17Leu) n.32A>T
2	g.202464858A>C	CA350399172	BMPR2	c.126A>C (p.Gln42His) c.51A>C (p.Gln17His) n.33A>C
2	g.202464858A>G	CA430903600	BMPR2	c.126A>G (p.Gln42=) c.51A>G (p.Gln17=) n.33A>G	gnomAD v4
2	g.202464858A>T	CA350399170	BMPR2	c.126A>T (p.Gln42His) c.51A>T (p.Gln17His) n.33A>T
2	g.202464859G>A	CA350399174	BMPR2	c.127G>A (p.Asp43Asn) c.52G>A (p.Asp18Asn) n.34G>A
2	g.202464859G>C	CA350399176	BMPR2	c.127G>C (p.Asp43His) c.52G>C (p.Asp18His) n.34G>C
2	g.202464859G>T	CA350399178	BMPR2	c.127G>T (p.Asp43Tyr) c.52G>T (p.Asp18Tyr) n.34G>T
2	g.202464860A>C	CA350399181	BMPR2	c.128A>C (p.Asp43Ala) c.53A>C (p.Asp18Ala) n.35A>C	gnomAD v4
2	g.202464860A>G	CA350399182	BMPR2	c.128A>G (p.Asp43Gly) c.53A>G (p.Asp18Gly) n.35A>G
2	g.202464860A>T	CA350399184	BMPR2	c.128A>T (p.Asp43Val) c.53A>T (p.Asp18Val) n.35A>T
2	g.202464861C>A	CA350399187	BMPR2	c.129C>A (p.Asp43Glu) c.54C>A (p.Asp18Glu) n.36C>A
2	g.202464861C>G	CA350399188	BMPR2	c.129C>G (p.Asp43Glu) c.54C>G (p.Asp18Glu) n.36C>G
2	g.202464861C>T	CA430903602	BMPR2	c.129C>T (p.Asp43=) c.54C>T (p.Asp18=) n.36C>T
2	g.202464862C>A	CA350399191	BMPR2	c.130C>A (p.Leu44Ile) c.55C>A (p.Leu19Ile) n.37C>A
2	g.202464862C>G	CA350399193	BMPR2	c.130C>G (p.Leu44Val) c.55C>G (p.Leu19Val) n.37C>G
2	g.202464862C>T	CA350399195	BMPR2	c.130C>T (p.Leu44Phe) c.55C>T (p.Leu19Phe) n.37C>T
2	g.202464863T>A	CA350399202	BMPR2	c.131T>A (p.Leu44His) c.56T>A (p.Leu19His) n.38T>A
2	g.202464863T>C	CA350399200	BMPR2	c.131T>C (p.Leu44Pro) c.56T>C (p.Leu19Pro) n.38T>C
2	g.202464863T>G	CA350399198	BMPR2	c.131T>G (p.Leu44Arg) c.56T>G (p.Leu19Arg) n.38T>G
2	g.202464864T>A	CA430903603	BMPR2	c.132T>A (p.Leu44=) c.57T>A (p.Leu19=) n.39T>A
2	g.202464864T>C	CA430903604	BMPR2	c.132T>C (p.Leu44=) c.57T>C (p.Leu19=) n.39T>C	gnomAD v4
2	g.202464864T>G	CA430903605	BMPR2	c.132T>G (p.Leu44=) c.57T>G (p.Leu19=) n.39T>G
2	g.202464865G>A	CA350399204	BMPR2	c.133G>A (p.Gly45Arg) c.58G>A (p.Gly20Arg) n.40G>A
2	g.202464865G>C	CA350399206	BMPR2	c.133G>C (p.Gly45Arg) c.58G>C (p.Gly20Arg) n.40G>C
2	g.202464865G>T	CA350399208	BMPR2	c.133G>T (p.Gly45Trp) c.58G>T (p.Gly20Trp) n.40G>T
2	g.202464867dup	CA2586965528	BMPR2	c.135dup (p.Ile46AspfsTer3) c.60dup (p.Ile21AspfsTer3) n.42dup
2	g.202464867del	CA2573134350	BMPR2	c.135del (p.Ile46Ter) c.60del (p.Ile21Ter) n.42del	ClinVar dbSNP
2	g.202464866G>A	CA350399211	BMPR2	c.134G>A (p.Gly45Glu) c.59G>A (p.Gly20Glu) n.41G>A

Number of alleles fetched