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.202464846T>A	CA350399110	BMPR2	c.114T>A (p.Asp38Glu) c.39T>A (p.Asp13Glu) n.21T>A
2	g.202464846T>C	CA430903590	BMPR2	c.114T>C (p.Asp38=) c.39T>C (p.Asp13=) n.21T>C	dbSNP gnomAD v2 gnomAD v4
2	g.202464846T>G	CA350399112	BMPR2	c.114T>G (p.Asp38Glu) c.39T>G (p.Asp13Glu) n.21T>G
2	g.202464846T=	CA1321507540	BMPR2	c.114T= (p.Asp38=) c.39T= (p.Asp13=) n.21T=
2	g.202464846_202464847delinsTC	CA1321507539	BMPR2	c.114_115delinsTC (p.Asp38=) c.39_40delinsTC (p.Asp13=) n.21_22delinsTC
2	g.202464847C>A	CA350399115	BMPR2	c.115C>A (p.Pro39Thr) c.40C>A (p.Pro14Thr) n.22C>A
2	g.202464847C=	CA1321507545	BMPR2	c.115C= (p.Pro39=) c.40C= (p.Pro14=) n.22C=
2	g.202464847C>G	CA350399116	BMPR2	c.115C>G (p.Pro39Ala) c.40C>G (p.Pro14Ala) n.22C>G
2	g.202464847C>T	CA350399118	BMPR2	c.115C>T (p.Pro39Ser) c.40C>T (p.Pro14Ser) n.22C>T	dbSNP gnomAD v2 gnomAD v4 COSMIC
2	g.202464848del	CA645293990	BMPR2	c.116del (p.Pro39ArgfsTer8) c.41del (p.Pro14ArgfsTer8) n.23del	ClinVar dbSNP
2	g.202464848C>A	CA350399121	BMPR2	c.116C>A (p.Pro39Gln) c.41C>A (p.Pro14Gln) n.23C>A
2	g.202464848C=	CA1321507548	BMPR2	c.116C= (p.Pro39=) c.41C= (p.Pro14=) n.23C=
2	g.202464848C>G	CA350399122	BMPR2	c.116C>G (p.Pro39Arg) c.41C>G (p.Pro14Arg) n.23C>G
2	g.202464848C>T	CA2061039	BMPR2	c.116C>T (p.Pro39Leu) c.41C>T (p.Pro14Leu) n.23C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.202464849del	CA2586965526	BMPR2	c.117del (p.Tyr40IlefsTer7) c.42del (p.Tyr15IlefsTer7) n.24del
2	g.202464849G>A	CA2061040	BMPR2	c.117G>A (p.Pro39=) c.42G>A (p.Pro14=) n.24G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202464849G>C	CA430903593	BMPR2	c.117G>C (p.Pro39=) c.42G>C (p.Pro14=) n.24G>C	gnomAD v4
2	g.202464849G=	CA1321507551	BMPR2	c.117G= (p.Pro39=) c.42G= (p.Pro14=) n.24G=
2	g.202464849G>T	CA430903594	BMPR2	c.117G>T (p.Pro39=) c.42G>T (p.Pro14=) n.24G>T
2	g.202464850T>A	CA350399127	BMPR2	c.118T>A (p.Tyr40Asn) c.43T>A (p.Tyr15Asn) n.25T>A
2	g.202464850T>C	CA350399129	BMPR2	c.118T>C (p.Tyr40His) c.43T>C (p.Tyr15His) n.25T>C
2	g.202464850T>G	CA350399130	BMPR2	c.118T>G (p.Tyr40Asp) c.43T>G (p.Tyr15Asp) n.25T>G
2	g.202464850dup	CA2586965527	BMPR2	c.118dup (p.Tyr40LeufsTer9) c.43dup (p.Tyr15LeufsTer9) n.25dup
2	g.202464851A>C	CA350399133	BMPR2	c.119A>C (p.Tyr40Ser) c.44A>C (p.Tyr15Ser) n.26A>C
2	g.202464851A>G	CA350399135	BMPR2	c.119A>G (p.Tyr40Cys) c.44A>G (p.Tyr15Cys) n.26A>G
2	g.202464851A>T	CA350399136	BMPR2	c.119A>T (p.Tyr40Phe) c.44A>T (p.Tyr15Phe) n.26A>T
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

Number of alleles fetched