Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.202369396_202377723del	CA1139657640			ClinVar
2	g.202373247_202381017del	CA915942366			ClinVar
2	g.202377497_202377513delinsCCTGGCGGGTGCCCTGG	CA1321474677	BMPR2	c.23_39delinsCCTGGCGGGTGCCCTGG (p.Pro8=)
2	g.202377500_202377515del	CA915942368	BMPR2	c.26_41del (p.Trp9TyrfsTer?)	ClinVar dbSNP
2	g.202377513G>A	CA350396653	BMPR2	c.39G>A (p.Trp13Ter)	ClinVar dbSNP
2	g.202377513G>C	CA350396654	BMPR2	c.39G>C (p.Trp13Cys)	dbSNP gnomAD v3 gnomAD v4
2	g.202377513G=	CA1321474688	BMPR2	c.39G= (p.Trp13=)
2	g.202377513G>T	CA350396656	BMPR2	c.39G>T (p.Trp13Cys)
2	g.202377514C>A	CA350396658	BMPR2	c.40C>A (p.Leu14Ile)
2	g.202377514C=	CA1321474689	BMPR2	c.40C= (p.Leu14=)
2	g.202377514C>G	CA2061001	BMPR2	c.40C>G (p.Leu14Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377514C>T	CA430893050	BMPR2	c.40C>T (p.Leu14=)	dbSNP
2	g.202377515T>A	CA350396665	BMPR2	c.41T>A (p.Leu14Gln)
2	g.202377515T>C	CA350396661	BMPR2	c.41T>C (p.Leu14Pro)
2	g.202377515T>G	CA350396663	BMPR2	c.41T>G (p.Leu14Arg)
2	g.202377516A>C	CA430893065	BMPR2	c.42A>C (p.Leu14=)	gnomAD v4
2	g.202377516A>G	CA430893067	BMPR2	c.42A>G (p.Leu14=)
2	g.202377516A>T	CA430893068	BMPR2	c.42A>T (p.Leu14=)
2	g.202377516_202377517delinsAC	CA1321474690	BMPR2	c.42_43delinsAC (p.Leu14=)
2	g.202377517C>A	CA350396668	BMPR2	c.43C>A (p.Pro15Thr)
2	g.202377517C>G	CA350396669	BMPR2	c.43C>G (p.Pro15Ala)
2	g.202377517C>T	CA350396672	BMPR2	c.43C>T (p.Pro15Ser)
2	g.202377518del	CA149750	BMPR2	c.44del (p.Pro15HisfsTer?)	ClinVar dbSNP
2	g.202377518C>A	CA350396674	BMPR2	c.44C>A (p.Pro15Gln)
2	g.202377518C=	CA1321474691	BMPR2	c.44C= (p.Pro15=)
2	g.202377518C>G	CA350396675	BMPR2	c.44C>G (p.Pro15Arg)
2	g.202377518C>T	CA350396677	BMPR2	c.44C>T (p.Pro15Leu)	dbSNP gnomAD v2 gnomAD v4
2	g.202377519del	CA2586970992	BMPR2	c.45del (p.Trp16GlyfsTer?)
2	g.202377519A=	CA1321474692	BMPR2	c.45A= (p.Pro15=)
2	g.202377519A>C	CA430893080	BMPR2	c.45A>C (p.Pro15=)
2	g.202377519A>G	CA430893082	BMPR2	c.45A>G (p.Pro15=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377519A>T	CA430893084	BMPR2	c.45A>T (p.Pro15=)
2	g.202377520T>A	CA350396680	BMPR2	c.46T>A (p.Trp16Arg)
2	g.202377520T>C	CA350396682	BMPR2	c.46T>C (p.Trp16Arg)	COSMIC
2	g.202377520T>G	CA350396683	BMPR2	c.46T>G (p.Trp16Gly)
2	g.202377521G>A	CA350396688	BMPR2	c.47G>A (p.Trp16Ter)	ClinVar dbSNP
2	g.202377521G>C	CA350396689	BMPR2	c.47G>C (p.Trp16Ser)
2	g.202377521G=	CA1321474693	BMPR2	c.47G= (p.Trp16=)
2	g.202377521G>T	CA350396686	BMPR2	c.47G>T (p.Trp16Leu)
2	g.202377522G>A	CA350396691	BMPR2	c.48G>A (p.Trp16Ter)	ClinVar dbSNP COSMIC
2	g.202377522G>C	CA350396693	BMPR2	c.48G>C (p.Trp16Cys)
2	g.202377522G=	CA1321474694	BMPR2	c.48G= (p.Trp16=)
2	g.202377522G>T	CA350396694	BMPR2	c.48G>T (p.Trp16Cys)
2	g.202377523del	CA2586970993	BMPR2	c.49del (p.Thr17ProfsTer30)
2	g.202377523A=	CA1321474695	BMPR2	c.49A= (p.Thr17=)
2	g.202377523A>C	CA350396696	BMPR2	c.49A>C (p.Thr17Pro)
2	g.202377523A>G	CA2061002	BMPR2	c.49A>G (p.Thr17Ala)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.202377523A>T	CA2061003	BMPR2	c.49A>T (p.Thr17Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.202377524C>A	CA350396700	BMPR2	c.50C>A (p.Thr17Asn)	gnomAD v4
2	g.202377524C>G	CA350396702	BMPR2	c.50C>G (p.Thr17Ser)

Number of alleles fetched