Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
10	g.86917294A=	CA1925725713	BMPR1A	c.836A= (p.Gln279=)
10	g.86917294A>C	CA377458641	BMPR1A	c.836A>C (p.Gln279Pro)	dbSNP gnomAD v2 gnomAD v4
10	g.86917294A>G	CA377458645	BMPR1A	c.836A>G (p.Gln279Arg)
10	g.86917294A>T	CA377458636	BMPR1A	c.836A>T (p.Gln279Leu)
10	g.86917295A>C	CA377458659	BMPR1A	c.837A>C (p.Gln279His)
10	g.86917295A>G	CA470308095	BMPR1A	c.837A>G (p.Gln279=)	gnomAD v3 gnomAD v4
10	g.86917295A>T	CA377458651	BMPR1A	c.837A>T (p.Gln279His)
10	g.86917296A>C	CA377458664	BMPR1A	c.838A>C (p.Thr280Pro)
10	g.86917296A>G	CA377458666	BMPR1A	c.838A>G (p.Thr280Ala)
10	g.86917296A>T	CA377458669	BMPR1A	c.838A>T (p.Thr280Ser)
10	g.86917297C>A	CA377458675	BMPR1A	c.839C>A (p.Thr280Asn)	dbSNP
10	g.86917297C=	CA1925725714	BMPR1A	c.839C= (p.Thr280=)
10	g.86917297C>G	CA16619006	BMPR1A	c.839C>G (p.Thr280Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.86917297C>T	CA377458683	BMPR1A	c.839C>T (p.Thr280Ile)
10	g.86917298T>A	CA470308096	BMPR1A	c.840T>A (p.Thr280=)
10	g.86917298T>C	CA211207093	BMPR1A	c.840T>C (p.Thr280=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.86917298T>G	CA470308097	BMPR1A	c.840T>G (p.Thr280=)	gnomAD v4
10	g.86917298T=	CA1925725715	BMPR1A	c.840T= (p.Thr280=)
10	g.86917300_86917301del	CA2697558525	BMPR1A	c.842_843del (p.Val281AlafsTer5)	ClinVar
10	g.86917299G>A	CA211207097	BMPR1A	c.841G>A (p.Val281Met)	ClinVar dbSNP gnomAD v4
10	g.86917299G>C	CA377458695	BMPR1A	c.841G>C (p.Val281Leu)	ClinVar dbSNP gnomAD v3 gnomAD v4
10	g.86917299G=	CA1925725716	BMPR1A	c.841G= (p.Val281=)
10	g.86917299G>T	CA377458696	BMPR1A	c.841G>T (p.Val281Leu)
10	g.86917300T>A	CA377458697	BMPR1A	c.842T>A (p.Val281Glu)
10	g.86917300T>C	CA377458699	BMPR1A	c.842T>C (p.Val281Ala)	ClinVar
10	g.86917300T>G	CA377458701	BMPR1A	c.842T>G (p.Val281Gly)
10	g.86917301G>A	CA470308098	BMPR1A	c.843G>A (p.Val281=)	ClinVar dbSNP
10	g.86917301G>C	CA470308099	BMPR1A	c.843G>C (p.Val281=)
10	g.86917301G>T	CA470308100	BMPR1A	c.843G>T (p.Val281=)
10	g.86917302C>A	CA377458708	BMPR1A	c.844C>A (p.Leu282Ile)
10	g.86917302C=	CA1925725717	BMPR1A	c.844C= (p.Leu282=)
10	g.86917302C>G	CA377458710	BMPR1A	c.844C>G (p.Leu282Val)
10	g.86917302C>T	CA470308101	BMPR1A	c.844C>T (p.Leu282=)	ClinVar dbSNP
10	g.86917303T>A	CA377458718	BMPR1A	c.845T>A (p.Leu282Gln)
10	g.86917303T>C	CA377458721	BMPR1A	c.845T>C (p.Leu282Pro)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
10	g.86917303T>G	CA377458725	BMPR1A	c.845T>G (p.Leu282Arg)	ClinVar
10	g.86917303T=	CA1925725718	BMPR1A	c.845T= (p.Leu282=)
10	g.86917304A=	CA1925725719	BMPR1A	c.846A= (p.Leu282=)
10	g.86917304A>C	CA470308102	BMPR1A	c.846A>C (p.Leu282=)
10	g.86917304A>G	CA470308103	BMPR1A	c.846A>G (p.Leu282=)	ClinVar dbSNP gnomAD v4
10	g.86917304A>T	CA470308104	BMPR1A	c.846A>T (p.Leu282=)	ClinVar
10	g.86917305dup	CA891843414	BMPR1A	c.847dup (p.Met283AsnfsTer4)	ClinVar dbSNP
10	g.86917305A>C	CA377458730	BMPR1A	c.847A>C (p.Met283Leu)
10	g.86917305A>G	CA377458739	BMPR1A	c.847A>G (p.Met283Val)
10	g.86917305A>T	CA377458742	BMPR1A	c.847A>T (p.Met283Leu)
10	g.86917306T>A	CA377458745	BMPR1A	c.848T>A (p.Met283Lys)
10	g.86917306T>C	CA377458749	BMPR1A	c.848T>C (p.Met283Thr)
10	g.86917306T>G	CA377458750	BMPR1A	c.848T>G (p.Met283Arg)
10	g.86917307G>A	CA377458754	BMPR1A	c.849G>A (p.Met283Ile)
10	g.86917307G>C	CA377458756	BMPR1A	c.849G>C (p.Met283Ile)

Number of alleles fetched