Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2326201C>A	CA394352683	ABCA3	c.128G>T (p.Arg43Leu) n.691G>T
16	g.2326201C=	CA2202169190	ABCA3	c.128G= (p.Arg43=) n.691G=
16	g.2326201C>G	CA394352685	ABCA3	c.128G>C (p.Arg43Pro) n.691G>C	dbSNP
16	g.2326201C>T	CA7841779	ABCA3	c.128G>A (p.Arg43His) n.691G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326202G>A	CA7841780	ABCA3	c.127C>T (p.Arg43Cys) n.690C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326202G>C	CA394352688	ABCA3	c.127C>G (p.Arg43Gly) n.690C>G
16	g.2326202G=	CA2202169195	ABCA3	c.127C= (p.Arg43=) n.690C=
16	g.2326202G>T	CA394352693	ABCA3	c.127C>A (p.Arg43Ser) n.690C>A	gnomAD v4
16	g.2326203G>A	CA493361922	ABCA3	c.126C>T (p.Leu42=) n.689C>T	dbSNP gnomAD v4
16	g.2326203G>C	CA493361923	ABCA3	c.126C>G (p.Leu42=) n.689C>G
16	g.2326203G=	CA2202169199	ABCA3	c.126C= (p.Leu42=) n.689C=
16	g.2326203G>T	CA493361924	ABCA3	c.126C>A (p.Leu42=) n.689C>A
16	g.2326204A>C	CA394352696	ABCA3	c.125T>G (p.Leu42Arg) n.688T>G
16	g.2326204A>G	CA394352697	ABCA3	c.125T>C (p.Leu42Pro) n.688T>C
16	g.2326204A>T	CA394352700	ABCA3	c.125T>A (p.Leu42His) n.688T>A
16	g.2326205G>A	CA394352703	ABCA3	c.124C>T (p.Leu42Phe) n.687C>T	gnomAD v4
16	g.2326205G>C	CA394352713	ABCA3	c.124C>G (p.Leu42Val) n.687C>G
16	g.2326205G>T	CA394352717	ABCA3	c.124C>A (p.Leu42Ile) n.687C>A
16	g.2326206C>A	CA394352722	ABCA3	c.123G>T (p.Trp41Cys) n.686G>T	gnomAD v4
16	g.2326206C>G	CA394352725	ABCA3	c.123G>C (p.Trp41Cys) n.686G>C	gnomAD v4
16	g.2326206C>T	CA394352729	ABCA3	c.123G>A (p.Trp41Ter) n.686G>A	gnomAD v4
16	g.2326207C>A	CA394352742	ABCA3	c.122G>T (p.Trp41Leu) n.685G>T
16	g.2326207C>G	CA394352741	ABCA3	c.122G>C (p.Trp41Ser) n.685G>C
16	g.2326207C>T	CA394352731	ABCA3	c.122G>A (p.Trp41Ter) n.685G>A
16	g.2326208A>C	CA394352743	ABCA3	c.121T>G (p.Trp41Gly) n.684T>G
16	g.2326208A>G	CA394352744	ABCA3	c.121T>C (p.Trp41Arg) n.684T>C
16	g.2326208A>T	CA394352745	ABCA3	c.121T>A (p.Trp41Arg) n.684T>A
16	g.2326209G>A	CA493361926	ABCA3	c.120C>T (p.Ile40=) n.683C>T
16	g.2326209G>C	CA394352748	ABCA3	c.120C>G (p.Ile40Met) n.683C>G	dbSNP gnomAD v4
16	g.2326209G=	CA2202169201	ABCA3	c.120C= (p.Ile40=) n.683C=
16	g.2326209G>T	CA493361925	ABCA3	c.120C>A (p.Ile40=) n.683C>A
16	g.2326210A=	CA2202169202	ABCA3	c.119T= (p.Ile40=) n.682T=
16	g.2326210A>C	CA394352753	ABCA3	c.119T>G (p.Ile40Ser) n.682T>G	gnomAD v4
16	g.2326210A>G	CA394352756	ABCA3	c.119T>C (p.Ile40Thr) n.682T>C	dbSNP gnomAD v2
16	g.2326210A>T	CA394352759	ABCA3	c.119T>A (p.Ile40Asn) n.682T>A
16	g.2326211T>A	CA394352762	ABCA3	c.118A>T (p.Ile40Phe) n.681A>T
16	g.2326211T>C	CA394352764	ABCA3	c.118A>G (p.Ile40Val) n.681A>G
16	g.2326211T>G	CA394352766	ABCA3	c.118A>C (p.Ile40Leu) n.681A>C
16	g.2326212G>A	CA493361927	ABCA3	c.117C>T (p.Leu39=) n.680C>T	dbSNP gnomAD v4
16	g.2326212G>C	CA493361929	ABCA3	c.117C>G (p.Leu39=) n.680C>G
16	g.2326212G=	CA2202169203	ABCA3	c.117C= (p.Leu39=) n.680C=
16	g.2326212G>T	CA493361928	ABCA3	c.117C>A (p.Leu39=) n.680C>A
16	g.2326213A>C	CA394352769	ABCA3	c.116T>G (p.Leu39Arg) n.679T>G
16	g.2326213A>G	CA394352772	ABCA3	c.116T>C (p.Leu39Pro) n.679T>C
16	g.2326213A>T	CA394352774	ABCA3	c.116T>A (p.Leu39His) n.679T>A
16	g.2326214G>A	CA7841781	ABCA3	c.115C>T (p.Leu39Phe) n.678C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326214G>C	CA7841782	ABCA3	c.115C>G (p.Leu39Val) n.678C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326214G=	CA2202169206	ABCA3	c.115C= (p.Leu39=) n.678C=
16	g.2326214G>T	CA276853867	ABCA3	c.115C>A (p.Leu39Ile) n.678C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2326215G>A	CA7841783	ABCA3	c.114C>T (p.Ile38=) n.677C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched