Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2326109G>A	CA394352225	ABCA3	c.220C>T (p.Pro74Ser) n.783C>T	dbSNP gnomAD v2 gnomAD v4
16	g.2326109G>C	CA394352229	ABCA3	c.220C>G (p.Pro74Ala) n.783C>G
16	g.2326109G=	CA2202173466	ABCA3	c.220C= (p.Pro74=) n.783C=
16	g.2326109G>T	CA394352227	ABCA3	c.220C>A (p.Pro74Thr) n.783C>A	COSMIC
16	g.2326110C>A	CA276853752	ABCA3	c.219G>T (p.Pro73=) n.782G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326110C=	CA2202173471	ABCA3	c.219G= (p.Pro73=) n.782G=
16	g.2326110C>G	CA493361770	ABCA3	c.219G>C (p.Pro73=) n.782G>C
16	g.2326110C>T	CA7841759	ABCA3	c.219G>A (p.Pro73=) n.782G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326110dup	CA719179515	ABCA3	c.219dup (p.Pro74AlafsTer15) n.782dup	dbSNP
16	g.2326111G>A	CA7841760	ABCA3	c.218C>T (p.Pro73Leu) n.781C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326111G>C	CA394352236	ABCA3	c.218C>G (p.Pro73Arg) n.781C>G
16	g.2326111G=	CA2202173478	ABCA3	c.218C= (p.Pro73=) n.781C=
16	g.2326111G>T	CA394352238	ABCA3	c.218C>A (p.Pro73Gln) n.781C>A
16	g.2326112G>A	CA7841761	ABCA3	c.217C>T (p.Pro73Ser) n.780C>T	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.2326112G>C	CA394352242	ABCA3	c.217C>G (p.Pro73Ala) n.780C>G
16	g.2326112G=	CA2202173483	ABCA3	c.217C= (p.Pro73=) n.780C=
16	g.2326112G>T	CA7841762	ABCA3	c.217C>A (p.Pro73Thr) n.780C>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326113A=	CA2202173488	ABCA3	c.216T= (p.Pro72=) n.779T=
16	g.2326113A>C	CA493361779	ABCA3	c.216T>G (p.Pro72=) n.779T>G
16	g.2326113A>G	CA493361781	ABCA3	c.216T>C (p.Pro72=) n.779T>C
16	g.2326113A>T	CA493361782	ABCA3	c.216T>A (p.Pro72=) n.779T>A
16	g.2326114G>A	CA276853777	ABCA3	c.215C>T (p.Pro72Leu) n.778C>T	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.2326114G>C	CA394352248	ABCA3	c.215C>G (p.Pro72Arg) n.778C>G	gnomAD v4 COSMIC
16	g.2326114G=	CA2202173493	ABCA3	c.215C= (p.Pro72=) n.778C=
16	g.2326114G>T	CA394352249	ABCA3	c.215C>A (p.Pro72His) n.778C>A
16	g.2326116dup	CA2202173494	ABCA3	c.215dup (p.Pro73SerfsTer16) n.778dup	dbSNP
16	g.2326115G>A	CA394352250	ABCA3	c.214C>T (p.Pro72Ser) n.777C>T	dbSNP gnomAD v3 gnomAD v4
16	g.2326115G>C	CA394352255	ABCA3	c.214C>G (p.Pro72Ala) n.777C>G
16	g.2326115G=	CA2202173499	ABCA3	c.214C= (p.Pro72=) n.777C=
16	g.2326115G>T	CA394352252	ABCA3	c.214C>A (p.Pro72Thr) n.777C>A	gnomAD v4
16	g.2326116G>A	CA7841763	ABCA3	c.213C>T (p.Phe71=) n.776C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326116G>C	CA394352257	ABCA3	c.213C>G (p.Phe71Leu) n.776C>G
16	g.2326116G=	CA2202173503	ABCA3	c.213C= (p.Phe71=) n.776C=
16	g.2326116G>T	CA394352260	ABCA3	c.213C>A (p.Phe71Leu) n.776C>A
16	g.2326117A>C	CA394352262	ABCA3	c.212T>G (p.Phe71Cys) n.775T>G
16	g.2326117A>G	CA394352264	ABCA3	c.212T>C (p.Phe71Ser) n.775T>C
16	g.2326117A>T	CA394352266	ABCA3	c.212T>A (p.Phe71Tyr) n.775T>A
16	g.2326118A>C	CA394352268	ABCA3	c.211T>G (p.Phe71Val) n.774T>G
16	g.2326118A>G	CA394352271	ABCA3	c.211T>C (p.Phe71Leu) n.774T>C	gnomAD v4
16	g.2326118A>T	CA394352274	ABCA3	c.211T>A (p.Phe71Ile) n.774T>A
16	g.2326119G>A	CA493361800	ABCA3	c.210C>T (p.Thr70=) n.773C>T	dbSNP gnomAD v4
16	g.2326119G>C	CA493361801	ABCA3	c.210C>G (p.Thr70=) n.773C>G	dbSNP gnomAD v2
16	g.2326119G=	CA2202173508	ABCA3	c.210C= (p.Thr70=) n.773C=
16	g.2326119G>T	CA493361803	ABCA3	c.210C>A (p.Thr70=) n.773C>A
16	g.2326120G>A	CA394352277	ABCA3	c.209C>T (p.Thr70Ile) n.772C>T
16	g.2326120G>C	CA394352280	ABCA3	c.209C>G (p.Thr70Ser) n.772C>G
16	g.2326120G>T	CA394352276	ABCA3	c.209C>A (p.Thr70Asn) n.772C>A
16	g.2326121T>A	CA394352281	ABCA3	c.208A>T (p.Thr70Ser) n.771A>T
16	g.2326121T>C	CA394352284	ABCA3	c.208A>G (p.Thr70Ala) n.771A>G
16	g.2326121T>G	CA394352286	ABCA3	c.208A>C (p.Thr70Pro) n.771A>C	dbSNP

Number of alleles fetched