Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2326101G>A	CA493361736	ABCA3	c.228C>T (p.Asp76=) n.791C>T
16	g.2326101G>C	CA394352189	ABCA3	c.228C>G (p.Asp76Glu) n.791C>G
16	g.2326101G>T	CA394352190	ABCA3	c.228C>A (p.Asp76Glu) n.791C>A	gnomAD v4
16	g.2326102T>A	CA394352198	ABCA3	c.227A>T (p.Asp76Val) n.790A>T
16	g.2326102T>C	CA394352193	ABCA3	c.227A>G (p.Asp76Gly) n.790A>G	gnomAD v4
16	g.2326102T>G	CA394352195	ABCA3	c.227A>C (p.Asp76Ala) n.790A>C
16	g.2326103C>A	CA394352199	ABCA3	c.226G>T (p.Asp76Tyr) n.789G>T
16	g.2326103C>G	CA394352201	ABCA3	c.226G>C (p.Asp76His) n.789G>C
16	g.2326103C>T	CA394352202	ABCA3	c.226G>A (p.Asp76Asn) n.789G>A
16	g.2326104T>A	CA493361746	ABCA3	c.225A>T (p.Gly75=) n.788A>T
16	g.2326104T>C	CA493361748	ABCA3	c.225A>G (p.Gly75=) n.788A>G
16	g.2326104T>G	CA493361749	ABCA3	c.225A>C (p.Gly75=) n.788A>C
16	g.2326105C>A	CA394352205	ABCA3	c.224G>T (p.Gly75Val) n.787G>T
16	g.2326105C>G	CA394352208	ABCA3	c.224G>C (p.Gly75Ala) n.787G>C
16	g.2326105C>T	CA394352209	ABCA3	c.224G>A (p.Gly75Glu) n.787G>A
16	g.2326106C>A	CA394352213	ABCA3	c.223G>T (p.Gly75Ter) n.786G>T
16	g.2326106C>G	CA394352215	ABCA3	c.223G>C (p.Gly75Arg) n.786G>C
16	g.2326106C>T	CA394352212	ABCA3	c.223G>A (p.Gly75Arg) n.786G>A
16	g.2326107T>A	CA493361758	ABCA3	c.222A>T (p.Pro74=) n.785A>T
16	g.2326107T>C	CA493361762	ABCA3	c.222A>G (p.Pro74=) n.785A>G
16	g.2326107T>G	CA493361760	ABCA3	c.222A>C (p.Pro74=) n.785A>C
16	g.2326108G>A	CA394352217	ABCA3	c.221C>T (p.Pro74Leu) n.784C>T
16	g.2326108G>C	CA394352223	ABCA3	c.221C>G (p.Pro74Arg) n.784C>G
16	g.2326108G>T	CA394352220	ABCA3	c.221C>A (p.Pro74Gln) n.784C>A
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	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

Number of alleles fetched