Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2326013G>A	CA394351658	ABCA3	c.316C>T (p.Arg106Ter) n.879C>T	ClinVar dbSNP gnomAD v4 COSMIC
16	g.2326013G>C	CA394351660	ABCA3	c.316C>G (p.Arg106Gly) n.879C>G	dbSNP gnomAD v3 gnomAD v4
16	g.2326013G=	CA2202173307	ABCA3	c.316C= (p.Arg106=) n.879C=
16	g.2326013G>T	CA493361435	ABCA3	c.316C>A (p.Arg106=) n.879C>A	dbSNP gnomAD v2 gnomAD v4
16	g.2326014C>A	CA276853676	ABCA3	c.315G>T (p.Met105Ile) n.878G>T	dbSNP
16	g.2326014C=	CA2202173310	ABCA3	c.315G= (p.Met105=) n.878G=
16	g.2326014C>G	CA394351666	ABCA3	c.315G>C (p.Met105Ile) n.878G>C
16	g.2326014C>T	CA394351673	ABCA3	c.315G>A (p.Met105Ile) n.878G>A
16	g.2326015A>C	CA394351677	ABCA3	c.314T>G (p.Met105Arg) n.877T>G
16	g.2326015A>G	CA394351678	ABCA3	c.314T>C (p.Met105Thr) n.877T>C
16	g.2326015A>T	CA394351680	ABCA3	c.314T>A (p.Met105Lys) n.877T>A
16	g.2326016T>A	CA394351682	ABCA3	c.313A>T (p.Met105Leu) n.876A>T
16	g.2326016T>C	CA394351692	ABCA3	c.313A>G (p.Met105Val) n.876A>G	gnomAD v4
16	g.2326016T>G	CA394351693	ABCA3	c.313A>C (p.Met105Leu) n.876A>C	gnomAD v4
16	g.2326017G>A	CA493361445	ABCA3	c.312C>T (p.Asn104=) n.875C>T
16	g.2326017G>C	CA394351695	ABCA3	c.312C>G (p.Asn104Lys) n.875C>G
16	g.2326017G>T	CA394351697	ABCA3	c.312C>A (p.Asn104Lys) n.875C>A
16	g.2326018T>A	CA394351701	ABCA3	c.311A>T (p.Asn104Ile) n.874A>T
16	g.2326018T>C	CA394351713	ABCA3	c.311A>G (p.Asn104Ser) n.874A>G	dbSNP
16	g.2326018T>G	CA394351709	ABCA3	c.311A>C (p.Asn104Thr) n.874A>C
16	g.2326018T=	CA2202173314	ABCA3	c.311A= (p.Asn104=) n.874A=
16	g.2326019T>A	CA394351716	ABCA3	c.310A>T (p.Asn104Tyr) n.873A>T
16	g.2326019T>C	CA394351717	ABCA3	c.310A>G (p.Asn104Asp) n.873A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326019T>G	CA394351718	ABCA3	c.310A>C (p.Asn104His) n.873A>C
16	g.2326019T=	CA2202173318	ABCA3	c.310A= (p.Asn104=) n.873A=
16	g.2326020del	CA2695222613	ABCA3	c.309del (p.Asn104ThrfsTer?) n.872del
16	g.2326020G>A	CA493361448	ABCA3	c.309C>T (p.Ile103=) n.872C>T	COSMIC
16	g.2326020G>C	CA394351719	ABCA3	c.309C>G (p.Ile103Met) n.872C>G
16	g.2326020G>T	CA493361449	ABCA3	c.309C>A (p.Ile103=) n.872C>A	gnomAD v4
16	g.2326021A>C	CA394351720	ABCA3	c.308T>G (p.Ile103Ser) n.871T>G
16	g.2326021A>G	CA394351721	ABCA3	c.308T>C (p.Ile103Thr) n.871T>C
16	g.2326021A>T	CA394351723	ABCA3	c.308T>A (p.Ile103Asn) n.871T>A
16	g.2326022T>A	CA394351725	ABCA3	c.307A>T (p.Ile103Phe) n.870A>T
16	g.2326022T>C	CA394351727	ABCA3	c.307A>G (p.Ile103Val) n.870A>G	COSMIC
16	g.2326022T>G	CA394351730	ABCA3	c.307A>C (p.Ile103Leu) n.870A>C
16	g.2326023C>A	CA493361452	ABCA3	c.306G>T (p.Val102=) n.869G>T
16	g.2326023C>G	CA493361454	ABCA3	c.306G>C (p.Val102=) n.869G>C
16	g.2326023C>T	CA493361456	ABCA3	c.306G>A (p.Val102=) n.869G>A
16	g.2326025_2326026del	CA2590066172	ABCA3	c.305_306del (p.Val102AspfsTer15) n.868_869del	dbSNP gnomAD v3 gnomAD v4
16	g.2326024A>C	CA394351740	ABCA3	c.305T>G (p.Val102Gly) n.868T>G
16	g.2326024A>G	CA394351736	ABCA3	c.305T>C (p.Val102Ala) n.868T>C	gnomAD v4
16	g.2326024A>T	CA394351734	ABCA3	c.305T>A (p.Val102Glu) n.868T>A
16	g.2326025C>A	CA394351741	ABCA3	c.304G>T (p.Val102Leu) n.867G>T
16	g.2326025C>G	CA394351748	ABCA3	c.304G>C (p.Val102Leu) n.867G>C
16	g.2326025C>T	CA394351744	ABCA3	c.304G>A (p.Val102Met) n.867G>A
16	g.2326026A>C	CA493361460	ABCA3	c.303T>G (p.Leu101=) n.866T>G
16	g.2326026A>G	CA493361461	ABCA3	c.303T>C (p.Leu101=) n.866T>C
16	g.2326026A>T	CA493361459	ABCA3	c.303T>A (p.Leu101=) n.866T>A
16	g.2326027A=	CA2202173325	ABCA3	c.302T= (p.Leu101=) n.865T=
16	g.2326027A>C	CA394351755	ABCA3	c.302T>G (p.Leu101Arg) n.865T>G

Number of alleles fetched