Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2326048G>A	CA394351919	ABCA3	c.281C>T (p.Thr94Ile) n.844C>T	gnomAD v4
16	g.2326048G>C	CA394351921	ABCA3	c.281C>G (p.Thr94Ser) n.844C>G	gnomAD v4
16	g.2326048G>T	CA394351923	ABCA3	c.281C>A (p.Thr94Asn) n.844C>A
16	g.2326048_2326060del	CA2575883028	ABCA3	c.269_281del (p.Ala90ValfsTer9) n.832_844del
16	g.2326049T>A	CA394351926	ABCA3	c.280A>T (p.Thr94Ser) n.843A>T
16	g.2326049T>C	CA394351927	ABCA3	c.280A>G (p.Thr94Ala) n.843A>G
16	g.2326049T>G	CA394351934	ABCA3	c.280A>C (p.Thr94Pro) n.843A>C
16	g.2326050G>A	CA493361541	ABCA3	c.279C>T (p.Val93=) n.842C>T	ClinVar gnomAD v4
16	g.2326050G>C	CA493361543	ABCA3	c.279C>G (p.Val93=) n.842C>G
16	g.2326050G>T	CA493361545	ABCA3	c.279C>A (p.Val93=) n.842C>A	gnomAD v4
16	g.2326051A>C	CA394351937	ABCA3	c.278T>G (p.Val93Gly) n.841T>G
16	g.2326051A>G	CA394351939	ABCA3	c.278T>C (p.Val93Ala) n.841T>C
16	g.2326051A>T	CA394351942	ABCA3	c.278T>A (p.Val93Asp) n.841T>A
16	g.2326052C>A	CA394351952	ABCA3	c.277G>T (p.Val93Phe) n.840G>T
16	g.2326052C=	CA2202173359	ABCA3	c.277G= (p.Val93=) n.840G=
16	g.2326052C>G	CA394351945	ABCA3	c.277G>C (p.Val93Leu) n.840G>C
16	g.2326052C>T	CA7841748	ABCA3	c.277G>A (p.Val93Ile) n.840G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326053G>A	CA7841749	ABCA3	c.276C>T (p.Thr92=) n.839C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326053G>C	CA493361556	ABCA3	c.276C>G (p.Thr92=) n.839C>G
16	g.2326053G=	CA2202173365	ABCA3	c.276C= (p.Thr92=) n.839C=
16	g.2326053G>T	CA493361557	ABCA3	c.276C>A (p.Thr92=) n.839C>A	dbSNP gnomAD v2 gnomAD v4
16	g.2326054G>A	CA7841750	ABCA3	c.275C>T (p.Thr92Ile) n.838C>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326054G>C	CA394351957	ABCA3	c.275C>G (p.Thr92Ser) n.838C>G
16	g.2326054G=	CA2202173373	ABCA3	c.275C= (p.Thr92=) n.838C=
16	g.2326054G>T	CA394351960	ABCA3	c.275C>A (p.Thr92Asn) n.838C>A
16	g.2326055T>A	CA7841752	ABCA3	c.274A>T (p.Thr92Ser) n.837A>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326055T>C	CA7841751	ABCA3	c.274A>G (p.Thr92Ala) n.837A>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326055T>G	CA394351963	ABCA3	c.274A>C (p.Thr92Pro) n.837A>C
16	g.2326055T=	CA2202173376	ABCA3	c.274A= (p.Thr92=) n.837A=
16	g.2326056C>A	CA394351964	ABCA3	c.273G>T (p.Lys91Asn) n.836G>T
16	g.2326056C=	CA2202173379	ABCA3	c.273G= (p.Lys91=) n.836G=
16	g.2326056C>G	CA394351965	ABCA3	c.273G>C (p.Lys91Asn) n.836G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326056C>T	CA493361563	ABCA3	c.273G>A (p.Lys91=) n.836G>A	gnomAD v4
16	g.2326057T>A	CA394351967	ABCA3	c.272A>T (p.Lys91Met) n.835A>T
16	g.2326057T>C	CA7841753	ABCA3	c.272A>G (p.Lys91Arg) n.835A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326057T>G	CA394351969	ABCA3	c.272A>C (p.Lys91Thr) n.835A>C
16	g.2326057T=	CA2202173384	ABCA3	c.272A= (p.Lys91=) n.835A=
16	g.2326058T>A	CA394351972	ABCA3	c.271A>T (p.Lys91Ter) n.834A>T
16	g.2326058T>C	CA394351975	ABCA3	c.271A>G (p.Lys91Glu) n.834A>G	gnomAD v4
16	g.2326058T>G	CA394351978	ABCA3	c.271A>C (p.Lys91Gln) n.834A>C
16	g.2326059G>A	CA493361570	ABCA3	c.270C>T (p.Ala90=) n.833C>T	dbSNP
16	g.2326059G>C	CA493361571	ABCA3	c.270C>G (p.Ala90=) n.833C>G
16	g.2326059G=	CA2202173390	ABCA3	c.270C= (p.Ala90=) n.833C=
16	g.2326059G>T	CA493361573	ABCA3	c.270C>A (p.Ala90=) n.833C>A
16	g.2326060G>A	CA394351984	ABCA3	c.269C>T (p.Ala90Val) n.832C>T
16	g.2326060G>C	CA394351982	ABCA3	c.269C>G (p.Ala90Gly) n.832C>G
16	g.2326060G>T	CA394351981	ABCA3	c.269C>A (p.Ala90Asp) n.832C>A
16	g.2326061C>A	CA394351986	ABCA3	c.268G>T (p.Ala90Ser) n.831G>T
16	g.2326061C>G	CA394351988	ABCA3	c.268G>C (p.Ala90Pro) n.831G>C
16	g.2326061C>T	CA394351991	ABCA3	c.268G>A (p.Ala90Thr) n.831G>A	gnomAD v4
16	g.2326062A>C	CA493361580	ABCA3	c.267T>G (p.Ala89=) n.830T>G
16	g.2326062A>G	CA493361582	ABCA3	c.267T>C (p.Ala89=) n.830T>C
16	g.2326062A>T	CA493361584	ABCA3	c.267T>A (p.Ala89=) n.830T>A
16	g.2326063G>A	CA394351994	ABCA3	c.266C>T (p.Ala89Val) n.829C>T
16	g.2326063G>C	CA394351996	ABCA3	c.266C>G (p.Ala89Gly) n.829C>G
16	g.2326063G>T	CA394351999	ABCA3	c.266C>A (p.Ala89Asp) n.829C>A
16	g.2326064C>A	CA7841755	ABCA3	c.265G>T (p.Ala89Ser) n.828G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326064C=	CA2202173399	ABCA3	c.265G= (p.Ala89=) n.828G=
16	g.2326064C>G	CA394352010	ABCA3	c.265G>C (p.Ala89Pro) n.828G>C
16	g.2326064C>T	CA7841754	ABCA3	c.265G>A (p.Ala89Thr) n.828G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326065G>A	CA7841756	ABCA3	c.264C>T (p.Asp88=) n.827C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2326065G>C	CA394352014	ABCA3	c.264C>G (p.Asp88Glu) n.827C>G
16	g.2326065G=	CA2202173406	ABCA3	c.264C= (p.Asp88=) n.827C=
16	g.2326065G>T	CA7841757	ABCA3	c.264C>A (p.Asp88Glu) n.827C>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326066T>A	CA394352021	ABCA3	c.263A>T (p.Asp88Val) n.826A>T
16	g.2326066T>C	CA394352019	ABCA3	c.263A>G (p.Asp88Gly) n.826A>G
16	g.2326066T>G	CA394352018	ABCA3	c.263A>C (p.Asp88Ala) n.826A>C
16	g.2326067C>A	CA394352024	ABCA3	c.262G>T (p.Asp88Tyr) n.825G>T
16	g.2326067C=	CA2202173411	ABCA3	c.262G= (p.Asp88=) n.825G=
16	g.2326067C>G	CA394352026	ABCA3	c.262G>C (p.Asp88His) n.825G>C
16	g.2326067C>T	CA394352028	ABCA3	c.262G>A (p.Asp88Asn) n.825G>A	dbSNP gnomAD v3 gnomAD v4
16	g.2326068A>C	CA394352031	ABCA3	c.261T>G (p.Ser87Arg) n.824T>G
16	g.2326068A>G	CA493361600	ABCA3	c.261T>C (p.Ser87=) n.824T>C	gnomAD v4
16	g.2326068A>T	CA394352033	ABCA3	c.261T>A (p.Ser87Arg) n.824T>A
16	g.2326069C>A	CA394352036	ABCA3	c.260G>T (p.Ser87Ile) n.823G>T
16	g.2326069C>G	CA394352039	ABCA3	c.260G>C (p.Ser87Thr) n.823G>C
16	g.2326069C>T	CA394352041	ABCA3	c.260G>A (p.Ser87Asn) n.823G>A
16	g.2326070T>A	CA394352044	ABCA3	c.259A>T (p.Ser87Cys) n.822A>T
16	g.2326070T>C	CA394352045	ABCA3	c.259A>G (p.Ser87Gly) n.822A>G	gnomAD v4
16	g.2326070T>G	CA394352048	ABCA3	c.259A>C (p.Ser87Arg) n.822A>C
16	g.2326071G>A	CA493361611	ABCA3	c.258C>T (p.His86=) n.821C>T
16	g.2326071G>C	CA394352051	ABCA3	c.258C>G (p.His86Gln) n.821C>G
16	g.2326071G>T	CA394352052	ABCA3	c.258C>A (p.His86Gln) n.821C>A
16	g.2326072T>A	CA394352058	ABCA3	c.257A>T (p.His86Leu) n.820A>T
16	g.2326072T>C	CA394352055	ABCA3	c.257A>G (p.His86Arg) n.820A>G	gnomAD v4
16	g.2326072T>G	CA394352056	ABCA3	c.257A>C (p.His86Pro) n.820A>C
16	g.2326073G>A	CA394352059	ABCA3	c.256C>T (p.His86Tyr) n.819C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326073G>C	CA394352063	ABCA3	c.256C>G (p.His86Asp) n.819C>G
16	g.2326073G=	CA2202173413	ABCA3	c.256C= (p.His86=) n.819C=
16	g.2326073G>T	CA394352065	ABCA3	c.256C>A (p.His86Asn) n.819C>A
16	g.2326074A>C	CA493361622	ABCA3	c.255T>G (p.Ser85=) n.818T>G	gnomAD v4
16	g.2326074A>G	CA493361625	ABCA3	c.255T>C (p.Ser85=) n.818T>C
16	g.2326074A>T	CA493361624	ABCA3	c.255T>A (p.Ser85=) n.818T>A
16	g.2326075G>A	CA394352067	ABCA3	c.254C>T (p.Ser85Phe) n.817C>T
16	g.2326075G>C	CA394352070	ABCA3	c.254C>G (p.Ser85Cys) n.817C>G	dbSNP gnomAD v2 gnomAD v4
16	g.2326075G=	CA2202173416	ABCA3	c.254C= (p.Ser85=) n.817C=
16	g.2326075G>T	CA394352073	ABCA3	c.254C>A (p.Ser85Tyr) n.817C>A
16	g.2326076A=	CA2202173421	ABCA3	c.253T= (p.Ser85=) n.816T=
16	g.2326076A>C	CA394352075	ABCA3	c.253T>G (p.Ser85Ala) n.816T>G
16	g.2326076A>G	CA394352077	ABCA3	c.253T>C (p.Ser85Pro) n.816T>C	dbSNP
16	g.2326076A>T	CA394352079	ABCA3	c.253T>A (p.Ser85Thr) n.816T>A
16	g.2326077A>C	CA493361637	ABCA3	c.252T>G (p.Pro84=) n.815T>G
16	g.2326077A>G	CA493361639	ABCA3	c.252T>C (p.Pro84=) n.815T>C
16	g.2326077A>T	CA493361644	ABCA3	c.252T>A (p.Pro84=) n.815T>A
16	g.2326078G>A	CA394352081	ABCA3	c.251C>T (p.Pro84Leu) n.814C>T	dbSNP
16	g.2326078G>C	CA394352082	ABCA3	c.251C>G (p.Pro84Arg) n.814C>G
16	g.2326078G=	CA2202173442	ABCA3	c.251C= (p.Pro84=) n.814C=
16	g.2326078G>T	CA394352083	ABCA3	c.251C>A (p.Pro84His) n.814C>A
16	g.2326079G>A	CA394352087	ABCA3	c.250C>T (p.Pro84Ser) n.813C>T
16	g.2326079G>C	CA394352086	ABCA3	c.250C>G (p.Pro84Ala) n.813C>G
16	g.2326079G>T	CA394352084	ABCA3	c.250C>A (p.Pro84Thr) n.813C>A
16	g.2326080G>A	CA493361655	ABCA3	c.249C>T (p.Ile83=) n.812C>T	ClinVar gnomAD v4
16	g.2326080G>C	CA394352089	ABCA3	c.249C>G (p.Ile83Met) n.812C>G
16	g.2326080G>T	CA493361659	ABCA3	c.249C>A (p.Ile83=) n.812C>A
16	g.2326081A>C	CA394352091	ABCA3	c.248T>G (p.Ile83Ser) n.811T>G
16	g.2326081A>G	CA394352095	ABCA3	c.248T>C (p.Ile83Thr) n.811T>C
16	g.2326081A>T	CA394352094	ABCA3	c.248T>A (p.Ile83Asn) n.811T>A
16	g.2326082T>A	CA394352098	ABCA3	c.247A>T (p.Ile83Phe) n.810A>T
16	g.2326082T>C	CA394352099	ABCA3	c.247A>G (p.Ile83Val) n.810A>G	gnomAD v4
16	g.2326082T>G	CA394352102	ABCA3	c.247A>C (p.Ile83Leu) n.810A>C
16	g.2326083G>A	CA493361666	ABCA3	c.246C>T (p.Tyr82=) n.809C>T	dbSNP gnomAD v4
16	g.2326083G>C	CA394352105	ABCA3	c.246C>G (p.Tyr82Ter) n.809C>G
16	g.2326083G=	CA2202173447	ABCA3	c.246C= (p.Tyr82=) n.809C=
16	g.2326083G>T	CA394352109	ABCA3	c.246C>A (p.Tyr82Ter) n.809C>A
16	g.2326084T>A	CA394352110	ABCA3	c.245A>T (p.Tyr82Phe) n.808A>T
16	g.2326084T>C	CA394352111	ABCA3	c.245A>G (p.Tyr82Cys) n.808A>G
16	g.2326084T>G	CA394352112	ABCA3	c.245A>C (p.Tyr82Ser) n.808A>C
16	g.2326085A>C	CA394352113	ABCA3	c.244T>G (p.Tyr82Asp) n.807T>G
16	g.2326085A>G	CA394352115	ABCA3	c.244T>C (p.Tyr82His) n.807T>C
16	g.2326085A>T	CA394352116	ABCA3	c.244T>A (p.Tyr82Asn) n.807T>A
16	g.2326086G>A	CA7841758	ABCA3	c.243C>T (p.Ala81=) n.806C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326086G>C	CA493361675	ABCA3	c.243C>G (p.Ala81=) n.806C>G
16	g.2326086G=	CA2202173450	ABCA3	c.243C= (p.Ala81=) n.806C=
16	g.2326086G>T	CA493361677	ABCA3	c.243C>A (p.Ala81=) n.806C>A
16	g.2326087G>A	CA394352122	ABCA3	c.242C>T (p.Ala81Val) n.805C>T	gnomAD v4
16	g.2326087G>C	CA276853745	ABCA3	c.242C>G (p.Ala81Gly) n.805C>G	dbSNP
16	g.2326087G=	CA2202173453	ABCA3	c.242C= (p.Ala81=) n.805C=
16	g.2326087G>T	CA394352120	ABCA3	c.242C>A (p.Ala81Asp) n.805C>A
16	g.2326088C>A	CA394352125	ABCA3	c.241G>T (p.Ala81Ser) n.804G>T
16	g.2326088C>G	CA394352128	ABCA3	c.241G>C (p.Ala81Pro) n.804G>C
16	g.2326088C>T	CA394352129	ABCA3	c.241G>A (p.Ala81Thr) n.804G>A
16	g.2326089A>C	CA493361690	ABCA3	c.240T>G (p.Leu80=) n.803T>G	gnomAD v4
16	g.2326089A>G	CA493361693	ABCA3	c.240T>C (p.Leu80=) n.803T>C	dbSNP
16	g.2326089A>T	CA493361695	ABCA3	c.240T>A (p.Leu80=) n.803T>A
16	g.2326090A>C	CA394352132	ABCA3	c.239T>G (p.Leu80Arg) n.802T>G
16	g.2326090A>G	CA394352134	ABCA3	c.239T>C (p.Leu80Pro) n.802T>C
16	g.2326090A>T	CA394352136	ABCA3	c.239T>A (p.Leu80His) n.802T>A
16	g.2326091G>A	CA394352139	ABCA3	c.238C>T (p.Leu80Phe) n.801C>T
16	g.2326091G>C	CA394352141	ABCA3	c.238C>G (p.Leu80Val) n.801C>G
16	g.2326091G>T	CA394352144	ABCA3	c.238C>A (p.Leu80Ile) n.801C>A
16	g.2326092C>A	CA394352145	ABCA3	c.237G>T (p.Glu79Asp) n.800G>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326092C=	CA2202173455	ABCA3	c.237G= (p.Glu79=) n.800G=
16	g.2326092C>G	CA394352146	ABCA3	c.237G>C (p.Glu79Asp) n.800G>C
16	g.2326092C>T	CA493361703	ABCA3	c.237G>A (p.Glu79=) n.800G>A
16	g.2326093T>A	CA394352153	ABCA3	c.236A>T (p.Glu79Val) n.799A>T
16	g.2326093T>C	CA394352150	ABCA3	c.236A>G (p.Glu79Gly) n.799A>G
16	g.2326093T>G	CA394352149	ABCA3	c.236A>C (p.Glu79Ala) n.799A>C
16	g.2326094C>A	CA394352156	ABCA3	c.235G>T (p.Glu79Ter) n.798G>T
16	g.2326094C=	CA2202173458	ABCA3	c.235G= (p.Glu79=) n.798G=
16	g.2326094C>G	CA394352157	ABCA3	c.235G>C (p.Glu79Gln) n.798G>C	dbSNP
16	g.2326094C>T	CA394352160	ABCA3	c.235G>A (p.Glu79Lys) n.798G>A	dbSNP gnomAD v3 gnomAD v4 COSMIC
16	g.2326095C>A	CA394352162	ABCA3	c.234G>T (p.Trp78Cys) n.797G>T
16	g.2326095C>G	CA394352163	ABCA3	c.234G>C (p.Trp78Cys) n.797G>C
16	g.2326095C>T	CA394352164	ABCA3	c.234G>A (p.Trp78Ter) n.797G>A
16	g.2326096C>A	CA394352167	ABCA3	c.233G>T (p.Trp78Leu) n.796G>T
16	g.2326096C=	CA2202173462	ABCA3	c.233G= (p.Trp78=) n.796G=
16	g.2326096C>G	CA394352168	ABCA3	c.233G>C (p.Trp78Ser) n.796G>C	ClinVar dbSNP
16	g.2326096C>T	CA394352170	ABCA3	c.233G>A (p.Trp78Ter) n.796G>A
16	g.2326097A>C	CA394352172	ABCA3	c.232T>G (p.Trp78Gly) n.795T>G	gnomAD v4
16	g.2326097A>G	CA394352174	ABCA3	c.232T>C (p.Trp78Arg) n.795T>C	COSMIC
16	g.2326097A>T	CA394352176	ABCA3	c.232T>A (p.Trp78Arg) n.795T>A
16	g.2326098G>A	CA493361720	ABCA3	c.231C>T (p.Thr77=) n.794C>T
16	g.2326098G>C	CA493361722	ABCA3	c.231C>G (p.Thr77=) n.794C>G
16	g.2326098G>T	CA493361724	ABCA3	c.231C>A (p.Thr77=) n.794C>A
16	g.2326099G>A	CA394352181	ABCA3	c.230C>T (p.Thr77Ile) n.793C>T	gnomAD v4
16	g.2326099G>C	CA394352182	ABCA3	c.230C>G (p.Thr77Ser) n.793C>G	gnomAD v4
16	g.2326099G>T	CA394352178	ABCA3	c.230C>A (p.Thr77Asn) n.793C>A
16	g.2326100T>A	CA394352183	ABCA3	c.229A>T (p.Thr77Ser) n.792A>T
16	g.2326100T>C	CA394352185	ABCA3	c.229A>G (p.Thr77Ala) n.792A>G	gnomAD v4
16	g.2326100T>G	CA394352188	ABCA3	c.229A>C (p.Thr77Pro) n.792A>C
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	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
16	g.2326121T=	CA2202173511	ABCA3	c.208A= (p.Thr70=) n.771A=
16	g.2326122G>A	CA493361812	ABCA3	c.207C>T (p.Phe69=) n.770C>T
16	g.2326122G>C	CA394352288	ABCA3	c.207C>G (p.Phe69Leu) n.770C>G
16	g.2326122G>T	CA394352291	ABCA3	c.207C>A (p.Phe69Leu) n.770C>A
16	g.2326123A>C	CA394352298	ABCA3	c.206T>G (p.Phe69Cys) n.769T>G
16	g.2326123A>G	CA394352294	ABCA3	c.206T>C (p.Phe69Ser) n.769T>C
16	g.2326123A>T	CA394352296	ABCA3	c.206T>A (p.Phe69Tyr) n.769T>A
16	g.2326124A>C	CA394352301	ABCA3	c.205T>G (p.Phe69Val) n.768T>G
16	g.2326124A>G	CA394352303	ABCA3	c.205T>C (p.Phe69Leu) n.768T>C	gnomAD v4
16	g.2326124A>T	CA394352306	ABCA3	c.205T>A (p.Phe69Ile) n.768T>A
16	g.2326125G>A	CA493361822	ABCA3	c.204C>T (p.Phe68=) n.767C>T
16	g.2326125G>C	CA394352307	ABCA3	c.204C>G (p.Phe68Leu) n.767C>G
16	g.2326125G>T	CA394352309	ABCA3	c.204C>A (p.Phe68Leu) n.767C>A
16	g.2326126A>C	CA394352311	ABCA3	c.203T>G (p.Phe68Cys) n.766T>G
16	g.2326126A>G	CA394352316	ABCA3	c.203T>C (p.Phe68Ser) n.766T>C
16	g.2326126A>T	CA394352314	ABCA3	c.203T>A (p.Phe68Tyr) n.766T>A
16	g.2326127A>C	CA394352318	ABCA3	c.202T>G (p.Phe68Val) n.765T>G
16	g.2326127A>G	CA394352321	ABCA3	c.202T>C (p.Phe68Leu) n.765T>C
16	g.2326127A>T	CA394352322	ABCA3	c.202T>A (p.Phe68Ile) n.765T>A
16	g.2326128C>A	CA493361832	ABCA3	c.201G>T (p.Leu67=) n.764G>T
16	g.2326128C=	CA2202169061	ABCA3	c.201G= (p.Leu67=) n.764G=
16	g.2326128C>G	CA493361834	ABCA3	c.201G>C (p.Leu67=) n.764G>C	dbSNP gnomAD v4
16	g.2326128C>T	CA493361836	ABCA3	c.201G>A (p.Leu67=) n.764G>A	gnomAD v4
16	g.2326129A>C	CA394352324	ABCA3	c.200T>G (p.Leu67Arg) n.763T>G
16	g.2326129A>G	CA394352327	ABCA3	c.200T>C (p.Leu67Pro) n.763T>C
16	g.2326129A>T	CA394352328	ABCA3	c.200T>A (p.Leu67Gln) n.763T>A
16	g.2326130G>A	CA493361841	ABCA3	c.199C>T (p.Leu67=) n.762C>T
16	g.2326130G>C	CA394352329	ABCA3	c.199C>G (p.Leu67Val) n.762C>G
16	g.2326130G>T	CA394352331	ABCA3	c.199C>A (p.Leu67Met) n.762C>A
16	g.2326131A=	CA2202169065	ABCA3	c.198T= (p.Pro66=) n.761T=
16	g.2326131A>C	CA493361844	ABCA3	c.198T>G (p.Pro66=) n.761T>G
16	g.2326131A>G	CA493361845	ABCA3	c.198T>C (p.Pro66=) n.761T>C	dbSNP
16	g.2326131A>T	CA493361847	ABCA3	c.198T>A (p.Pro66=) n.761T>A	ClinVar
16	g.2326132G>A	CA394352341	ABCA3	c.197C>T (p.Pro66Leu) n.760C>T	gnomAD v4
16	g.2326132G>C	CA394352343	ABCA3	c.197C>G (p.Pro66Arg) n.760C>G
16	g.2326132G>T	CA394352345	ABCA3	c.197C>A (p.Pro66His) n.760C>A
16	g.2326133G>A	CA394352349	ABCA3	c.196C>T (p.Pro66Ser) n.759C>T
16	g.2326133G>C	CA394352352	ABCA3	c.196C>G (p.Pro66Ala) n.759C>G
16	g.2326133G>T	CA394352347	ABCA3	c.196C>A (p.Pro66Thr) n.759C>A
16	g.2326134C>A	CA493361855	ABCA3	c.195G>T (p.Leu65=) n.758G>T	ClinVar gnomAD v4
16	g.2326134C>G	CA493361857	ABCA3	c.195G>C (p.Leu65=) n.758G>C
16	g.2326134C>T	CA493361859	ABCA3	c.195G>A (p.Leu65=) n.758G>A
16	g.2326135A>C	CA394352359	ABCA3	c.194T>G (p.Leu65Arg) n.757T>G
16	g.2326135A>G	CA394352355	ABCA3	c.194T>C (p.Leu65Pro) n.757T>C
16	g.2326135A>T	CA394352357	ABCA3	c.194T>A (p.Leu65Gln) n.757T>A
16	g.2326136G>A	CA493361865	ABCA3	c.193C>T (p.Leu65=) n.756C>T
16	g.2326136G>C	CA394352361	ABCA3	c.193C>G (p.Leu65Val) n.756C>G
16	g.2326136G>T	CA394352365	ABCA3	c.193C>A (p.Leu65Met) n.756C>A
16	g.2326137C>A	CA394352367	ABCA3	c.192G>T (p.Glu64Asp) n.755G>T
16	g.2326137C=	CA2202169069	ABCA3	c.192G= (p.Glu64=) n.755G=
16	g.2326137C>G	CA7841764	ABCA3	c.192G>C (p.Glu64Asp) n.755G>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326137C>T	CA493361866	ABCA3	c.192G>A (p.Glu64=) n.755G>A	gnomAD v4
16	g.2326138T>A	CA394352371	ABCA3	c.191A>T (p.Glu64Val) n.754A>T
16	g.2326138T>C	CA394352373	ABCA3	c.191A>G (p.Glu64Gly) n.754A>G
16	g.2326138T>G	CA10647184	ABCA3	c.191A>C (p.Glu64Ala) n.754A>C	ClinVar dbSNP
16	g.2326138T=	CA2202169077	ABCA3	c.191A= (p.Glu64=) n.754A=
16	g.2326139C>A	CA394352376	ABCA3	c.190G>T (p.Glu64Ter) n.753G>T
16	g.2326139C>G	CA394352378	ABCA3	c.190G>C (p.Glu64Gln) n.753G>C
16	g.2326139C>T	CA394352379	ABCA3	c.190G>A (p.Glu64Lys) n.753G>A	ClinVar
16	g.2326140C>A	CA394352384	ABCA3	c.189G>T (p.Gln63His) n.752G>T
16	g.2326140C>G	CA394352382	ABCA3	c.189G>C (p.Gln63His) n.752G>C
16	g.2326140C>T	CA493361870	ABCA3	c.189G>A (p.Gln63=) n.752G>A
16	g.2326141T>A	CA394352385	ABCA3	c.188A>T (p.Gln63Leu) n.751A>T
16	g.2326141T>C	CA394352386	ABCA3	c.188A>G (p.Gln63Arg) n.751A>G
16	g.2326141T>G	CA394352389	ABCA3	c.188A>C (p.Gln63Pro) n.751A>C	dbSNP
16	g.2326141T=	CA2202169084	ABCA3	c.188A= (p.Gln63=) n.751A=
16	g.2326142G>A	CA394352391	ABCA3	c.187C>T (p.Gln63Ter) n.750C>T
16	g.2326142G>C	CA394352392	ABCA3	c.187C>G (p.Gln63Glu) n.750C>G
16	g.2326142G>T	CA394352394	ABCA3	c.187C>A (p.Gln63Lys) n.750C>A
16	g.2326143G>A	CA493361873	ABCA3	c.186C>T (p.Ile62=) n.749C>T
16	g.2326143G>C	CA394352395	ABCA3	c.186C>G (p.Ile62Met) n.749C>G
16	g.2326143G>T	CA493361874	ABCA3	c.186C>A (p.Ile62=) n.749C>A
16	g.2326144A=	CA2202169086	ABCA3	c.185T= (p.Ile62=) n.748T=
16	g.2326144A>C	CA394352397	ABCA3	c.185T>G (p.Ile62Ser) n.748T>G
16	g.2326144A>G	CA394352399	ABCA3	c.185T>C (p.Ile62Thr) n.748T>C	dbSNP gnomAD v2 gnomAD v4
16	g.2326144A>T	CA394352401	ABCA3	c.185T>A (p.Ile62Asn) n.748T>A
16	g.2326145T>A	CA394352403	ABCA3	c.184A>T (p.Ile62Phe) n.747A>T
16	g.2326145T>C	CA394352405	ABCA3	c.184A>G (p.Ile62Val) n.747A>G	gnomAD v4
16	g.2326145T>G	CA394352408	ABCA3	c.184A>C (p.Ile62Leu) n.747A>C
16	g.2326146G>A	CA493361876	ABCA3	c.183C>T (p.Ser61=) n.746C>T
16	g.2326146G>C	CA493361878	ABCA3	c.183C>G (p.Ser61=) n.746C>G
16	g.2326146G>T	CA493361880	ABCA3	c.183C>A (p.Ser61=) n.746C>A
16	g.2326147G>A	CA394352411	ABCA3	c.182C>T (p.Ser61Phe) n.745C>T	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2326147G>C	CA394352413	ABCA3	c.182C>G (p.Ser61Cys) n.745C>G	ClinVar gnomAD v4
16	g.2326147G=	CA2202169090	ABCA3	c.182C= (p.Ser61=) n.745C=
16	g.2326147G>T	CA394352409	ABCA3	c.182C>A (p.Ser61Tyr) n.745C>A
16	g.2326148A=	CA2202169093	ABCA3	c.181T= (p.Ser61=) n.744T=
16	g.2326148A>C	CA394352414	ABCA3	c.181T>G (p.Ser61Ala) n.744T>G
16	g.2326148A>G	CA394352416	ABCA3	c.181T>C (p.Ser61Pro) n.744T>C
16	g.2326148A>T	CA394352418	ABCA3	c.181T>A (p.Ser61Thr) n.744T>A	dbSNP gnomAD v4

Number of alleles fetched