Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
16	g.2326027A>G	CA119214	ABCA3	c.302T>C (p.Leu101Pro) n.865T>C	ClinVar dbSNP
16	g.2326027A>T	CA394351759	ABCA3	c.302T>A (p.Leu101His) n.865T>A
16	g.2326028G>A	CA394351763	ABCA3	c.301C>T (p.Leu101Phe) n.864C>T	dbSNP gnomAD v2 gnomAD v4
16	g.2326028G>C	CA394351767	ABCA3	c.301C>G (p.Leu101Val) n.864C>G
16	g.2326028G=	CA2202173329	ABCA3	c.301C= (p.Leu101=) n.864C=
16	g.2326028G>T	CA394351772	ABCA3	c.301C>A (p.Leu101Ile) n.864C>A
16	g.2326029T>A	CA493361466	ABCA3	c.300A>T (p.Ala100=) n.863A>T
16	g.2326029T>C	CA493361468	ABCA3	c.300A>G (p.Ala100=) n.863A>G	ClinVar gnomAD v4
16	g.2326029T>G	CA493361470	ABCA3	c.300A>C (p.Ala100=) n.863A>C
16	g.2326030G>A	CA394351774	ABCA3	c.299C>T (p.Ala100Val) n.862C>T
16	g.2326030G>C	CA394351775	ABCA3	c.299C>G (p.Ala100Gly) n.862C>G
16	g.2326030G>T	CA394351778	ABCA3	c.299C>A (p.Ala100Glu) n.862C>A
16	g.2326031C>A	CA394351783	ABCA3	c.298G>T (p.Ala100Ser) n.861G>T	gnomAD v4
16	g.2326031C=	CA2202173333	ABCA3	c.298G= (p.Ala100=) n.861G=
16	g.2326031C>G	CA394351787	ABCA3	c.298G>C (p.Ala100Pro) n.861G>C
16	g.2326031C>T	CA394351788	ABCA3	c.298G>A (p.Ala100Thr) n.861G>A	dbSNP
16	g.2326032C>A	CA394351791	ABCA3	c.297G>T (p.Arg99Ser) n.860G>T	dbSNP gnomAD v3 gnomAD v4
16	g.2326032C=	CA2202173337	ABCA3	c.297G= (p.Arg99=) n.860G=
16	g.2326032C>G	CA394351794	ABCA3	c.297G>C (p.Arg99Ser) n.860G>C	gnomAD v4
16	g.2326032C>T	CA493361477	ABCA3	c.297G>A (p.Arg99=) n.860G>A	dbSNP gnomAD v2
16	g.2326033C>A	CA394351797	ABCA3	c.296G>T (p.Arg99Met) n.859G>T
16	g.2326033C>G	CA394351801	ABCA3	c.296G>C (p.Arg99Thr) n.859G>C
16	g.2326033C>T	CA394351822	ABCA3	c.296G>A (p.Arg99Lys) n.859G>A
16	g.2326034T>A	CA394351828	ABCA3	c.295A>T (p.Arg99Trp) n.858A>T
16	g.2326034T>C	CA394351834	ABCA3	c.295A>G (p.Arg99Gly) n.858A>G
16	g.2326034T>G	CA493361485	ABCA3	c.295A>C (p.Arg99=) n.858A>C
16	g.2326035G>A	CA493361487	ABCA3	c.294C>T (p.Arg98=) n.857C>T	ClinVar gnomAD v4
16	g.2326035G>C	CA493361488	ABCA3	c.294C>G (p.Arg98=) n.857C>G
16	g.2326035G>T	CA493361490	ABCA3	c.294C>A (p.Arg98=) n.857C>A
16	g.2326036C>A	CA394351837	ABCA3	c.293G>T (p.Arg98Leu) n.856G>T	dbSNP
16	g.2326036C=	CA2202173340	ABCA3	c.293G= (p.Arg98=) n.856G=
16	g.2326036C>G	CA394351841	ABCA3	c.293G>C (p.Arg98Pro) n.856G>C
16	g.2326036C>T	CA7841743	ABCA3	c.293G>A (p.Arg98His) n.856G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326037G>A	CA7841744	ABCA3	c.292C>T (p.Arg98Cys) n.855C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326037G>C	CA394351850	ABCA3	c.292C>G (p.Arg98Gly) n.855C>G
16	g.2326037G=	CA2202173342	ABCA3	c.292C= (p.Arg98=) n.855C=
16	g.2326037G>T	CA394351852	ABCA3	c.292C>A (p.Arg98Ser) n.855C>A
16	g.2326038C>A	CA7841745	ABCA3	c.291G>T (p.Val97=) n.854G>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326038C=	CA2202173345	ABCA3	c.291G= (p.Val97=) n.854G=
16	g.2326038C>G	CA493361500	ABCA3	c.291G>C (p.Val97=) n.854G>C
16	g.2326038C>T	CA7841746	ABCA3	c.291G>A (p.Val97=) n.854G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326039A=	CA2202173349	ABCA3	c.290T= (p.Val97=) n.853T=
16	g.2326039A>C	CA394351870	ABCA3	c.290T>G (p.Val97Gly) n.853T>G
16	g.2326039A>G	CA394351873	ABCA3	c.290T>C (p.Val97Ala) n.853T>C	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326039A>T	CA394351872	ABCA3	c.290T>A (p.Val97Glu) n.853T>A
16	g.2326040C>A	CA394351875	ABCA3	c.289G>T (p.Val97Leu) n.852G>T
16	g.2326040C=	CA2202173352	ABCA3	c.289G= (p.Val97=) n.852G=
16	g.2326040C>G	CA394351877	ABCA3	c.289G>C (p.Val97Leu) n.852G>C
16	g.2326040C>T	CA7841747	ABCA3	c.289G>A (p.Val97Met) n.852G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326041T>A	CA493361509	ABCA3	c.288A>T (p.Thr96=) n.851A>T
16	g.2326041T>C	CA493361511	ABCA3	c.288A>G (p.Thr96=) n.851A>G
16	g.2326041T>G	CA493361513	ABCA3	c.288A>C (p.Thr96=) n.851A>C
16	g.2326041dup	CA2695222614	ABCA3	c.288dup (p.Val97SerfsTer21) n.851dup
16	g.2326042G>A	CA394351880	ABCA3	c.287C>T (p.Thr96Ile) n.850C>T
16	g.2326042G>C	CA394351883	ABCA3	c.287C>G (p.Thr96Arg) n.850C>G
16	g.2326042G>T	CA394351890	ABCA3	c.287C>A (p.Thr96Lys) n.850C>A
16	g.2326043T>A	CA394351893	ABCA3	c.286A>T (p.Thr96Ser) n.849A>T
16	g.2326043T>C	CA394351894	ABCA3	c.286A>G (p.Thr96Ala) n.849A>G
16	g.2326043T>G	CA394351896	ABCA3	c.286A>C (p.Thr96Pro) n.849A>C
16	g.2326044C>A	CA394351897	ABCA3	c.285G>T (p.Glu95Asp) n.848G>T
16	g.2326044C>G	CA394351899	ABCA3	c.285G>C (p.Glu95Asp) n.848G>C	COSMIC
16	g.2326044C>T	CA493361523	ABCA3	c.285G>A (p.Glu95=) n.848G>A
16	g.2326045del	CA2631191206	ABCA3	c.284del (p.Glu95GlyfsTer8) n.847del	gnomAD v4
16	g.2326045T>A	CA394351906	ABCA3	c.284A>T (p.Glu95Val) n.847A>T
16	g.2326045T>C	CA394351905	ABCA3	c.284A>G (p.Glu95Gly) n.847A>G
16	g.2326045T>G	CA394351902	ABCA3	c.284A>C (p.Glu95Ala) n.847A>C
16	g.2326046C>A	CA394351908	ABCA3	c.283G>T (p.Glu95Ter) n.846G>T	gnomAD v4
16	g.2326046C=	CA2202173354	ABCA3	c.283G= (p.Glu95=) n.846G=
16	g.2326046C>G	CA394351913	ABCA3	c.283G>C (p.Glu95Gln) n.846G>C	dbSNP gnomAD v3 gnomAD v4
16	g.2326046C>T	CA394351915	ABCA3	c.283G>A (p.Glu95Lys) n.846G>A
16	g.2326047A>C	CA493361531	ABCA3	c.282T>G (p.Thr94=) n.845T>G
16	g.2326047A>G	CA493361535	ABCA3	c.282T>C (p.Thr94=) n.845T>C
16	g.2326047A>T	CA493361533	ABCA3	c.282T>A (p.Thr94=) n.845T>A
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

Number of alleles fetched