Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.2326163T>A	CA394352498	ABCA3	c.166A>T (p.Ile56Phe) n.729A>T
16	g.2326163T>C	CA7841769	ABCA3	c.166A>G (p.Ile56Val) n.729A>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326163T>G	CA394352502	ABCA3	c.166A>C (p.Ile56Leu) n.729A>C
16	g.2326163T=	CA2202169112	ABCA3	c.166A= (p.Ile56=) n.729A=
16	g.2326164G>A	CA493361897	ABCA3	c.165C>T (p.Thr55=) n.728C>T	dbSNP gnomAD v4
16	g.2326164G>C	CA493361898	ABCA3	c.165C>G (p.Thr55=) n.728C>G
16	g.2326164G=	CA2202169115	ABCA3	c.165C= (p.Thr55=) n.728C=
16	g.2326164G>T	CA493361899	ABCA3	c.165C>A (p.Thr55=) n.728C>A
16	g.2326165G>A	CA394352504	ABCA3	c.164C>T (p.Thr55Ile) n.727C>T	gnomAD v4
16	g.2326165G>C	CA394352505	ABCA3	c.164C>G (p.Thr55Ser) n.727C>G
16	g.2326165G>T	CA394352507	ABCA3	c.164C>A (p.Thr55Asn) n.727C>A
16	g.2326166T>A	CA394352510	ABCA3	c.163A>T (p.Thr55Ser) n.726A>T
16	g.2326166T>C	CA394352511	ABCA3	c.163A>G (p.Thr55Ala) n.726A>G	gnomAD v4
16	g.2326166T>G	CA394352512	ABCA3	c.163A>C (p.Thr55Pro) n.726A>C	dbSNP
16	g.2326166T=	CA2202169118	ABCA3	c.163A= (p.Thr55=) n.726A=
16	g.2326167G>A	CA493361901	ABCA3	c.162C>T (p.Ala54=) n.725C>T	dbSNP gnomAD v4 COSMIC
16	g.2326167G>C	CA493361902	ABCA3	c.162C>G (p.Ala54=) n.725C>G
16	g.2326167G=	CA2202169123	ABCA3	c.162C= (p.Ala54=) n.725C=
16	g.2326167G>T	CA493361903	ABCA3	c.162C>A (p.Ala54=) n.725C>A
16	g.2326168G>A	CA7841770	ABCA3	c.161C>T (p.Ala54Val) n.724C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326168G>C	CA394352516	ABCA3	c.161C>G (p.Ala54Gly) n.724C>G
16	g.2326168G=	CA2202169126	ABCA3	c.161C= (p.Ala54=) n.724C=
16	g.2326168G>T	CA394352518	ABCA3	c.161C>A (p.Ala54Asp) n.724C>A
16	g.2326169C>A	CA394352521	ABCA3	c.160G>T (p.Ala54Ser) n.723G>T
16	g.2326169C=	CA2202169132	ABCA3	c.160G= (p.Ala54=) n.723G=
16	g.2326169C>G	CA394352523	ABCA3	c.160G>C (p.Ala54Pro) n.723G>C	ClinVar
16	g.2326169C>T	CA7841771	ABCA3	c.160G>A (p.Ala54Thr) n.723G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326170G>A	CA7841772	ABCA3	c.159C>T (p.Asn53=) n.722C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2326170G>C	CA394352530	ABCA3	c.159C>G (p.Asn53Lys) n.722C>G	COSMIC
16	g.2326170G=	CA2202169137	ABCA3	c.159C= (p.Asn53=) n.722C=
16	g.2326170G>T	CA394352529	ABCA3	c.159C>A (p.Asn53Lys) n.722C>A
16	g.2326171T>A	CA394352533	ABCA3	c.158A>T (p.Asn53Ile) n.721A>T
16	g.2326171T>C	CA276853835	ABCA3	c.158A>G (p.Asn53Ser) n.721A>G	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2326171T>G	CA394352534	ABCA3	c.158A>C (p.Asn53Thr) n.721A>C	gnomAD v4
16	g.2326171T=	CA2202169140	ABCA3	c.158A= (p.Asn53=) n.721A=
16	g.2326172T>A	CA394352536	ABCA3	c.157A>T (p.Asn53Tyr) n.720A>T
16	g.2326172T>C	CA394352539	ABCA3	c.157A>G (p.Asn53Asp) n.720A>G
16	g.2326172T>G	CA394352543	ABCA3	c.157A>C (p.Asn53His) n.720A>C
16	g.2326173G>A	CA493361904	ABCA3	c.156C>T (p.Pro52=) n.719C>T	gnomAD v4
16	g.2326173G>C	CA493361905	ABCA3	c.156C>G (p.Pro52=) n.719C>G
16	g.2326173G>T	CA493361906	ABCA3	c.156C>A (p.Pro52=) n.719C>A	gnomAD v4
16	g.2326174G>A	CA7841773	ABCA3	c.155C>T (p.Pro52Leu) n.718C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326174G>C	CA394352546	ABCA3	c.155C>G (p.Pro52Arg) n.718C>G	dbSNP
16	g.2326174G=	CA2202169143	ABCA3	c.155C= (p.Pro52=) n.718C=
16	g.2326174G>T	CA394352548	ABCA3	c.155C>A (p.Pro52His) n.718C>A
16	g.2326175G>A	CA394352556	ABCA3	c.154C>T (p.Pro52Ser) n.717C>T
16	g.2326175G>C	CA394352554	ABCA3	c.154C>G (p.Pro52Ala) n.717C>G
16	g.2326175G=	CA2202169148	ABCA3	c.154C= (p.Pro52=) n.717C=
16	g.2326175G>T	CA394352551	ABCA3	c.154C>A (p.Pro52Thr) n.717C>A	dbSNP
16	g.2326176C>A	CA7841774	ABCA3	c.153G>T (p.Val51=) n.716G>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326176C=	CA2202169150	ABCA3	c.153G= (p.Val51=) n.716G=
16	g.2326176C>G	CA493361907	ABCA3	c.153G>C (p.Val51=) n.716G>C
16	g.2326176C>T	CA493361908	ABCA3	c.153G>A (p.Val51=) n.716G>A	ClinVar
16	g.2326177A>C	CA394352560	ABCA3	c.152T>G (p.Val51Gly) n.715T>G
16	g.2326177A>G	CA394352563	ABCA3	c.152T>C (p.Val51Ala) n.715T>C
16	g.2326177A>T	CA394352568	ABCA3	c.152T>A (p.Val51Glu) n.715T>A
16	g.2326178C>A	CA394352570	ABCA3	c.151G>T (p.Val51Leu) n.714G>T
16	g.2326178C>G	CA394352572	ABCA3	c.151G>C (p.Val51Leu) n.714G>C
16	g.2326178C>T	CA394352575	ABCA3	c.151G>A (p.Val51Met) n.714G>A	gnomAD v4
16	g.2326179A>C	CA394352577	ABCA3	c.150T>G (p.Asn50Lys) n.713T>G
16	g.2326179A>G	CA493361909	ABCA3	c.150T>C (p.Asn50=) n.713T>C
16	g.2326179A>T	CA394352580	ABCA3	c.150T>A (p.Asn50Lys) n.713T>A
16	g.2326180T>A	CA394352585	ABCA3	c.149A>T (p.Asn50Ile) n.712A>T
16	g.2326180T>C	CA276853844	ABCA3	c.149A>G (p.Asn50Ser) n.712A>G	dbSNP gnomAD v2 gnomAD v4
16	g.2326180T>G	CA394352588	ABCA3	c.149A>C (p.Asn50Thr) n.712A>C
16	g.2326180T=	CA2202169153	ABCA3	c.149A= (p.Asn50=) n.712A=
16	g.2326181T>A	CA394352598	ABCA3	c.148A>T (p.Asn50Tyr) n.711A>T
16	g.2326181T>C	CA394352592	ABCA3	c.148A>G (p.Asn50Asp) n.711A>G	gnomAD v4
16	g.2326181T>G	CA394352596	ABCA3	c.148A>C (p.Asn50His) n.711A>C
16	g.2326182T>A	CA394352601	ABCA3	c.147A>T (p.Glu49Asp) n.710A>T
16	g.2326182T>C	CA493361910	ABCA3	c.147A>G (p.Glu49=) n.710A>G
16	g.2326182T>G	CA394352604	ABCA3	c.147A>C (p.Glu49Asp) n.710A>C
16	g.2326183T>A	CA394352605	ABCA3	c.146A>T (p.Glu49Val) n.709A>T
16	g.2326183T>C	CA394352609	ABCA3	c.146A>G (p.Glu49Gly) n.709A>G
16	g.2326183T>G	CA394352610	ABCA3	c.146A>C (p.Glu49Ala) n.709A>C
16	g.2326184C>A	CA394352612	ABCA3	c.145G>T (p.Glu49Ter) n.708G>T
16	g.2326184C>G	CA394352613	ABCA3	c.145G>C (p.Glu49Gln) n.708G>C
16	g.2326184C>T	CA394352615	ABCA3	c.145G>A (p.Glu49Lys) n.708G>A	COSMIC
16	g.2326185C>A	CA493361912	ABCA3	c.144G>T (p.Ser48=) n.707G>T
16	g.2326185C=	CA2202169158	ABCA3	c.144G= (p.Ser48=) n.707G=
16	g.2326185C>G	CA493361911	ABCA3	c.144G>C (p.Ser48=) n.707G>C
16	g.2326185C>T	CA7841775	ABCA3	c.144G>A (p.Ser48=) n.707G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326186G>A	CA7841776	ABCA3	c.143C>T (p.Ser48Leu) n.706C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326186G>C	CA394352619	ABCA3	c.143C>G (p.Ser48Trp) n.706C>G	dbSNP gnomAD v2 gnomAD v4
16	g.2326186G=	CA2202169165	ABCA3	c.143C= (p.Ser48=) n.706C=
16	g.2326186G>T	CA394352621	ABCA3	c.143C>A (p.Ser48Ter) n.706C>A	ClinVar gnomAD v4
16	g.2326186_2326198delinsGACTGAATCTTCA	CA2202169164	ABCA3	c.131_143delinsTGAAGATTCAGTC (p.Leu44=) n.694_706delinsTGAAGATTCAGTC
16	g.2326187A=	CA2202169171	ABCA3	c.142T= (p.Ser48=) n.705T=
16	g.2326187A>C	CA394352623	ABCA3	c.142T>G (p.Ser48Ala) n.705T>G
16	g.2326187A>G	CA7841777	ABCA3	c.142T>C (p.Ser48Pro) n.705T>C	dbSNP ExAC gnomAD v2
16	g.2326187A>T	CA394352622	ABCA3	c.142T>A (p.Ser48Thr) n.705T>A
16	g.2326188_2326199del	CA719179689	ABCA3	c.131_142del (p.Leu44_Gln47del) n.694_705del	dbSNP
16	g.2326188C>A	CA394352624	ABCA3	c.141G>T (p.Gln47His) n.704G>T
16	g.2326188C>G	CA394352625	ABCA3	c.141G>C (p.Gln47His) n.704G>C
16	g.2326188C>T	CA493361913	ABCA3	c.141G>A (p.Gln47=) n.704G>A
16	g.2326189T>A	CA276853851	ABCA3	c.140A>T (p.Gln47Leu) n.703A>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326189T>C	CA394352627	ABCA3	c.140A>G (p.Gln47Arg) n.703A>G	dbSNP gnomAD v4
16	g.2326189T>G	CA394352628	ABCA3	c.140A>C (p.Gln47Pro) n.703A>C
16	g.2326189T=	CA2202169175	ABCA3	c.140A= (p.Gln47=) n.703A=
16	g.2326189_2326190del	CA645596761	ABCA3	c.139_140del (p.Gln47ValfsTer?) n.702_703del	COSMIC
16	g.2326190G>A	CA394352629	ABCA3	c.139C>T (p.Gln47Ter) n.702C>T
16	g.2326190G>C	CA394352631	ABCA3	c.139C>G (p.Gln47Glu) n.702C>G
16	g.2326190G>T	CA394352633	ABCA3	c.139C>A (p.Gln47Lys) n.702C>A
16	g.2326191A=	CA2202169178	ABCA3	c.138T= (p.Ile46=) n.701T=
16	g.2326191A>C	CA394352634	ABCA3	c.138T>G (p.Ile46Met) n.701T>G	gnomAD v4
16	g.2326191A>G	CA493361914	ABCA3	c.138T>C (p.Ile46=) n.701T>C	dbSNP gnomAD v4
16	g.2326191A>T	CA493361915	ABCA3	c.138T>A (p.Ile46=) n.701T>A
16	g.2326192A>C	CA394352635	ABCA3	c.137T>G (p.Ile46Ser) n.700T>G	gnomAD v4
16	g.2326192A>G	CA394352636	ABCA3	c.137T>C (p.Ile46Thr) n.700T>C
16	g.2326192A>T	CA394352642	ABCA3	c.137T>A (p.Ile46Asn) n.700T>A
16	g.2326193T>A	CA394352644	ABCA3	c.136A>T (p.Ile46Phe) n.699A>T	dbSNP gnomAD v4
16	g.2326193T>C	CA7841778	ABCA3	c.136A>G (p.Ile46Val) n.699A>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326193T>G	CA394352655	ABCA3	c.136A>C (p.Ile46Leu) n.699A>C
16	g.2326193T=	CA2202169182	ABCA3	c.136A= (p.Ile46=) n.699A=
16	g.2326194C>A	CA394352657	ABCA3	c.135G>T (p.Lys45Asn) n.698G>T
16	g.2326194C>G	CA394352659	ABCA3	c.135G>C (p.Lys45Asn) n.698G>C
16	g.2326194C>T	CA493361916	ABCA3	c.135G>A (p.Lys45=) n.698G>A
16	g.2326195T>A	CA394352662	ABCA3	c.134A>T (p.Lys45Met) n.697A>T
16	g.2326195T>C	CA394352663	ABCA3	c.134A>G (p.Lys45Arg) n.697A>G
16	g.2326195T>G	CA394352665	ABCA3	c.134A>C (p.Lys45Thr) n.697A>C
16	g.2326196T>A	CA394352667	ABCA3	c.133A>T (p.Lys45Ter) n.696A>T
16	g.2326196T>C	CA394352669	ABCA3	c.133A>G (p.Lys45Glu) n.696A>G
16	g.2326196T>G	CA394352670	ABCA3	c.133A>C (p.Lys45Gln) n.696A>C
16	g.2326197C>A	CA394352671	ABCA3	c.132G>T (p.Leu44Phe) n.695G>T
16	g.2326197C>G	CA394352672	ABCA3	c.132G>C (p.Leu44Phe) n.695G>C
16	g.2326197C>T	CA493361917	ABCA3	c.132G>A (p.Leu44=) n.695G>A	COSMIC
16	g.2326198A>C	CA394352673	ABCA3	c.131T>G (p.Leu44Trp) n.694T>G	gnomAD v4
16	g.2326198A>G	CA394352675	ABCA3	c.131T>C (p.Leu44Ser) n.694T>C
16	g.2326198A>T	CA394352676	ABCA3	c.131T>A (p.Leu44Ter) n.694T>A
16	g.2326199A=	CA2202169186	ABCA3	c.130T= (p.Leu44=) n.693T=
16	g.2326199A>C	CA394352678	ABCA3	c.130T>G (p.Leu44Val) n.693T>G	dbSNP gnomAD v2 gnomAD v4
16	g.2326199A>G	CA493361918	ABCA3	c.130T>C (p.Leu44=) n.693T>C	gnomAD v4
16	g.2326199A>T	CA394352681	ABCA3	c.130T>A (p.Leu44Met) n.693T>A	dbSNP gnomAD v4
16	g.2326200G>A	CA493361919	ABCA3	c.129C>T (p.Arg43=) n.692C>T
16	g.2326200G>C	CA493361920	ABCA3	c.129C>G (p.Arg43=) n.692C>G
16	g.2326200G>T	CA493361921	ABCA3	c.129C>A (p.Arg43=) n.692C>A
16	g.2326201C>A	CA394352683	ABCA3	c.128G>T (p.Arg43Leu) n.691G>T
16	g.2326201C=	CA2202169190	ABCA3	c.128G= (p.Arg43=) n.691G=
16	g.2326201C>G	CA394352685	ABCA3	c.128G>C (p.Arg43Pro) n.691G>C	dbSNP
16	g.2326201C>T	CA7841779	ABCA3	c.128G>A (p.Arg43His) n.691G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326202G>A	CA7841780	ABCA3	c.127C>T (p.Arg43Cys) n.690C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326202G>C	CA394352688	ABCA3	c.127C>G (p.Arg43Gly) n.690C>G
16	g.2326202G=	CA2202169195	ABCA3	c.127C= (p.Arg43=) n.690C=
16	g.2326202G>T	CA394352693	ABCA3	c.127C>A (p.Arg43Ser) n.690C>A	gnomAD v4
16	g.2326203G>A	CA493361922	ABCA3	c.126C>T (p.Leu42=) n.689C>T	dbSNP gnomAD v4
16	g.2326203G>C	CA493361923	ABCA3	c.126C>G (p.Leu42=) n.689C>G
16	g.2326203G=	CA2202169199	ABCA3	c.126C= (p.Leu42=) n.689C=
16	g.2326203G>T	CA493361924	ABCA3	c.126C>A (p.Leu42=) n.689C>A
16	g.2326204A>C	CA394352696	ABCA3	c.125T>G (p.Leu42Arg) n.688T>G
16	g.2326204A>G	CA394352697	ABCA3	c.125T>C (p.Leu42Pro) n.688T>C
16	g.2326204A>T	CA394352700	ABCA3	c.125T>A (p.Leu42His) n.688T>A
16	g.2326205G>A	CA394352703	ABCA3	c.124C>T (p.Leu42Phe) n.687C>T	gnomAD v4
16	g.2326205G>C	CA394352713	ABCA3	c.124C>G (p.Leu42Val) n.687C>G
16	g.2326205G>T	CA394352717	ABCA3	c.124C>A (p.Leu42Ile) n.687C>A
16	g.2326206C>A	CA394352722	ABCA3	c.123G>T (p.Trp41Cys) n.686G>T	gnomAD v4
16	g.2326206C>G	CA394352725	ABCA3	c.123G>C (p.Trp41Cys) n.686G>C	gnomAD v4
16	g.2326206C>T	CA394352729	ABCA3	c.123G>A (p.Trp41Ter) n.686G>A	gnomAD v4
16	g.2326207C>A	CA394352742	ABCA3	c.122G>T (p.Trp41Leu) n.685G>T
16	g.2326207C>G	CA394352741	ABCA3	c.122G>C (p.Trp41Ser) n.685G>C
16	g.2326207C>T	CA394352731	ABCA3	c.122G>A (p.Trp41Ter) n.685G>A
16	g.2326208A>C	CA394352743	ABCA3	c.121T>G (p.Trp41Gly) n.684T>G
16	g.2326208A>G	CA394352744	ABCA3	c.121T>C (p.Trp41Arg) n.684T>C
16	g.2326208A>T	CA394352745	ABCA3	c.121T>A (p.Trp41Arg) n.684T>A
16	g.2326209G>A	CA493361926	ABCA3	c.120C>T (p.Ile40=) n.683C>T
16	g.2326209G>C	CA394352748	ABCA3	c.120C>G (p.Ile40Met) n.683C>G	dbSNP gnomAD v4
16	g.2326209G=	CA2202169201	ABCA3	c.120C= (p.Ile40=) n.683C=
16	g.2326209G>T	CA493361925	ABCA3	c.120C>A (p.Ile40=) n.683C>A
16	g.2326210A=	CA2202169202	ABCA3	c.119T= (p.Ile40=) n.682T=
16	g.2326210A>C	CA394352753	ABCA3	c.119T>G (p.Ile40Ser) n.682T>G	gnomAD v4
16	g.2326210A>G	CA394352756	ABCA3	c.119T>C (p.Ile40Thr) n.682T>C	dbSNP gnomAD v2
16	g.2326210A>T	CA394352759	ABCA3	c.119T>A (p.Ile40Asn) n.682T>A
16	g.2326211T>A	CA394352762	ABCA3	c.118A>T (p.Ile40Phe) n.681A>T
16	g.2326211T>C	CA394352764	ABCA3	c.118A>G (p.Ile40Val) n.681A>G
16	g.2326211T>G	CA394352766	ABCA3	c.118A>C (p.Ile40Leu) n.681A>C
16	g.2326212G>A	CA493361927	ABCA3	c.117C>T (p.Leu39=) n.680C>T	dbSNP gnomAD v4
16	g.2326212G>C	CA493361929	ABCA3	c.117C>G (p.Leu39=) n.680C>G
16	g.2326212G=	CA2202169203	ABCA3	c.117C= (p.Leu39=) n.680C=
16	g.2326212G>T	CA493361928	ABCA3	c.117C>A (p.Leu39=) n.680C>A
16	g.2326213A>C	CA394352769	ABCA3	c.116T>G (p.Leu39Arg) n.679T>G
16	g.2326213A>G	CA394352772	ABCA3	c.116T>C (p.Leu39Pro) n.679T>C
16	g.2326213A>T	CA394352774	ABCA3	c.116T>A (p.Leu39His) n.679T>A
16	g.2326214G>A	CA7841781	ABCA3	c.115C>T (p.Leu39Phe) n.678C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326214G>C	CA7841782	ABCA3	c.115C>G (p.Leu39Val) n.678C>G	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326214G=	CA2202169206	ABCA3	c.115C= (p.Leu39=) n.678C=
16	g.2326214G>T	CA276853867	ABCA3	c.115C>A (p.Leu39Ile) n.678C>A	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2326215G>A	CA7841783	ABCA3	c.114C>T (p.Ile38=) n.677C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326215G>C	CA394352784	ABCA3	c.114C>G (p.Ile38Met) n.677C>G
16	g.2326215G=	CA2202169213	ABCA3	c.114C= (p.Ile38=) n.677C=
16	g.2326215G>T	CA493361930	ABCA3	c.114C>A (p.Ile38=) n.677C>A
16	g.2326216A=	CA2202169218	ABCA3	c.113T= (p.Ile38=) n.676T=
16	g.2326216A>C	CA394352787	ABCA3	c.113T>G (p.Ile38Ser) n.676T>G	gnomAD v4
16	g.2326216A>G	CA394352785	ABCA3	c.113T>C (p.Ile38Thr) n.676T>C	dbSNP
16	g.2326216A>T	CA394352788	ABCA3	c.113T>A (p.Ile38Asn) n.676T>A
16	g.2326217T>A	CA394352795	ABCA3	c.112A>T (p.Ile38Phe) n.675A>T
16	g.2326217T>C	CA394352798	ABCA3	c.112A>G (p.Ile38Val) n.675A>G	gnomAD v4
16	g.2326217T>G	CA394352800	ABCA3	c.112A>C (p.Ile38Leu) n.675A>C
16	g.2326218C>A	CA493361931	ABCA3	c.111G>T (p.Gly37=) n.674G>T
16	g.2326218C>G	CA493361932	ABCA3	c.111G>C (p.Gly37=) n.674G>C
16	g.2326218C>T	CA493361933	ABCA3	c.111G>A (p.Gly37=) n.674G>A
16	g.2326219C>A	CA394352803	ABCA3	c.110G>T (p.Gly37Val) n.673G>T
16	g.2326219C>G	CA394352807	ABCA3	c.110G>C (p.Gly37Ala) n.673G>C
16	g.2326219C>T	CA394352810	ABCA3	c.110G>A (p.Gly37Glu) n.673G>A	gnomAD v4 COSMIC
16	g.2326220C>A	CA394352812	ABCA3	c.109G>T (p.Gly37Trp) n.672G>T	gnomAD v4
16	g.2326220C>G	CA394352814	ABCA3	c.109G>C (p.Gly37Arg) n.672G>C
16	g.2326220C>T	CA394352817	ABCA3	c.109G>A (p.Gly37Arg) n.672G>A
16	g.2326221A=	CA2202169221	ABCA3	c.108T= (p.Ser36=) n.671T=
16	g.2326221A>C	CA493361934	ABCA3	c.108T>G (p.Ser36=) n.671T>G
16	g.2326221A>G	CA7841784	ABCA3	c.108T>C (p.Ser36=) n.671T>C	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326221A>T	CA493361935	ABCA3	c.108T>A (p.Ser36=) n.671T>A
16	g.2326222G>A	CA394352829	ABCA3	c.107C>T (p.Ser36Phe) n.670C>T
16	g.2326222G>C	CA394352830	ABCA3	c.107C>G (p.Ser36Cys) n.670C>G
16	g.2326222G>T	CA394352833	ABCA3	c.107C>A (p.Ser36Tyr) n.670C>A
16	g.2326223A>C	CA394352838	ABCA3	c.106T>G (p.Ser36Ala) n.669T>G
16	g.2326223A>G	CA394352842	ABCA3	c.106T>C (p.Ser36Pro) n.669T>C
16	g.2326223A>T	CA394352840	ABCA3	c.106T>A (p.Ser36Thr) n.669T>A
16	g.2326224A>C	CA394352845	ABCA3	c.105T>G (p.Phe35Leu) n.668T>G	gnomAD v4
16	g.2326224A>G	CA493361936	ABCA3	c.105T>C (p.Phe35=) n.668T>C
16	g.2326224A>T	CA394352846	ABCA3	c.105T>A (p.Phe35Leu) n.668T>A
16	g.2326225A>C	CA394352847	ABCA3	c.104T>G (p.Phe35Cys) n.667T>G
16	g.2326225A>G	CA394352848	ABCA3	c.104T>C (p.Phe35Ser) n.667T>C
16	g.2326225A>T	CA394352849	ABCA3	c.104T>A (p.Phe35Tyr) n.667T>A
16	g.2326226A=	CA2202169223	ABCA3	c.103T= (p.Phe35=) n.666T=
16	g.2326226A>C	CA394352851	ABCA3	c.103T>G (p.Phe35Val) n.666T>G
16	g.2326226A>G	CA394352854	ABCA3	c.103T>C (p.Phe35Leu) n.666T>C
16	g.2326226A>T	CA394352857	ABCA3	c.103T>A (p.Phe35Ile) n.666T>A	dbSNP
16	g.2326227C>A	CA493361938	ABCA3	c.102G>T (p.Leu34=) n.665G>T
16	g.2326227C=	CA2202169226	ABCA3	c.102G= (p.Leu34=) n.665G=
16	g.2326227C>G	CA493361939	ABCA3	c.102G>C (p.Leu34=) n.665G>C	ClinVar
16	g.2326227C>T	CA493361937	ABCA3	c.102G>A (p.Leu34=) n.665G>A	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.2326228A=	CA2202169228	ABCA3	c.101T= (p.Leu34=) n.664T=
16	g.2326228A>C	CA394352859	ABCA3	c.101T>G (p.Leu34Arg) n.664T>G
16	g.2326228A>G	CA394352863	ABCA3	c.101T>C (p.Leu34Pro) n.664T>C	dbSNP
16	g.2326228A>T	CA394352864	ABCA3	c.101T>A (p.Leu34Gln) n.664T>A
16	g.2326229G>A	CA493361940	ABCA3	c.100C>T (p.Leu34=) n.663C>T	ClinVar dbSNP gnomAD v4
16	g.2326229G>C	CA394352872	ABCA3	c.100C>G (p.Leu34Val) n.663C>G
16	g.2326229G=	CA2202169231	ABCA3	c.100C= (p.Leu34=) n.663C=
16	g.2326229G>T	CA394352867	ABCA3	c.100C>A (p.Leu34Met) n.663C>A
16	g.2326232_2326237del	CA2631191208	ABCA3	c.95_100del (p.Pro32_Leu33del) n.658_663del	gnomAD v4
16	g.2326230C>A	CA394352875	ABCA3	c.99G>T (p.Leu33Phe) n.662G>T
16	g.2326230C>G	CA394352876	ABCA3	c.99G>C (p.Leu33Phe) n.662G>C
16	g.2326230C>T	CA493361941	ABCA3	c.99G>A (p.Leu33=) n.662G>A
16	g.2326231A>C	CA394352878	ABCA3	c.98T>G (p.Leu33Trp) n.661T>G
16	g.2326231A>G	CA394352880	ABCA3	c.98T>C (p.Leu33Ser) n.661T>C
16	g.2326231A>T	CA394352885	ABCA3	c.98T>A (p.Leu33Ter) n.661T>A
16	g.2326232A>C	CA394352890	ABCA3	c.97T>G (p.Leu33Val) n.660T>G
16	g.2326232A>G	CA493361942	ABCA3	c.97T>C (p.Leu33=) n.660T>C
16	g.2326232A>T	CA394352894	ABCA3	c.97T>A (p.Leu33Met) n.660T>A
16	g.2326233T>A	CA493361943	ABCA3	c.96A>T (p.Pro32=) n.659A>T
16	g.2326233T>C	CA276853877	ABCA3	c.96A>G (p.Pro32=) n.659A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326233T>G	CA493361944	ABCA3	c.96A>C (p.Pro32=) n.659A>C	gnomAD v4
16	g.2326233T=	CA2202169234	ABCA3	c.96A= (p.Pro32=) n.659A=
16	g.2326234G>A	CA7841785	ABCA3	c.95C>T (p.Pro32Leu) n.658C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326234G>C	CA394352898	ABCA3	c.95C>G (p.Pro32Arg) n.658C>G
16	g.2326234G=	CA2202169236	ABCA3	c.95C= (p.Pro32=) n.658C=
16	g.2326234G>T	CA394352897	ABCA3	c.95C>A (p.Pro32Gln) n.658C>A
16	g.2326235G>A	CA394352899	ABCA3	c.94C>T (p.Pro32Ser) n.657C>T	gnomAD v4
16	g.2326235G>C	CA394352900	ABCA3	c.94C>G (p.Pro32Ala) n.657C>G
16	g.2326235G>T	CA394352902	ABCA3	c.94C>A (p.Pro32Thr) n.657C>A
16	g.2326236C>A	CA493361945	ABCA3	c.93G>T (p.Leu31=) n.656G>T
16	g.2326236C=	CA2202169239	ABCA3	c.93G= (p.Leu31=) n.656G=
16	g.2326236C>G	CA7841786	ABCA3	c.93G>C (p.Leu31=) n.656G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326236C>T	CA493361946	ABCA3	c.93G>A (p.Leu31=) n.656G>A	ClinVar gnomAD v4
16	g.2326237A>C	CA394352909	ABCA3	c.92T>G (p.Leu31Arg) n.655T>G
16	g.2326237A>G	CA394352912	ABCA3	c.92T>C (p.Leu31Pro) n.655T>C
16	g.2326237A>T	CA394352910	ABCA3	c.92T>A (p.Leu31Gln) n.655T>A	gnomAD v4
16	g.2326238G>A	CA493361947	ABCA3	c.91C>T (p.Leu31=) n.654C>T
16	g.2326238G>C	CA394352917	ABCA3	c.91C>G (p.Leu31Val) n.654C>G
16	g.2326238G>T	CA394352919	ABCA3	c.91C>A (p.Leu31Met) n.654C>A
16	g.2326239G>A	CA493361948	ABCA3	c.90C>T (p.Phe30=) n.653C>T	COSMIC
16	g.2326239G>C	CA394352921	ABCA3	c.90C>G (p.Phe30Leu) n.653C>G
16	g.2326239G>T	CA394352924	ABCA3	c.90C>A (p.Phe30Leu) n.653C>A
16	g.2326240A=	CA2202169242	ABCA3	c.89T= (p.Phe30=) n.652T=
16	g.2326240A>C	CA394352926	ABCA3	c.89T>G (p.Phe30Cys) n.652T>G
16	g.2326240A>G	CA394352930	ABCA3	c.89T>C (p.Phe30Ser) n.652T>C	dbSNP gnomAD v2 gnomAD v4
16	g.2326240A>T	CA394352931	ABCA3	c.89T>A (p.Phe30Tyr) n.652T>A	gnomAD v4
16	g.2326241A>C	CA394352934	ABCA3	c.88T>G (p.Phe30Val) n.651T>G
16	g.2326241A>G	CA394352936	ABCA3	c.88T>C (p.Phe30Leu) n.651T>C	gnomAD v4
16	g.2326241A>T	CA394352937	ABCA3	c.88T>A (p.Phe30Ile) n.651T>A
16	g.2326242G>A	CA7841787	ABCA3	c.87C>T (p.Leu29=) n.650C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326242G>C	CA493361949	ABCA3	c.87C>G (p.Leu29=) n.650C>G
16	g.2326242G=	CA2202169248	ABCA3	c.87C= (p.Leu29=) n.650C=
16	g.2326242G>T	CA493361950	ABCA3	c.87C>A (p.Leu29=) n.650C>A
16	g.2326243A>C	CA394352946	ABCA3	c.86T>G (p.Leu29Arg) n.649T>G
16	g.2326243A>G	CA394352943	ABCA3	c.86T>C (p.Leu29Pro) n.649T>C
16	g.2326243A>T	CA394352941	ABCA3	c.86T>A (p.Leu29His) n.649T>A
16	g.2326244G>A	CA394352949	ABCA3	c.85C>T (p.Leu29Phe) n.648C>T
16	g.2326244G>C	CA7841788	ABCA3	c.85C>G (p.Leu29Val) n.648C>G	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326244G=	CA2202169250	ABCA3	c.85C= (p.Leu29=) n.648C=
16	g.2326244G>T	CA394352951	ABCA3	c.85C>A (p.Leu29Ile) n.648C>A
16	g.2326245T>A	CA394352961	ABCA3	c.84A>T (p.Glu28Asp) n.647A>T
16	g.2326245T>C	CA493361951	ABCA3	c.84A>G (p.Glu28=) n.647A>G	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.2326245T>G	CA394352963	ABCA3	c.84A>C (p.Glu28Asp) n.647A>C	dbSNP
16	g.2326245T=	CA2202169253	ABCA3	c.84A= (p.Glu28=) n.647A=
16	g.2326246T>A	CA394352967	ABCA3	c.83A>T (p.Glu28Val) n.646A>T	dbSNP
16	g.2326246T>C	CA394352968	ABCA3	c.83A>G (p.Glu28Gly) n.646A>G
16	g.2326246T>G	CA394352971	ABCA3	c.83A>C (p.Glu28Ala) n.646A>C	dbSNP gnomAD v3 gnomAD v4
16	g.2326246T=	CA2202169255	ABCA3	c.83A= (p.Glu28=) n.646A=
16	g.2326247C>A	CA394352975	ABCA3	c.82G>T (p.Glu28Ter) n.645G>T
16	g.2326247C=	CA2202169258	ABCA3	c.82G= (p.Glu28=) n.645G=
16	g.2326247C>G	CA394352978	ABCA3	c.82G>C (p.Glu28Gln) n.645G>C
16	g.2326247C>T	CA7841789	ABCA3	c.82G>A (p.Glu28Lys) n.645G>A	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326248C>A	CA493361952	ABCA3	c.81G>T (p.Leu27=) n.644G>T
16	g.2326248C=	CA2202169260	ABCA3	c.81G= (p.Leu27=) n.644G=
16	g.2326248C>G	CA493361953	ABCA3	c.81G>C (p.Leu27=) n.644G>C
16	g.2326248C>T	CA493361954	ABCA3	c.81G>A (p.Leu27=) n.644G>A	dbSNP gnomAD v2 gnomAD v4
16	g.2326249A>C	CA394352983	ABCA3	c.80T>G (p.Leu27Arg) n.643T>G
16	g.2326249A>G	CA394352984	ABCA3	c.80T>C (p.Leu27Pro) n.643T>C	ClinVar
16	g.2326249A>T	CA394352988	ABCA3	c.80T>A (p.Leu27Gln) n.643T>A
16	g.2326250G>A	CA493361955	ABCA3	c.79C>T (p.Leu27=) n.642C>T	dbSNP gnomAD v2 gnomAD v4
16	g.2326250G>C	CA276853903	ABCA3	c.79C>G (p.Leu27Val) n.642C>G	dbSNP
16	g.2326250G=	CA2202169265	ABCA3	c.79C= (p.Leu27=) n.642C=
16	g.2326250G>T	CA394352991	ABCA3	c.79C>A (p.Leu27Met) n.642C>A
16	g.2326251G>A	CA493361956	ABCA3	c.78C>T (p.Val26=) n.641C>T
16	g.2326251G>C	CA493361957	ABCA3	c.78C>G (p.Val26=) n.641C>G
16	g.2326251G>T	CA493361958	ABCA3	c.78C>A (p.Val26=) n.641C>A
16	g.2326252A>C	CA394352995	ABCA3	c.77T>G (p.Val26Gly) n.640T>G
16	g.2326252A>G	CA394353001	ABCA3	c.77T>C (p.Val26Ala) n.640T>C
16	g.2326252A>T	CA394352998	ABCA3	c.77T>A (p.Val26Asp) n.640T>A
16	g.2326253C>A	CA394353007	ABCA3	c.76G>T (p.Val26Phe) n.639G>T
16	g.2326253C>G	CA394353012	ABCA3	c.76G>C (p.Val26Leu) n.639G>C
16	g.2326253C>T	CA394353015	ABCA3	c.76G>A (p.Val26Ile) n.639G>A
16	g.2326254C>A	CA493361959	ABCA3	c.75G>T (p.Thr25=) n.638G>T	COSMIC
16	g.2326254C=	CA2202169272	ABCA3	c.75G= (p.Thr25=) n.638G=
16	g.2326254C>G	CA493361960	ABCA3	c.75G>C (p.Thr25=) n.638G>C	dbSNP
16	g.2326254C>T	CA7841790	ABCA3	c.75G>A (p.Thr25=) n.638G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2326255_2326257del	CA2631191209	ABCA3	c.73_75del (p.Thr25del) n.636_638del	gnomAD v4
16	g.2326255G>A	CA7841791	ABCA3	c.74C>T (p.Thr25Met) n.637C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
16	g.2326255G>C	CA394353027	ABCA3	c.74C>G (p.Thr25Arg) n.637C>G
16	g.2326255G=	CA2202169280	ABCA3	c.74C= (p.Thr25=) n.637C=
16	g.2326255G>T	CA394353029	ABCA3	c.74C>A (p.Thr25Lys) n.637C>A	dbSNP gnomAD v3 gnomAD v4
16	g.2326256T>A	CA394353034	ABCA3	c.73A>T (p.Thr25Ser) n.636A>T	COSMIC
16	g.2326256T>C	CA394353037	ABCA3	c.73A>G (p.Thr25Ala) n.636A>G
16	g.2326256T>G	CA394353040	ABCA3	c.73A>C (p.Thr25Pro) n.636A>C
16	g.2326257C>A	CA493361961	ABCA3	c.72G>T (p.Val24=) n.635G>T
16	g.2326257C>G	CA493361962	ABCA3	c.72G>C (p.Val24=) n.635G>C
16	g.2326257C>T	CA493361963	ABCA3	c.72G>A (p.Val24=) n.635G>A	gnomAD v4
16	g.2326258A>C	CA394353051	ABCA3	c.71T>G (p.Val24Gly) n.634T>G
16	g.2326258A>G	CA394353048	ABCA3	c.71T>C (p.Val24Ala) n.634T>C
16	g.2326258A>T	CA394353044	ABCA3	c.71T>A (p.Val24Glu) n.634T>A
16	g.2326259C>A	CA7841792	ABCA3	c.70G>T (p.Val24Leu) n.633G>T	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.2326259C=	CA2202169283	ABCA3	c.70G= (p.Val24=) n.633G=
16	g.2326259C>G	CA394353052	ABCA3	c.70G>C (p.Val24Leu) n.633G>C
16	g.2326259C>T	CA394353055	ABCA3	c.70G>A (p.Val24Met) n.633G>A
16	g.2326260C>A	CA493361964	ABCA3	c.69G>T (p.Leu23=) n.632G>T
16	g.2326260C>G	CA493361966	ABCA3	c.69G>C (p.Leu23=) n.632G>C
16	g.2326260C>T	CA493361965	ABCA3	c.69G>A (p.Leu23=) n.632G>A	gnomAD v4
16	g.2326261A>C	CA394353058	ABCA3	c.68T>G (p.Leu23Arg) n.631T>G
16	g.2326261A>G	CA394353060	ABCA3	c.68T>C (p.Leu23Pro) n.631T>C
16	g.2326261A>T	CA394353063	ABCA3	c.68T>A (p.Leu23Gln) n.631T>A
16	g.2326262G>A	CA493361967	ABCA3	c.67C>T (p.Leu23=) n.630C>T
16	g.2326262G>C	CA394353064	ABCA3	c.67C>G (p.Leu23Val) n.630C>G
16	g.2326262G>T	CA394353066	ABCA3	c.67C>A (p.Leu23Met) n.630C>A
16	g.2326263G>A	CA493361968	ABCA3	c.66C>T (p.Val22=) n.629C>T	COSMIC
16	g.2326263G>C	CA493361969	ABCA3	c.66C>G (p.Val22=) n.629C>G	gnomAD v4
16	g.2326263G>T	CA493361970	ABCA3	c.66C>A (p.Val22=) n.629C>A

Number of alleles fetched