Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
16	g.2326149C>A	CA394352421	ABCA3	c.180G>T (p.Gln60His) n.743G>T
16	g.2326149C>G	CA394352423	ABCA3	c.180G>C (p.Gln60His) n.743G>C	gnomAD v4
16	g.2326149C>T	CA493361883	ABCA3	c.180G>A (p.Gln60=) n.743G>A	ClinVar gnomAD v4
16	g.2326150T>A	CA394352432	ABCA3	c.179A>T (p.Gln60Leu) n.742A>T
16	g.2326150T>C	CA394352430	ABCA3	c.179A>G (p.Gln60Arg) n.742A>G
16	g.2326150T>G	CA394352427	ABCA3	c.179A>C (p.Gln60Pro) n.742A>C
16	g.2326151G>A	CA394352435	ABCA3	c.178C>T (p.Gln60Ter) n.741C>T
16	g.2326151G>C	CA394352436	ABCA3	c.178C>G (p.Gln60Glu) n.741C>G	gnomAD v4
16	g.2326151G>T	CA394352439	ABCA3	c.178C>A (p.Gln60Lys) n.741C>A
16	g.2326152G>A	CA493361885	ABCA3	c.177C>T (p.Gly59=) n.740C>T
16	g.2326152G>C	CA493361886	ABCA3	c.177C>G (p.Gly59=) n.740C>G	ClinVar
16	g.2326152G>T	CA493361887	ABCA3	c.177C>A (p.Gly59=) n.740C>A
16	g.2326153C>A	CA394352441	ABCA3	c.176G>T (p.Gly59Val) n.739G>T
16	g.2326153C>G	CA394352443	ABCA3	c.176G>C (p.Gly59Ala) n.739G>C
16	g.2326153C>T	CA394352445	ABCA3	c.176G>A (p.Gly59Asp) n.739G>A
16	g.2326154C>A	CA394352446	ABCA3	c.175G>T (p.Gly59Cys) n.738G>T
16	g.2326154C>G	CA394352450	ABCA3	c.175G>C (p.Gly59Arg) n.738G>C
16	g.2326154C>T	CA394352447	ABCA3	c.175G>A (p.Gly59Ser) n.738G>A
16	g.2326155C>A	CA7841765	ABCA3	c.174G>T (p.Pro58=) n.737G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326155C=	CA2202169096	ABCA3	c.174G= (p.Pro58=) n.737G=
16	g.2326155C>G	CA493361890	ABCA3	c.174G>C (p.Pro58=) n.737G>C	gnomAD v4
16	g.2326155C>T	CA7841766	ABCA3	c.174G>A (p.Pro58=) n.737G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326156G>A	CA7841767	ABCA3	c.173C>T (p.Pro58Leu) n.736C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326156G>C	CA394352458	ABCA3	c.173C>G (p.Pro58Arg) n.736C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326156G=	CA2202169099	ABCA3	c.173C= (p.Pro58=) n.736C=
16	g.2326156G>T	CA394352460	ABCA3	c.173C>A (p.Pro58Gln) n.736C>A	gnomAD v4
16	g.2326157G>A	CA394352463	ABCA3	c.172C>T (p.Pro58Ser) n.735C>T
16	g.2326157G>C	CA394352465	ABCA3	c.172C>G (p.Pro58Ala) n.735C>G
16	g.2326157G>T	CA394352466	ABCA3	c.172C>A (p.Pro58Thr) n.735C>A
16	g.2326158G>A	CA493361892	ABCA3	c.171C>T (p.Tyr57=) n.734C>T	gnomAD v4
16	g.2326158G>C	CA394352468	ABCA3	c.171C>G (p.Tyr57Ter) n.734C>G
16	g.2326158G>T	CA394352470	ABCA3	c.171C>A (p.Tyr57Ter) n.734C>A
16	g.2326159T>A	CA394352473	ABCA3	c.170A>T (p.Tyr57Phe) n.733A>T
16	g.2326159T>C	CA394352475	ABCA3	c.170A>G (p.Tyr57Cys) n.733A>G	dbSNP
16	g.2326159T>G	CA394352477	ABCA3	c.170A>C (p.Tyr57Ser) n.733A>C	dbSNP
16	g.2326159T=	CA2202169101	ABCA3	c.170A= (p.Tyr57=) n.733A=
16	g.2326160A>C	CA394352481	ABCA3	c.169T>G (p.Tyr57Asp) n.732T>G
16	g.2326160A>G	CA394352484	ABCA3	c.169T>C (p.Tyr57His) n.732T>C
16	g.2326160A>T	CA394352480	ABCA3	c.169T>A (p.Tyr57Asn) n.732T>A
16	g.2326160_2326162del	CA2631191207	ABCA3	c.167_169del (p.Ile56_Tyr57delinsAsn) n.730_732del	gnomAD v4
16	g.2326161G>A	CA7841768	ABCA3	c.168C>T (p.Ile56=) n.731C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.2326161G>C	CA394352487	ABCA3	c.168C>G (p.Ile56Met) n.731C>G
16	g.2326161G=	CA2202169105	ABCA3	c.168C= (p.Ile56=) n.731C=
16	g.2326161G>T	CA493361894	ABCA3	c.168C>A (p.Ile56=) n.731C>A
16	g.2326162A=	CA2202169108	ABCA3	c.167T= (p.Ile56=) n.730T=
16	g.2326162A>C	CA394352494	ABCA3	c.167T>G (p.Ile56Ser) n.730T>G	dbSNP gnomAD v4
16	g.2326162A>G	CA394352492	ABCA3	c.167T>C (p.Ile56Thr) n.730T>C
16	g.2326162A>T	CA394352495	ABCA3	c.167T>A (p.Ile56Asn) n.730T>A
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

Number of alleles fetched