Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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

Number of alleles fetched