Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73641101del	CA2659622948	ALMS1P1,NAT8	c.528del (p.Asp176GlufsTer?) n.19del	gnomAD v4
2	g.73641101G>A	CA427024293	ALMS1P1,NAT8	c.528C>T (p.Asp176=) n.19G>A	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641101G>C	CA347286972	ALMS1P1,NAT8	c.528C>G (p.Asp176Glu) n.19G>C
2	g.73641101G=	CA1261057157	ALMS1P1,NAT8	c.528C= (p.Asp176=) n.19G=
2	g.73641101G>T	CA347286975	ALMS1P1,NAT8	c.528C>A (p.Asp176Glu) n.19G>T
2	g.73641102T>A	CA347286979	ALMS1P1,NAT8	c.527A>T (p.Asp176Val) n.20T>A
2	g.73641102T>C	CA50371148	ALMS1P1,NAT8	c.527A>G (p.Asp176Gly) n.20T>C	ClinVar dbSNP gnomAD v4
2	g.73641102T>G	CA347286984	ALMS1P1,NAT8	c.527A>C (p.Asp176Ala) n.20T>G
2	g.73641102T=	CA1261057158	ALMS1P1,NAT8	c.527A= (p.Asp176=) n.20T=
2	g.73641103C>A	CA347286987	ALMS1P1,NAT8	c.526G>T (p.Asp176Tyr) n.21C>A
2	g.73641103C>G	CA347286990	ALMS1P1,NAT8	c.526G>C (p.Asp176His) n.21C>G
2	g.73641103C>T	CA347286992	ALMS1P1,NAT8	c.526G>A (p.Asp176Asn) n.21C>T
2	g.73641104C>A	CA427024298	ALMS1P1,NAT8	c.525G>T (p.Leu175=) n.22C>A
2	g.73641104C>G	CA427024299	ALMS1P1,NAT8	c.525G>C (p.Leu175=) n.22C>G
2	g.73641104C>T	CA427024300	ALMS1P1,NAT8	c.525G>A (p.Leu175=) n.22C>T	gnomAD v4
2	g.73641105A>C	CA347286995	ALMS1P1,NAT8	c.524T>G (p.Leu175Arg) n.23A>C
2	g.73641105A>G	CA347286996	ALMS1P1,NAT8	c.524T>C (p.Leu175Pro) n.23A>G
2	g.73641105A>T	CA347286998	ALMS1P1,NAT8	c.524T>A (p.Leu175Gln) n.23A>T
2	g.73641106G>A	CA427024304	ALMS1P1,NAT8	c.523C>T (p.Leu175=) n.24G>A	dbSNP gnomAD v2 gnomAD v4
2	g.73641106G>C	CA347287002	ALMS1P1,NAT8	c.523C>G (p.Leu175Val) n.24G>C	gnomAD v4
2	g.73641106G=	CA1261057159	ALMS1P1,NAT8	c.523C= (p.Leu175=) n.24G=
2	g.73641106G>T	CA347287001	ALMS1P1,NAT8	c.523C>A (p.Leu175Met) n.24G>T
2	g.73641107G>A	CA427024305	ALMS1P1,NAT8	c.522C>T (p.Ile174=) n.25G>A
2	g.73641107G>C	CA347287005	ALMS1P1,NAT8	c.522C>G (p.Ile174Met) n.25G>C
2	g.73641107G>T	CA427024306	ALMS1P1,NAT8	c.522C>A (p.Ile174=) n.25G>T
2	g.73641108A=	CA1261057160	ALMS1P1,NAT8	c.521T= (p.Ile174=) n.26A=
2	g.73641108A>C	CA347287007	ALMS1P1,NAT8	c.521T>G (p.Ile174Ser) n.26A>C
2	g.73641108A>G	CA1715674	ALMS1P1,NAT8	c.521T>C (p.Ile174Thr) n.26A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641108A>T	CA347287009	ALMS1P1,NAT8	c.521T>A (p.Ile174Asn) n.26A>T
2	g.73641109T>A	CA347287011	ALMS1P1,NAT8	c.520A>T (p.Ile174Phe) n.27T>A	gnomAD v4
2	g.73641109T>C	CA1715675	ALMS1P1,NAT8	c.520A>G (p.Ile174Val) n.27T>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641109T>G	CA347287013	ALMS1P1,NAT8	c.520A>C (p.Ile174Leu) n.27T>G	dbSNP
2	g.73641109T=	CA1261057161	ALMS1P1,NAT8	c.520A= (p.Ile174=) n.27T=
2	g.73641110A>C	CA427024313	ALMS1P1,NAT8	c.519T>G (p.Val173=) n.28A>C
2	g.73641110A>G	CA427024311	ALMS1P1,NAT8	c.519T>C (p.Val173=) n.28A>G
2	g.73641110A>T	CA427024312	ALMS1P1,NAT8	c.519T>A (p.Val173=) n.28A>T
2	g.73641111A>C	CA347287016	ALMS1P1,NAT8	c.518T>G (p.Val173Gly) n.29A>C
2	g.73641111A>G	CA347287014	ALMS1P1,NAT8	c.518T>C (p.Val173Ala) n.29A>G
2	g.73641111A>T	CA347287015	ALMS1P1,NAT8	c.518T>A (p.Val173Asp) n.29A>T
2	g.73641112C>A	CA347287018	ALMS1P1,NAT8	c.517G>T (p.Val173Phe) n.30C>A
2	g.73641112C=	CA1261057162	ALMS1P1,NAT8	c.517G= (p.Val173=) n.30C=
2	g.73641112C>G	CA347287020	ALMS1P1,NAT8	c.517G>C (p.Val173Leu) n.30C>G	dbSNP
2	g.73641112C>T	CA347287021	ALMS1P1,NAT8	c.517G>A (p.Val173Ile) n.30C>T
2	g.73641113T>A	CA347287022	ALMS1P1,NAT8	c.516A>T (p.Glu172Asp) n.31T>A
2	g.73641113T>C	CA427024322	ALMS1P1,NAT8	c.516A>G (p.Glu172=) n.31T>C
2	g.73641113T>G	CA347287024	ALMS1P1,NAT8	c.516A>C (p.Glu172Asp) n.31T>G
2	g.73641114T>A	CA347287027	ALMS1P1,NAT8	c.515A>T (p.Glu172Val) n.32T>A
2	g.73641114T>C	CA347287030	ALMS1P1,NAT8	c.515A>G (p.Glu172Gly) n.32T>C
2	g.73641114T>G	CA347287028	ALMS1P1,NAT8	c.515A>C (p.Glu172Ala) n.32T>G
2	g.73641115C>A	CA1715676	ALMS1P1,NAT8	c.514G>T (p.Glu172Ter) n.33C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched