Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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
2	g.73641115C=	CA1261057163	ALMS1P1,NAT8	c.514G= (p.Glu172=) n.33C=
2	g.73641115C>G	CA347287033	ALMS1P1,NAT8	c.514G>C (p.Glu172Gln) n.33C>G
2	g.73641115C>T	CA347287034	ALMS1P1,NAT8	c.514G>A (p.Glu172Lys) n.33C>T	dbSNP
2	g.73641116A>C	CA347287036	ALMS1P1,NAT8	c.513T>G (p.Ser171Arg) n.34A>C
2	g.73641116A>G	CA427024328	ALMS1P1,NAT8	c.513T>C (p.Ser171=) n.34A>G
2	g.73641116A>T	CA347287037	ALMS1P1,NAT8	c.513T>A (p.Ser171Arg) n.34A>T
2	g.73641117C>A	CA347287038	ALMS1P1,NAT8	c.512G>T (p.Ser171Ile) n.35C>A
2	g.73641117C=	CA1261057164	ALMS1P1,NAT8	c.512G= (p.Ser171=) n.35C=
2	g.73641117C>G	CA347287039	ALMS1P1,NAT8	c.512G>C (p.Ser171Thr) n.35C>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641117C>T	CA347287040	ALMS1P1,NAT8	c.512G>A (p.Ser171Asn) n.35C>T	gnomAD v4
2	g.73641118T>A	CA347287043	ALMS1P1,NAT8	c.511A>T (p.Ser171Cys) n.36T>A
2	g.73641118T>C	CA347287044	ALMS1P1,NAT8	c.511A>G (p.Ser171Gly) n.36T>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641118T>G	CA347287046	ALMS1P1,NAT8	c.511A>C (p.Ser171Arg) n.36T>G
2	g.73641118T=	CA1261057165	ALMS1P1,NAT8	c.511A= (p.Ser171=) n.36T=
2	g.73641119G>A	CA1715677	ALMS1P1,NAT8	c.510C>T (p.Tyr170=) n.37G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641119G>C	CA347287049	ALMS1P1,NAT8	c.510C>G (p.Tyr170Ter) n.37G>C
2	g.73641119G=	CA1261057166	ALMS1P1,NAT8	c.510C= (p.Tyr170=) n.37G=
2	g.73641119G>T	CA347287047	ALMS1P1,NAT8	c.510C>A (p.Tyr170Ter) n.37G>T
2	g.73641120T>A	CA347287052	ALMS1P1,NAT8	c.509A>T (p.Tyr170Phe) n.38T>A
2	g.73641120T>C	CA347287054	ALMS1P1,NAT8	c.509A>G (p.Tyr170Cys) n.38T>C
2	g.73641120T>G	CA347287053	ALMS1P1,NAT8	c.509A>C (p.Tyr170Ser) n.38T>G
2	g.73641121A=	CA1261057167	ALMS1P1,NAT8	c.508T= (p.Tyr170=) n.39A=
2	g.73641121A>C	CA347287057	ALMS1P1,NAT8	c.508T>G (p.Tyr170Asp) n.39A>C
2	g.73641121A>G	CA347287058	ALMS1P1,NAT8	c.508T>C (p.Tyr170His) n.39A>G	dbSNP
2	g.73641121A>T	CA347287060	ALMS1P1,NAT8	c.508T>A (p.Tyr170Asn) n.39A>T
2	g.73641122G>A	CA427024335	ALMS1P1,NAT8	c.507C>T (p.Gly169=) n.40G>A	gnomAD v4 COSMIC
2	g.73641122G>C	CA427024336	ALMS1P1,NAT8	c.507C>G (p.Gly169=) n.40G>C
2	g.73641122G=	CA1261057168	ALMS1P1,NAT8	c.507C= (p.Gly169=) n.40G=
2	g.73641122G>T	CA1715678	ALMS1P1,NAT8	c.507C>A (p.Gly169=) n.40G>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641123C>A	CA347287063	ALMS1P1,NAT8	c.506G>T (p.Gly169Val) n.41C>A	dbSNP
2	g.73641123C=	CA1261057169	ALMS1P1,NAT8	c.506G= (p.Gly169=) n.41C=
2	g.73641123C>G	CA347287065	ALMS1P1,NAT8	c.506G>C (p.Gly169Ala) n.41C>G	dbSNP gnomAD v2 gnomAD v4
2	g.73641123C>T	CA1715679	ALMS1P1,NAT8	c.506G>A (p.Gly169Asp) n.41C>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641124C>A	CA347287072	ALMS1P1,NAT8	c.505G>T (p.Gly169Cys) n.42C>A
2	g.73641124C>G	CA347287069	ALMS1P1,NAT8	c.505G>C (p.Gly169Arg) n.42C>G
2	g.73641124C>T	CA347287070	ALMS1P1,NAT8	c.505G>A (p.Gly169Ser) n.42C>T
2	g.73641125C>A	CA347287074	ALMS1P1,NAT8	c.504G>T (p.Gln168His) n.43C>A
2	g.73641125C>G	CA347287076	ALMS1P1,NAT8	c.504G>C (p.Gln168His) n.43C>G
2	g.73641125C>T	CA427024341	ALMS1P1,NAT8	c.504G>A (p.Gln168=) n.43C>T

Number of alleles fetched