Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73641099G>A	CA1715672	ALMS1P1,NAT8	c.530C>T (p.Thr177Ile) n.17G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641099G>C	CA347286963	ALMS1P1,NAT8	c.530C>G (p.Thr177Ser) n.17G>C
2	g.73641099G=	CA1261057155	ALMS1P1,NAT8	c.530C= (p.Thr177=) n.17G=
2	g.73641099G>T	CA347286964	ALMS1P1,NAT8	c.530C>A (p.Thr177Asn) n.17G>T
2	g.73641100T>A	CA347286966	ALMS1P1,NAT8	c.529A>T (p.Thr177Ser) n.18T>A
2	g.73641100T>C	CA347286969	ALMS1P1,NAT8	c.529A>G (p.Thr177Ala) n.18T>C
2	g.73641100T>G	CA1715673	ALMS1P1,NAT8	c.529A>C (p.Thr177Pro) n.18T>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641100T=	CA1261057156	ALMS1P1,NAT8	c.529A= (p.Thr177=) n.18T=
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
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
2	g.73641126T>A	CA347287079	ALMS1P1,NAT8	c.503A>T (p.Gln168Leu) n.44T>A
2	g.73641126T>C	CA347287081	ALMS1P1,NAT8	c.503A>G (p.Gln168Arg) n.44T>C
2	g.73641126T>G	CA347287082	ALMS1P1,NAT8	c.503A>C (p.Gln168Pro) n.44T>G
2	g.73641127G>A	CA50371195	ALMS1P1,NAT8	c.502C>T (p.Gln168Ter) n.45G>A	dbSNP gnomAD v4
2	g.73641127G>C	CA347287085	ALMS1P1,NAT8	c.502C>G (p.Gln168Glu) n.45G>C
2	g.73641127G=	CA1261057170	ALMS1P1,NAT8	c.502C= (p.Gln168=) n.45G=
2	g.73641127G>T	CA347287084	ALMS1P1,NAT8	c.502C>A (p.Gln168Lys) n.45G>T
2	g.73641128G>A	CA427024348	ALMS1P1,NAT8	c.501C>T (p.Asp167=) n.46G>A
2	g.73641128G>C	CA347287087	ALMS1P1,NAT8	c.501C>G (p.Asp167Glu) n.46G>C
2	g.73641128G>T	CA347287088	ALMS1P1,NAT8	c.501C>A (p.Asp167Glu) n.46G>T
2	g.73641129T>A	CA347287091	ALMS1P1,NAT8	c.500A>T (p.Asp167Val) n.47T>A
2	g.73641129T>C	CA347287092	ALMS1P1,NAT8	c.500A>G (p.Asp167Gly) n.47T>C	gnomAD v4
2	g.73641129T>G	CA347287094	ALMS1P1,NAT8	c.500A>C (p.Asp167Ala) n.47T>G
2	g.73641130C>A	CA347287096	ALMS1P1,NAT8	c.499G>T (p.Asp167Tyr) n.48C>A
2	g.73641130C>G	CA347287098	ALMS1P1,NAT8	c.499G>C (p.Asp167His) n.48C>G
2	g.73641130C>T	CA347287099	ALMS1P1,NAT8	c.499G>A (p.Asp167Asn) n.48C>T	gnomAD v4
2	g.73641131C>A	CA427024352	ALMS1P1,NAT8	c.498G>T (p.Arg166=) n.49C>A
2	g.73641131C>G	CA427024353	ALMS1P1,NAT8	c.498G>C (p.Arg166=) n.49C>G
2	g.73641131C>T	CA427024354	ALMS1P1,NAT8	c.498G>A (p.Arg166=) n.49C>T
2	g.73641132C>A	CA347287102	ALMS1P1,NAT8	c.497G>T (p.Arg166Leu) n.50C>A
2	g.73641132C=	CA1261057171	ALMS1P1,NAT8	c.497G= (p.Arg166=) n.50C=
2	g.73641132C>G	CA347287104	ALMS1P1,NAT8	c.497G>C (p.Arg166Pro) n.50C>G	gnomAD v4
2	g.73641132C>T	CA1715680	ALMS1P1,NAT8	c.497G>A (p.Arg166Gln) n.50C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641133G>A	CA1715682	ALMS1P1,NAT8	c.496C>T (p.Arg166Trp) n.51G>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641133G>C	CA347287107	ALMS1P1,NAT8	c.496C>G (p.Arg166Gly) n.51G>C
2	g.73641133G=	CA1261057172	ALMS1P1,NAT8	c.496C= (p.Arg166=) n.51G=
2	g.73641133G>T	CA1715681	ALMS1P1,NAT8	c.496C>A (p.Arg166=) n.51G>T	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641134G>A	CA427024362	ALMS1P1,NAT8	c.495C>T (p.Ala165=) n.52G>A
2	g.73641134G>C	CA427024363	ALMS1P1,NAT8	c.495C>G (p.Ala165=) n.52G>C
2	g.73641134G>T	CA427024364	ALMS1P1,NAT8	c.495C>A (p.Ala165=) n.52G>T
2	g.73641135G>A	CA1715683	ALMS1P1,NAT8	c.494C>T (p.Ala165Val) n.53G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641135G>C	CA347287113	ALMS1P1,NAT8	c.494C>G (p.Ala165Gly) n.53G>C
2	g.73641135G=	CA1261057173	ALMS1P1,NAT8	c.494C= (p.Ala165=) n.53G=
2	g.73641135G>T	CA347287115	ALMS1P1,NAT8	c.494C>A (p.Ala165Asp) n.53G>T	gnomAD v4
2	g.73641136C>A	CA1715684	ALMS1P1,NAT8	c.493G>T (p.Ala165Ser) n.54C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641136C=	CA1261057174	ALMS1P1,NAT8	c.493G= (p.Ala165=) n.54C=
2	g.73641136C>G	CA347287117	ALMS1P1,NAT8	c.493G>C (p.Ala165Pro) n.54C>G
2	g.73641136C>T	CA347287119	ALMS1P1,NAT8	c.493G>A (p.Ala165Thr) n.54C>T	COSMIC
2	g.73641137A>C	CA347287120	ALMS1P1,NAT8	c.492T>G (p.Phe164Leu) n.55A>C
2	g.73641137A>G	CA427024371	ALMS1P1,NAT8	c.492T>C (p.Phe164=) n.55A>G
2	g.73641137A>T	CA347287122	ALMS1P1,NAT8	c.492T>A (p.Phe164Leu) n.55A>T
2	g.73641138A>C	CA347287124	ALMS1P1,NAT8	c.491T>G (p.Phe164Cys) n.56A>C
2	g.73641138A>G	CA347287126	ALMS1P1,NAT8	c.491T>C (p.Phe164Ser) n.56A>G
2	g.73641138A>T	CA347287128	ALMS1P1,NAT8	c.491T>A (p.Phe164Tyr) n.56A>T
2	g.73641139A>C	CA347287130	ALMS1P1,NAT8	c.490T>G (p.Phe164Val) n.57A>C
2	g.73641139A>G	CA347287131	ALMS1P1,NAT8	c.490T>C (p.Phe164Leu) n.57A>G
2	g.73641139A>T	CA347287133	ALMS1P1,NAT8	c.490T>A (p.Phe164Ile) n.57A>T
2	g.73641140C>A	CA347287135	ALMS1P1,NAT8	c.489G>T (p.Gln163His) n.58C>A	gnomAD v4
2	g.73641140C>G	CA347287136	ALMS1P1,NAT8	c.489G>C (p.Gln163His) n.58C>G
2	g.73641140C>T	CA427024379	ALMS1P1,NAT8	c.489G>A (p.Gln163=) n.58C>T
2	g.73641141T>A	CA347287137	ALMS1P1,NAT8	c.488A>T (p.Gln163Leu) n.59T>A
2	g.73641141T>C	CA347287139	ALMS1P1,NAT8	c.488A>G (p.Gln163Arg) n.59T>C
2	g.73641141T>G	CA1715685	ALMS1P1,NAT8	c.488A>C (p.Gln163Pro) n.59T>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641141T=	CA1261057175	ALMS1P1,NAT8	c.488A= (p.Gln163=) n.59T=
2	g.73641141_73641142del	CA2577005390	ALMS1P1,NAT8	c.487_488del (p.Gln163ValfsTer9) n.59_60del	gnomAD v4
2	g.73641142G>A	CA347287142	ALMS1P1,NAT8	c.487C>T (p.Gln163Ter) n.60G>A	dbSNP gnomAD v4
2	g.73641142G>C	CA347287144	ALMS1P1,NAT8	c.487C>G (p.Gln163Glu) n.60G>C
2	g.73641142G=	CA1261057176	ALMS1P1,NAT8	c.487C= (p.Gln163=) n.60G=
2	g.73641142G>T	CA347287146	ALMS1P1,NAT8	c.487C>A (p.Gln163Lys) n.60G>T
2	g.73641142_73641146dup	CA534125777	ALMS1P1,NAT8	c.483_487dup (p.Gln163ProfsTer?) n.60_64dup	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641143G>A	CA427024388	ALMS1P1,NAT8	c.486C>T (p.Leu162=) n.61G>A
2	g.73641143G>C	CA427024390	ALMS1P1,NAT8	c.486C>G (p.Leu162=) n.61G>C
2	g.73641143G>T	CA427024389	ALMS1P1,NAT8	c.486C>A (p.Leu162=) n.61G>T
2	g.73641144A>C	CA347287148	ALMS1P1,NAT8	c.485T>G (p.Leu162Arg) n.62A>C
2	g.73641144A>G	CA347287150	ALMS1P1,NAT8	c.485T>C (p.Leu162Pro) n.62A>G
2	g.73641144A>T	CA347287152	ALMS1P1,NAT8	c.485T>A (p.Leu162His) n.62A>T
2	g.73641145G>A	CA347287154	ALMS1P1,NAT8	c.484C>T (p.Leu162Phe) n.63G>A	gnomAD v4
2	g.73641145G>C	CA347287156	ALMS1P1,NAT8	c.484C>G (p.Leu162Val) n.63G>C	dbSNP gnomAD v3 gnomAD v4
2	g.73641145G=	CA1261057177	ALMS1P1,NAT8	c.484C= (p.Leu162=) n.63G=
2	g.73641145G>T	CA347287157	ALMS1P1,NAT8	c.484C>A (p.Leu162Ile) n.63G>T	COSMIC
2	g.73641146G>A	CA427024396	ALMS1P1,NAT8	c.483C>T (p.Val161=) n.64G>A
2	g.73641146G>C	CA427024397	ALMS1P1,NAT8	c.483C>G (p.Val161=) n.64G>C
2	g.73641146G>T	CA427024398	ALMS1P1,NAT8	c.483C>A (p.Val161=) n.64G>T
2	g.73641147A=	CA1261057178	ALMS1P1,NAT8	c.482T= (p.Val161=) n.65A=
2	g.73641147A>C	CA347287160	ALMS1P1,NAT8	c.482T>G (p.Val161Gly) n.65A>C
2	g.73641147A>G	CA347287163	ALMS1P1,NAT8	c.482T>C (p.Val161Ala) n.65A>G	dbSNP
2	g.73641147A>T	CA347287162	ALMS1P1,NAT8	c.482T>A (p.Val161Asp) n.65A>T
2	g.73641148C>A	CA347287165	ALMS1P1,NAT8	c.481G>T (p.Val161Phe) n.66C>A	dbSNP gnomAD v2 gnomAD v4
2	g.73641148C=	CA1261057179	ALMS1P1,NAT8	c.481G= (p.Val161=) n.66C=
2	g.73641148C>G	CA347287167	ALMS1P1,NAT8	c.481G>C (p.Val161Leu) n.66C>G
2	g.73641148C>T	CA347287166	ALMS1P1,NAT8	c.481G>A (p.Val161Ile) n.66C>T	gnomAD v4
2	g.73641149A=	CA1261057180	ALMS1P1,NAT8	c.480T= (p.Thr160=) n.67A=
2	g.73641149A>C	CA427024407	ALMS1P1,NAT8	c.480T>G (p.Thr160=) n.67A>C	dbSNP gnomAD v3 gnomAD v4
2	g.73641149A>G	CA427024408	ALMS1P1,NAT8	c.480T>C (p.Thr160=) n.67A>G
2	g.73641149A>T	CA427024409	ALMS1P1,NAT8	c.480T>A (p.Thr160=) n.67A>T
2	g.73641150G>A	CA347287170	ALMS1P1,NAT8	c.479C>T (p.Thr160Ile) n.68G>A	COSMIC
2	g.73641150G>C	CA347287171	ALMS1P1,NAT8	c.479C>G (p.Thr160Ser) n.68G>C
2	g.73641150G=	CA1261057181	ALMS1P1,NAT8	c.479C= (p.Thr160=) n.68G=
2	g.73641150G>T	CA1715686	ALMS1P1,NAT8	c.479C>A (p.Thr160Asn) n.68G>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641151T>A	CA347287175	ALMS1P1,NAT8	c.478A>T (p.Thr160Ser) n.69T>A
2	g.73641151T>C	CA347287176	ALMS1P1,NAT8	c.478A>G (p.Thr160Ala) n.69T>C
2	g.73641151T>G	CA347287178	ALMS1P1,NAT8	c.478A>C (p.Thr160Pro) n.69T>G
2	g.73641152C>A	CA1715687	ALMS1P1,NAT8	c.477G>T (p.Arg159Ser) n.70C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641152C=	CA1261057182	ALMS1P1,NAT8	c.477G= (p.Arg159=) n.70C=
2	g.73641152C>G	CA347287181	ALMS1P1,NAT8	c.477G>C (p.Arg159Ser) n.70C>G
2	g.73641152C>T	CA427024413	ALMS1P1,NAT8	c.477G>A (p.Arg159=) n.70C>T
2	g.73641153C>A	CA347287182	ALMS1P1,NAT8	c.476G>T (p.Arg159Met) n.71C>A
2	g.73641153C>G	CA347287184	ALMS1P1,NAT8	c.476G>C (p.Arg159Thr) n.71C>G	gnomAD v4
2	g.73641153C>T	CA347287186	ALMS1P1,NAT8	c.476G>A (p.Arg159Lys) n.71C>T
2	g.73641154T>A	CA347287190	ALMS1P1,NAT8	c.475A>T (p.Arg159Trp) n.72T>A
2	g.73641154T>C	CA347287188	ALMS1P1,NAT8	c.475A>G (p.Arg159Gly) n.72T>C
2	g.73641154T>G	CA427024421	ALMS1P1,NAT8	c.475A>C (p.Arg159=) n.72T>G	gnomAD v4
2	g.73641155G>A	CA1715689	ALMS1P1,NAT8	c.474C>T (p.Val158=) n.73G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641155G>C	CA1715688	ALMS1P1,NAT8	c.474C>G (p.Val158=) n.73G>C	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641155G=	CA1261057183	ALMS1P1,NAT8	c.474C= (p.Val158=) n.73G=
2	g.73641155G>T	CA427024422	ALMS1P1,NAT8	c.474C>A (p.Val158=) n.73G>T	dbSNP gnomAD v4
2	g.73641156A>C	CA347287193	ALMS1P1,NAT8	c.473T>G (p.Val158Gly) n.74A>C
2	g.73641156A>G	CA347287194	ALMS1P1,NAT8	c.473T>C (p.Val158Ala) n.74A>G	gnomAD v4
2	g.73641156A>T	CA347287195	ALMS1P1,NAT8	c.473T>A (p.Val158Asp) n.74A>T
2	g.73641157C>A	CA347287198	ALMS1P1,NAT8	c.472G>T (p.Val158Phe) n.75C>A
2	g.73641157C=	CA1261057184	ALMS1P1,NAT8	c.472G= (p.Val158=) n.75C=
2	g.73641157C>G	CA347287199	ALMS1P1,NAT8	c.472G>C (p.Val158Leu) n.75C>G	dbSNP gnomAD v3 gnomAD v4
2	g.73641157C>T	CA347287200	ALMS1P1,NAT8	c.472G>A (p.Val158Ile) n.75C>T
2	g.73641158C>A	CA427024429	ALMS1P1,NAT8	c.471G>T (p.Leu157=) n.76C>A
2	g.73641158C=	CA1261057185	ALMS1P1,NAT8	c.471G= (p.Leu157=) n.76C=
2	g.73641158C>G	CA1715690	ALMS1P1,NAT8	c.471G>C (p.Leu157=) n.76C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641158C>T	CA427024428	ALMS1P1,NAT8	c.471G>A (p.Leu157=) n.76C>T
2	g.73641158_73641159insTTCTGTC	CA2659622949	ALMS1P1,NAT8	c.471_472insACAGAAG (p.Val158ThrfsTer17) n.76_77insTTCTGTC	gnomAD v4
2	g.73641159A>C	CA347287204	ALMS1P1,NAT8	c.470T>G (p.Leu157Arg) n.77A>C
2	g.73641159A>G	CA347287205	ALMS1P1,NAT8	c.470T>C (p.Leu157Pro) n.77A>G
2	g.73641159A>T	CA347287208	ALMS1P1,NAT8	c.470T>A (p.Leu157Gln) n.77A>T
2	g.73641160G>A	CA427024434	ALMS1P1,NAT8	c.469C>T (p.Leu157=) n.78G>A
2	g.73641160G>C	CA347287211	ALMS1P1,NAT8	c.469C>G (p.Leu157Val) n.78G>C
2	g.73641160G>T	CA347287209	ALMS1P1,NAT8	c.469C>A (p.Leu157Met) n.78G>T
2	g.73641160_73641161insCTTCTGTCAGGGCACCCAGACTTTTTGATACCCA	CA2659622950	ALMS1P1,NAT8	c.468_469insTGGGTATCAAAAAGTCTGGGTGCCCTGACAGAAG (p.Leu157TrpfsTer27) n.78_79insCTTCTGTCAGGGCACCCAGACTTTTTGATACCCA	gnomAD v4
2	g.73641161G>A	CA427024439	ALMS1P1,NAT8	c.468C>T (p.Ala156=) n.79G>A	dbSNP gnomAD v4 COSMIC
2	g.73641161G>C	CA427024445	ALMS1P1,NAT8	c.468C>G (p.Ala156=) n.79G>C
2	g.73641161G=	CA1261057186	ALMS1P1,NAT8	c.468C= (p.Ala156=) n.79G=
2	g.73641161G>T	CA427024446	ALMS1P1,NAT8	c.468C>A (p.Ala156=) n.79G>T	dbSNP
2	g.73641162G>A	CA347287214	ALMS1P1,NAT8	c.467C>T (p.Ala156Val) n.80G>A
2	g.73641162G>C	CA347287215	ALMS1P1,NAT8	c.467C>G (p.Ala156Gly) n.80G>C
2	g.73641162G>T	CA347287217	ALMS1P1,NAT8	c.467C>A (p.Ala156Asp) n.80G>T
2	g.73641163C>A	CA1715691	ALMS1P1,NAT8	c.466G>T (p.Ala156Ser) n.81C>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641163C=	CA1261057187	ALMS1P1,NAT8	c.466G= (p.Ala156=) n.81C=
2	g.73641163C>G	CA347287220	ALMS1P1,NAT8	c.466G>C (p.Ala156Pro) n.81C>G
2	g.73641163C>T	CA347287222	ALMS1P1,NAT8	c.466G>A (p.Ala156Thr) n.81C>T	dbSNP gnomAD v2 gnomAD v4
2	g.73641164T>A	CA50371264	ALMS1P1,NAT8	c.465A>T (p.Lys155Asn) n.82T>A	dbSNP
2	g.73641164T>C	CA427024452	ALMS1P1,NAT8	c.465A>G (p.Lys155=) n.82T>C
2	g.73641164T>G	CA347287225	ALMS1P1,NAT8	c.465A>C (p.Lys155Asn) n.82T>G
2	g.73641164T=	CA1261057188	ALMS1P1,NAT8	c.465A= (p.Lys155=) n.82T=
2	g.73641165T>A	CA347287228	ALMS1P1,NAT8	c.464A>T (p.Lys155Ile) n.83T>A
2	g.73641165T>C	CA347287230	ALMS1P1,NAT8	c.464A>G (p.Lys155Arg) n.83T>C
2	g.73641165T>G	CA347287231	ALMS1P1,NAT8	c.464A>C (p.Lys155Thr) n.83T>G
2	g.73641166T>A	CA347287234	ALMS1P1,NAT8	c.463A>T (p.Lys155Ter) n.84T>A	gnomAD v4
2	g.73641166T>C	CA1715692	ALMS1P1,NAT8	c.463A>G (p.Lys155Glu) n.84T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641166T>G	CA347287236	ALMS1P1,NAT8	c.463A>C (p.Lys155Gln) n.84T>G
2	g.73641166T=	CA1261057189	ALMS1P1,NAT8	c.463A= (p.Lys155=) n.84T=
2	g.73641167T>A	CA427024465	ALMS1P1,NAT8	c.462A>T (p.Ala154=) n.85T>A	dbSNP gnomAD v3 gnomAD v4
2	g.73641167T>C	CA427024466	ALMS1P1,NAT8	c.462A>G (p.Ala154=) n.85T>C
2	g.73641167T>G	CA427024467	ALMS1P1,NAT8	c.462A>C (p.Ala154=) n.85T>G
2	g.73641167T=	CA1261057190	ALMS1P1,NAT8	c.462A= (p.Ala154=) n.85T=
2	g.73641168G>A	CA347287238	ALMS1P1,NAT8	c.461C>T (p.Ala154Val) n.86G>A
2	g.73641168G>C	CA347287240	ALMS1P1,NAT8	c.461C>G (p.Ala154Gly) n.86G>C	dbSNP gnomAD v3 gnomAD v4
2	g.73641168G=	CA1261057191	ALMS1P1,NAT8	c.461C= (p.Ala154=) n.86G=
2	g.73641168G>T	CA347287239	ALMS1P1,NAT8	c.461C>A (p.Ala154Glu) n.86G>T
2	g.73641169C>A	CA347287243	ALMS1P1,NAT8	c.460G>T (p.Ala154Ser) n.87C>A
2	g.73641169C>G	CA347287245	ALMS1P1,NAT8	c.460G>C (p.Ala154Pro) n.87C>G
2	g.73641169C>T	CA347287247	ALMS1P1,NAT8	c.460G>A (p.Ala154Thr) n.87C>T
2	g.73641170T>A	CA427024477	ALMS1P1,NAT8	c.459A>T (p.Ile153=) n.88T>A
2	g.73641170T>C	CA347287249	ALMS1P1,NAT8	c.459A>G (p.Ile153Met) n.88T>C	gnomAD v4
2	g.73641170T>G	CA427024475	ALMS1P1,NAT8	c.459A>C (p.Ile153=) n.88T>G
2	g.73641171A=	CA1261057192	ALMS1P1,NAT8	c.458T= (p.Ile153=) n.89A=
2	g.73641171A>C	CA347287251	ALMS1P1,NAT8	c.458T>G (p.Ile153Arg) n.89A>C
2	g.73641171A>G	CA1715693	ALMS1P1,NAT8	c.458T>C (p.Ile153Thr) n.89A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641171A>T	CA347287254	ALMS1P1,NAT8	c.458T>A (p.Ile153Lys) n.89A>T
2	g.73641172T>A	CA347287255	ALMS1P1,NAT8	c.457A>T (p.Ile153Leu) n.90T>A
2	g.73641172T>C	CA1715695	ALMS1P1,NAT8	c.457A>G (p.Ile153Val) n.90T>C	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641172T>G	CA1715694	ALMS1P1,NAT8	c.457A>C (p.Ile153Leu) n.90T>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641172T=	CA1261057193	ALMS1P1,NAT8	c.457A= (p.Ile153=) n.90T=
2	g.73641173C>A	CA1715696	ALMS1P1,NAT8	c.456G>T (p.Gly152=) n.91C>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641173C=	CA1261057194	ALMS1P1,NAT8	c.456G= (p.Gly152=) n.91C=
2	g.73641173C>G	CA427024479	ALMS1P1,NAT8	c.456G>C (p.Gly152=) n.91C>G
2	g.73641173C>T	CA427024483	ALMS1P1,NAT8	c.456G>A (p.Gly152=) n.91C>T	dbSNP gnomAD v4
2	g.73641174C>A	CA347287260	ALMS1P1,NAT8	c.455G>T (p.Gly152Val) n.92C>A
2	g.73641174C=	CA1261057195	ALMS1P1,NAT8	c.455G= (p.Gly152=) n.92C=
2	g.73641174C>G	CA347287262	ALMS1P1,NAT8	c.455G>C (p.Gly152Ala) n.92C>G
2	g.73641174C>T	CA347287259	ALMS1P1,NAT8	c.455G>A (p.Gly152Glu) n.92C>T	dbSNP
2	g.73641175C>A	CA347287265	ALMS1P1,NAT8	c.454G>T (p.Gly152Trp) n.93C>A
2	g.73641175C=	CA1261057196	ALMS1P1,NAT8	c.454G= (p.Gly152=) n.93C=
2	g.73641175C>G	CA347287264	ALMS1P1,NAT8	c.454G>C (p.Gly152Arg) n.93C>G	dbSNP gnomAD v2
2	g.73641175C>T	CA347287267	ALMS1P1,NAT8	c.454G>A (p.Gly152Arg) n.93C>T
2	g.73641176C>A	CA347287270	ALMS1P1,NAT8	c.453G>T (p.Gln151His) n.94C>A
2	g.73641176C=	CA1261057197	ALMS1P1,NAT8	c.453G= (p.Gln151=) n.94C=
2	g.73641176C>G	CA347287271	ALMS1P1,NAT8	c.453G>C (p.Gln151His) n.94C>G
2	g.73641176C>T	CA427024490	ALMS1P1,NAT8	c.453G>A (p.Gln151=) n.94C>T	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641177T>A	CA347287272	ALMS1P1,NAT8	c.452A>T (p.Gln151Leu) n.95T>A
2	g.73641177T>C	CA347287274	ALMS1P1,NAT8	c.452A>G (p.Gln151Arg) n.95T>C
2	g.73641177T>G	CA347287276	ALMS1P1,NAT8	c.452A>C (p.Gln151Pro) n.95T>G
2	g.73641178G>A	CA347287277	ALMS1P1,NAT8	c.451C>T (p.Gln151Ter) n.96G>A	dbSNP gnomAD v3 gnomAD v4
2	g.73641178G>C	CA347287279	ALMS1P1,NAT8	c.451C>G (p.Gln151Glu) n.96G>C
2	g.73641178G=	CA1261057198	ALMS1P1,NAT8	c.451C= (p.Gln151=) n.96G=
2	g.73641178G>T	CA347287280	ALMS1P1,NAT8	c.451C>A (p.Gln151Lys) n.96G>T
2	g.73641179A>C	CA427024496	ALMS1P1,NAT8	c.450T>G (p.Arg150=) n.97A>C
2	g.73641179A>G	CA427024497	ALMS1P1,NAT8	c.450T>C (p.Arg150=) n.97A>G
2	g.73641179A>T	CA427024498	ALMS1P1,NAT8	c.450T>A (p.Arg150=) n.97A>T
2	g.73641180C>A	CA347287281	ALMS1P1,NAT8	c.449G>T (p.Arg150Leu) n.98C>A
2	g.73641180C=	CA1261057199	ALMS1P1,NAT8	c.449G= (p.Arg150=) n.98C=
2	g.73641180C>G	CA347287283	ALMS1P1,NAT8	c.449G>C (p.Arg150Pro) n.98C>G	dbSNP gnomAD v2 gnomAD v4
2	g.73641180C>T	CA1715697	ALMS1P1,NAT8	c.449G>A (p.Arg150His) n.98C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641181G>A	CA1715699	ALMS1P1,NAT8	c.448C>T (p.Arg150Cys) n.99G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641181G>C	CA1715698	ALMS1P1,NAT8	c.448C>G (p.Arg150Gly) n.99G>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641181G=	CA1261057200	ALMS1P1,NAT8	c.448C= (p.Arg150=) n.99G=
2	g.73641181G>T	CA347287286	ALMS1P1,NAT8	c.448C>A (p.Arg150Ser) n.99G>T	dbSNP gnomAD v2 gnomAD v4
2	g.73641182A=	CA1261057201	ALMS1P1,NAT8	c.447T= (p.Arg149=) n.100A=
2	g.73641182A>C	CA427024501	ALMS1P1,NAT8	c.447T>G (p.Arg149=) n.100A>C
2	g.73641182A>G	CA1715700	ALMS1P1,NAT8	c.447T>C (p.Arg149=) n.100A>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641182A>T	CA427024507	ALMS1P1,NAT8	c.447T>A (p.Arg149=) n.100A>T
2	g.73641183C>A	CA347287291	ALMS1P1,NAT8	c.446G>T (p.Arg149Leu) n.101C>A
2	g.73641183C=	CA1261057202	ALMS1P1,NAT8	c.446G= (p.Arg149=) n.101C=
2	g.73641183C>G	CA347287293	ALMS1P1,NAT8	c.446G>C (p.Arg149Pro) n.101C>G
2	g.73641183C>T	CA1715701	ALMS1P1,NAT8	c.446G>A (p.Arg149His) n.101C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641184G>A	CA347287297	ALMS1P1,NAT8	c.445C>T (p.Arg149Cys) n.102G>A	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
2	g.73641184G>C	CA347287298	ALMS1P1,NAT8	c.445C>G (p.Arg149Gly) n.102G>C
2	g.73641184G=	CA1261057203	ALMS1P1,NAT8	c.445C= (p.Arg149=) n.102G=
2	g.73641184G>T	CA347287300	ALMS1P1,NAT8	c.445C>A (p.Arg149Ser) n.102G>T
2	g.73641185G>A	CA427024511	ALMS1P1,NAT8	c.444C>T (p.His148=) n.103G>A
2	g.73641185G>C	CA347287302	ALMS1P1,NAT8	c.444C>G (p.His148Gln) n.103G>C	gnomAD v4
2	g.73641185G>T	CA347287304	ALMS1P1,NAT8	c.444C>A (p.His148Gln) n.103G>T
2	g.73641186T>A	CA347287306	ALMS1P1,NAT8	c.443A>T (p.His148Leu) n.104T>A
2	g.73641186T>C	CA347287309	ALMS1P1,NAT8	c.443A>G (p.His148Arg) n.104T>C
2	g.73641186T>G	CA347287311	ALMS1P1,NAT8	c.443A>C (p.His148Pro) n.104T>G
2	g.73641187G>A	CA347287315	ALMS1P1,NAT8	c.442C>T (p.His148Tyr) n.105G>A
2	g.73641187G>C	CA347287317	ALMS1P1,NAT8	c.442C>G (p.His148Asp) n.105G>C
2	g.73641187G=	CA1261057204	ALMS1P1,NAT8	c.442C= (p.His148=) n.105G=
2	g.73641187G>T	CA347287314	ALMS1P1,NAT8	c.442C>A (p.His148Asn) n.105G>T	dbSNP gnomAD v2 gnomAD v4
2	g.73641188C>A	CA347287319	ALMS1P1,NAT8	c.441G>T (p.Glu147Asp) n.106C>A
2	g.73641188C>G	CA347287321	ALMS1P1,NAT8	c.441G>C (p.Glu147Asp) n.106C>G
2	g.73641188C>T	CA427024517	ALMS1P1,NAT8	c.441G>A (p.Glu147=) n.106C>T	gnomAD v4
2	g.73641189T>A	CA347287322	ALMS1P1,NAT8	c.440A>T (p.Glu147Val) n.107T>A
2	g.73641189T>C	CA347287324	ALMS1P1,NAT8	c.440A>G (p.Glu147Gly) n.107T>C
2	g.73641189T>G	CA347287326	ALMS1P1,NAT8	c.440A>C (p.Glu147Ala) n.107T>G
2	g.73641190C>A	CA347287327	ALMS1P1,NAT8	c.439G>T (p.Glu147Ter) n.108C>A
2	g.73641190C=	CA1261057205	ALMS1P1,NAT8	c.439G= (p.Glu147=) n.108C=
2	g.73641190C>G	CA347287329	ALMS1P1,NAT8	c.439G>C (p.Glu147Gln) n.108C>G	COSMIC
2	g.73641190C>T	CA1715702	ALMS1P1,NAT8	c.439G>A (p.Glu147Lys) n.108C>T	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641191A>C	CA347287332	ALMS1P1,NAT8	c.438T>G (p.Ser146Arg) n.109A>C
2	g.73641191A>G	CA427024524	ALMS1P1,NAT8	c.438T>C (p.Ser146=) n.109A>G	gnomAD v4
2	g.73641191A>T	CA347287335	ALMS1P1,NAT8	c.438T>A (p.Ser146Arg) n.109A>T
2	g.73641192C>A	CA347287337	ALMS1P1,NAT8	c.437G>T (p.Ser146Ile) n.110C>A
2	g.73641192C>G	CA347287338	ALMS1P1,NAT8	c.437G>C (p.Ser146Thr) n.110C>G
2	g.73641192C>T	CA347287339	ALMS1P1,NAT8	c.437G>A (p.Ser146Asn) n.110C>T	gnomAD v4
2	g.73641193T>A	CA347287342	ALMS1P1,NAT8	c.436A>T (p.Ser146Cys) n.111T>A
2	g.73641193T>C	CA347287341	ALMS1P1,NAT8	c.436A>G (p.Ser146Gly) n.111T>C
2	g.73641193T>G	CA1715703	ALMS1P1,NAT8	c.436A>C (p.Ser146Arg) n.111T>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641193T=	CA1261057206	ALMS1P1,NAT8	c.436A= (p.Ser146=) n.111T=
2	g.73641194G>A	CA427024531	ALMS1P1,NAT8	c.435C>T (p.Asp145=) n.112G>A	gnomAD v4
2	g.73641194G>C	CA347287344	ALMS1P1,NAT8	c.435C>G (p.Asp145Glu) n.112G>C
2	g.73641194G>T	CA347287345	ALMS1P1,NAT8	c.435C>A (p.Asp145Glu) n.112G>T
2	g.73641195T>A	CA347287348	ALMS1P1,NAT8	c.434A>T (p.Asp145Val) n.113T>A
2	g.73641195T>C	CA347287350	ALMS1P1,NAT8	c.434A>G (p.Asp145Gly) n.113T>C	dbSNP
2	g.73641195T>G	CA347287351	ALMS1P1,NAT8	c.434A>C (p.Asp145Ala) n.113T>G
2	g.73641195T=	CA1261057207	ALMS1P1,NAT8	c.434A= (p.Asp145=) n.113T=
2	g.73641196C>A	CA347287352	ALMS1P1,NAT8	c.433G>T (p.Asp145Tyr) n.114C>A
2	g.73641196C=	CA1261057208	ALMS1P1,NAT8	c.433G= (p.Asp145=) n.114C=
2	g.73641196C>G	CA347287354	ALMS1P1,NAT8	c.433G>C (p.Asp145His) n.114C>G
2	g.73641196C>T	CA1715704	ALMS1P1,NAT8	c.433G>A (p.Asp145Asn) n.114C>T	dbSNP ExAC gnomAD v4
2	g.73641197C>A	CA427024550	ALMS1P1,NAT8	c.432G>T (p.Val144=) n.115C>A
2	g.73641197C>G	CA427024552	ALMS1P1,NAT8	c.432G>C (p.Val144=) n.115C>G
2	g.73641197C>T	CA427024554	ALMS1P1,NAT8	c.432G>A (p.Val144=) n.115C>T	gnomAD v4
2	g.73641198A=	CA1261057209	ALMS1P1,NAT8	c.431T= (p.Val144=) n.116A=
2	g.73641198A>C	CA347287358	ALMS1P1,NAT8	c.431T>G (p.Val144Gly) n.116A>C	dbSNP
2	g.73641198A>G	CA347287359	ALMS1P1,NAT8	c.431T>C (p.Val144Ala) n.116A>G	dbSNP gnomAD v3 gnomAD v4 COSMIC
2	g.73641198A>T	CA347287361	ALMS1P1,NAT8	c.431T>A (p.Val144Glu) n.116A>T
2	g.73641199C>A	CA347287363	ALMS1P1,NAT8	c.430G>T (p.Val144Leu) n.117C>A
2	g.73641199C=	CA1261057210	ALMS1P1,NAT8	c.430G= (p.Val144=) n.117C=
2	g.73641199C>G	CA1715705	ALMS1P1,NAT8	c.430G>C (p.Val144Leu) n.117C>G	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641199C>T	CA347287366	ALMS1P1,NAT8	c.430G>A (p.Val144Met) n.117C>T
2	g.73641199_73641201delinsCAA	CA1261057211	ALMS1P1,NAT8	c.428_430delinsTTG (p.Phe143=) n.117_119delinsCAA

Number of alleles fetched