Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
2	g.73641043T>A	CA347286558	NAT8	c.586A>T (p.Thr196Ser)
2	g.73641043T>C	CA347286560	NAT8	c.586A>G (p.Thr196Ala)
2	g.73641043T>G	CA347286563	NAT8	c.586A>C (p.Thr196Pro)	gnomAD v4
2	g.73641044C>A	CA347286565	NAT8	c.585G>T (p.Lys195Asn)
2	g.73641044C=	CA1261057131	NAT8	c.585G= (p.Lys195=)
2	g.73641044C>G	CA347286568	NAT8	c.585G>C (p.Lys195Asn)	ClinVar COSMIC
2	g.73641044C>T	CA427024447	NAT8	c.585G>A (p.Lys195=)	dbSNP
2	g.73641045T>A	CA347286572	NAT8	c.584A>T (p.Lys195Met)
2	g.73641045T>C	CA347286575	NAT8	c.584A>G (p.Lys195Arg)
2	g.73641045T>G	CA347286579	NAT8	c.584A>C (p.Lys195Thr)	COSMIC
2	g.73641046T>A	CA347286586	NAT8	c.583A>T (p.Lys195Ter)
2	g.73641046T>C	CA347286589	NAT8	c.583A>G (p.Lys195Glu)	dbSNP gnomAD v2
2	g.73641046T>G	CA347286583	NAT8	c.583A>C (p.Lys195Gln)
2	g.73641046T=	CA1261057132	NAT8	c.583A= (p.Lys195=)
2	g.73641047C>A	CA347286592	NAT8	c.582G>T (p.Lys194Asn)
2	g.73641047C>G	CA347286596	NAT8	c.582G>C (p.Lys194Asn)	gnomAD v4
2	g.73641047C>T	CA427024453	NAT8	c.582G>A (p.Lys194=)
2	g.73641048T>A	CA347286599	NAT8	c.581A>T (p.Lys194Met)
2	g.73641048T>C	CA347286602	NAT8	c.581A>G (p.Lys194Arg)	gnomAD v4
2	g.73641048T>G	CA347286605	NAT8	c.581A>C (p.Lys194Thr)	ClinVar dbSNP gnomAD v2 gnomAD v4
2	g.73641048T=	CA1261057133	NAT8	c.581A= (p.Lys194=)
2	g.73641049T>A	CA347286615	NAT8	c.580A>T (p.Lys194Ter)
2	g.73641049T>C	CA347286608	NAT8	c.580A>G (p.Lys194Glu)	gnomAD v4
2	g.73641049T>G	CA347286612	NAT8	c.580A>C (p.Lys194Gln)
2	g.73641050G>A	CA427024459	NAT8	c.579C>T (p.Phe193=)
2	g.73641050G>C	CA347286618	NAT8	c.579C>G (p.Phe193Leu)
2	g.73641050G>T	CA347286620	NAT8	c.579C>A (p.Phe193Leu)
2	g.73641051A>C	CA347286627	NAT8	c.578T>G (p.Phe193Cys)
2	g.73641051A>G	CA347286628	NAT8	c.578T>C (p.Phe193Ser)
2	g.73641051A>T	CA347286630	NAT8	c.578T>A (p.Phe193Tyr)
2	g.73641052A>C	CA347286640	NAT8	c.577T>G (p.Phe193Val)
2	g.73641052A>G	CA347286638	NAT8	c.577T>C (p.Phe193Leu)
2	g.73641052A>T	CA347286635	NAT8	c.577T>A (p.Phe193Ile)
2	g.73641053G>A	CA427024468	NAT8	c.576C>T (p.Gly192=)
2	g.73641053G>C	CA427024470	NAT8	c.576C>G (p.Gly192=)
2	g.73641053G>T	CA427024472	NAT8	c.576C>A (p.Gly192=)
2	g.73641054C>A	CA347286645	NAT8	c.575G>T (p.Gly192Val)	dbSNP
2	g.73641054C=	CA1261057134	NAT8	c.575G= (p.Gly192=)
2	g.73641054C>G	CA347286647	NAT8	c.575G>C (p.Gly192Ala)	gnomAD v4
2	g.73641054C>T	CA347286650	NAT8	c.575G>A (p.Gly192Asp)
2	g.73641055C>A	CA347286655	NAT8	c.574G>T (p.Gly192Cys)
2	g.73641055C>G	CA347286658	NAT8	c.574G>C (p.Gly192Arg)
2	g.73641055C>T	CA347286661	NAT8	c.574G>A (p.Gly192Ser)
2	g.73641056C>A	CA347286664	NAT8	c.573G>T (p.Met191Ile)
2	g.73641056C>G	CA347286668	NAT8	c.573G>C (p.Met191Ile)
2	g.73641056C>T	CA347286671	NAT8	c.573G>A (p.Met191Ile)	gnomAD v4
2	g.73641057A=	CA1261057135	NAT8	c.572T= (p.Met191=)
2	g.73641057A>C	CA347286674	NAT8	c.572T>G (p.Met191Arg)	dbSNP gnomAD v3 gnomAD v4
2	g.73641057A>G	CA1715659	NAT8	c.572T>C (p.Met191Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641057A>T	CA347286679	NAT8	c.572T>A (p.Met191Lys)
2	g.73641058T>A	CA1715660	NAT8	c.571A>T (p.Met191Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641058T>C	CA347286689	NAT8	c.571A>G (p.Met191Val)
2	g.73641058T>G	CA347286683	NAT8	c.571A>C (p.Met191Leu)
2	g.73641058T=	CA1261057136	NAT8	c.571A= (p.Met191=)
2	g.73641059G>A	CA1715661	NAT8	c.570C>T (p.Ser190=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641059G>C	CA347286693	NAT8	c.570C>G (p.Ser190Arg)
2	g.73641059G=	CA1261057137	NAT8	c.570C= (p.Ser190=)
2	g.73641059G>T	CA1715662	NAT8	c.570C>A (p.Ser190Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641060C>A	CA347286698	NAT8	c.569G>T (p.Ser190Ile)
2	g.73641060C>G	CA347286702	NAT8	c.569G>C (p.Ser190Thr)
2	g.73641060C>T	CA347286705	NAT8	c.569G>A (p.Ser190Asn)
2	g.73641061T>A	CA347286708	NAT8	c.568A>T (p.Ser190Cys)
2	g.73641061T>C	CA347286713	NAT8	c.568A>G (p.Ser190Gly)
2	g.73641061T>G	CA347286710	NAT8	c.568A>C (p.Ser190Arg)
2	g.73641062C>A	CA347286716	NAT8	c.567G>T (p.Gln189His)
2	g.73641062C=	CA1261057138	NAT8	c.567G= (p.Gln189=)
2	g.73641062C>G	CA347286719	NAT8	c.567G>C (p.Gln189His)	gnomAD v4
2	g.73641062C>T	CA427024491	NAT8	c.567G>A (p.Gln189=)	dbSNP gnomAD v2 gnomAD v4
2	g.73641063T>A	CA347286722	NAT8	c.566A>T (p.Gln189Leu)
2	g.73641063T>C	CA347286725	NAT8	c.566A>G (p.Gln189Arg)
2	g.73641063T>G	CA347286728	NAT8	c.566A>C (p.Gln189Pro)
2	g.73641064G>A	CA347286733	NAT8	c.565C>T (p.Gln189Ter)	gnomAD v4
2	g.73641064G>C	CA347286735	NAT8	c.565C>G (p.Gln189Glu)	dbSNP gnomAD v3 gnomAD v4
2	g.73641064G=	CA1261057139	NAT8	c.565C= (p.Gln189=)
2	g.73641064G>T	CA347286731	NAT8	c.565C>A (p.Gln189Lys)
2	g.73641065G>A	CA427024499	NAT8	c.564C>T (p.Tyr188=)	gnomAD v4
2	g.73641065G>C	CA347286744	NAT8	c.564C>G (p.Tyr188Ter)
2	g.73641065G=	CA1261057140	NAT8	c.564C= (p.Tyr188=)
2	g.73641065G>T	CA347286746	NAT8	c.564C>A (p.Tyr188Ter)	dbSNP
2	g.73641066T>A	CA347286749	NAT8	c.563A>T (p.Tyr188Phe)
2	g.73641066T>C	CA347286758	NAT8	c.563A>G (p.Tyr188Cys)
2	g.73641066T>G	CA347286761	NAT8	c.563A>C (p.Tyr188Ser)
2	g.73641067A>C	CA347286766	NAT8	c.562T>G (p.Tyr188Asp)
2	g.73641067A>G	CA347286769	NAT8	c.562T>C (p.Tyr188His)
2	g.73641067A>T	CA347286772	NAT8	c.562T>A (p.Tyr188Asn)
2	g.73641068G>A	CA427024510	NAT8	c.561C>T (p.Leu187=)
2	g.73641068G>C	CA427024509	NAT8	c.561C>G (p.Leu187=)
2	g.73641068G=	CA1261057141	NAT8	c.561C= (p.Leu187=)
2	g.73641068G>T	CA427024505	NAT8	c.561C>A (p.Leu187=)	dbSNP gnomAD v2 gnomAD v4
2	g.73641069A>C	CA347286782	NAT8	c.560T>G (p.Leu187Arg)
2	g.73641069A>G	CA347286779	NAT8	c.560T>C (p.Leu187Pro)
2	g.73641069A>T	CA347286777	NAT8	c.560T>A (p.Leu187His)
2	g.73641070G>A	CA347286786	NAT8	c.559C>T (p.Leu187Phe)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641070G>C	CA1715663	NAT8	c.559C>G (p.Leu187Val)	dbSNP ExAC
2	g.73641070G=	CA1261057142	NAT8	c.559C= (p.Leu187=)
2	g.73641070G>T	CA347286791	NAT8	c.559C>A (p.Leu187Ile)
2	g.73641071G>A	CA427024513	NAT8	c.558C>T (p.Ala186=)
2	g.73641071G>C	CA427024514	NAT8	c.558C>G (p.Ala186=)
2	g.73641071G>T	CA427024516	NAT8	c.558C>A (p.Ala186=)
2	g.73641072G>A	CA347286793	NAT8	c.557C>T (p.Ala186Val)	gnomAD v4
2	g.73641072G>C	CA50371054	NAT8	c.557C>G (p.Ala186Gly)	dbSNP gnomAD v4
2	g.73641072G=	CA1261057143	NAT8	c.557C= (p.Ala186=)
2	g.73641072G>T	CA347286799	NAT8	c.557C>A (p.Ala186Asp)	gnomAD v4
2	g.73641073C>A	CA347286804	NAT8	c.556G>T (p.Ala186Ser)
2	g.73641073C>G	CA347286809	NAT8	c.556G>C (p.Ala186Pro)
2	g.73641073C>T	CA347286806	NAT8	c.556G>A (p.Ala186Thr)
2	g.73641074dup	CA892867186	NAT8	c.556dup (p.Ala186GlyfsTer?)	dbSNP
2	g.73641074C>A	CA347286812	NAT8	c.555G>T (p.Met185Ile)
2	g.73641074C=	CA1261057144	NAT8	c.555G= (p.Met185=)
2	g.73641074C>G	CA347286815	NAT8	c.555G>C (p.Met185Ile)
2	g.73641074C>T	CA1715664	NAT8	c.555G>A (p.Met185Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641075A>C	CA347286822	NAT8	c.554T>G (p.Met185Arg)
2	g.73641075A>G	CA347286824	NAT8	c.554T>C (p.Met185Thr)	gnomAD v4
2	g.73641075A>T	CA347286827	NAT8	c.554T>A (p.Met185Lys)
2	g.73641076T>A	CA347286831	NAT8	c.553A>T (p.Met185Leu)
2	g.73641076T>C	CA347286836	NAT8	c.553A>G (p.Met185Val)
2	g.73641076T>G	CA347286837	NAT8	c.553A>C (p.Met185Leu)
2	g.73641077A>C	CA427024525	NAT8	c.552T>G (p.Ala184=)
2	g.73641077A>G	CA427024526	NAT8	c.552T>C (p.Ala184=)	gnomAD v4
2	g.73641077A>T	CA427024529	NAT8	c.552T>A (p.Ala184=)
2	g.73641078G>A	CA347286842	NAT8	c.551C>T (p.Ala184Val)	COSMIC
2	g.73641078G>C	CA347286844	NAT8	c.551C>G (p.Ala184Gly)
2	g.73641078G>T	CA347286848	NAT8	c.551C>A (p.Ala184Asp)
2	g.73641079C>A	CA347286851	NAT8	c.550G>T (p.Ala184Ser)
2	g.73641079C=	CA1261057145	NAT8	c.550G= (p.Ala184=)
2	g.73641079C>G	CA1715665	NAT8	c.550G>C (p.Ala184Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641079C>T	CA347286854	NAT8	c.550G>A (p.Ala184Thr)	dbSNP gnomAD v4
2	g.73641079_73641081delinsCAG	CA1261057146	NAT8	c.548_550delinsCTG (p.Ser183=)
2	g.73641080A>C	CA427024535	NAT8	c.549T>G (p.Ser183=)
2	g.73641080A>G	CA427024537	NAT8	c.549T>C (p.Ser183=)
2	g.73641080A>T	CA427024536	NAT8	c.549T>A (p.Ser183=)
2	g.73641084_73641085del	CA914421980	NAT8	c.548_549del (p.Ser183CysfsTer?)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641080_73641081insCTAAATAAATATTTGTTTCATTTGGTGGTTGTTCTTATGCAACATTATCCTGGCACTAGAAAAAT	CA2659622947	NAT8	c.548_549insATTTTTCTAGTGCCAGGATAATGTTGCATAAGAACAACCACCAAATGAAACAAATATTTATTTAG (p.Ala184PhefsTer3)	gnomAD v4
2	g.73641081G>A	CA347286859	NAT8	c.548C>T (p.Ser183Phe)
2	g.73641081G>C	CA347286863	NAT8	c.548C>G (p.Ser183Cys)
2	g.73641081G>T	CA347286866	NAT8	c.548C>A (p.Ser183Tyr)
2	g.73641082A>C	CA347286869	NAT8	c.547T>G (p.Ser183Ala)
2	g.73641082A>G	CA347286872	NAT8	c.547T>C (p.Ser183Pro)
2	g.73641082A>T	CA347286875	NAT8	c.547T>A (p.Ser183Thr)
2	g.73641083G>A	CA427024544	ALMS1P1,NAT8	c.546C>T (p.Leu182=) n.1G>A
2	g.73641083G>C	CA50371094	ALMS1P1,NAT8	c.546C>G (p.Leu182=) n.1G>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641083G=	CA1261057147	ALMS1P1,NAT8	c.546C= (p.Leu182=) n.1G=
2	g.73641083G>T	CA427024545	ALMS1P1,NAT8	c.546C>A (p.Leu182=) n.1G>T
2	g.73641084A>C	CA347286879	ALMS1P1,NAT8	c.545T>G (p.Leu182Arg) n.2A>C
2	g.73641084A>G	CA347286883	ALMS1P1,NAT8	c.545T>C (p.Leu182Pro) n.2A>G
2	g.73641084A>T	CA347286886	ALMS1P1,NAT8	c.545T>A (p.Leu182His) n.2A>T
2	g.73641085G>A	CA347286891	ALMS1P1,NAT8	c.544C>T (p.Leu182Phe) n.3G>A	dbSNP gnomAD v2 gnomAD v4
2	g.73641085G>C	CA347286894	ALMS1P1,NAT8	c.544C>G (p.Leu182Val) n.3G>C	dbSNP gnomAD v3 gnomAD v4
2	g.73641085G=	CA1261057148	ALMS1P1,NAT8	c.544C= (p.Leu182=) n.3G=
2	g.73641085G>T	CA347286896	ALMS1P1,NAT8	c.544C>A (p.Leu182Ile) n.3G>T
2	g.73641086C>A	CA347286900	ALMS1P1,NAT8	c.543G>T (p.Gln181His) n.4C>A
2	g.73641086C>G	CA347286899	ALMS1P1,NAT8	c.543G>C (p.Gln181His) n.4C>G
2	g.73641086C>T	CA427024556	ALMS1P1,NAT8	c.543G>A (p.Gln181=) n.4C>T
2	g.73641087T>A	CA347286901	ALMS1P1,NAT8	c.542A>T (p.Gln181Leu) n.5T>A
2	g.73641087T>C	CA347286902	ALMS1P1,NAT8	c.542A>G (p.Gln181Arg) n.5T>C
2	g.73641087T>G	CA347286903	ALMS1P1,NAT8	c.542A>C (p.Gln181Pro) n.5T>G	gnomAD v4
2	g.73641088G>A	CA347286906	ALMS1P1,NAT8	c.541C>T (p.Gln181Ter) n.6G>A	gnomAD v4
2	g.73641088G>C	CA347286907	ALMS1P1,NAT8	c.541C>G (p.Gln181Glu) n.6G>C
2	g.73641088G>T	CA347286909	ALMS1P1,NAT8	c.541C>A (p.Gln181Lys) n.6G>T
2	g.73641089G>A	CA427024564	ALMS1P1,NAT8	c.540C>T (p.Ile180=) n.7G>A	gnomAD v4
2	g.73641089G>C	CA347286912	ALMS1P1,NAT8	c.540C>G (p.Ile180Met) n.7G>C	gnomAD v4
2	g.73641089G>T	CA427024563	ALMS1P1,NAT8	c.540C>A (p.Ile180=) n.7G>T
2	g.73641090A>C	CA347286916	ALMS1P1,NAT8	c.539T>G (p.Ile180Ser) n.8A>C
2	g.73641090A>G	CA347286919	ALMS1P1,NAT8	c.539T>C (p.Ile180Thr) n.8A>G
2	g.73641090A>T	CA347286921	ALMS1P1,NAT8	c.539T>A (p.Ile180Asn) n.8A>T	gnomAD v4
2	g.73641091T>A	CA347286923	ALMS1P1,NAT8	c.538A>T (p.Ile180Phe) n.9T>A
2	g.73641091T>C	CA347286925	ALMS1P1,NAT8	c.538A>G (p.Ile180Val) n.9T>C	gnomAD v4
2	g.73641091T>G	CA347286928	ALMS1P1,NAT8	c.538A>C (p.Ile180Leu) n.9T>G
2	g.73641092G>A	CA1715666	ALMS1P1,NAT8	c.537C>T (p.Thr179=) n.10G>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641092G>C	CA427024277	ALMS1P1,NAT8	c.537C>G (p.Thr179=) n.10G>C
2	g.73641092G=	CA1261057149	ALMS1P1,NAT8	c.537C= (p.Thr179=) n.10G=
2	g.73641092G>T	CA427024278	ALMS1P1,NAT8	c.537C>A (p.Thr179=) n.10G>T
2	g.73641093G>A	CA1715667	ALMS1P1,NAT8	c.536C>T (p.Thr179Ile) n.11G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641093G>C	CA347286932	ALMS1P1,NAT8	c.536C>G (p.Thr179Ser) n.11G>C
2	g.73641093G=	CA1261057150	ALMS1P1,NAT8	c.536C= (p.Thr179=) n.11G=
2	g.73641093G>T	CA50371112	ALMS1P1,NAT8	c.536C>A (p.Thr179Asn) n.11G>T	dbSNP gnomAD v4
2	g.73641094T>A	CA347286939	ALMS1P1,NAT8	c.535A>T (p.Thr179Ser) n.12T>A
2	g.73641094T>C	CA347286940	ALMS1P1,NAT8	c.535A>G (p.Thr179Ala) n.12T>C	dbSNP
2	g.73641094T>G	CA347286943	ALMS1P1,NAT8	c.535A>C (p.Thr179Pro) n.12T>G
2	g.73641094T=	CA1261057151	ALMS1P1,NAT8	c.535A= (p.Thr179=) n.12T=
2	g.73641095G>A	CA427024282	ALMS1P1,NAT8	c.534C>T (p.Gly178=) n.13G>A	gnomAD v4
2	g.73641095G>C	CA427024284	ALMS1P1,NAT8	c.534C>G (p.Gly178=) n.13G>C
2	g.73641095G>T	CA427024285	ALMS1P1,NAT8	c.534C>A (p.Gly178=) n.13G>T
2	g.73641096C>A	CA347286947	ALMS1P1,NAT8	c.533G>T (p.Gly178Val) n.14C>A
2	g.73641096C=	CA1261057152	ALMS1P1,NAT8	c.533G= (p.Gly178=) n.14C=
2	g.73641096C>G	CA347286951	ALMS1P1,NAT8	c.533G>C (p.Gly178Ala) n.14C>G
2	g.73641096C>T	CA1715668	ALMS1P1,NAT8	c.533G>A (p.Gly178Asp) n.14C>T	dbSNP ExAC gnomAD v2
2	g.73641097C>A	CA1715670	ALMS1P1,NAT8	c.532G>T (p.Gly178Cys) n.15C>A	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641097C=	CA1261057153	ALMS1P1,NAT8	c.532G= (p.Gly178=) n.15C=
2	g.73641097C>G	CA1715669	ALMS1P1,NAT8	c.532G>C (p.Gly178Arg) n.15C>G	dbSNP ExAC gnomAD v2 gnomAD v4
2	g.73641097C>T	CA50371141	ALMS1P1,NAT8	c.532G>A (p.Gly178Ser) n.15C>T	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641098G>A	CA1715671	ALMS1P1,NAT8	c.531C>T (p.Thr177=) n.16G>A	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2	g.73641098G>C	CA427024288	ALMS1P1,NAT8	c.531C>G (p.Thr177=) n.16G>C
2	g.73641098G=	CA1261057154	ALMS1P1,NAT8	c.531C= (p.Thr177=) n.16G=
2	g.73641098G>T	CA427024289	ALMS1P1,NAT8	c.531C>A (p.Thr177=) n.16G>T
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

Number of alleles fetched