Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045263_5045274delinsGGGCACCGAACT	CA2013431156	KCNA5	c.1116_1127delinsGGGCACCGAACT (p.Leu372=)
12	g.5045268_5045278del	CA2013431157	KCNA5	c.1121_1131del (p.Thr374ArgfsTer?)	dbSNP
12	g.5045270G>A	CA231868487	KCNA5	c.1123G>A (p.Glu375Lys)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045270G>C	CA383465826	KCNA5	c.1123G>C (p.Glu375Gln)
12	g.5045270G=	CA2013431160	KCNA5	c.1123G= (p.Glu375=)
12	g.5045270G>T	CA123122	KCNA5	c.1123G>T (p.Glu375Ter)	ClinVar dbSNP gnomAD v4
12	g.5045271A>C	CA383465827	KCNA5	c.1124A>C (p.Glu375Ala)
12	g.5045271A>G	CA383465829	KCNA5	c.1124A>G (p.Glu375Gly)
12	g.5045271A>T	CA383465828	KCNA5	c.1124A>T (p.Glu375Val)
12	g.5045272A=	CA2013431161	KCNA5	c.1125A= (p.Glu375=)
12	g.5045272A>C	CA383465830	KCNA5	c.1125A>C (p.Glu375Asp)
12	g.5045272A>G	CA478095438	KCNA5	c.1125A>G (p.Glu375=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045272A>T	CA383465831	KCNA5	c.1125A>T (p.Glu375Asp)
12	g.5045273C>A	CA383465832	KCNA5	c.1126C>A (p.Leu376Met)
12	g.5045273C=	CA2013431162	KCNA5	c.1126C= (p.Leu376=)
12	g.5045273C>G	CA383465833	KCNA5	c.1126C>G (p.Leu376Val)
12	g.5045273C>T	CA478095441	KCNA5	c.1126C>T (p.Leu376=)	dbSNP gnomAD v4
12	g.5045274T>A	CA383465834	KCNA5	c.1127T>A (p.Leu376Gln)
12	g.5045274T>C	CA383465835	KCNA5	c.1127T>C (p.Leu376Pro)
12	g.5045274T>G	CA383465836	KCNA5	c.1127T>G (p.Leu376Arg)
12	g.5045275G>A	CA478095447	KCNA5	c.1128G>A (p.Leu376=)
12	g.5045275G>C	CA478095446	KCNA5	c.1128G>C (p.Leu376=)
12	g.5045275G>T	CA478095445	KCNA5	c.1128G>T (p.Leu376=)
12	g.5045276G>A	CA383465837	KCNA5	c.1129G>A (p.Ala377Thr)
12	g.5045276G>C	CA383465838	KCNA5	c.1129G>C (p.Ala377Pro)
12	g.5045276G>T	CA383465839	KCNA5	c.1129G>T (p.Ala377Ser)
12	g.5045276_5045277insTG	CA2617209916	KCNA5	c.1129_1130insTG (p.Ala377ValfsTer?)	gnomAD v4
12	g.5045277C>A	CA383465842	KCNA5	c.1130C>A (p.Ala377Glu)	gnomAD v4
12	g.5045277C>G	CA383465841	KCNA5	c.1130C>G (p.Ala377Gly)
12	g.5045277C>T	CA383465840	KCNA5	c.1130C>T (p.Ala377Val)	gnomAD v4
12	g.5045278A>C	CA478095454	KCNA5	c.1131A>C (p.Ala377=)
12	g.5045278A>G	CA478095452	KCNA5	c.1131A>G (p.Ala377=)
12	g.5045278A>T	CA478095451	KCNA5	c.1131A>T (p.Ala377=)
12	g.5045279G>A	CA6399804	KCNA5	c.1132G>A (p.Glu378Lys)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045279G>C	CA383465843	KCNA5	c.1132G>C (p.Glu378Gln)
12	g.5045279G=	CA2013431163	KCNA5	c.1132G= (p.Glu378=)
12	g.5045279G>T	CA383465844	KCNA5	c.1132G>T (p.Glu378Ter)
12	g.5045279_5045280insC	CA2617209917	KCNA5	c.1132_1133insC (p.Glu378AlafsTer?)	gnomAD v4
12	g.5045280A=	CA2013431164	KCNA5	c.1133A= (p.Glu378=)
12	g.5045280A>C	CA383465845	KCNA5	c.1133A>C (p.Glu378Ala)
12	g.5045280A>G	CA6399805	KCNA5	c.1133A>G (p.Glu378Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045280A>T	CA383465846	KCNA5	c.1133A>T (p.Glu378Val)
12	g.5045281G>A	CA478095458	KCNA5	c.1134G>A (p.Glu378=)
12	g.5045281G>C	CA231868497	KCNA5	c.1134G>C (p.Glu378Asp)	dbSNP gnomAD v4
12	g.5045281G=	CA2013431165	KCNA5	c.1134G= (p.Glu378=)
12	g.5045281G>T	CA383465847	KCNA5	c.1134G>T (p.Glu378Asp)	COSMIC
12	g.5045282C>A	CA383465848	KCNA5	c.1135C>A (p.Gln379Lys)
12	g.5045282C>G	CA383465849	KCNA5	c.1135C>G (p.Gln379Glu)
12	g.5045282C>T	CA383465850	KCNA5	c.1135C>T (p.Gln379Ter)
12	g.5045283A>C	CA383465853	KCNA5	c.1136A>C (p.Gln379Pro)	ClinVar dbSNP
12	g.5045283A>G	CA383465852	KCNA5	c.1136A>G (p.Gln379Arg)
12	g.5045283A>T	CA383465851	KCNA5	c.1136A>T (p.Gln379Leu)	gnomAD v4
12	g.5045284G>A	CA478095461	KCNA5	c.1137G>A (p.Gln379=)	gnomAD v4
12	g.5045284G>C	CA383465854	KCNA5	c.1137G>C (p.Gln379His)
12	g.5045284G>T	CA383465855	KCNA5	c.1137G>T (p.Gln379His)
12	g.5045284_5045285insGAGCAGCAAC	CA2617209918	KCNA5	c.1137_1138insGAGCAGCAAC (p.Gln380GlufsTer?)	gnomAD v4
12	g.5045285C>A	CA383465856	KCNA5	c.1138C>A (p.Gln380Lys)
12	g.5045285C=	CA2013431166	KCNA5	c.1138C= (p.Gln380=)
12	g.5045285C>G	CA383465857	KCNA5	c.1138C>G (p.Gln380Glu)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045285C>T	CA383465858	KCNA5	c.1138C>T (p.Gln380Ter)	gnomAD v4
12	g.5045286A>C	CA383465859	KCNA5	c.1139A>C (p.Gln380Pro)
12	g.5045286A>G	CA383465860	KCNA5	c.1139A>G (p.Gln380Arg)	gnomAD v3 gnomAD v4
12	g.5045286A>T	CA383465861	KCNA5	c.1139A>T (p.Gln380Leu)
12	g.5045287G>A	CA478095463	KCNA5	c.1140G>A (p.Gln380=)
12	g.5045287G>C	CA383465862	KCNA5	c.1140G>C (p.Gln380His)
12	g.5045287G>T	CA383465863	KCNA5	c.1140G>T (p.Gln380His)
12	g.5045288C>A	CA6399806	KCNA5	c.1141C>A (p.Pro381Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045288C=	CA2013431167	KCNA5	c.1141C= (p.Pro381=)
12	g.5045288C>G	CA383465864	KCNA5	c.1141C>G (p.Pro381Ala)
12	g.5045288C>T	CA383465865	KCNA5	c.1141C>T (p.Pro381Ser)
12	g.5045289del	CA2536874425	KCNA5	c.1142del (p.Pro381GlnfsTer?)
12	g.5045289C>A	CA383465866	KCNA5	c.1142C>A (p.Pro381Gln)
12	g.5045289C>G	CA383465868	KCNA5	c.1142C>G (p.Pro381Arg)
12	g.5045289C>T	CA383465867	KCNA5	c.1142C>T (p.Pro381Leu)
12	g.5045289_5045290delinsCA	CA2013431168	KCNA5	c.1142_1143delinsCA (p.Pro381=)
12	g.5045290del	CA6399807	KCNA5	c.1143del (p.Gly383ValfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045290A=	CA2013431169	KCNA5	c.1143A= (p.Pro381=)
12	g.5045290A>C	CA478095466	KCNA5	c.1143A>C (p.Pro381=)
12	g.5045290A>G	CA478095467	KCNA5	c.1143A>G (p.Pro381=)
12	g.5045290A>T	CA478095465	KCNA5	c.1143A>T (p.Pro381=)
12	g.5045291G>A	CA383465869	KCNA5	c.1144G>A (p.Gly382Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045291G>C	CA383465870	KCNA5	c.1144G>C (p.Gly382Arg)
12	g.5045291G=	CA2013431170	KCNA5	c.1144G= (p.Gly382=)
12	g.5045291G>T	CA383465871	KCNA5	c.1144G>T (p.Gly382Trp)
12	g.5045295dup	CA944256293	KCNA5	c.1148dup (p.Gly384TrpfsTer?)	dbSNP gnomAD v3 gnomAD v4
12	g.5045294_5045295del	CA2617209919	KCNA5	c.1147_1148del (p.Gly383TrpfsTer?)	gnomAD v4
12	g.5045292_5045295del	CA2617209920	KCNA5	c.1145_1148del (p.Gly382ValfsTer?)	gnomAD v4
12	g.5045291_5045292insCC	CA2506265817	KCNA5	c.1144_1145insCC (p.Gly382AlafsTer?)
12	g.5045292G>A	CA383465872	KCNA5	c.1145G>A (p.Gly382Glu)	dbSNP gnomAD v4
12	g.5045292G>C	CA383465873	KCNA5	c.1145G>C (p.Gly382Ala)
12	g.5045292G=	CA2013431171	KCNA5	c.1145G= (p.Gly382=)
12	g.5045292G>T	CA383465874	KCNA5	c.1145G>T (p.Gly382Val)	gnomAD v4
12	g.5045293G>A	CA478095470	KCNA5	c.1146G>A (p.Gly382=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045293G>C	CA478095473	KCNA5	c.1146G>C (p.Gly382=)
12	g.5045293G=	CA2013431172	KCNA5	c.1146G= (p.Gly382=)
12	g.5045293G>T	CA478095474	KCNA5	c.1146G>T (p.Gly382=)	gnomAD v4
12	g.5045294G>A	CA231868538	KCNA5	c.1147G>A (p.Gly383Ser)	dbSNP gnomAD v4
12	g.5045294G>C	CA383465875	KCNA5	c.1147G>C (p.Gly383Arg)
12	g.5045294G=	CA2013431173	KCNA5	c.1147G= (p.Gly383=)
12	g.5045294G>T	CA383465876	KCNA5	c.1147G>T (p.Gly383Cys)
12	g.5045295G>A	CA6399808	KCNA5	c.1148G>A (p.Gly383Asp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045295G>C	CA383465878	KCNA5	c.1148G>C (p.Gly383Ala)
12	g.5045295G=	CA2013431174	KCNA5	c.1148G= (p.Gly383=)
12	g.5045295G>T	CA383465877	KCNA5	c.1148G>T (p.Gly383Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5045295_5045296delinsAC	CA2499221725	KCNA5	c.1148_1149delinsAC (p.Gly383Asp)	ClinVar
12	g.5045296del	CA2517155228	KCNA5	c.1149del (p.Gly384GlufsTer?)
12	g.5045296T>A	CA478095481	KCNA5	c.1149T>A (p.Gly383=)	dbSNP
12	g.5045296T>C	CA6399809	KCNA5	c.1149T>C (p.Gly383=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045296T>G	CA6399810	KCNA5	c.1149T>G (p.Gly383=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045296T=	CA2013431175	KCNA5	c.1149T= (p.Gly383=)
12	g.5045296_5045297delinsCA	CA658658115	KCNA5	c.1149_1150delinsCA (p.Gly384Arg)	ClinVar
12	g.5045296_5045297insC	CA2617209921	KCNA5	c.1149_1150insC (p.Gly384ArgfsTer?)	gnomAD v4
12	g.5045297G>A	CA199949	KCNA5	c.1150G>A (p.Gly384Arg)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045297G>C	CA383465879	KCNA5	c.1150G>C (p.Gly384Arg)
12	g.5045297G=	CA2013431176	KCNA5	c.1150G= (p.Gly384=)
12	g.5045297G>T	CA383465880	KCNA5	c.1150G>T (p.Gly384Ter)
12	g.5045298_5045299insGGG	CA2520099665	KCNA5	c.1151_1152insGGG (p.Gly384_Gly385insGly)
12	g.5045298G>A	CA383465881	KCNA5	c.1151G>A (p.Gly384Glu)
12	g.5045298G>C	CA383465882	KCNA5	c.1151G>C (p.Gly384Ala)
12	g.5045298G>T	CA383465883	KCNA5	c.1151G>T (p.Gly384Val)
12	g.5045299A=	CA2013431177	KCNA5	c.1152A= (p.Gly384=)
12	g.5045299A>C	CA478095488	KCNA5	c.1152A>C (p.Gly384=)
12	g.5045299A>G	CA6399811	KCNA5	c.1152A>G (p.Gly384=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045299A>T	CA478095489	KCNA5	c.1152A>T (p.Gly384=)	gnomAD v4
12	g.5045300G>A	CA383465884	KCNA5	c.1153G>A (p.Gly385Arg)
12	g.5045300G>C	CA383465885	KCNA5	c.1153G>C (p.Gly385Arg)	ClinVar dbSNP gnomAD v4
12	g.5045300G=	CA2013431178	KCNA5	c.1153G= (p.Gly385=)
12	g.5045300G>T	CA383465886	KCNA5	c.1153G>T (p.Gly385Ter)
12	g.5045301G>A	CA383465889	KCNA5	c.1154G>A (p.Gly385Glu)	ClinVar dbSNP gnomAD v4 COSMIC
12	g.5045301G>C	CA383465888	KCNA5	c.1154G>C (p.Gly385Ala)
12	g.5045301G=	CA2013431179	KCNA5	c.1154G= (p.Gly385=)
12	g.5045301G>T	CA383465887	KCNA5	c.1154G>T (p.Gly385Val)
12	g.5045302A>C	CA478095493	KCNA5	c.1155A>C (p.Gly385=)
12	g.5045302A>G	CA478095494	KCNA5	c.1155A>G (p.Gly385=)	gnomAD v4
12	g.5045302A>T	CA478095495	KCNA5	c.1155A>T (p.Gly385=)
12	g.5045303G>A	CA6399812	KCNA5	c.1156G>A (p.Gly386Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045303G>C	CA383465890	KCNA5	c.1156G>C (p.Gly386Arg)
12	g.5045303G=	CA2013431180	KCNA5	c.1156G= (p.Gly386=)
12	g.5045303G>T	CA383465891	KCNA5	c.1156G>T (p.Gly386Cys)
12	g.5045303_5045308del	CA2575052196	KCNA5	c.1156_1161del (p.Gly386_Gly387del)
12	g.5045304G>A	CA383465892	KCNA5	c.1157G>A (p.Gly386Asp)
12	g.5045304G>C	CA383465893	KCNA5	c.1157G>C (p.Gly386Ala)
12	g.5045304G>T	CA383465894	KCNA5	c.1157G>T (p.Gly386Val)	gnomAD v4
12	g.5045305C>A	CA478095503	KCNA5	c.1158C>A (p.Gly386=)
12	g.5045305C>G	CA478095502	KCNA5	c.1158C>G (p.Gly386=)
12	g.5045305C>T	CA478095500	KCNA5	c.1158C>T (p.Gly386=)	gnomAD v4 COSMIC
12	g.5045306G>A	CA6399813	KCNA5	c.1159G>A (p.Gly387Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045306G>C	CA383465895	KCNA5	c.1159G>C (p.Gly387Arg)
12	g.5045306G=	CA2013431181	KCNA5	c.1159G= (p.Gly387=)
12	g.5045306G>T	CA383465896	KCNA5	c.1159G>T (p.Gly387Cys)
12	g.5045307G>A	CA383465897	KCNA5	c.1160G>A (p.Gly387Asp)	dbSNP gnomAD v2
12	g.5045307G>C	CA383465898	KCNA5	c.1160G>C (p.Gly387Ala)
12	g.5045307G=	CA2013431182	KCNA5	c.1160G= (p.Gly387=)
12	g.5045307G>T	CA383465899	KCNA5	c.1160G>T (p.Gly387Val)
12	g.5045308C>A	CA478095506	KCNA5	c.1161C>A (p.Gly387=)
12	g.5045308C=	CA2013431183	KCNA5	c.1161C= (p.Gly387=)
12	g.5045308C>G	CA478095507	KCNA5	c.1161C>G (p.Gly387=)
12	g.5045308C>T	CA231868597	KCNA5	c.1161C>T (p.Gly387=)	dbSNP COSMIC
12	g.5045309C>A	CA383465901	KCNA5	c.1162C>A (p.Gln388Lys)
12	g.5045309C=	CA2013431184	KCNA5	c.1162C= (p.Gln388=)
12	g.5045309C>G	CA383465902	KCNA5	c.1162C>G (p.Gln388Glu)
12	g.5045309C>T	CA383465900	KCNA5	c.1162C>T (p.Gln388Ter)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045310A=	CA2013431185	KCNA5	c.1163A= (p.Gln388=)
12	g.5045310A>C	CA383465903	KCNA5	c.1163A>C (p.Gln388Pro)
12	g.5045310A>G	CA383465904	KCNA5	c.1163A>G (p.Gln388Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045310A>T	CA383465905	KCNA5	c.1163A>T (p.Gln388Leu)
12	g.5045311G>A	CA478095514	KCNA5	c.1164G>A (p.Gln388=)
12	g.5045311G>C	CA383465906	KCNA5	c.1164G>C (p.Gln388His)
12	g.5045311G>T	CA383465907	KCNA5	c.1164G>T (p.Gln388His)
12	g.5045312A>C	CA383465908	KCNA5	c.1165A>C (p.Asn389His)
12	g.5045312A>G	CA383465909	KCNA5	c.1165A>G (p.Asn389Asp)
12	g.5045312A>T	CA383465910	KCNA5	c.1165A>T (p.Asn389Tyr)
12	g.5045313A>C	CA383465911	KCNA5	c.1166A>C (p.Asn389Thr)
12	g.5045313A>G	CA383465912	KCNA5	c.1166A>G (p.Asn389Ser)
12	g.5045313A>T	CA383465913	KCNA5	c.1166A>T (p.Asn389Ile)
12	g.5045314T>A	CA383465914	KCNA5	c.1167T>A (p.Asn389Lys)
12	g.5045314T>C	CA478095521	KCNA5	c.1167T>C (p.Asn389=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045314T>G	CA383465915	KCNA5	c.1167T>G (p.Asn389Lys)
12	g.5045314T=	CA2013431186	KCNA5	c.1167T= (p.Asn389=)
12	g.5045314_5045320del	CA2617209922	KCNA5	c.1167_1173del (p.Gly390ArgfsTer?)	gnomAD v4
12	g.5045315G>A	CA383465918	KCNA5	c.1168G>A (p.Gly390Arg)	COSMIC
12	g.5045315G>C	CA383465917	KCNA5	c.1168G>C (p.Gly390Arg)	gnomAD v4
12	g.5045315G>T	CA383465916	KCNA5	c.1168G>T (p.Gly390Trp)
12	g.5045316G>A	CA383465919	KCNA5	c.1169G>A (p.Gly390Glu)
12	g.5045316G>C	CA383465920	KCNA5	c.1169G>C (p.Gly390Ala)
12	g.5045316G>T	CA383465921	KCNA5	c.1169G>T (p.Gly390Val)
12	g.5045317_5045355del	CA2617209923	KCNA5	c.1170_1208del (p.Gln391_Arg403del)	gnomAD v4
12	g.5045317G>A	CA6399814	KCNA5	c.1170G>A (p.Gly390=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045317G>C	CA478095529	KCNA5	c.1170G>C (p.Gly390=)
12	g.5045317G=	CA2013431187	KCNA5	c.1170G= (p.Gly390=)
12	g.5045317G>T	CA6399815	KCNA5	c.1170G>T (p.Gly390=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045318C>A	CA383465922	KCNA5	c.1171C>A (p.Gln391Lys)
12	g.5045318C>G	CA383465923	KCNA5	c.1171C>G (p.Gln391Glu)
12	g.5045318C>T	CA383465924	KCNA5	c.1171C>T (p.Gln391Ter)	gnomAD v4
12	g.5045319A>C	CA383465925	KCNA5	c.1172A>C (p.Gln391Pro)
12	g.5045319A>G	CA383465926	KCNA5	c.1172A>G (p.Gln391Arg)
12	g.5045319A>T	CA383465927	KCNA5	c.1172A>T (p.Gln391Leu)
12	g.5045320G>A	CA478095538	KCNA5	c.1173G>A (p.Gln391=)
12	g.5045320G>C	CA383465928	KCNA5	c.1173G>C (p.Gln391His)
12	g.5045320G>T	CA383465929	KCNA5	c.1173G>T (p.Gln391His)
12	g.5045321C>A	CA383465931	KCNA5	c.1174C>A (p.Gln392Lys)
12	g.5045321C>G	CA383465932	KCNA5	c.1174C>G (p.Gln392Glu)
12	g.5045321C>T	CA383465930	KCNA5	c.1174C>T (p.Gln392Ter)
12	g.5045322A>C	CA383465933	KCNA5	c.1175A>C (p.Gln392Pro)
12	g.5045322A>G	CA383465934	KCNA5	c.1175A>G (p.Gln392Arg)
12	g.5045322A>T	CA383465935	KCNA5	c.1175A>T (p.Gln392Leu)
12	g.5045323G>A	CA478095541	KCNA5	c.1176G>A (p.Gln392=)
12	g.5045323G>C	CA383465936	KCNA5	c.1176G>C (p.Gln392His)	gnomAD v4
12	g.5045323G>T	CA383465937	KCNA5	c.1176G>T (p.Gln392His)	gnomAD v4
12	g.5045324G>A	CA383465938	KCNA5	c.1177G>A (p.Ala393Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045324G>C	CA383465939	KCNA5	c.1177G>C (p.Ala393Pro)
12	g.5045324G=	CA2013431188	KCNA5	c.1177G= (p.Ala393=)
12	g.5045324G>T	CA383465940	KCNA5	c.1177G>T (p.Ala393Ser)
12	g.5045325C>A	CA383465941	KCNA5	c.1178C>A (p.Ala393Asp)
12	g.5045325C>G	CA383465942	KCNA5	c.1178C>G (p.Ala393Gly)	gnomAD v4
12	g.5045325C>T	CA383465943	KCNA5	c.1178C>T (p.Ala393Val)
12	g.5045326del	CA2617209924	KCNA5	c.1179del (p.Met394CysfsTer?)	gnomAD v4
12	g.5045326C>A	CA478095550	KCNA5	c.1179C>A (p.Ala393=)
12	g.5045326C=	CA2013431189	KCNA5	c.1179C= (p.Ala393=)
12	g.5045326C>G	CA6399816	KCNA5	c.1179C>G (p.Ala393=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045326C>T	CA478095546	KCNA5	c.1179C>T (p.Ala393=)
12	g.5045327A>C	CA383465946	KCNA5	c.1180A>C (p.Met394Leu)
12	g.5045327A>G	CA383465945	KCNA5	c.1180A>G (p.Met394Val)	gnomAD v4
12	g.5045327A>T	CA383465944	KCNA5	c.1180A>T (p.Met394Leu)
12	g.5045328T>A	CA383465947	KCNA5	c.1181T>A (p.Met394Lys)
12	g.5045328T>C	CA231868603	KCNA5	c.1181T>C (p.Met394Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045328T>G	CA383465948	KCNA5	c.1181T>G (p.Met394Arg)
12	g.5045328T=	CA2013431190	KCNA5	c.1181T= (p.Met394=)
12	g.5045329G>A	CA383465949	KCNA5	c.1182G>A (p.Met394Ile)
12	g.5045329G>C	CA383465950	KCNA5	c.1182G>C (p.Met394Ile)
12	g.5045329G>T	CA383465951	KCNA5	c.1182G>T (p.Met394Ile)
12	g.5045330T>A	CA383465952	KCNA5	c.1183T>A (p.Ser395Thr)
12	g.5045330T>C	CA383465953	KCNA5	c.1183T>C (p.Ser395Pro)
12	g.5045330T>G	CA383465954	KCNA5	c.1183T>G (p.Ser395Ala)
12	g.5045331C>A	CA383465955	KCNA5	c.1184C>A (p.Ser395Tyr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045331C=	CA2013431191	KCNA5	c.1184C= (p.Ser395=)
12	g.5045331C>G	CA383465956	KCNA5	c.1184C>G (p.Ser395Cys)
12	g.5045331C>T	CA6399817	KCNA5	c.1184C>T (p.Ser395Phe)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045332C>A	CA478095560	KCNA5	c.1185C>A (p.Ser395=)	COSMIC
12	g.5045332C>G	CA478095562	KCNA5	c.1185C>G (p.Ser395=)
12	g.5045332C>T	CA478095561	KCNA5	c.1185C>T (p.Ser395=)	gnomAD v4 COSMIC
12	g.5045333C>A	CA383465957	KCNA5	c.1186C>A (p.Leu396Met)
12	g.5045333C>G	CA383465958	KCNA5	c.1186C>G (p.Leu396Val)
12	g.5045333C>T	CA478095565	KCNA5	c.1186C>T (p.Leu396=)
12	g.5045334T>A	CA383465961	KCNA5	c.1187T>A (p.Leu396Gln)
12	g.5045334T>C	CA383465960	KCNA5	c.1187T>C (p.Leu396Pro)
12	g.5045334T>G	CA383465959	KCNA5	c.1187T>G (p.Leu396Arg)
12	g.5045335G>A	CA478095566	KCNA5	c.1188G>A (p.Leu396=)
12	g.5045335G>C	CA478095568	KCNA5	c.1188G>C (p.Leu396=)
12	g.5045335G>T	CA478095570	KCNA5	c.1188G>T (p.Leu396=)
12	g.5045336G>A	CA383465962	KCNA5	c.1189G>A (p.Ala397Thr)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045336G>C	CA383465963	KCNA5	c.1189G>C (p.Ala397Pro)	gnomAD v4
12	g.5045336G=	CA2013431192	KCNA5	c.1189G= (p.Ala397=)
12	g.5045336G>T	CA383465964	KCNA5	c.1189G>T (p.Ala397Ser)
12	g.5045337C>A	CA383465965	KCNA5	c.1190C>A (p.Ala397Asp)
12	g.5045337C=	CA2013431193	KCNA5	c.1190C= (p.Ala397=)
12	g.5045337C>G	CA383465966	KCNA5	c.1190C>G (p.Ala397Gly)
12	g.5045337C>T	CA6399818	KCNA5	c.1190C>T (p.Ala397Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045338C>A	CA6399819	KCNA5	c.1191C>A (p.Ala397=)	dbSNP ExAC gnomAD v2 COSMIC
12	g.5045338C=	CA2013431194	KCNA5	c.1191C= (p.Ala397=)
12	g.5045338C>G	CA478095575	KCNA5	c.1191C>G (p.Ala397=)
12	g.5045338C>T	CA478095576	KCNA5	c.1191C>T (p.Ala397=)
12	g.5045339A=	CA2013431195	KCNA5	c.1192A= (p.Ile398=)
12	g.5045339A>C	CA383465967	KCNA5	c.1192A>C (p.Ile398Leu)
12	g.5045339A>G	CA383465969	KCNA5	c.1192A>G (p.Ile398Val)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045339A>T	CA383465968	KCNA5	c.1192A>T (p.Ile398Phe)
12	g.5045340T>A	CA383465970	KCNA5	c.1193T>A (p.Ile398Asn)
12	g.5045340T>C	CA383465971	KCNA5	c.1193T>C (p.Ile398Thr)
12	g.5045340T>G	CA383465972	KCNA5	c.1193T>G (p.Ile398Ser)
12	g.5045341C>A	CA478095579	KCNA5	c.1194C>A (p.Ile398=)	COSMIC
12	g.5045341C>G	CA383465973	KCNA5	c.1194C>G (p.Ile398Met)
12	g.5045341C>T	CA478095580	KCNA5	c.1194C>T (p.Ile398=)
12	g.5045342C>A	CA383465975	KCNA5	c.1195C>A (p.Leu399Ile)
12	g.5045342C=	CA2013431196	KCNA5	c.1195C= (p.Leu399=)
12	g.5045342C>G	CA383465974	KCNA5	c.1195C>G (p.Leu399Val)
12	g.5045342C>T	CA231868628	KCNA5	c.1195C>T (p.Leu399Phe)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045343T>A	CA383465976	KCNA5	c.1196T>A (p.Leu399His)
12	g.5045343T>C	CA383465977	KCNA5	c.1196T>C (p.Leu399Pro)
12	g.5045343T>G	CA383465978	KCNA5	c.1196T>G (p.Leu399Arg)
12	g.5045344C>A	CA478095582	KCNA5	c.1197C>A (p.Leu399=)
12	g.5045344C>G	CA478095583	KCNA5	c.1197C>G (p.Leu399=)
12	g.5045344C>T	CA478095584	KCNA5	c.1197C>T (p.Leu399=)
12	g.5045345C>A	CA6399821	KCNA5	c.1198C>A (p.Arg400=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045345C=	CA2013431197	KCNA5	c.1198C= (p.Arg400=)
12	g.5045345C>G	CA383465979	KCNA5	c.1198C>G (p.Arg400Gly)	ClinVar dbSNP
12	g.5045345C>T	CA6399820	KCNA5	c.1198C>T (p.Arg400Ter)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045346del	CA2575052197	KCNA5	c.1199del (p.Arg400GlnfsTer?)
12	g.5045346G>A	CA231868638	KCNA5	c.1199G>A (p.Arg400Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045346G>C	CA383465980	KCNA5	c.1199G>C (p.Arg400Pro)
12	g.5045346G=	CA2013431198	KCNA5	c.1199G= (p.Arg400=)
12	g.5045346G>T	CA383465981	KCNA5	c.1199G>T (p.Arg400Leu)	gnomAD v4
12	g.5045347A>C	CA478095590	KCNA5	c.1200A>C (p.Arg400=)
12	g.5045347A>G	CA478095592	KCNA5	c.1200A>G (p.Arg400=)
12	g.5045347A>T	CA478095594	KCNA5	c.1200A>T (p.Arg400=)
12	g.5045348G>A	CA383465982	KCNA5	c.1201G>A (p.Val401Ile)	gnomAD v4
12	g.5045348G>C	CA383465983	KCNA5	c.1201G>C (p.Val401Leu)
12	g.5045348G>T	CA383465984	KCNA5	c.1201G>T (p.Val401Phe)
12	g.5045349T>A	CA383465985	KCNA5	c.1202T>A (p.Val401Asp)
12	g.5045349T>C	CA383465987	KCNA5	c.1202T>C (p.Val401Ala)
12	g.5045349T>G	CA383465986	KCNA5	c.1202T>G (p.Val401Gly)
12	g.5045350C>A	CA478095598	KCNA5	c.1203C>A (p.Val401=)
12	g.5045350C>G	CA478095599	KCNA5	c.1203C>G (p.Val401=)
12	g.5045350C>T	CA478095600	KCNA5	c.1203C>T (p.Val401=)
12	g.5045351A=	CA2013431199	KCNA5	c.1204A= (p.Ile402=)
12	g.5045351A>C	CA383465988	KCNA5	c.1204A>C (p.Ile402Leu)
12	g.5045351A>G	CA383465989	KCNA5	c.1204A>G (p.Ile402Val)	gnomAD v4
12	g.5045351A>T	CA6399822	KCNA5	c.1204A>T (p.Ile402Phe)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045352T>A	CA383465990	KCNA5	c.1205T>A (p.Ile402Asn)
12	g.5045352T>C	CA383465991	KCNA5	c.1205T>C (p.Ile402Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045352T>G	CA383465992	KCNA5	c.1205T>G (p.Ile402Ser)	gnomAD v4
12	g.5045352T=	CA2013431200	KCNA5	c.1205T= (p.Ile402=)
12	g.5045353C>A	CA478095602	KCNA5	c.1206C>A (p.Ile402=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045353C=	CA2013431201	KCNA5	c.1206C= (p.Ile402=)
12	g.5045353C>G	CA383465993	KCNA5	c.1206C>G (p.Ile402Met)
12	g.5045353C>T	CA478095603	KCNA5	c.1206C>T (p.Ile402=)
12	g.5045354C>A	CA383465994	KCNA5	c.1207C>A (p.Arg403Ser)
12	g.5045354C=	CA2013431202	KCNA5	c.1207C= (p.Arg403=)
12	g.5045354C>G	CA383465995	KCNA5	c.1207C>G (p.Arg403Gly)
12	g.5045354C>T	CA383465996	KCNA5	c.1207C>T (p.Arg403Cys)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045355G>A	CA383465997	KCNA5	c.1208G>A (p.Arg403His)	gnomAD v4
12	g.5045355G>C	CA383465998	KCNA5	c.1208G>C (p.Arg403Pro)
12	g.5045355G=	CA2013431203	KCNA5	c.1208G= (p.Arg403=)
12	g.5045355G>T	CA6399823	KCNA5	c.1208G>T (p.Arg403Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045356C>A	CA478095610	KCNA5	c.1209C>A (p.Arg403=)
12	g.5045356C>G	CA478095611	KCNA5	c.1209C>G (p.Arg403=)
12	g.5045356C>T	CA478095612	KCNA5	c.1209C>T (p.Arg403=)
12	g.5045357C>A	CA383466000	KCNA5	c.1210C>A (p.Leu404Met)
12	g.5045357C=	CA2013431204	KCNA5	c.1210C= (p.Leu404=)
12	g.5045357C>G	CA383465999	KCNA5	c.1210C>G (p.Leu404Val)	ClinVar dbSNP
12	g.5045357C>T	CA10642610	KCNA5	c.1210C>T (p.Leu404=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045358T>A	CA383466001	KCNA5	c.1211T>A (p.Leu404Gln)	COSMIC
12	g.5045358T>C	CA383466002	KCNA5	c.1211T>C (p.Leu404Pro)
12	g.5045358T>G	CA383466003	KCNA5	c.1211T>G (p.Leu404Arg)
12	g.5045359G>A	CA231868663	KCNA5	c.1212G>A (p.Leu404=)	dbSNP
12	g.5045359G>C	CA6399824	KCNA5	c.1212G>C (p.Leu404=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045359G=	CA2013431205	KCNA5	c.1212G= (p.Leu404=)
12	g.5045359G>T	CA478095618	KCNA5	c.1212G>T (p.Leu404=)
12	g.5045360G>A	CA383466004	KCNA5	c.1213G>A (p.Val405Ile)	dbSNP
12	g.5045360G>C	CA383466005	KCNA5	c.1213G>C (p.Val405Leu)
12	g.5045360G=	CA2013431206	KCNA5	c.1213G= (p.Val405=)
12	g.5045360G>T	CA383466006	KCNA5	c.1213G>T (p.Val405Phe)
12	g.5045361T>A	CA383466007	KCNA5	c.1214T>A (p.Val405Asp)
12	g.5045361T>C	CA383466008	KCNA5	c.1214T>C (p.Val405Ala)	gnomAD v4
12	g.5045361T>G	CA383466009	KCNA5	c.1214T>G (p.Val405Gly)
12	g.5045362C>A	CA478095622	KCNA5	c.1215C>A (p.Val405=)
12	g.5045362C=	CA2013431207	KCNA5	c.1215C= (p.Val405=)
12	g.5045362C>G	CA478095625	KCNA5	c.1215C>G (p.Val405=)
12	g.5045362C>T	CA478095628	KCNA5	c.1215C>T (p.Val405=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045363C>A	CA478095630	KCNA5	c.1216C>A (p.Arg406=)
12	g.5045363C=	CA2013431208	KCNA5	c.1216C= (p.Arg406=)
12	g.5045363C>G	CA383466010	KCNA5	c.1216C>G (p.Arg406Gly)	dbSNP gnomAD v4
12	g.5045363C>T	CA6399825	KCNA5	c.1216C>T (p.Arg406Trp)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045364G>A	CA383466012	KCNA5	c.1217G>A (p.Arg406Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045364G>C	CA383466013	KCNA5	c.1217G>C (p.Arg406Pro)
12	g.5045364G=	CA2013431209	KCNA5	c.1217G= (p.Arg406=)
12	g.5045364G>T	CA383466011	KCNA5	c.1217G>T (p.Arg406Leu)	dbSNP
12	g.5045365G>A	CA6399826	KCNA5	c.1218G>A (p.Arg406=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045365G>C	CA478095637	KCNA5	c.1218G>C (p.Arg406=)
12	g.5045365G=	CA2013431210	KCNA5	c.1218G= (p.Arg406=)
12	g.5045365G>T	CA478095639	KCNA5	c.1218G>T (p.Arg406=)
12	g.5045366G>A	CA383466014	KCNA5	c.1219G>A (p.Val407Met)
12	g.5045366G>C	CA383466015	KCNA5	c.1219G>C (p.Val407Leu)
12	g.5045366G>T	CA383466016	KCNA5	c.1219G>T (p.Val407Leu)
12	g.5045367T>A	CA383466017	KCNA5	c.1220T>A (p.Val407Glu)
12	g.5045367T>C	CA383466018	KCNA5	c.1220T>C (p.Val407Ala)
12	g.5045367T>G	CA383466019	KCNA5	c.1220T>G (p.Val407Gly)
12	g.5045368G>A	CA6399827	KCNA5	c.1221G>A (p.Val407=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045368G>C	CA478095646	KCNA5	c.1221G>C (p.Val407=)
12	g.5045368G=	CA2013431211	KCNA5	c.1221G= (p.Val407=)
12	g.5045368G>T	CA478095647	KCNA5	c.1221G>T (p.Val407=)
12	g.5045369T>A	CA383466020	KCNA5	c.1222T>A (p.Phe408Ile)
12	g.5045369T>C	CA383466021	KCNA5	c.1222T>C (p.Phe408Leu)
12	g.5045369T>G	CA383466022	KCNA5	c.1222T>G (p.Phe408Val)
12	g.5045370T>A	CA383466023	KCNA5	c.1223T>A (p.Phe408Tyr)
12	g.5045370T>C	CA383466024	KCNA5	c.1223T>C (p.Phe408Ser)
12	g.5045370T>G	CA383466025	KCNA5	c.1223T>G (p.Phe408Cys)	dbSNP gnomAD v3 gnomAD v4
12	g.5045370T=	CA2013431212	KCNA5	c.1223T= (p.Phe408=)

Number of alleles fetched