Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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=)
12	g.5045371C>A	CA383466026	KCNA5	c.1224C>A (p.Phe408Leu)
12	g.5045371C>G	CA383466027	KCNA5	c.1224C>G (p.Phe408Leu)
12	g.5045371C>T	CA478095651	KCNA5	c.1224C>T (p.Phe408=)
12	g.5045372C>A	CA383466028	KCNA5	c.1225C>A (p.Arg409Ser)
12	g.5045372C=	CA2013431213	KCNA5	c.1225C= (p.Arg409=)
12	g.5045372C>G	CA6399829	KCNA5	c.1225C>G (p.Arg409Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045372C>T	CA6399828	KCNA5	c.1225C>T (p.Arg409Cys)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12	g.5045373G>A	CA383466029	KCNA5	c.1226G>A (p.Arg409His)	dbSNP gnomAD v4 COSMIC
12	g.5045373G>C	CA383466030	KCNA5	c.1226G>C (p.Arg409Pro)
12	g.5045373G=	CA2013431214	KCNA5	c.1226G= (p.Arg409=)
12	g.5045373G>T	CA383466031	KCNA5	c.1226G>T (p.Arg409Leu)	gnomAD v4
12	g.5045374C>A	CA478095655	KCNA5	c.1227C>A (p.Arg409=)
12	g.5045374C>G	CA478095656	KCNA5	c.1227C>G (p.Arg409=)
12	g.5045374C>T	CA478095657	KCNA5	c.1227C>T (p.Arg409=)
12	g.5045375A>C	CA383466032	KCNA5	c.1228A>C (p.Ile410Leu)
12	g.5045375A>G	CA383466033	KCNA5	c.1228A>G (p.Ile410Val)
12	g.5045375A>T	CA383466034	KCNA5	c.1228A>T (p.Ile410Phe)
12	g.5045376T>A	CA383466035	KCNA5	c.1229T>A (p.Ile410Asn)
12	g.5045376T>C	CA383466036	KCNA5	c.1229T>C (p.Ile410Thr)
12	g.5045376T>G	CA383466037	KCNA5	c.1229T>G (p.Ile410Ser)
12	g.5045377C>A	CA478095662	KCNA5	c.1230C>A (p.Ile410=)
12	g.5045377C=	CA2013431215	KCNA5	c.1230C= (p.Ile410=)
12	g.5045377C>G	CA383466038	KCNA5	c.1230C>G (p.Ile410Met)
12	g.5045377C>T	CA478095663	KCNA5	c.1230C>T (p.Ile410=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045378T>A	CA383466040	KCNA5	c.1231T>A (p.Phe411Ile)	gnomAD v4
12	g.5045378T>C	CA383466041	KCNA5	c.1231T>C (p.Phe411Leu)
12	g.5045378T>G	CA383466039	KCNA5	c.1231T>G (p.Phe411Val)
12	g.5045379T>A	CA383466043	KCNA5	c.1232T>A (p.Phe411Tyr)
12	g.5045379T>C	CA383466042	KCNA5	c.1232T>C (p.Phe411Ser)
12	g.5045379T>G	CA383466044	KCNA5	c.1232T>G (p.Phe411Cys)
12	g.5045380C>A	CA383466045	KCNA5	c.1233C>A (p.Phe411Leu)
12	g.5045380C=	CA2013431216	KCNA5	c.1233C= (p.Phe411=)
12	g.5045380C>G	CA383466046	KCNA5	c.1233C>G (p.Phe411Leu)
12	g.5045380C>T	CA6399830	KCNA5	c.1233C>T (p.Phe411=)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12	g.5045381_5045390del	CA2575052198	KCNA5	c.1234_1243del (p.Lys412AlafsTer17)	gnomAD v4
12	g.5045381A>C	CA383466047	KCNA5	c.1234A>C (p.Lys412Gln)
12	g.5045381A>G	CA383466048	KCNA5	c.1234A>G (p.Lys412Glu)
12	g.5045381A>T	CA383466049	KCNA5	c.1234A>T (p.Lys412Ter)
12	g.5045382A>C	CA383466050	KCNA5	c.1235A>C (p.Lys412Thr)
12	g.5045382A>G	CA383466051	KCNA5	c.1235A>G (p.Lys412Arg)
12	g.5045382A>T	CA383466052	KCNA5	c.1235A>T (p.Lys412Met)
12	g.5045383G>A	CA478095664	KCNA5	c.1236G>A (p.Lys412=)
12	g.5045383G>C	CA383466053	KCNA5	c.1236G>C (p.Lys412Asn)
12	g.5045383G>T	CA383466054	KCNA5	c.1236G>T (p.Lys412Asn)	gnomAD v4
12	g.5045384C>A	CA6399831	KCNA5	c.1237C>A (p.Leu413Ile)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045384C=	CA2013431217	KCNA5	c.1237C= (p.Leu413=)
12	g.5045384C>G	CA383466055	KCNA5	c.1237C>G (p.Leu413Val)
12	g.5045384C>T	CA383466056	KCNA5	c.1237C>T (p.Leu413Phe)
12	g.5045385T>A	CA383466059	KCNA5	c.1238T>A (p.Leu413His)
12	g.5045385T>C	CA383466058	KCNA5	c.1238T>C (p.Leu413Pro)
12	g.5045385T>G	CA383466057	KCNA5	c.1238T>G (p.Leu413Arg)
12	g.5045386C>A	CA478095666	KCNA5	c.1239C>A (p.Leu413=)
12	g.5045386C=	CA2013431218	KCNA5	c.1239C= (p.Leu413=)
12	g.5045386C>G	CA478095667	KCNA5	c.1239C>G (p.Leu413=)
12	g.5045386C>T	CA6399832	KCNA5	c.1239C>T (p.Leu413=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045387T>A	CA383466060	KCNA5	c.1240T>A (p.Ser414Thr)
12	g.5045387T>C	CA6399833	KCNA5	c.1240T>C (p.Ser414Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045387T>G	CA383466061	KCNA5	c.1240T>G (p.Ser414Ala)
12	g.5045387T=	CA2013431219	KCNA5	c.1240T= (p.Ser414=)
12	g.5045388C>A	CA383466062	KCNA5	c.1241C>A (p.Ser414Tyr)
12	g.5045388C>G	CA383466063	KCNA5	c.1241C>G (p.Ser414Cys)	gnomAD v4
12	g.5045388C>T	CA383466064	KCNA5	c.1241C>T (p.Ser414Phe)
12	g.5045389C>A	CA478095669	KCNA5	c.1242C>A (p.Ser414=)
12	g.5045389C=	CA2013431220	KCNA5	c.1242C= (p.Ser414=)
12	g.5045389C>G	CA6399834	KCNA5	c.1242C>G (p.Ser414=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045389C>T	CA478095672	KCNA5	c.1242C>T (p.Ser414=)	ClinVar dbSNP
12	g.5045390C>A	CA383466065	KCNA5	c.1243C>A (p.Arg415Ser)
12	g.5045390C=	CA2013431221	KCNA5	c.1243C= (p.Arg415=)
12	g.5045390C>G	CA383466066	KCNA5	c.1243C>G (p.Arg415Gly)	gnomAD v4
12	g.5045390C>T	CA383466067	KCNA5	c.1243C>T (p.Arg415Cys)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045391G>A	CA6399835	KCNA5	c.1244G>A (p.Arg415His)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045391G>C	CA383466069	KCNA5	c.1244G>C (p.Arg415Pro)
12	g.5045391G=	CA2013431222	KCNA5	c.1244G= (p.Arg415=)
12	g.5045391G>T	CA383466068	KCNA5	c.1244G>T (p.Arg415Leu)	gnomAD v4
12	g.5045392C>A	CA478095674	KCNA5	c.1245C>A (p.Arg415=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045392C=	CA2013431223	KCNA5	c.1245C= (p.Arg415=)
12	g.5045392C>G	CA478095676	KCNA5	c.1245C>G (p.Arg415=)
12	g.5045392C>T	CA478095675	KCNA5	c.1245C>T (p.Arg415=)
12	g.5045393C>A	CA383466070	KCNA5	c.1246C>A (p.His416Asn)
12	g.5045393C>G	CA383466071	KCNA5	c.1246C>G (p.His416Asp)
12	g.5045393C>T	CA383466072	KCNA5	c.1246C>T (p.His416Tyr)
12	g.5045394A>C	CA383466073	KCNA5	c.1247A>C (p.His416Pro)
12	g.5045394A>G	CA383466074	KCNA5	c.1247A>G (p.His416Arg)
12	g.5045394A>T	CA383466075	KCNA5	c.1247A>T (p.His416Leu)
12	g.5045395C>A	CA383466077	KCNA5	c.1248C>A (p.His416Gln)
12	g.5045395C>G	CA383466076	KCNA5	c.1248C>G (p.His416Gln)
12	g.5045395C>T	CA478095681	KCNA5	c.1248C>T (p.His416=)	COSMIC
12	g.5045396T>A	CA383466078	KCNA5	c.1249T>A (p.Ser417Thr)
12	g.5045396T>C	CA383466079	KCNA5	c.1249T>C (p.Ser417Pro)
12	g.5045396T>G	CA383466080	KCNA5	c.1249T>G (p.Ser417Ala)	gnomAD v4
12	g.5045397C>A	CA383466081	KCNA5	c.1250C>A (p.Ser417Tyr)
12	g.5045397C>G	CA383466082	KCNA5	c.1250C>G (p.Ser417Cys)
12	g.5045397C>T	CA383466083	KCNA5	c.1250C>T (p.Ser417Phe)	gnomAD v4
12	g.5045398C>A	CA478095684	KCNA5	c.1251C>A (p.Ser417=)
12	g.5045398C=	CA2013431224	KCNA5	c.1251C= (p.Ser417=)
12	g.5045398C>G	CA478095683	KCNA5	c.1251C>G (p.Ser417=)
12	g.5045398C>T	CA231868734	KCNA5	c.1251C>T (p.Ser417=)	dbSNP gnomAD v4
12	g.5045399A>C	CA383466084	KCNA5	c.1252A>C (p.Lys418Gln)
12	g.5045399A>G	CA383466086	KCNA5	c.1252A>G (p.Lys418Glu)
12	g.5045399A>T	CA383466085	KCNA5	c.1252A>T (p.Lys418Ter)
12	g.5045400A=	CA2013431225	KCNA5	c.1253A= (p.Lys418=)
12	g.5045400A>C	CA383466087	KCNA5	c.1253A>C (p.Lys418Thr)
12	g.5045400A>G	CA6399836	KCNA5	c.1253A>G (p.Lys418Arg)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045400A>T	CA383466088	KCNA5	c.1253A>T (p.Lys418Met)
12	g.5045401G>A	CA478095688	KCNA5	c.1254G>A (p.Lys418=)
12	g.5045401G>C	CA383466089	KCNA5	c.1254G>C (p.Lys418Asn)
12	g.5045401G>T	CA383466090	KCNA5	c.1254G>T (p.Lys418Asn)
12	g.5045402G>A	CA383466091	KCNA5	c.1255G>A (p.Gly419Arg)
12	g.5045402G>C	CA383466092	KCNA5	c.1255G>C (p.Gly419Arg)
12	g.5045402G>T	CA383466093	KCNA5	c.1255G>T (p.Gly419Trp)	COSMIC
12	g.5045403G>A	CA383466094	KCNA5	c.1256G>A (p.Gly419Glu)	gnomAD v4
12	g.5045403G>C	CA383466095	KCNA5	c.1256G>C (p.Gly419Ala)
12	g.5045403G>T	CA383466096	KCNA5	c.1256G>T (p.Gly419Val)
12	g.5045404G>A	CA478095691	KCNA5	c.1257G>A (p.Gly419=)	gnomAD v4
12	g.5045404G>C	CA478095694	KCNA5	c.1257G>C (p.Gly419=)	gnomAD v4
12	g.5045404G>T	CA478095693	KCNA5	c.1257G>T (p.Gly419=)
12	g.5045405C>A	CA383466097	KCNA5	c.1258C>A (p.Leu420Met)
12	g.5045405C>G	CA383466098	KCNA5	c.1258C>G (p.Leu420Val)
12	g.5045405C>T	CA478095695	KCNA5	c.1258C>T (p.Leu420=)
12	g.5045406T>A	CA383466099	KCNA5	c.1259T>A (p.Leu420Gln)
12	g.5045406T>C	CA383466101	KCNA5	c.1259T>C (p.Leu420Pro)
12	g.5045406T>G	CA383466100	KCNA5	c.1259T>G (p.Leu420Arg)
12	g.5045407G>A	CA478095699	KCNA5	c.1260G>A (p.Leu420=)	gnomAD v4
12	g.5045407G>C	CA478095700	KCNA5	c.1260G>C (p.Leu420=)
12	g.5045407G>T	CA478095701	KCNA5	c.1260G>T (p.Leu420=)
12	g.5045408C>A	CA383466102	KCNA5	c.1261C>A (p.Gln421Lys)
12	g.5045408C>G	CA383466103	KCNA5	c.1261C>G (p.Gln421Glu)
12	g.5045408C>T	CA383466104	KCNA5	c.1261C>T (p.Gln421Ter)
12	g.5045409A>C	CA383466105	KCNA5	c.1262A>C (p.Gln421Pro)
12	g.5045409A>G	CA383466106	KCNA5	c.1262A>G (p.Gln421Arg)
12	g.5045409A>T	CA383466107	KCNA5	c.1262A>T (p.Gln421Leu)
12	g.5045410G>A	CA478095704	KCNA5	c.1263G>A (p.Gln421=)
12	g.5045410G>C	CA383466108	KCNA5	c.1263G>C (p.Gln421His)
12	g.5045410G>T	CA383466109	KCNA5	c.1263G>T (p.Gln421His)
12	g.5045410_5045411delinsGA	CA2013431226	KCNA5	c.1263_1264delinsGA (p.Gln421=)
12	g.5045411del	CA919011875	KCNA5	c.1264del (p.Ile422SerfsTer10)	dbSNP gnomAD v4
12	g.5045411A>C	CA383466110	KCNA5	c.1264A>C (p.Ile422Leu)
12	g.5045411A>G	CA383466111	KCNA5	c.1264A>G (p.Ile422Val)
12	g.5045411A>T	CA383466112	KCNA5	c.1264A>T (p.Ile422Phe)

Number of alleles fetched