Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045597G>A	CA231868985	KCNA5	c.1450G>A (p.Gly484Arg)	dbSNP
12	g.5045597G>C	CA383466516	KCNA5	c.1450G>C (p.Gly484Arg)	gnomAD v4
12	g.5045597G=	CA2013431296	KCNA5	c.1450G= (p.Gly484=)
12	g.5045597G>T	CA383466517	KCNA5	c.1450G>T (p.Gly484Trp)	gnomAD v4
12	g.5045598G>A	CA383466520	KCNA5	c.1451G>A (p.Gly484Glu)
12	g.5045598G>C	CA383466519	KCNA5	c.1451G>C (p.Gly484Ala)
12	g.5045598G>T	CA383466518	KCNA5	c.1451G>T (p.Gly484Val)
12	g.5045599G>A	CA478095962	KCNA5	c.1452G>A (p.Gly484=)	gnomAD v4
12	g.5045599G>C	CA478095964	KCNA5	c.1452G>C (p.Gly484=)
12	g.5045599G>T	CA478095963	KCNA5	c.1452G>T (p.Gly484=)	COSMIC
12	g.5045600G>A	CA383466521	KCNA5	c.1453G>A (p.Asp485Asn)	gnomAD v4 COSMIC
12	g.5045600G>C	CA383466522	KCNA5	c.1453G>C (p.Asp485His)	gnomAD v4
12	g.5045600G>T	CA383466523	KCNA5	c.1453G>T (p.Asp485Tyr)
12	g.5045601A>C	CA383466524	KCNA5	c.1454A>C (p.Asp485Ala)
12	g.5045601A>G	CA383466525	KCNA5	c.1454A>G (p.Asp485Gly)
12	g.5045601A>T	CA383466526	KCNA5	c.1454A>T (p.Asp485Val)
12	g.5045602C>A	CA383466527	KCNA5	c.1455C>A (p.Asp485Glu)
12	g.5045602C>G	CA383466528	KCNA5	c.1455C>G (p.Asp485Glu)
12	g.5045602C>T	CA478095971	KCNA5	c.1455C>T (p.Asp485=)
12	g.5045603A=	CA2013431297	KCNA5	c.1456A= (p.Met486=)
12	g.5045603A>C	CA383466529	KCNA5	c.1456A>C (p.Met486Leu)
12	g.5045603A>G	CA383466530	KCNA5	c.1456A>G (p.Met486Val)	dbSNP gnomAD v4
12	g.5045603A>T	CA383466531	KCNA5	c.1456A>T (p.Met486Leu)
12	g.5045604T>A	CA383466532	KCNA5	c.1457T>A (p.Met486Lys)
12	g.5045604T>C	CA383466533	KCNA5	c.1457T>C (p.Met486Thr)
12	g.5045604T>G	CA383466534	KCNA5	c.1457T>G (p.Met486Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045604T=	CA2013431298	KCNA5	c.1457T= (p.Met486=)
12	g.5045605G>A	CA383466537	KCNA5	c.1458G>A (p.Met486Ile)
12	g.5045605G>C	CA383466536	KCNA5	c.1458G>C (p.Met486Ile)	gnomAD v4
12	g.5045605G>T	CA383466535	KCNA5	c.1458G>T (p.Met486Ile)
12	g.5045606A>C	CA478095976	KCNA5	c.1459A>C (p.Arg487=)
12	g.5045606A>G	CA383466538	KCNA5	c.1459A>G (p.Arg487Gly)
12	g.5045606A>T	CA383466539	KCNA5	c.1459A>T (p.Arg487Trp)
12	g.5045607G>A	CA383466540	KCNA5	c.1460G>A (p.Arg487Lys)
12	g.5045607G>C	CA383466541	KCNA5	c.1460G>C (p.Arg487Thr)
12	g.5045607G>T	CA383466542	KCNA5	c.1460G>T (p.Arg487Met)
12	g.5045608G>A	CA478095980	KCNA5	c.1461G>A (p.Arg487=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045608G>C	CA383466543	KCNA5	c.1461G>C (p.Arg487Ser)
12	g.5045608G=	CA2013431299	KCNA5	c.1461G= (p.Arg487=)
12	g.5045608G>T	CA383466544	KCNA5	c.1461G>T (p.Arg487Ser)
12	g.5045609C>A	CA383466545	KCNA5	c.1462C>A (p.Pro488Thr)
12	g.5045609C>G	CA383466546	KCNA5	c.1462C>G (p.Pro488Ala)
12	g.5045609C>T	CA383466547	KCNA5	c.1462C>T (p.Pro488Ser)	gnomAD v4
12	g.5045610C>A	CA383466548	KCNA5	c.1463C>A (p.Pro488His)
12	g.5045610C=	CA2013431300	KCNA5	c.1463C= (p.Pro488=)
12	g.5045610C>G	CA383466549	KCNA5	c.1463C>G (p.Pro488Arg)
12	g.5045610C>T	CA231868999	KCNA5	c.1463C>T (p.Pro488Leu)	dbSNP COSMIC
12	g.5045611C>A	CA478095984	KCNA5	c.1464C>A (p.Pro488=)
12	g.5045611C>G	CA478095986	KCNA5	c.1464C>G (p.Pro488=)
12	g.5045611C>T	CA478095985	KCNA5	c.1464C>T (p.Pro488=)	gnomAD v4
12	g.5045612A>C	CA383466552	KCNA5	c.1465A>C (p.Ile489Leu)
12	g.5045612A>G	CA383466551	KCNA5	c.1465A>G (p.Ile489Val)
12	g.5045612A>T	CA383466550	KCNA5	c.1465A>T (p.Ile489Phe)
12	g.5045613T>A	CA383466553	KCNA5	c.1466T>A (p.Ile489Asn)
12	g.5045613T>C	CA383466554	KCNA5	c.1466T>C (p.Ile489Thr)
12	g.5045613T>G	CA383466555	KCNA5	c.1466T>G (p.Ile489Ser)
12	g.5045613_5045615delinsTCA	CA2013431301	KCNA5	c.1466_1468delinsTCA (p.Ile489=)
12	g.5045614C>A	CA478095990	KCNA5	c.1467C>A (p.Ile489=)
12	g.5045614C=	CA2013431303	KCNA5	c.1467C= (p.Ile489=)
12	g.5045614C>G	CA383466556	KCNA5	c.1467C>G (p.Ile489Met)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045614C>T	CA478095993	KCNA5	c.1467C>T (p.Ile489=)
12	g.5045615_5045616del	CA2013431302	KCNA5	c.1468_1469del (p.Thr490CysfsTer?)	dbSNP gnomAD v4
12	g.5045615A>C	CA383466557	KCNA5	c.1468A>C (p.Thr490Pro)
12	g.5045615A>G	CA383466558	KCNA5	c.1468A>G (p.Thr490Ala)
12	g.5045615A>T	CA383466559	KCNA5	c.1468A>T (p.Thr490Ser)
12	g.5045616C>A	CA383466560	KCNA5	c.1469C>A (p.Thr490Asn)
12	g.5045616C>G	CA383466561	KCNA5	c.1469C>G (p.Thr490Ser)
12	g.5045616C>T	CA383466562	KCNA5	c.1469C>T (p.Thr490Ile)	gnomAD v4
12	g.5045617T>A	CA478095999	KCNA5	c.1470T>A (p.Thr490=)	COSMIC
12	g.5045617T>C	CA478096001	KCNA5	c.1470T>C (p.Thr490=)	dbSNP gnomAD v4
12	g.5045617T>G	CA478096002	KCNA5	c.1470T>G (p.Thr490=)
12	g.5045617T=	CA2013431304	KCNA5	c.1470T= (p.Thr490=)
12	g.5045618G>A	CA383466563	KCNA5	c.1471G>A (p.Val491Ile)	ClinVar gnomAD v4
12	g.5045618G>C	CA383466564	KCNA5	c.1471G>C (p.Val491Leu)
12	g.5045618G>T	CA383466565	KCNA5	c.1471G>T (p.Val491Phe)
12	g.5045619T>A	CA383466567	KCNA5	c.1472T>A (p.Val491Asp)
12	g.5045619T>C	CA6399872	KCNA5	c.1472T>C (p.Val491Ala)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045619T>G	CA383466566	KCNA5	c.1472T>G (p.Val491Gly)
12	g.5045619T=	CA2013431305	KCNA5	c.1472T= (p.Val491=)
12	g.5045620T>A	CA478096009	KCNA5	c.1473T>A (p.Val491=)
12	g.5045620T>C	CA478096010	KCNA5	c.1473T>C (p.Val491=)
12	g.5045620T>G	CA478096011	KCNA5	c.1473T>G (p.Val491=)
12	g.5045620T=	CA2013431306	KCNA5	c.1473T= (p.Val491=)
12	g.5045621G>A	CA383466568	KCNA5	c.1474G>A (p.Gly492Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045621G>C	CA383466570	KCNA5	c.1474G>C (p.Gly492Arg)
12	g.5045621G=	CA2013431307	KCNA5	c.1474G= (p.Gly492=)
12	g.5045621G>T	CA383466569	KCNA5	c.1474G>T (p.Gly492Trp)
12	g.5045625dup	CA603482593	KCNA5	c.1478dup (p.Lys494GlnfsTer?)	dbSNP gnomAD v2 gnomAD v4
12	g.5045625del	CA2741226807	KCNA5	c.1478del (p.Gly493AlafsTer?)
12	g.5045622G>A	CA383466571	KCNA5	c.1475G>A (p.Gly492Glu)	COSMIC
12	g.5045622G>C	CA383466572	KCNA5	c.1475G>C (p.Gly492Ala)
12	g.5045622G>T	CA383466573	KCNA5	c.1475G>T (p.Gly492Val)
12	g.5045623G>A	CA478096017	KCNA5	c.1476G>A (p.Gly492=)	gnomAD v4
12	g.5045623G>C	CA478096018	KCNA5	c.1476G>C (p.Gly492=)
12	g.5045623G>T	CA478096019	KCNA5	c.1476G>T (p.Gly492=)
12	g.5045624G>A	CA383466574	KCNA5	c.1477G>A (p.Gly493Ser)	COSMIC
12	g.5045624G>C	CA383466575	KCNA5	c.1477G>C (p.Gly493Arg)
12	g.5045624G>T	CA383466576	KCNA5	c.1477G>T (p.Gly493Cys)
12	g.5045625G>A	CA383466577	KCNA5	c.1478G>A (p.Gly493Asp)	gnomAD v4
12	g.5045625G>C	CA383466578	KCNA5	c.1478G>C (p.Gly493Ala)
12	g.5045625G>T	CA383466579	KCNA5	c.1478G>T (p.Gly493Val)
12	g.5045626C>A	CA478096027	KCNA5	c.1479C>A (p.Gly493=)	gnomAD v4
12	g.5045626C>G	CA478096031	KCNA5	c.1479C>G (p.Gly493=)
12	g.5045626C>T	CA478096029	KCNA5	c.1479C>T (p.Gly493=)
12	g.5045627A=	CA2013431308	KCNA5	c.1480A= (p.Lys494=)
12	g.5045627A>C	CA383466580	KCNA5	c.1480A>C (p.Lys494Gln)
12	g.5045627A>G	CA383466581	KCNA5	c.1480A>G (p.Lys494Glu)
12	g.5045627A>T	CA383466582	KCNA5	c.1480A>T (p.Lys494Ter)	dbSNP gnomAD v3 gnomAD v4
12	g.5045628A>C	CA383466585	KCNA5	c.1481A>C (p.Lys494Thr)	gnomAD v4
12	g.5045628A>G	CA383466583	KCNA5	c.1481A>G (p.Lys494Arg)
12	g.5045628A>T	CA383466584	KCNA5	c.1481A>T (p.Lys494Met)
12	g.5045629G>A	CA478096038	KCNA5	c.1482G>A (p.Lys494=)
12	g.5045629G>C	CA383466586	KCNA5	c.1482G>C (p.Lys494Asn)
12	g.5045629G>T	CA383466587	KCNA5	c.1482G>T (p.Lys494Asn)
12	g.5045630A=	CA2013431309	KCNA5	c.1483A= (p.Ile495=)
12	g.5045630A>C	CA383466588	KCNA5	c.1483A>C (p.Ile495Leu)
12	g.5045630A>G	CA6399873	KCNA5	c.1483A>G (p.Ile495Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045630A>T	CA383466589	KCNA5	c.1483A>T (p.Ile495Phe)	dbSNP
12	g.5045631T>A	CA383466590	KCNA5	c.1484T>A (p.Ile495Asn)
12	g.5045631T>C	CA383466591	KCNA5	c.1484T>C (p.Ile495Thr)	gnomAD v4
12	g.5045631T>G	CA383466592	KCNA5	c.1484T>G (p.Ile495Ser)
12	g.5045632C>A	CA6399874	KCNA5	c.1485C>A (p.Ile495=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045632C=	CA2013431310	KCNA5	c.1485C= (p.Ile495=)
12	g.5045632C>G	CA383466593	KCNA5	c.1485C>G (p.Ile495Met)	COSMIC
12	g.5045632C>T	CA6399875	KCNA5	c.1485C>T (p.Ile495=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045633G>A	CA6399876	KCNA5	c.1486G>A (p.Val496Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045633G>C	CA383466595	KCNA5	c.1486G>C (p.Val496Leu)
12	g.5045633G=	CA2013431311	KCNA5	c.1486G= (p.Val496=)
12	g.5045633G>T	CA383466594	KCNA5	c.1486G>T (p.Val496Leu)
12	g.5045634T>A	CA383466596	KCNA5	c.1487T>A (p.Val496Glu)
12	g.5045634T>C	CA383466597	KCNA5	c.1487T>C (p.Val496Ala)	gnomAD v4
12	g.5045634T>G	CA383466598	KCNA5	c.1487T>G (p.Val496Gly)
12	g.5045635G>A	CA6399877	KCNA5	c.1488G>A (p.Val496=)	dbSNP ExAC gnomAD v4
12	g.5045635G>C	CA478096056	KCNA5	c.1488G>C (p.Val496=)
12	g.5045635G=	CA2013431312	KCNA5	c.1488G= (p.Val496=)
12	g.5045635G>T	CA478096055	KCNA5	c.1488G>T (p.Val496=)
12	g.5045636G>A	CA383466599	KCNA5	c.1489G>A (p.Gly497Ser)
12	g.5045636G>C	CA383466600	KCNA5	c.1489G>C (p.Gly497Arg)
12	g.5045636G>T	CA383466601	KCNA5	c.1489G>T (p.Gly497Cys)
12	g.5045637G>A	CA383466602	KCNA5	c.1490G>A (p.Gly497Asp)
12	g.5045637G>C	CA383466603	KCNA5	c.1490G>C (p.Gly497Ala)
12	g.5045637G>T	CA383466604	KCNA5	c.1490G>T (p.Gly497Val)
12	g.5045638C>A	CA478096061	KCNA5	c.1491C>A (p.Gly497=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045638C=	CA2013431313	KCNA5	c.1491C= (p.Gly497=)
12	g.5045638C>G	CA478096062	KCNA5	c.1491C>G (p.Gly497=)	gnomAD v4
12	g.5045638C>T	CA478096063	KCNA5	c.1491C>T (p.Gly497=)
12	g.5045639T>A	CA383466605	KCNA5	c.1492T>A (p.Ser498Thr)
12	g.5045639T>C	CA383466606	KCNA5	c.1492T>C (p.Ser498Pro)
12	g.5045639T>G	CA383466607	KCNA5	c.1492T>G (p.Ser498Ala)
12	g.5045640C>A	CA383466609	KCNA5	c.1493C>A (p.Ser498Ter)
12	g.5045640C=	CA2013431314	KCNA5	c.1493C= (p.Ser498=)
12	g.5045640C>G	CA383466608	KCNA5	c.1493C>G (p.Ser498Trp)
12	g.5045640C>T	CA6399878	KCNA5	c.1493C>T (p.Ser498Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045641G>A	CA6399879	KCNA5	c.1494G>A (p.Ser498=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045641G>C	CA6399880	KCNA5	c.1494G>C (p.Ser498=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045641G=	CA2013431315	KCNA5	c.1494G= (p.Ser498=)
12	g.5045641G>T	CA478096065	KCNA5	c.1494G>T (p.Ser498=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045642C>A	CA383466610	KCNA5	c.1495C>A (p.Leu499Met)	dbSNP
12	g.5045642C=	CA2013431316	KCNA5	c.1495C= (p.Leu499=)
12	g.5045642C>G	CA383466611	KCNA5	c.1495C>G (p.Leu499Val)
12	g.5045642C>T	CA478096069	KCNA5	c.1495C>T (p.Leu499=)	gnomAD v4
12	g.5045643T>A	CA383466612	KCNA5	c.1496T>A (p.Leu499Gln)
12	g.5045643T>C	CA383466613	KCNA5	c.1496T>C (p.Leu499Pro)
12	g.5045643T>G	CA383466614	KCNA5	c.1496T>G (p.Leu499Arg)
12	g.5045644G>A	CA6399881	KCNA5	c.1497G>A (p.Leu499=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045644G>C	CA478096071	KCNA5	c.1497G>C (p.Leu499=)
12	g.5045644G=	CA2013431317	KCNA5	c.1497G= (p.Leu499=)
12	g.5045644G>T	CA478096072	KCNA5	c.1497G>T (p.Leu499=)
12	g.5045645T>A	CA383466615	KCNA5	c.1498T>A (p.Cys500Ser)
12	g.5045645T>C	CA383466616	KCNA5	c.1498T>C (p.Cys500Arg)
12	g.5045645T>G	CA383466617	KCNA5	c.1498T>G (p.Cys500Gly)
12	g.5045646G>A	CA383466620	KCNA5	c.1499G>A (p.Cys500Tyr)	dbSNP
12	g.5045646G>C	CA383466619	KCNA5	c.1499G>C (p.Cys500Ser)
12	g.5045646G=	CA2013431318	KCNA5	c.1499G= (p.Cys500=)
12	g.5045646G>T	CA383466618	KCNA5	c.1499G>T (p.Cys500Phe)
12	g.5045647T>A	CA383466621	KCNA5	c.1500T>A (p.Cys500Ter)
12	g.5045647T>C	CA478096074	KCNA5	c.1500T>C (p.Cys500=)
12	g.5045647T>G	CA383466622	KCNA5	c.1500T>G (p.Cys500Trp)
12	g.5045648G>A	CA383466623	KCNA5	c.1501G>A (p.Ala501Thr)	ClinVar dbSNP
12	g.5045648G>C	CA383466625	KCNA5	c.1501G>C (p.Ala501Pro)
12	g.5045648G>T	CA383466624	KCNA5	c.1501G>T (p.Ala501Ser)
12	g.5045649C>A	CA383466626	KCNA5	c.1502C>A (p.Ala501Asp)
12	g.5045649C=	CA2013431319	KCNA5	c.1502C= (p.Ala501=)
12	g.5045649C>G	CA383466627	KCNA5	c.1502C>G (p.Ala501Gly)
12	g.5045649C>T	CA383466628	KCNA5	c.1502C>T (p.Ala501Val)	dbSNP
12	g.5045650C>A	CA478096076	KCNA5	c.1503C>A (p.Ala501=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045650C=	CA2013431320	KCNA5	c.1503C= (p.Ala501=)
12	g.5045650C>G	CA478096077	KCNA5	c.1503C>G (p.Ala501=)	gnomAD v4
12	g.5045650C>T	CA478096078	KCNA5	c.1503C>T (p.Ala501=)
12	g.5045651A=	CA2013431321	KCNA5	c.1504A= (p.Ile502=)
12	g.5045651A>C	CA383466629	KCNA5	c.1504A>C (p.Ile502Leu)
12	g.5045651A>G	CA383466630	KCNA5	c.1504A>G (p.Ile502Val)	dbSNP gnomAD v2 gnomAD v4
12	g.5045651A>T	CA383466631	KCNA5	c.1504A>T (p.Ile502Phe)
12	g.5045652T>A	CA383466632	KCNA5	c.1505T>A (p.Ile502Asn)	dbSNP gnomAD v4
12	g.5045652T>C	CA383466633	KCNA5	c.1505T>C (p.Ile502Thr)	gnomAD v4
12	g.5045652T>G	CA383466634	KCNA5	c.1505T>G (p.Ile502Ser)
12	g.5045653C>A	CA478096080	KCNA5	c.1506C>A (p.Ile502=)
12	g.5045653C=	CA2013431322	KCNA5	c.1506C= (p.Ile502=)
12	g.5045653C>G	CA383466635	KCNA5	c.1506C>G (p.Ile502Met)	dbSNP gnomAD v3 gnomAD v4
12	g.5045653C>T	CA6399882	KCNA5	c.1506C>T (p.Ile502=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045654G>A	CA6399883	KCNA5	c.1507G>A (p.Ala503Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045654G>C	CA383466636	KCNA5	c.1507G>C (p.Ala503Pro)
12	g.5045654G=	CA2013431323	KCNA5	c.1507G= (p.Ala503=)
12	g.5045654G>T	CA383466637	KCNA5	c.1507G>T (p.Ala503Ser)	gnomAD v4
12	g.5045655C>A	CA383466638	KCNA5	c.1508C>A (p.Ala503Asp)
12	g.5045655C>G	CA383466639	KCNA5	c.1508C>G (p.Ala503Gly)
12	g.5045655C>T	CA383466640	KCNA5	c.1508C>T (p.Ala503Val)
12	g.5045656C>A	CA478096082	KCNA5	c.1509C>A (p.Ala503=)	COSMIC
12	g.5045656C=	CA2013431324	KCNA5	c.1509C= (p.Ala503=)
12	g.5045656C>G	CA478096084	KCNA5	c.1509C>G (p.Ala503=)
12	g.5045656C>T	CA6399884	KCNA5	c.1509C>T (p.Ala503=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045657G>A	CA383466641	KCNA5	c.1510G>A (p.Gly504Arg)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045657G>C	CA383466642	KCNA5	c.1510G>C (p.Gly504Arg)	COSMIC
12	g.5045657G=	CA2013431325	KCNA5	c.1510G= (p.Gly504=)
12	g.5045657G>T	CA383466643	KCNA5	c.1510G>T (p.Gly504Trp)
12	g.5045660del	CA603482594	KCNA5	c.1513del (p.Val505SerfsTer?)	gnomAD v2 gnomAD v4
12	g.5045658G>A	CA383466644	KCNA5	c.1511G>A (p.Gly504Glu)	dbSNP gnomAD v4
12	g.5045658G>C	CA383466645	KCNA5	c.1511G>C (p.Gly504Ala)
12	g.5045658G=	CA2013431326	KCNA5	c.1511G= (p.Gly504=)
12	g.5045658G>T	CA383466646	KCNA5	c.1511G>T (p.Gly504Val)
12	g.5045659G>A	CA6399885	KCNA5	c.1512G>A (p.Gly504=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045659G>C	CA478096087	KCNA5	c.1512G>C (p.Gly504=)
12	g.5045659G=	CA2013431327	KCNA5	c.1512G= (p.Gly504=)
12	g.5045659G>T	CA478096086	KCNA5	c.1512G>T (p.Gly504=)	ClinVar gnomAD v4
12	g.5045660G>A	CA383466648	KCNA5	c.1513G>A (p.Val505Ile)
12	g.5045660G>C	CA383466649	KCNA5	c.1513G>C (p.Val505Leu)
12	g.5045660G>T	CA383466647	KCNA5	c.1513G>T (p.Val505Phe)	gnomAD v4
12	g.5045661T>A	CA383466650	KCNA5	c.1514T>A (p.Val505Asp)	gnomAD v4
12	g.5045661T>C	CA383466651	KCNA5	c.1514T>C (p.Val505Ala)	ClinVar dbSNP COSMIC
12	g.5045661T>G	CA383466652	KCNA5	c.1514T>G (p.Val505Gly)
12	g.5045662C>A	CA478096093	KCNA5	c.1515C>A (p.Val505=)	gnomAD v4
12	g.5045662C>G	CA478096092	KCNA5	c.1515C>G (p.Val505=)	gnomAD v4
12	g.5045662C>T	CA478096091	KCNA5	c.1515C>T (p.Val505=)
12	g.5045663C>A	CA383466653	KCNA5	c.1516C>A (p.Leu506Ile)
12	g.5045663C=	CA2013431328	KCNA5	c.1516C= (p.Leu506=)
12	g.5045663C>G	CA383466654	KCNA5	c.1516C>G (p.Leu506Val)
12	g.5045663C>T	CA231869057	KCNA5	c.1516C>T (p.Leu506Phe)	dbSNP gnomAD v4 COSMIC
12	g.5045664T>A	CA383466655	KCNA5	c.1517T>A (p.Leu506His)
12	g.5045664T>C	CA383466656	KCNA5	c.1517T>C (p.Leu506Pro)
12	g.5045664T>G	CA383466657	KCNA5	c.1517T>G (p.Leu506Arg)
12	g.5045665C>A	CA478096097	KCNA5	c.1518C>A (p.Leu506=)
12	g.5045665C>G	CA478096096	KCNA5	c.1518C>G (p.Leu506=)
12	g.5045665C>T	CA478096095	KCNA5	c.1518C>T (p.Leu506=)
12	g.5045666A=	CA2013431329	KCNA5	c.1519A= (p.Thr507=)
12	g.5045666A>C	CA383466658	KCNA5	c.1519A>C (p.Thr507Pro)	dbSNP
12	g.5045666A>G	CA383466659	KCNA5	c.1519A>G (p.Thr507Ala)
12	g.5045666A>T	CA6399886	KCNA5	c.1519A>T (p.Thr507Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045667C>A	CA383466661	KCNA5	c.1520C>A (p.Thr507Asn)
12	g.5045667C>G	CA383466662	KCNA5	c.1520C>G (p.Thr507Ser)
12	g.5045667C>T	CA383466660	KCNA5	c.1520C>T (p.Thr507Ile)
12	g.5045668del	CA2573053695	KCNA5	c.1521del (p.Ile508LeufsTer?)	ClinVar dbSNP
12	g.5045668C>A	CA478096099	KCNA5	c.1521C>A (p.Thr507=)	gnomAD v4 COSMIC
12	g.5045668C=	CA2013431330	KCNA5	c.1521C= (p.Thr507=)
12	g.5045668C>G	CA6399887	KCNA5	c.1521C>G (p.Thr507=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045668C>T	CA478096098	KCNA5	c.1521C>T (p.Thr507=)
12	g.5045669A=	CA2013431331	KCNA5	c.1522A= (p.Ile508=)
12	g.5045669A>C	CA383466663	KCNA5	c.1522A>C (p.Ile508Leu)
12	g.5045669A>G	CA6399888	KCNA5	c.1522A>G (p.Ile508Val)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045669A>T	CA383466664	KCNA5	c.1522A>T (p.Ile508Phe)
12	g.5045670T>A	CA383466667	KCNA5	c.1523T>A (p.Ile508Asn)
12	g.5045670T>C	CA383466666	KCNA5	c.1523T>C (p.Ile508Thr)	dbSNP gnomAD v4
12	g.5045670T>G	CA383466665	KCNA5	c.1523T>G (p.Ile508Ser)
12	g.5045670T=	CA2013431332	KCNA5	c.1523T= (p.Ile508=)
12	g.5045671T>A	CA478096100	KCNA5	c.1524T>A (p.Ile508=)
12	g.5045671T>C	CA478096101	KCNA5	c.1524T>C (p.Ile508=)
12	g.5045671T>G	CA383466668	KCNA5	c.1524T>G (p.Ile508Met)
12	g.5045672G>A	CA383466669	KCNA5	c.1525G>A (p.Ala509Thr)	gnomAD v4
12	g.5045672G>C	CA383466670	KCNA5	c.1525G>C (p.Ala509Pro)
12	g.5045672G>T	CA383466671	KCNA5	c.1525G>T (p.Ala509Ser)
12	g.5045673C>A	CA383466672	KCNA5	c.1526C>A (p.Ala509Asp)
12	g.5045673C>G	CA383466673	KCNA5	c.1526C>G (p.Ala509Gly)
12	g.5045673C>T	CA383466674	KCNA5	c.1526C>T (p.Ala509Val)	gnomAD v4 COSMIC
12	g.5045673_5045677delinsCCCTG	CA2013431333	KCNA5	c.1526_1530delinsCCCTG (p.Ala509=)
12	g.5045674C>A	CA478096102	KCNA5	c.1527C>A (p.Ala509=)
12	g.5045674C>G	CA478096103	KCNA5	c.1527C>G (p.Ala509=)
12	g.5045674C>T	CA478096104	KCNA5	c.1527C>T (p.Ala509=)	gnomAD v4
12	g.5045678_5045681del	CA689647350	KCNA5	c.1531_1534del (p.Pro511CysfsTer?)	dbSNP
12	g.5045675C>A	CA383466676	KCNA5	c.1528C>A (p.Leu510Met)
12	g.5045675C=	CA2013431334	KCNA5	c.1528C= (p.Leu510=)
12	g.5045675C>G	CA383466675	KCNA5	c.1528C>G (p.Leu510Val)	ClinVar dbSNP
12	g.5045675C>T	CA478096105	KCNA5	c.1528C>T (p.Leu510=)
12	g.5045676T>A	CA383466677	KCNA5	c.1529T>A (p.Leu510Gln)
12	g.5045676T>C	CA383466679	KCNA5	c.1529T>C (p.Leu510Pro)
12	g.5045676T>G	CA383466678	KCNA5	c.1529T>G (p.Leu510Arg)
12	g.5045677G>A	CA478096106	KCNA5	c.1530G>A (p.Leu510=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045677G>C	CA478096107	KCNA5	c.1530G>C (p.Leu510=)
12	g.5045677G=	CA2013431335	KCNA5	c.1530G= (p.Leu510=)
12	g.5045677G>T	CA478096108	KCNA5	c.1530G>T (p.Leu510=)	dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045678C>A	CA383466680	KCNA5	c.1531C>A (p.Pro511Thr)
12	g.5045678C>G	CA383466681	KCNA5	c.1531C>G (p.Pro511Ala)
12	g.5045678C>T	CA383466682	KCNA5	c.1531C>T (p.Pro511Ser)
12	g.5045679C>A	CA383466683	KCNA5	c.1532C>A (p.Pro511His)
12	g.5045679C>G	CA383466684	KCNA5	c.1532C>G (p.Pro511Arg)
12	g.5045679C>T	CA383466685	KCNA5	c.1532C>T (p.Pro511Leu)
12	g.5045680T>A	CA478096112	KCNA5	c.1533T>A (p.Pro511=)
12	g.5045680T>C	CA478096113	KCNA5	c.1533T>C (p.Pro511=)	dbSNP
12	g.5045680T>G	CA478096114	KCNA5	c.1533T>G (p.Pro511=)
12	g.5045680T=	CA2013431336	KCNA5	c.1533T= (p.Pro511=)
12	g.5045681G>A	CA383466686	KCNA5	c.1534G>A (p.Val512Met)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045681G>C	CA383466687	KCNA5	c.1534G>C (p.Val512Leu)
12	g.5045681G=	CA2013431337	KCNA5	c.1534G= (p.Val512=)
12	g.5045681G>T	CA383466688	KCNA5	c.1534G>T (p.Val512Leu)
12	g.5045682T>A	CA383466689	KCNA5	c.1535T>A (p.Val512Glu)
12	g.5045682T>C	CA383466690	KCNA5	c.1535T>C (p.Val512Ala)
12	g.5045682T>G	CA383466691	KCNA5	c.1535T>G (p.Val512Gly)
12	g.5045683G>A	CA6399889	KCNA5	c.1536G>A (p.Val512=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045683G>C	CA478096115	KCNA5	c.1536G>C (p.Val512=)	COSMIC
12	g.5045683G=	CA2013431338	KCNA5	c.1536G= (p.Val512=)
12	g.5045683G>T	CA478096116	KCNA5	c.1536G>T (p.Val512=)
12	g.5045684C>A	CA383466694	KCNA5	c.1537C>A (p.Pro513Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045684C=	CA2013431339	KCNA5	c.1537C= (p.Pro513=)
12	g.5045684C>G	CA383466692	KCNA5	c.1537C>G (p.Pro513Ala)
12	g.5045684C>T	CA383466693	KCNA5	c.1537C>T (p.Pro513Ser)	dbSNP gnomAD v2 gnomAD v4
12	g.5045685C>A	CA383466695	KCNA5	c.1538C>A (p.Pro513His)
12	g.5045685C>G	CA383466696	KCNA5	c.1538C>G (p.Pro513Arg)
12	g.5045685C>T	CA383466697	KCNA5	c.1538C>T (p.Pro513Leu)
12	g.5045686C>A	CA478096118	KCNA5	c.1539C>A (p.Pro513=)
12	g.5045686C=	CA2013431340	KCNA5	c.1539C= (p.Pro513=)
12	g.5045686C>G	CA6399891	KCNA5	c.1539C>G (p.Pro513=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045686C>T	CA6399890	KCNA5	c.1539C>T (p.Pro513=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045687G>A	CA383466698	KCNA5	c.1540G>A (p.Val514Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045687G>C	CA383466699	KCNA5	c.1540G>C (p.Val514Leu)	COSMIC
12	g.5045687G=	CA2013431341	KCNA5	c.1540G= (p.Val514=)
12	g.5045687G>T	CA383466700	KCNA5	c.1540G>T (p.Val514Phe)	COSMIC
12	g.5045688del	CA2617209926	KCNA5	c.1541del (p.Val514AlafsTer?)	gnomAD v4
12	g.5045688T>A	CA383466701	KCNA5	c.1541T>A (p.Val514Asp)
12	g.5045688T>C	CA383466702	KCNA5	c.1541T>C (p.Val514Ala)
12	g.5045688T>G	CA383466703	KCNA5	c.1541T>G (p.Val514Gly)
12	g.5045689C>A	CA478096121	KCNA5	c.1542C>A (p.Val514=)
12	g.5045689C>G	CA478096122	KCNA5	c.1542C>G (p.Val514=)
12	g.5045689C>T	CA478096124	KCNA5	c.1542C>T (p.Val514=)
12	g.5045690A=	CA2013431342	KCNA5	c.1543A= (p.Ile515=)
12	g.5045690A>C	CA383466706	KCNA5	c.1543A>C (p.Ile515Leu)
12	g.5045690A>G	CA383466705	KCNA5	c.1543A>G (p.Ile515Val)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045690A>T	CA383466704	KCNA5	c.1543A>T (p.Ile515Phe)
12	g.5045691T>A	CA383466707	KCNA5	c.1544T>A (p.Ile515Asn)
12	g.5045691T>C	CA383466708	KCNA5	c.1544T>C (p.Ile515Thr)	dbSNP gnomAD v2 gnomAD v4
12	g.5045691T>G	CA383466709	KCNA5	c.1544T>G (p.Ile515Ser)
12	g.5045691T=	CA2013431343	KCNA5	c.1544T= (p.Ile515=)
12	g.5045692C>A	CA478096125	KCNA5	c.1545C>A (p.Ile515=)
12	g.5045692C=	CA2013431344	KCNA5	c.1545C= (p.Ile515=)
12	g.5045692C>G	CA383466710	KCNA5	c.1545C>G (p.Ile515Met)
12	g.5045692C>T	CA478096126	KCNA5	c.1545C>T (p.Ile515=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045693G>A	CA6399892	KCNA5	c.1546G>A (p.Val516Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045693G>C	CA383466711	KCNA5	c.1546G>C (p.Val516Leu)
12	g.5045693G=	CA2013431345	KCNA5	c.1546G= (p.Val516=)
12	g.5045693G>T	CA383466712	KCNA5	c.1546G>T (p.Val516Phe)
12	g.5045694T>A	CA383466713	KCNA5	c.1547T>A (p.Val516Asp)
12	g.5045694T>C	CA383466715	KCNA5	c.1547T>C (p.Val516Ala)
12	g.5045694T>G	CA383466714	KCNA5	c.1547T>G (p.Val516Gly)
12	g.5045696_5045697del	CA2617209927	KCNA5	c.1549_1550del (p.Ser517GlnfsTer19)	gnomAD v4
12	g.5045695C>A	CA478096129	KCNA5	c.1548C>A (p.Val516=)
12	g.5045695C=	CA2013431346	KCNA5	c.1548C= (p.Val516=)
12	g.5045695C>G	CA6399893	KCNA5	c.1548C>G (p.Val516=)	dbSNP ExAC gnomAD v2
12	g.5045695C>T	CA478096128	KCNA5	c.1548C>T (p.Val516=)
12	g.5045696T>A	CA383466716	KCNA5	c.1549T>A (p.Ser517Thr)	dbSNP
12	g.5045696T>C	CA383466717	KCNA5	c.1549T>C (p.Ser517Pro)
12	g.5045696T>G	CA383466718	KCNA5	c.1549T>G (p.Ser517Ala)
12	g.5045697C>A	CA383466719	KCNA5	c.1550C>A (p.Ser517Tyr)
12	g.5045697C>G	CA383466721	KCNA5	c.1550C>G (p.Ser517Cys)	gnomAD v4
12	g.5045697C>T	CA383466720	KCNA5	c.1550C>T (p.Ser517Phe)

Number of alleles fetched