Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
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)
12	g.5045698C>A	CA478096130	KCNA5	c.1551C>A (p.Ser517=)
12	g.5045698C>G	CA478096131	KCNA5	c.1551C>G (p.Ser517=)
12	g.5045698C>T	CA478096132	KCNA5	c.1551C>T (p.Ser517=)
12	g.5045699A>C	CA383466722	KCNA5	c.1552A>C (p.Asn518His)
12	g.5045699A>G	CA383466723	KCNA5	c.1552A>G (p.Asn518Asp)
12	g.5045699A>T	CA383466724	KCNA5	c.1552A>T (p.Asn518Tyr)
12	g.5045700A>C	CA383466725	KCNA5	c.1553A>C (p.Asn518Thr)
12	g.5045700A>G	CA383466726	KCNA5	c.1553A>G (p.Asn518Ser)
12	g.5045700A>T	CA383466727	KCNA5	c.1553A>T (p.Asn518Ile)
12	g.5045701C>A	CA383466728	KCNA5	c.1554C>A (p.Asn518Lys)
12	g.5045701C>G	CA383466729	KCNA5	c.1554C>G (p.Asn518Lys)	gnomAD v4
12	g.5045701C>T	CA478096134	KCNA5	c.1554C>T (p.Asn518=)
12	g.5045701dup	CA2499221726	KCNA5	c.1554dup (p.Phe519LeufsTer18)	ClinVar dbSNP
12	g.5045702T>A	CA383466730	KCNA5	c.1555T>A (p.Phe519Ile)
12	g.5045702T>C	CA383466731	KCNA5	c.1555T>C (p.Phe519Leu)	gnomAD v4
12	g.5045702T>G	CA383466732	KCNA5	c.1555T>G (p.Phe519Val)
12	g.5045703T>A	CA383466735	KCNA5	c.1556T>A (p.Phe519Tyr)
12	g.5045703T>C	CA383466734	KCNA5	c.1556T>C (p.Phe519Ser)
12	g.5045703T>G	CA383466733	KCNA5	c.1556T>G (p.Phe519Cys)	dbSNP gnomAD v2 gnomAD v4
12	g.5045703T=	CA2013431347	KCNA5	c.1556T= (p.Phe519=)
12	g.5045704C>A	CA383466736	KCNA5	c.1557C>A (p.Phe519Leu)
12	g.5045704C>G	CA383466737	KCNA5	c.1557C>G (p.Phe519Leu)
12	g.5045704C>T	CA478096135	KCNA5	c.1557C>T (p.Phe519=)	COSMIC
12	g.5045705A=	CA2013431348	KCNA5	c.1558A= (p.Asn520=)
12	g.5045705A>C	CA383466738	KCNA5	c.1558A>C (p.Asn520His)	dbSNP
12	g.5045705A>G	CA383466740	KCNA5	c.1558A>G (p.Asn520Asp)
12	g.5045705A>T	CA383466739	KCNA5	c.1558A>T (p.Asn520Tyr)
12	g.5045706A>C	CA383466741	KCNA5	c.1559A>C (p.Asn520Thr)
12	g.5045706A>G	CA383466743	KCNA5	c.1559A>G (p.Asn520Ser)	gnomAD v4
12	g.5045706A>T	CA383466742	KCNA5	c.1559A>T (p.Asn520Ile)
12	g.5045707C>A	CA383466744	KCNA5	c.1560C>A (p.Asn520Lys)
12	g.5045707C>G	CA383466745	KCNA5	c.1560C>G (p.Asn520Lys)
12	g.5045707C>T	CA478096136	KCNA5	c.1560C>T (p.Asn520=)
12	g.5045708T>A	CA383466746	KCNA5	c.1561T>A (p.Tyr521Asn)	COSMIC
12	g.5045708T>C	CA383466748	KCNA5	c.1561T>C (p.Tyr521His)
12	g.5045708T>G	CA383466747	KCNA5	c.1561T>G (p.Tyr521Asp)
12	g.5045709A=	CA2013431349	KCNA5	c.1562A= (p.Tyr521=)
12	g.5045709A>C	CA383466749	KCNA5	c.1562A>C (p.Tyr521Ser)	gnomAD v4
12	g.5045709A>G	CA383466750	KCNA5	c.1562A>G (p.Tyr521Cys)	dbSNP gnomAD v2 gnomAD v4
12	g.5045709A>T	CA383466751	KCNA5	c.1562A>T (p.Tyr521Phe)
12	g.5045710C>A	CA383466752	KCNA5	c.1563C>A (p.Tyr521Ter)
12	g.5045710C=	CA2013431350	KCNA5	c.1563C= (p.Tyr521=)
12	g.5045710C>G	CA383466753	KCNA5	c.1563C>G (p.Tyr521Ter)	gnomAD v4
12	g.5045710C>T	CA231869092	KCNA5	c.1563C>T (p.Tyr521=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045711T>A	CA383466754	KCNA5	c.1564T>A (p.Phe522Ile)
12	g.5045711T>C	CA383466755	KCNA5	c.1564T>C (p.Phe522Leu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045711T>G	CA383466756	KCNA5	c.1564T>G (p.Phe522Val)
12	g.5045711T=	CA2013431351	KCNA5	c.1564T= (p.Phe522=)
12	g.5045712T>A	CA383466757	KCNA5	c.1565T>A (p.Phe522Tyr)
12	g.5045712T>C	CA383466758	KCNA5	c.1565T>C (p.Phe522Ser)	ClinVar dbSNP
12	g.5045712T>G	CA383466759	KCNA5	c.1565T>G (p.Phe522Cys)	gnomAD v4
12	g.5045712T=	CA2013431352	KCNA5	c.1565T= (p.Phe522=)
12	g.5045713C>A	CA383466761	KCNA5	c.1566C>A (p.Phe522Leu)
12	g.5045713C=	CA2013431353	KCNA5	c.1566C= (p.Phe522=)
12	g.5045713C>G	CA383466760	KCNA5	c.1566C>G (p.Phe522Leu)
12	g.5045713C>T	CA478096139	KCNA5	c.1566C>T (p.Phe522=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045714T>A	CA383466762	KCNA5	c.1567T>A (p.Tyr523Asn)
12	g.5045714T>C	CA383466763	KCNA5	c.1567T>C (p.Tyr523His)
12	g.5045714T>G	CA383466764	KCNA5	c.1567T>G (p.Tyr523Asp)
12	g.5045715A>C	CA383466765	KCNA5	c.1568A>C (p.Tyr523Ser)
12	g.5045715A>G	CA383466766	KCNA5	c.1568A>G (p.Tyr523Cys)
12	g.5045715A>T	CA383466767	KCNA5	c.1568A>T (p.Tyr523Phe)
12	g.5045716C>A	CA383466768	KCNA5	c.1569C>A (p.Tyr523Ter)
12	g.5045716C>G	CA383466769	KCNA5	c.1569C>G (p.Tyr523Ter)
12	g.5045716C>T	CA478096141	KCNA5	c.1569C>T (p.Tyr523=)
12	g.5045717C>A	CA383466770	KCNA5	c.1570C>A (p.His524Asn)
12	g.5045717C=	CA2013431354	KCNA5	c.1570C= (p.His524=)
12	g.5045717C>G	CA383466771	KCNA5	c.1570C>G (p.His524Asp)
12	g.5045717C>T	CA383466772	KCNA5	c.1570C>T (p.His524Tyr)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045718A>C	CA383466774	KCNA5	c.1571A>C (p.His524Pro)
12	g.5045718A>G	CA383466775	KCNA5	c.1571A>G (p.His524Arg)
12	g.5045718A>T	CA383466773	KCNA5	c.1571A>T (p.His524Leu)
12	g.5045719C>A	CA383466776	KCNA5	c.1572C>A (p.His524Gln)
12	g.5045719C=	CA2013431355	KCNA5	c.1572C= (p.His524=)
12	g.5045719C>G	CA383466777	KCNA5	c.1572C>G (p.His524Gln)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045719C>T	CA478096149	KCNA5	c.1572C>T (p.His524=)
12	g.5045720C>A	CA478096154	KCNA5	c.1573C>A (p.Arg525=)	dbSNP gnomAD v4
12	g.5045720C=	CA2013431356	KCNA5	c.1573C= (p.Arg525=)
12	g.5045720C>G	CA383466778	KCNA5	c.1573C>G (p.Arg525Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.5045720C>T	CA6399894	KCNA5	c.1573C>T (p.Arg525Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045721G>A	CA383466779	KCNA5	c.1574G>A (p.Arg525Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045721G>C	CA383466780	KCNA5	c.1574G>C (p.Arg525Pro)	gnomAD v4
12	g.5045721G=	CA2013431357	KCNA5	c.1574G= (p.Arg525=)
12	g.5045721G>T	CA383466781	KCNA5	c.1574G>T (p.Arg525Leu)
12	g.5045722G>A	CA478096161	KCNA5	c.1575G>A (p.Arg525=)	gnomAD v4
12	g.5045722G>C	CA478096163	KCNA5	c.1575G>C (p.Arg525=)
12	g.5045722G>T	CA478096162	KCNA5	c.1575G>T (p.Arg525=)
12	g.5045723G>A	CA383466782	KCNA5	c.1576G>A (p.Glu526Lys)
12	g.5045723G>C	CA231869097	KCNA5	c.1576G>C (p.Glu526Gln)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045723G=	CA2013431358	KCNA5	c.1576G= (p.Glu526=)
12	g.5045723G>T	CA383466783	KCNA5	c.1576G>T (p.Glu526Ter)
12	g.5045724A>C	CA383466784	KCNA5	c.1577A>C (p.Glu526Ala)
12	g.5045724A>G	CA383466785	KCNA5	c.1577A>G (p.Glu526Gly)	COSMIC
12	g.5045724A>T	CA383466786	KCNA5	c.1577A>T (p.Glu526Val)
12	g.5045725A=	CA2013431359	KCNA5	c.1578A= (p.Glu526=)
12	g.5045725A>C	CA383466788	KCNA5	c.1578A>C (p.Glu526Asp)	ClinVar
12	g.5045725A>G	CA6399895	KCNA5	c.1578A>G (p.Glu526=)	dbSNP ExAC gnomAD v2
12	g.5045725A>T	CA383466787	KCNA5	c.1578A>T (p.Glu526Asp)	COSMIC
12	g.5045726A>C	CA383466789	KCNA5	c.1579A>C (p.Thr527Pro)
12	g.5045726A>G	CA383466790	KCNA5	c.1579A>G (p.Thr527Ala)	ClinVar dbSNP gnomAD v4
12	g.5045726A>T	CA383466791	KCNA5	c.1579A>T (p.Thr527Ser)
12	g.5045727C>A	CA383466792	KCNA5	c.1580C>A (p.Thr527Lys)	COSMIC
12	g.5045727C=	CA2013431360	KCNA5	c.1580C= (p.Thr527=)
12	g.5045727C>G	CA383466793	KCNA5	c.1580C>G (p.Thr527Arg)
12	g.5045727C>T	CA123124	KCNA5	c.1580C>T (p.Thr527Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045728G>A	CA6399896	KCNA5	c.1581G>A (p.Thr527=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045728G>C	CA478096178	KCNA5	c.1581G>C (p.Thr527=)
12	g.5045728G=	CA2013431361	KCNA5	c.1581G= (p.Thr527=)
12	g.5045728G>T	CA478096176	KCNA5	c.1581G>T (p.Thr527=)	COSMIC
12	g.5045729G>A	CA383466794	KCNA5	c.1582G>A (p.Asp528Asn)	COSMIC
12	g.5045729G>C	CA383466795	KCNA5	c.1582G>C (p.Asp528His)
12	g.5045729G>T	CA383466796	KCNA5	c.1582G>T (p.Asp528Tyr)
12	g.5045730A>C	CA383466797	KCNA5	c.1583A>C (p.Asp528Ala)
12	g.5045730A>G	CA383466798	KCNA5	c.1583A>G (p.Asp528Gly)
12	g.5045730A>T	CA383466799	KCNA5	c.1583A>T (p.Asp528Val)
12	g.5045731T>A	CA383466801	KCNA5	c.1584T>A (p.Asp528Glu)
12	g.5045731T>C	CA478096183	KCNA5	c.1584T>C (p.Asp528=)
12	g.5045731T>G	CA383466800	KCNA5	c.1584T>G (p.Asp528Glu)
12	g.5045732C>A	CA383466802	KCNA5	c.1585C>A (p.His529Asn)	gnomAD v4
12	g.5045732C>G	CA383466804	KCNA5	c.1585C>G (p.His529Asp)
12	g.5045732C>T	CA383466803	KCNA5	c.1585C>T (p.His529Tyr)
12	g.5045733A=	CA2013431362	KCNA5	c.1586A= (p.His529=)
12	g.5045733A>C	CA383466805	KCNA5	c.1586A>C (p.His529Pro)	dbSNP gnomAD v4
12	g.5045733A>G	CA383466806	KCNA5	c.1586A>G (p.His529Arg)
12	g.5045733A>T	CA383466807	KCNA5	c.1586A>T (p.His529Leu)
12	g.5045734C>A	CA383466808	KCNA5	c.1587C>A (p.His529Gln)	COSMIC
12	g.5045734C=	CA2013431363	KCNA5	c.1587C= (p.His529=)
12	g.5045734C>G	CA383466809	KCNA5	c.1587C>G (p.His529Gln)	gnomAD v4
12	g.5045734C>T	CA6399897	KCNA5	c.1587C>T (p.His529=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045735G>A	CA231869110	KCNA5	c.1588G>A (p.Glu530Lys)	ClinVar dbSNP gnomAD v4
12	g.5045735G>C	CA231869109	KCNA5	c.1588G>C (p.Glu530Gln)	dbSNP gnomAD v3 gnomAD v4
12	g.5045735G=	CA2013431364	KCNA5	c.1588G= (p.Glu530=)
12	g.5045735G>T	CA383466810	KCNA5	c.1588G>T (p.Glu530Ter)	ClinVar dbSNP
12	g.5045736A>C	CA383466811	KCNA5	c.1589A>C (p.Glu530Ala)
12	g.5045736A>G	CA383466812	KCNA5	c.1589A>G (p.Glu530Gly)
12	g.5045736A>T	CA383466813	KCNA5	c.1589A>T (p.Glu530Val)

Number of alleles fetched