Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045696_5045697del	CA2617209927	KCNA5	c.1549_1550del (p.Ser517GlnfsTer19)	gnomAD v4
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)
12	g.5045737G>A	CA478096192	KCNA5	c.1590G>A (p.Glu530=)	dbSNP gnomAD v4
12	g.5045737G>C	CA383466814	KCNA5	c.1590G>C (p.Glu530Asp)
12	g.5045737G=	CA2013431365	KCNA5	c.1590G= (p.Glu530=)
12	g.5045737G>T	CA383466815	KCNA5	c.1590G>T (p.Glu530Asp)
12	g.5045738G>A	CA383466816	KCNA5	c.1591G>A (p.Glu531Lys)
12	g.5045738G>C	CA383466818	KCNA5	c.1591G>C (p.Glu531Gln)	gnomAD v4
12	g.5045738G>T	CA383466817	KCNA5	c.1591G>T (p.Glu531Ter)
12	g.5045739A>C	CA383466819	KCNA5	c.1592A>C (p.Glu531Ala)
12	g.5045739A>G	CA383466820	KCNA5	c.1592A>G (p.Glu531Gly)	gnomAD v4
12	g.5045739A>T	CA383466821	KCNA5	c.1592A>T (p.Glu531Val)
12	g.5045740G>A	CA478096197	KCNA5	c.1593G>A (p.Glu531=)
12	g.5045740G>C	CA383466822	KCNA5	c.1593G>C (p.Glu531Asp)
12	g.5045740G>T	CA383466823	KCNA5	c.1593G>T (p.Glu531Asp)
12	g.5045741C>A	CA383466824	KCNA5	c.1594C>A (p.Pro532Thr)
12	g.5045741C>G	CA383466825	KCNA5	c.1594C>G (p.Pro532Ala)
12	g.5045741C>T	CA383466826	KCNA5	c.1594C>T (p.Pro532Ser)
12	g.5045742C>A	CA383466827	KCNA5	c.1595C>A (p.Pro532Gln)
12	g.5045742C=	CA2013431366	KCNA5	c.1595C= (p.Pro532=)
12	g.5045742C>G	CA383466828	KCNA5	c.1595C>G (p.Pro532Arg)
12	g.5045742C>T	CA6399898	KCNA5	c.1595C>T (p.Pro532Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045743G>A	CA6399899	KCNA5	c.1596G>A (p.Pro532=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045743G>C	CA478096207	KCNA5	c.1596G>C (p.Pro532=)
12	g.5045743G=	CA2013431367	KCNA5	c.1596G= (p.Pro532=)
12	g.5045743G>T	CA478096208	KCNA5	c.1596G>T (p.Pro532=)	COSMIC
12	g.5045744G>A	CA383466830	KCNA5	c.1597G>A (p.Ala533Thr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045744G>C	CA383466829	KCNA5	c.1597G>C (p.Ala533Pro)
12	g.5045744G=	CA2013431368	KCNA5	c.1597G= (p.Ala533=)
12	g.5045744G>T	CA6399900	KCNA5	c.1597G>T (p.Ala533Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045745C>A	CA383466831	KCNA5	c.1598C>A (p.Ala533Glu)	COSMIC
12	g.5045745C=	CA2013431369	KCNA5	c.1598C= (p.Ala533=)
12	g.5045745C>G	CA383466832	KCNA5	c.1598C>G (p.Ala533Gly)
12	g.5045745C>T	CA231869127	KCNA5	c.1598C>T (p.Ala533Val)	dbSNP gnomAD v4 COSMIC
12	g.5045746A=	CA2013431370	KCNA5	c.1599A= (p.Ala533=)
12	g.5045746A>C	CA231869131	KCNA5	c.1599A>C (p.Ala533=)	dbSNP
12	g.5045746A>G	CA478095764	KCNA5	c.1599A>G (p.Ala533=)
12	g.5045746A>T	CA478095763	KCNA5	c.1599A>T (p.Ala533=)
12	g.5045747G>A	CA383466835	KCNA5	c.1600G>A (p.Val534Ile)
12	g.5045747G>C	CA383466834	KCNA5	c.1600G>C (p.Val534Leu)	gnomAD v4
12	g.5045747G>T	CA383466833	KCNA5	c.1600G>T (p.Val534Phe)
12	g.5045748T>A	CA383466836	KCNA5	c.1601T>A (p.Val534Asp)
12	g.5045748T>C	CA6399901	KCNA5	c.1601T>C (p.Val534Ala)	dbSNP ExAC gnomAD v2
12	g.5045748T>G	CA383466837	KCNA5	c.1601T>G (p.Val534Gly)	COSMIC
12	g.5045748T=	CA2013431371	KCNA5	c.1601T= (p.Val534=)
12	g.5045749C>A	CA478095766	KCNA5	c.1602C>A (p.Val534=)
12	g.5045749C>G	CA478095767	KCNA5	c.1602C>G (p.Val534=)
12	g.5045749C>T	CA478095768	KCNA5	c.1602C>T (p.Val534=)	gnomAD v4
12	g.5045750C>A	CA383466838	KCNA5	c.1603C>A (p.Leu535Ile)
12	g.5045750C>G	CA383466839	KCNA5	c.1603C>G (p.Leu535Val)
12	g.5045750C>T	CA383466840	KCNA5	c.1603C>T (p.Leu535Phe)	gnomAD v4 COSMIC
12	g.5045751T>A	CA383466841	KCNA5	c.1604T>A (p.Leu535His)
12	g.5045751T>C	CA383466843	KCNA5	c.1604T>C (p.Leu535Pro)
12	g.5045751T>G	CA383466842	KCNA5	c.1604T>G (p.Leu535Arg)	COSMIC
12	g.5045752T>A	CA478095769	KCNA5	c.1605T>A (p.Leu535=)
12	g.5045752T>C	CA478095771	KCNA5	c.1605T>C (p.Leu535=)
12	g.5045752T>G	CA478095770	KCNA5	c.1605T>G (p.Leu535=)
12	g.5045753A=	CA2013431372	KCNA5	c.1606A= (p.Lys536=)
12	g.5045753A>C	CA383466844	KCNA5	c.1606A>C (p.Lys536Gln)
12	g.5045753A>G	CA231869137	KCNA5	c.1606A>G (p.Lys536Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045753A>T	CA383466845	KCNA5	c.1606A>T (p.Lys536Ter)	dbSNP gnomAD v4
12	g.5045754A>C	CA383466846	KCNA5	c.1607A>C (p.Lys536Thr)
12	g.5045754A>G	CA383466847	KCNA5	c.1607A>G (p.Lys536Arg)	gnomAD v4
12	g.5045754A>T	CA383466848	KCNA5	c.1607A>T (p.Lys536Met)
12	g.5045755G>A	CA478095772	KCNA5	c.1608G>A (p.Lys536=)	ClinVar dbSNP gnomAD v3 gnomAD v4
12	g.5045755G>C	CA383466849	KCNA5	c.1608G>C (p.Lys536Asn)
12	g.5045755G=	CA2013431373	KCNA5	c.1608G= (p.Lys536=)
12	g.5045755G>T	CA383466850	KCNA5	c.1608G>T (p.Lys536Asn)
12	g.5045756G>A	CA6399902	KCNA5	c.1609G>A (p.Glu537Lys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045756G>C	CA383466851	KCNA5	c.1609G>C (p.Glu537Gln)
12	g.5045756G=	CA2013431374	KCNA5	c.1609G= (p.Glu537=)
12	g.5045756G>T	CA383466852	KCNA5	c.1609G>T (p.Glu537Ter)
12	g.5045757A>C	CA383466853	KCNA5	c.1610A>C (p.Glu537Ala)
12	g.5045757A>G	CA383466855	KCNA5	c.1610A>G (p.Glu537Gly)
12	g.5045757A>T	CA383466854	KCNA5	c.1610A>T (p.Glu537Val)
12	g.5045758A=	CA2013431375	KCNA5	c.1611A= (p.Glu537=)
12	g.5045758A>C	CA383466856	KCNA5	c.1611A>C (p.Glu537Asp)
12	g.5045758A>G	CA6399903	KCNA5	c.1611A>G (p.Glu537=)	dbSNP ExAC gnomAD v2
12	g.5045758A>T	CA383466857	KCNA5	c.1611A>T (p.Glu537Asp)
12	g.5045759G>A	CA383466858	KCNA5	c.1612G>A (p.Glu538Lys)	COSMIC
12	g.5045759G>C	CA231869167	KCNA5	c.1612G>C (p.Glu538Gln)	ClinVar dbSNP gnomAD v4
12	g.5045759G=	CA2013431376	KCNA5	c.1612G= (p.Glu538=)
12	g.5045759G>T	CA383466859	KCNA5	c.1612G>T (p.Glu538Ter)
12	g.5045760A>C	CA383466860	KCNA5	c.1613A>C (p.Glu538Ala)
12	g.5045760A>G	CA383466861	KCNA5	c.1613A>G (p.Glu538Gly)
12	g.5045760A>T	CA383466862	KCNA5	c.1613A>T (p.Glu538Val)
12	g.5045761G>A	CA478095777	KCNA5	c.1614G>A (p.Glu538=)	COSMIC
12	g.5045761G>C	CA383466863	KCNA5	c.1614G>C (p.Glu538Asp)
12	g.5045761G>T	CA383466864	KCNA5	c.1614G>T (p.Glu538Asp)
12	g.5045762C>A	CA383466865	KCNA5	c.1615C>A (p.Gln539Lys)
12	g.5045762C>G	CA383466866	KCNA5	c.1615C>G (p.Gln539Glu)
12	g.5045762C>T	CA383466867	KCNA5	c.1615C>T (p.Gln539Ter)	gnomAD v4
12	g.5045763A>C	CA383466870	KCNA5	c.1616A>C (p.Gln539Pro)
12	g.5045763A>G	CA383466869	KCNA5	c.1616A>G (p.Gln539Arg)
12	g.5045763A>T	CA383466868	KCNA5	c.1616A>T (p.Gln539Leu)
12	g.5045764G>A	CA6399905	KCNA5	c.1617G>A (p.Gln539=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045764G>C	CA383466871	KCNA5	c.1617G>C (p.Gln539His)
12	g.5045764G=	CA2013431377	KCNA5	c.1617G= (p.Gln539=)
12	g.5045764G>T	CA383466872	KCNA5	c.1617G>T (p.Gln539His)
12	g.5045764_5045765insTCCTTAAGGAGCCT	CA6399904	KCNA5	c.1617_1618insTCCTTAAGGAGCCT (p.Gly540SerfsTer?)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045765G>A	CA383466873	KCNA5	c.1618G>A (p.Gly540Ser)	dbSNP gnomAD v2
12	g.5045765G>C	CA383466874	KCNA5	c.1618G>C (p.Gly540Arg)
12	g.5045765G=	CA2013431378	KCNA5	c.1618G= (p.Gly540=)
12	g.5045765G>T	CA383466875	KCNA5	c.1618G>T (p.Gly540Cys)	COSMIC
12	g.5045766G>A	CA383466876	KCNA5	c.1619G>A (p.Gly540Asp)	ClinVar gnomAD v4 COSMIC
12	g.5045766G>C	CA383466877	KCNA5	c.1619G>C (p.Gly540Ala)	gnomAD v4
12	g.5045766G=	CA2013431379	KCNA5	c.1619G= (p.Gly540=)
12	g.5045766G>T	CA6399906	KCNA5	c.1619G>T (p.Gly540Val)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045767del	CA645578790	KCNA5	c.1620del (p.Thr541LeufsTer?)	COSMIC
12	g.5045767C>A	CA478095782	KCNA5	c.1620C>A (p.Gly540=)	gnomAD v4
12	g.5045767C=	CA2013431380	KCNA5	c.1620C= (p.Gly540=)
12	g.5045767C>G	CA6399907	KCNA5	c.1620C>G (p.Gly540=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045767C>T	CA478095783	KCNA5	c.1620C>T (p.Gly540=)	dbSNP gnomAD v4
12	g.5045768A>C	CA383466878	KCNA5	c.1621A>C (p.Thr541Pro)
12	g.5045768A>G	CA383466879	KCNA5	c.1621A>G (p.Thr541Ala)
12	g.5045768A>T	CA383466880	KCNA5	c.1621A>T (p.Thr541Ser)
12	g.5045769C>A	CA383466881	KCNA5	c.1622C>A (p.Thr541Asn)
12	g.5045769C=	CA2013431381	KCNA5	c.1622C= (p.Thr541=)
12	g.5045769C>G	CA383466882	KCNA5	c.1622C>G (p.Thr541Ser)	dbSNP gnomAD v4
12	g.5045769C>T	CA6399908	KCNA5	c.1622C>T (p.Thr541Ile)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045770T>A	CA478095784	KCNA5	c.1623T>A (p.Thr541=)
12	g.5045770T>C	CA478095786	KCNA5	c.1623T>C (p.Thr541=)	gnomAD v4
12	g.5045770T>G	CA478095785	KCNA5	c.1623T>G (p.Thr541=)
12	g.5045771C>A	CA383466883	KCNA5	c.1624C>A (p.Gln542Lys)	COSMIC
12	g.5045771C>G	CA383466884	KCNA5	c.1624C>G (p.Gln542Glu)
12	g.5045771C>T	CA383466885	KCNA5	c.1624C>T (p.Gln542Ter)
12	g.5045772A>C	CA383466886	KCNA5	c.1625A>C (p.Gln542Pro)
12	g.5045772A>G	CA383466887	KCNA5	c.1625A>G (p.Gln542Arg)
12	g.5045772A>T	CA383466888	KCNA5	c.1625A>T (p.Gln542Leu)
12	g.5045773G>A	CA478095787	KCNA5	c.1626G>A (p.Gln542=)	gnomAD v4
12	g.5045773G>C	CA383466889	KCNA5	c.1626G>C (p.Gln542His)	gnomAD v4
12	g.5045773G=	CA2013431382	KCNA5	c.1626G= (p.Gln542=)
12	g.5045773G>T	CA231869181	KCNA5	c.1626G>T (p.Gln542His)	dbSNP gnomAD v3 gnomAD v4
12	g.5045774A=	CA2013431383	KCNA5	c.1627A= (p.Ser543=)
12	g.5045774A>C	CA383466890	KCNA5	c.1627A>C (p.Ser543Arg)
12	g.5045774A>G	CA383466891	KCNA5	c.1627A>G (p.Ser543Gly)	dbSNP
12	g.5045774A>T	CA383466892	KCNA5	c.1627A>T (p.Ser543Cys)
12	g.5045775G>A	CA6399909	KCNA5	c.1628G>A (p.Ser543Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045775G>C	CA383466893	KCNA5	c.1628G>C (p.Ser543Thr)
12	g.5045775G=	CA2013431384	KCNA5	c.1628G= (p.Ser543=)
12	g.5045775G>T	CA383466894	KCNA5	c.1628G>T (p.Ser543Ile)
12	g.5045776C>A	CA383466895	KCNA5	c.1629C>A (p.Ser543Arg)
12	g.5045776C>G	CA383466896	KCNA5	c.1629C>G (p.Ser543Arg)
12	g.5045776C>T	CA478095788	KCNA5	c.1629C>T (p.Ser543=)
12	g.5045777C>A	CA383466897	KCNA5	c.1630C>A (p.Gln544Lys)
12	g.5045777C>G	CA383466898	KCNA5	c.1630C>G (p.Gln544Glu)
12	g.5045777C>T	CA383466899	KCNA5	c.1630C>T (p.Gln544Ter)
12	g.5045778A=	CA2013431385	KCNA5	c.1631A= (p.Gln544=)
12	g.5045778A>C	CA383466900	KCNA5	c.1631A>C (p.Gln544Pro)	dbSNP gnomAD v2 gnomAD v4
12	g.5045778A>G	CA383466901	KCNA5	c.1631A>G (p.Gln544Arg)	gnomAD v4 COSMIC
12	g.5045778A>T	CA383466902	KCNA5	c.1631A>T (p.Gln544Leu)
12	g.5045779G>A	CA478095789	KCNA5	c.1632G>A (p.Gln544=)	gnomAD v4
12	g.5045779G>C	CA383466903	KCNA5	c.1632G>C (p.Gln544His)
12	g.5045779G>T	CA383466904	KCNA5	c.1632G>T (p.Gln544His)
12	g.5045780G>A	CA383466905	KCNA5	c.1633G>A (p.Gly545Arg)
12	g.5045780G>C	CA383466906	KCNA5	c.1633G>C (p.Gly545Arg)	gnomAD v4
12	g.5045780G>T	CA383466907	KCNA5	c.1633G>T (p.Gly545Trp)
12	g.5045781G>A	CA6399910	KCNA5	c.1634G>A (p.Gly545Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045781G>C	CA383466909	KCNA5	c.1634G>C (p.Gly545Ala)
12	g.5045781G=	CA2013431386	KCNA5	c.1634G= (p.Gly545=)
12	g.5045781G>T	CA383466908	KCNA5	c.1634G>T (p.Gly545Val)
12	g.5045782G>A	CA478095790	KCNA5	c.1635G>A (p.Gly545=)
12	g.5045782G>C	CA231869198	KCNA5	c.1635G>C (p.Gly545=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045782G=	CA2013431387	KCNA5	c.1635G= (p.Gly545=)
12	g.5045782G>T	CA478095791	KCNA5	c.1635G>T (p.Gly545=)
12	g.5045783C>A	CA383466911	KCNA5	c.1636C>A (p.Pro546Thr)	dbSNP gnomAD v4
12	g.5045783C=	CA2013431388	KCNA5	c.1636C= (p.Pro546=)
12	g.5045783C>G	CA383466910	KCNA5	c.1636C>G (p.Pro546Ala)	gnomAD v4
12	g.5045783C>T	CA6399911	KCNA5	c.1636C>T (p.Pro546Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045784C>A	CA383466912	KCNA5	c.1637C>A (p.Pro546Gln)	dbSNP gnomAD v4
12	g.5045784C=	CA2013431389	KCNA5	c.1637C= (p.Pro546=)
12	g.5045784C>G	CA383466913	KCNA5	c.1637C>G (p.Pro546Arg)
12	g.5045784C>T	CA231869210	KCNA5	c.1637C>T (p.Pro546Leu)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045785G>A	CA231869219	KCNA5	c.1638G>A (p.Pro546=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045785G>C	CA478095792	KCNA5	c.1638G>C (p.Pro546=)
12	g.5045785G=	CA2013431390	KCNA5	c.1638G= (p.Pro546=)
12	g.5045785G>T	CA478095793	KCNA5	c.1638G>T (p.Pro546=)
12	g.5045786G>A	CA383466914	KCNA5	c.1639G>A (p.Gly547Arg)	gnomAD v4
12	g.5045786G>C	CA383466915	KCNA5	c.1639G>C (p.Gly547Arg)
12	g.5045786G>T	CA383466916	KCNA5	c.1639G>T (p.Gly547Trp)
12	g.5045787G>A	CA383466917	KCNA5	c.1640G>A (p.Gly547Glu)	dbSNP gnomAD v4
12	g.5045787G>C	CA383466918	KCNA5	c.1640G>C (p.Gly547Ala)
12	g.5045787G=	CA2013431391	KCNA5	c.1640G= (p.Gly547=)
12	g.5045787G>T	CA383466919	KCNA5	c.1640G>T (p.Gly547Val)
12	g.5045788G>A	CA478095795	KCNA5	c.1641G>A (p.Gly547=)	ClinVar dbSNP gnomAD v2 gnomAD v4
12	g.5045788G>C	CA478095796	KCNA5	c.1641G>C (p.Gly547=)
12	g.5045788G=	CA2013431392	KCNA5	c.1641G= (p.Gly547=)
12	g.5045788G>T	CA478095797	KCNA5	c.1641G>T (p.Gly547=)	ClinVar dbSNP gnomAD v4
12	g.5045789C>A	CA383466920	KCNA5	c.1642C>A (p.Leu548Met)
12	g.5045789C>G	CA383466921	KCNA5	c.1642C>G (p.Leu548Val)	gnomAD v4
12	g.5045789C>T	CA478095799	KCNA5	c.1642C>T (p.Leu548=)
12	g.5045790T>A	CA383466922	KCNA5	c.1643T>A (p.Leu548Gln)
12	g.5045790T>C	CA6399912	KCNA5	c.1643T>C (p.Leu548Pro)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045790T>G	CA383466923	KCNA5	c.1643T>G (p.Leu548Arg)	gnomAD v4
12	g.5045790T=	CA2013431393	KCNA5	c.1643T= (p.Leu548=)
12	g.5045791G>A	CA231869235	KCNA5	c.1644G>A (p.Leu548=)	dbSNP gnomAD v3 gnomAD v4 COSMIC
12	g.5045791G>C	CA478095800	KCNA5	c.1644G>C (p.Leu548=)
12	g.5045791G=	CA2013431394	KCNA5	c.1644G= (p.Leu548=)
12	g.5045791G>T	CA478095802	KCNA5	c.1644G>T (p.Leu548=)
12	g.5045792G>A	CA383466924	KCNA5	c.1645G>A (p.Asp549Asn)	dbSNP COSMIC
12	g.5045792G>C	CA383466925	KCNA5	c.1645G>C (p.Asp549His)
12	g.5045792G=	CA2013431395	KCNA5	c.1645G= (p.Asp549=)
12	g.5045792G>T	CA383466926	KCNA5	c.1645G>T (p.Asp549Tyr)
12	g.5045793A>C	CA383466927	KCNA5	c.1646A>C (p.Asp549Ala)
12	g.5045793A>G	CA383466928	KCNA5	c.1646A>G (p.Asp549Gly)
12	g.5045793A>T	CA383466929	KCNA5	c.1646A>T (p.Asp549Val)
12	g.5045794C>A	CA383466930	KCNA5	c.1647C>A (p.Asp549Glu)
12	g.5045794C>G	CA383466931	KCNA5	c.1647C>G (p.Asp549Glu)	gnomAD v4
12	g.5045794C>T	CA478095805	KCNA5	c.1647C>T (p.Asp549=)	gnomAD v4
12	g.5045795A=	CA2013431396	KCNA5	c.1648A= (p.Arg550=)
12	g.5045795A>C	CA478095807	KCNA5	c.1648A>C (p.Arg550=)
12	g.5045795A>G	CA231869237	KCNA5	c.1648A>G (p.Arg550Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.5045795A>T	CA383466932	KCNA5	c.1648A>T (p.Arg550Ter)
12	g.5045796G>A	CA383466935	KCNA5	c.1649G>A (p.Arg550Lys)	gnomAD v4
12	g.5045796G>C	CA383466934	KCNA5	c.1649G>C (p.Arg550Thr)	COSMIC
12	g.5045796G>T	CA383466933	KCNA5	c.1649G>T (p.Arg550Ile)

Number of alleles fetched