Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
12	g.5045887C>A	CA383467115	KCNA5	c.1740C>A (p.Ser580Arg)
12	g.5045887C=	CA2013431448	KCNA5	c.1740C= (p.Ser580=)
12	g.5045887C>G	CA383467116	KCNA5	c.1740C>G (p.Ser580Arg)
12	g.5045887C>T	CA6399939	KCNA5	c.1740C>T (p.Ser580=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045888T>A	CA383467117	KCNA5	c.1741T>A (p.Cys581Ser)
12	g.5045888T>C	CA383467118	KCNA5	c.1741T>C (p.Cys581Arg)
12	g.5045888T>G	CA383467119	KCNA5	c.1741T>G (p.Cys581Gly)
12	g.5045889G>A	CA383467122	KCNA5	c.1742G>A (p.Cys581Tyr)	dbSNP gnomAD v3 gnomAD v4
12	g.5045889G>C	CA383467121	KCNA5	c.1742G>C (p.Cys581Ser)
12	g.5045889G=	CA2013431449	KCNA5	c.1742G= (p.Cys581=)
12	g.5045889G>T	CA383467120	KCNA5	c.1742G>T (p.Cys581Phe)
12	g.5045890C>A	CA383467123	KCNA5	c.1743C>A (p.Cys581Ter)
12	g.5045890C=	CA2013431450	KCNA5	c.1743C= (p.Cys581=)
12	g.5045890C>G	CA383467124	KCNA5	c.1743C>G (p.Cys581Trp)
12	g.5045890C>T	CA478095904	KCNA5	c.1743C>T (p.Cys581=)	dbSNP gnomAD v3 gnomAD v4
12	g.5045894del	CA2617209928	KCNA5	c.1747del (p.Leu583Ter)	gnomAD v4
12	g.5045891C>A	CA6399940	KCNA5	c.1744C>A (p.Pro582Thr)	ClinVar dbSNP ExAC gnomAD v3 gnomAD v4
12	g.5045891C=	CA2013431451	KCNA5	c.1744C= (p.Pro582=)
12	g.5045891C>G	CA383467125	KCNA5	c.1744C>G (p.Pro582Ala)	gnomAD v4
12	g.5045891C>T	CA383467126	KCNA5	c.1744C>T (p.Pro582Ser)	gnomAD v4
12	g.5045892C>A	CA383467127	KCNA5	c.1745C>A (p.Pro582His)
12	g.5045892C=	CA2013431452	KCNA5	c.1745C= (p.Pro582=)
12	g.5045892C>G	CA383467128	KCNA5	c.1745C>G (p.Pro582Arg)	dbSNP gnomAD v2 gnomAD v4
12	g.5045892C>T	CA383467129	KCNA5	c.1745C>T (p.Pro582Leu)	COSMIC
12	g.5045893C>A	CA478095905	KCNA5	c.1746C>A (p.Pro582=)	ClinVar
12	g.5045893C>G	CA478095906	KCNA5	c.1746C>G (p.Pro582=)	gnomAD v4
12	g.5045893C>T	CA478095907	KCNA5	c.1746C>T (p.Pro582=)	ClinVar gnomAD v4
12	g.5045894C>A	CA383467130	KCNA5	c.1747C>A (p.Leu583Ile)	gnomAD v4
12	g.5045894C>G	CA383467131	KCNA5	c.1747C>G (p.Leu583Val)
12	g.5045894C>T	CA478095908	KCNA5	c.1747C>T (p.Leu583=)
12	g.5045895T>A	CA383467132	KCNA5	c.1748T>A (p.Leu583Gln)
12	g.5045895T>C	CA383467133	KCNA5	c.1748T>C (p.Leu583Pro)
12	g.5045895T>G	CA383467134	KCNA5	c.1748T>G (p.Leu583Arg)
12	g.5045896A=	CA2013431453	KCNA5	c.1749A= (p.Leu583=)
12	g.5045896A>C	CA478095914	KCNA5	c.1749A>C (p.Leu583=)
12	g.5045896A>G	CA478095916	KCNA5	c.1749A>G (p.Leu583=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045896A>T	CA478095917	KCNA5	c.1749A>T (p.Leu583=)	dbSNP
12	g.5045897G>A	CA231869366	KCNA5	c.1750G>A (p.Glu584Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045897G>C	CA6399941	KCNA5	c.1750G>C (p.Glu584Gln)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045897G=	CA2013431454	KCNA5	c.1750G= (p.Glu584=)
12	g.5045897G>T	CA383467135	KCNA5	c.1750G>T (p.Glu584Ter)	gnomAD v4
12	g.5045898A>C	CA383467136	KCNA5	c.1751A>C (p.Glu584Ala)
12	g.5045898A>G	CA383467137	KCNA5	c.1751A>G (p.Glu584Gly)
12	g.5045898A>T	CA383467138	KCNA5	c.1751A>T (p.Glu584Val)
12	g.5045899G>A	CA478095918	KCNA5	c.1752G>A (p.Glu584=)	COSMIC
12	g.5045899G>C	CA383467139	KCNA5	c.1752G>C (p.Glu584Asp)
12	g.5045899G>T	CA383467140	KCNA5	c.1752G>T (p.Glu584Asp)
12	g.5045900A>C	CA383467141	KCNA5	c.1753A>C (p.Lys585Gln)
12	g.5045900A>G	CA383467142	KCNA5	c.1753A>G (p.Lys585Glu)
12	g.5045900A>T	CA383467143	KCNA5	c.1753A>T (p.Lys585Ter)
12	g.5045901A>C	CA383467144	KCNA5	c.1754A>C (p.Lys585Thr)
12	g.5045901A>G	CA383467145	KCNA5	c.1754A>G (p.Lys585Arg)	COSMIC
12	g.5045901A>T	CA383467146	KCNA5	c.1754A>T (p.Lys585Met)
12	g.5045902G>A	CA478095925	KCNA5	c.1755G>A (p.Lys585=)	gnomAD v4
12	g.5045902G>C	CA383467147	KCNA5	c.1755G>C (p.Lys585Asn)	ClinVar gnomAD v4
12	g.5045902G>T	CA383467148	KCNA5	c.1755G>T (p.Lys585Asn)	gnomAD v4
12	g.5045903T>A	CA383467150	KCNA5	c.1756T>A (p.Cys586Ser)
12	g.5045903T>C	CA383467151	KCNA5	c.1756T>C (p.Cys586Arg)
12	g.5045903T>G	CA383467149	KCNA5	c.1756T>G (p.Cys586Gly)	ClinVar dbSNP gnomAD v4
12	g.5045903T=	CA2013431455	KCNA5	c.1756T= (p.Cys586=)
12	g.5045904G>A	CA383467152	KCNA5	c.1757G>A (p.Cys586Tyr)
12	g.5045904G>C	CA383467153	KCNA5	c.1757G>C (p.Cys586Ser)
12	g.5045904G>T	CA383467154	KCNA5	c.1757G>T (p.Cys586Phe)
12	g.5045905T>A	CA383467155	KCNA5	c.1758T>A (p.Cys586Ter)
12	g.5045905T>C	CA478095926	KCNA5	c.1758T>C (p.Cys586=)
12	g.5045905T>G	CA383467156	KCNA5	c.1758T>G (p.Cys586Trp)
12	g.5045906A>C	CA383467157	KCNA5	c.1759A>C (p.Asn587His)
12	g.5045906A>G	CA383467158	KCNA5	c.1759A>G (p.Asn587Asp)
12	g.5045906A>T	CA383467159	KCNA5	c.1759A>T (p.Asn587Tyr)
12	g.5045907A>C	CA383467160	KCNA5	c.1760A>C (p.Asn587Thr)
12	g.5045907A>G	CA383467161	KCNA5	c.1760A>G (p.Asn587Ser)
12	g.5045907A>T	CA383467162	KCNA5	c.1760A>T (p.Asn587Ile)
12	g.5045908C>A	CA383467163	KCNA5	c.1761C>A (p.Asn587Lys)	gnomAD v4
12	g.5045908C=	CA2013431456	KCNA5	c.1761C= (p.Asn587=)
12	g.5045908C>G	CA383467164	KCNA5	c.1761C>G (p.Asn587Lys)	dbSNP
12	g.5045908C>T	CA478095930	KCNA5	c.1761C>T (p.Asn587=)	dbSNP gnomAD v2 gnomAD v4
12	g.5045909G>A	CA383467165	KCNA5	c.1762G>A (p.Val588Ile)	ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
12	g.5045909G>C	CA6399942	KCNA5	c.1762G>C (p.Val588Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045909G=	CA2013431457	KCNA5	c.1762G= (p.Val588=)
12	g.5045909G>T	CA383467166	KCNA5	c.1762G>T (p.Val588Phe)
12	g.5045910T>A	CA383467167	KCNA5	c.1763T>A (p.Val588Asp)	gnomAD v4
12	g.5045910T>C	CA383467168	KCNA5	c.1763T>C (p.Val588Ala)
12	g.5045910T>G	CA383467169	KCNA5	c.1763T>G (p.Val588Gly)
12	g.5045911C>A	CA478095936	KCNA5	c.1764C>A (p.Val588=)
12	g.5045911C=	CA2013431458	KCNA5	c.1764C= (p.Val588=)
12	g.5045911C>G	CA478095937	KCNA5	c.1764C>G (p.Val588=)	dbSNP COSMIC
12	g.5045911C>T	CA478095938	KCNA5	c.1764C>T (p.Val588=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045912A>C	CA383467170	KCNA5	c.1765A>C (p.Lys589Gln)
12	g.5045912A>G	CA383467171	KCNA5	c.1765A>G (p.Lys589Glu)
12	g.5045912A>T	CA383467172	KCNA5	c.1765A>T (p.Lys589Ter)
12	g.5045913A>C	CA383467173	KCNA5	c.1766A>C (p.Lys589Thr)
12	g.5045913A>G	CA383467174	KCNA5	c.1766A>G (p.Lys589Arg)
12	g.5045913A>T	CA383467175	KCNA5	c.1766A>T (p.Lys589Met)
12	g.5045914G>A	CA478095941	KCNA5	c.1767G>A (p.Lys589=)
12	g.5045914G>C	CA383467176	KCNA5	c.1767G>C (p.Lys589Asn)
12	g.5045914G>T	CA383467177	KCNA5	c.1767G>T (p.Lys589Asn)
12	g.5045915G>A	CA383467179	KCNA5	c.1768G>A (p.Ala590Thr)
12	g.5045915G>C	CA383467180	KCNA5	c.1768G>C (p.Ala590Pro)
12	g.5045915G>T	CA383467178	KCNA5	c.1768G>T (p.Ala590Ser)
12	g.5045916C>A	CA383467182	KCNA5	c.1769C>A (p.Ala590Asp)
12	g.5045916C>G	CA383467181	KCNA5	c.1769C>G (p.Ala590Gly)
12	g.5045916C>T	CA383467183	KCNA5	c.1769C>T (p.Ala590Val)	ClinVar gnomAD v4
12	g.5045917C>A	CA478095944	KCNA5	c.1770C>A (p.Ala590=)
12	g.5045917C>G	CA478095943	KCNA5	c.1770C>G (p.Ala590=)
12	g.5045917C>T	CA478095945	KCNA5	c.1770C>T (p.Ala590=)
12	g.5045918A>C	CA383467184	KCNA5	c.1771A>C (p.Lys591Gln)
12	g.5045918A>G	CA383467186	KCNA5	c.1771A>G (p.Lys591Glu)
12	g.5045918A>T	CA383467185	KCNA5	c.1771A>T (p.Lys591Ter)
12	g.5045919A>C	CA383467187	KCNA5	c.1772A>C (p.Lys591Thr)
12	g.5045919A>G	CA383467188	KCNA5	c.1772A>G (p.Lys591Arg)
12	g.5045919A>T	CA383467189	KCNA5	c.1772A>T (p.Lys591Met)
12	g.5045920G>A	CA478095950	KCNA5	c.1773G>A (p.Lys591=)
12	g.5045920G>C	CA383467190	KCNA5	c.1773G>C (p.Lys591Asn)	gnomAD v4
12	g.5045920G>T	CA383467191	KCNA5	c.1773G>T (p.Lys591Asn)	COSMIC
12	g.5045921A>C	CA383467192	KCNA5	c.1774A>C (p.Ser592Arg)
12	g.5045921A>G	CA383467193	KCNA5	c.1774A>G (p.Ser592Gly)	gnomAD v4
12	g.5045921A>T	CA383467194	KCNA5	c.1774A>T (p.Ser592Cys)
12	g.5045922G>A	CA6399943	KCNA5	c.1775G>A (p.Ser592Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045922G>C	CA383467195	KCNA5	c.1775G>C (p.Ser592Thr)
12	g.5045922G=	CA2013431459	KCNA5	c.1775G= (p.Ser592=)
12	g.5045922G>T	CA383467196	KCNA5	c.1775G>T (p.Ser592Ile)
12	g.5045923C>A	CA383467198	KCNA5	c.1776C>A (p.Ser592Arg)
12	g.5045923C=	CA2013431460	KCNA5	c.1776C= (p.Ser592=)
12	g.5045923C>G	CA383467197	KCNA5	c.1776C>G (p.Ser592Arg)	gnomAD v4
12	g.5045923C>T	CA6399944	KCNA5	c.1776C>T (p.Ser592=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045924A>C	CA383467199	KCNA5	c.1777A>C (p.Asn593His)
12	g.5045924A>G	CA383467200	KCNA5	c.1777A>G (p.Asn593Asp)	gnomAD v4
12	g.5045924A>T	CA383467201	KCNA5	c.1777A>T (p.Asn593Tyr)
12	g.5045925A>C	CA383467202	KCNA5	c.1778A>C (p.Asn593Thr)
12	g.5045925A>G	CA383467203	KCNA5	c.1778A>G (p.Asn593Ser)	gnomAD v4
12	g.5045925A>T	CA383467204	KCNA5	c.1778A>T (p.Asn593Ile)
12	g.5045926C>A	CA6399945	KCNA5	c.1779C>A (p.Asn593Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045926C=	CA2013431461	KCNA5	c.1779C= (p.Asn593=)
12	g.5045926C>G	CA383467205	KCNA5	c.1779C>G (p.Asn593Lys)	dbSNP gnomAD v4
12	g.5045926C>T	CA6399946	KCNA5	c.1779C>T (p.Asn593=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
12	g.5045927G>A	CA6399948	KCNA5	c.1780G>A (p.Val594Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045927G>C	CA383467206	KCNA5	c.1780G>C (p.Val594Leu)	gnomAD v4
12	g.5045927G=	CA2013431462	KCNA5	c.1780G= (p.Val594=)
12	g.5045927G>T	CA6399947	KCNA5	c.1780G>T (p.Val594Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045927_5045928insCCAA	CA2013431463	KCNA5	c.1780_1781insCCAA (p.Val594AlafsTer?)	dbSNP
12	g.5045928T>A	CA383467209	KCNA5	c.1781T>A (p.Val594Glu)
12	g.5045928T>C	CA383467208	KCNA5	c.1781T>C (p.Val594Ala)
12	g.5045928T>G	CA383467207	KCNA5	c.1781T>G (p.Val594Gly)	dbSNP
12	g.5045928T=	CA2013431464	KCNA5	c.1781T= (p.Val594=)
12	g.5045929G>A	CA478095957	KCNA5	c.1782G>A (p.Val594=)	dbSNP gnomAD v2
12	g.5045929G>C	CA478095955	KCNA5	c.1782G>C (p.Val594=)
12	g.5045929G=	CA2013431465	KCNA5	c.1782G= (p.Val594=)
12	g.5045929G>T	CA478095956	KCNA5	c.1782G>T (p.Val594=)
12	g.5045930G>A	CA383467212	KCNA5	c.1783G>A (p.Asp595Asn)	gnomAD v4
12	g.5045930G>C	CA383467210	KCNA5	c.1783G>C (p.Asp595His)
12	g.5045930G>T	CA383467211	KCNA5	c.1783G>T (p.Asp595Tyr)	gnomAD v4
12	g.5045931A>C	CA383467213	KCNA5	c.1784A>C (p.Asp595Ala)
12	g.5045931A>G	CA383467214	KCNA5	c.1784A>G (p.Asp595Gly)
12	g.5045931A>T	CA383467215	KCNA5	c.1784A>T (p.Asp595Val)
12	g.5045932C>A	CA383467216	KCNA5	c.1785C>A (p.Asp595Glu)
12	g.5045932C=	CA2013431466	KCNA5	c.1785C= (p.Asp595=)
12	g.5045932C>G	CA383467217	KCNA5	c.1785C>G (p.Asp595Glu)
12	g.5045932C>T	CA478095959	KCNA5	c.1785C>T (p.Asp595=)	dbSNP gnomAD v4
12	g.5045933T>A	CA383467218	KCNA5	c.1786T>A (p.Leu596Met)
12	g.5045933T>C	CA478095961	KCNA5	c.1786T>C (p.Leu596=)
12	g.5045933T>G	CA383467219	KCNA5	c.1786T>G (p.Leu596Val)
12	g.5045934T>A	CA383467220	KCNA5	c.1787T>A (p.Leu596Ter)
12	g.5045934T>C	CA383467221	KCNA5	c.1787T>C (p.Leu596Ser)
12	g.5045934T>G	CA383467222	KCNA5	c.1787T>G (p.Leu596Trp)
12	g.5045935G>A	CA478095965	KCNA5	c.1788G>A (p.Leu596=)
12	g.5045935G>C	CA383467223	KCNA5	c.1788G>C (p.Leu596Phe)
12	g.5045935G=	CA2013431467	KCNA5	c.1788G= (p.Leu596=)
12	g.5045935G>T	CA383467224	KCNA5	c.1788G>T (p.Leu596Phe)	dbSNP gnomAD v3 gnomAD v4
12	g.5045935dup	CA2575052200	KCNA5	c.1788dup (p.Arg597AlafsTer30)
12	g.5045936C>A	CA478095967	KCNA5	c.1789C>A (p.Arg597=)	ClinVar gnomAD v4
12	g.5045936C=	CA2013431468	KCNA5	c.1789C= (p.Arg597=)
12	g.5045936C>G	CA383467225	KCNA5	c.1789C>G (p.Arg597Gly)
12	g.5045936C>T	CA6399949	KCNA5	c.1789C>T (p.Arg597Trp)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045937G>A	CA6399950	KCNA5	c.1790G>A (p.Arg597Gln)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045937G>C	CA383467226	KCNA5	c.1790G>C (p.Arg597Pro)	dbSNP
12	g.5045937G=	CA2013431469	KCNA5	c.1790G= (p.Arg597=)
12	g.5045937G>T	CA383467227	KCNA5	c.1790G>T (p.Arg597Leu)	dbSNP gnomAD v2
12	g.5045938G>A	CA478095968	KCNA5	c.1791G>A (p.Arg597=)
12	g.5045938G>C	CA478095969	KCNA5	c.1791G>C (p.Arg597=)
12	g.5045938G>T	CA478095970	KCNA5	c.1791G>T (p.Arg597=)
12	g.5045939A>C	CA478095972	KCNA5	c.1792A>C (p.Arg598=)
12	g.5045939A>G	CA383467228	KCNA5	c.1792A>G (p.Arg598Gly)
12	g.5045939A>T	CA383467229	KCNA5	c.1792A>T (p.Arg598Trp)
12	g.5045940G>A	CA383467230	KCNA5	c.1793G>A (p.Arg598Lys)
12	g.5045940G>C	CA383467231	KCNA5	c.1793G>C (p.Arg598Thr)
12	g.5045940G>T	CA383467232	KCNA5	c.1793G>T (p.Arg598Met)	COSMIC
12	g.5045941G>A	CA478095974	KCNA5	c.1794G>A (p.Arg598=)
12	g.5045941G>C	CA383467233	KCNA5	c.1794G>C (p.Arg598Ser)
12	g.5045941G>T	CA383467234	KCNA5	c.1794G>T (p.Arg598Ser)
12	g.5045942T>A	CA383467235	KCNA5	c.1795T>A (p.Ser599Thr)
12	g.5045942T>C	CA383467236	KCNA5	c.1795T>C (p.Ser599Pro)
12	g.5045942T>G	CA383467237	KCNA5	c.1795T>G (p.Ser599Ala)
12	g.5045943C>A	CA383467239	KCNA5	c.1796C>A (p.Ser599Tyr)
12	g.5045943C>G	CA383467240	KCNA5	c.1796C>G (p.Ser599Cys)	COSMIC
12	g.5045943C>T	CA383467238	KCNA5	c.1796C>T (p.Ser599Phe)
12	g.5045943_5045944delinsGT	CA645578791	KCNA5	c.1796_1797delinsGT (p.Ser599Cys)	COSMIC
12	g.5045944C>A	CA478095977	KCNA5	c.1797C>A (p.Ser599=)	COSMIC
12	g.5045944C=	CA2013431470	KCNA5	c.1797C= (p.Ser599=)
12	g.5045944C>G	CA6399951	KCNA5	c.1797C>G (p.Ser599=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045944C>T	CA478095978	KCNA5	c.1797C>T (p.Ser599=)
12	g.5045945C>A	CA383467243	KCNA5	c.1798C>A (p.Leu600Ile)	gnomAD v4
12	g.5045945C>G	CA383467241	KCNA5	c.1798C>G (p.Leu600Val)
12	g.5045945C>T	CA383467242	KCNA5	c.1798C>T (p.Leu600Phe)
12	g.5045946T>A	CA383467244	KCNA5	c.1799T>A (p.Leu600His)
12	g.5045946T>C	CA383467245	KCNA5	c.1799T>C (p.Leu600Pro)
12	g.5045946T>G	CA383467246	KCNA5	c.1799T>G (p.Leu600Arg)
12	g.5045947T>A	CA478095982	KCNA5	c.1800T>A (p.Leu600=)
12	g.5045947T>C	CA478095983	KCNA5	c.1800T>C (p.Leu600=)
12	g.5045947T>G	CA478095981	KCNA5	c.1800T>G (p.Leu600=)
12	g.5045948T>A	CA383467247	KCNA5	c.1801T>A (p.Tyr601Asn)	gnomAD v4
12	g.5045948T>C	CA383467248	KCNA5	c.1801T>C (p.Tyr601His)
12	g.5045948T>G	CA383467249	KCNA5	c.1801T>G (p.Tyr601Asp)
12	g.5045949A=	CA2013431471	KCNA5	c.1802A= (p.Tyr601=)
12	g.5045949A>C	CA383467250	KCNA5	c.1802A>C (p.Tyr601Ser)
12	g.5045949A>G	CA383467251	KCNA5	c.1802A>G (p.Tyr601Cys)
12	g.5045949A>T	CA383467252	KCNA5	c.1802A>T (p.Tyr601Phe)	dbSNP gnomAD v3 gnomAD v4
12	g.5045950T>A	CA383467254	KCNA5	c.1803T>A (p.Tyr601Ter)
12	g.5045950T>C	CA478095987	KCNA5	c.1803T>C (p.Tyr601=)	dbSNP gnomAD v4
12	g.5045950T>G	CA383467253	KCNA5	c.1803T>G (p.Tyr601Ter)
12	g.5045950T=	CA2013431472	KCNA5	c.1803T= (p.Tyr601=)
12	g.5045951G>A	CA383467255	KCNA5	c.1804G>A (p.Ala602Thr)
12	g.5045951G>C	CA383467256	KCNA5	c.1804G>C (p.Ala602Pro)
12	g.5045951G>T	CA383467257	KCNA5	c.1804G>T (p.Ala602Ser)
12	g.5045952C>A	CA383467258	KCNA5	c.1805C>A (p.Ala602Asp)
12	g.5045952C>G	CA383467259	KCNA5	c.1805C>G (p.Ala602Gly)
12	g.5045952C>T	CA383467260	KCNA5	c.1805C>T (p.Ala602Val)	gnomAD v4
12	g.5045953C>A	CA478095991	KCNA5	c.1806C>A (p.Ala602=)
12	g.5045953C>G	CA478095992	KCNA5	c.1806C>G (p.Ala602=)	gnomAD v4
12	g.5045953C>T	CA478095994	KCNA5	c.1806C>T (p.Ala602=)
12	g.5045954C>A	CA383467261	KCNA5	c.1807C>A (p.Leu603Ile)
12	g.5045954C>G	CA383467262	KCNA5	c.1807C>G (p.Leu603Val)
12	g.5045954C>T	CA383467263	KCNA5	c.1807C>T (p.Leu603Phe)
12	g.5045955T>A	CA383467264	KCNA5	c.1808T>A (p.Leu603His)
12	g.5045955T>C	CA383467265	KCNA5	c.1808T>C (p.Leu603Pro)
12	g.5045955T>G	CA383467266	KCNA5	c.1808T>G (p.Leu603Arg)
12	g.5045956C>A	CA478095996	KCNA5	c.1809C>A (p.Leu603=)
12	g.5045956C>G	CA478095997	KCNA5	c.1809C>G (p.Leu603=)
12	g.5045956C>T	CA478095998	KCNA5	c.1809C>T (p.Leu603=)
12	g.5045957T>A	CA383467268	KCNA5	c.1810T>A (p.Cys604Ser)
12	g.5045957T>C	CA383467269	KCNA5	c.1810T>C (p.Cys604Arg)
12	g.5045957T>G	CA383467267	KCNA5	c.1810T>G (p.Cys604Gly)
12	g.5045958G>A	CA383467270	KCNA5	c.1811G>A (p.Cys604Tyr)
12	g.5045958G>C	CA383467271	KCNA5	c.1811G>C (p.Cys604Ser)
12	g.5045958G>T	CA383467272	KCNA5	c.1811G>T (p.Cys604Phe)	gnomAD v4
12	g.5045959C>A	CA383467273	KCNA5	c.1812C>A (p.Cys604Ter)
12	g.5045959C=	CA2013431473	KCNA5	c.1812C= (p.Cys604=)
12	g.5045959C>G	CA383467274	KCNA5	c.1812C>G (p.Cys604Trp)
12	g.5045959C>T	CA231869392	KCNA5	c.1812C>T (p.Cys604=)	dbSNP
12	g.5045960C>A	CA383467275	KCNA5	c.1813C>A (p.Leu605Met)	dbSNP
12	g.5045960C=	CA2013431474	KCNA5	c.1813C= (p.Leu605=)
12	g.5045960C>G	CA383467276	KCNA5	c.1813C>G (p.Leu605Val)	dbSNP
12	g.5045960C>T	CA478096003	KCNA5	c.1813C>T (p.Leu605=)
12	g.5045961T>A	CA383467277	KCNA5	c.1814T>A (p.Leu605Gln)
12	g.5045961T>C	CA383467279	KCNA5	c.1814T>C (p.Leu605Pro)
12	g.5045961T>G	CA383467278	KCNA5	c.1814T>G (p.Leu605Arg)
12	g.5045962G>A	CA6399952	KCNA5	c.1815G>A (p.Leu605=)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045962G>C	CA478096007	KCNA5	c.1815G>C (p.Leu605=)
12	g.5045962G=	CA2013431475	KCNA5	c.1815G= (p.Leu605=)
12	g.5045962G>T	CA478096008	KCNA5	c.1815G>T (p.Leu605=)	gnomAD v4
12	g.5045963G>A	CA383467280	KCNA5	c.1816G>A (p.Asp606Asn)	dbSNP
12	g.5045963G>C	CA383467281	KCNA5	c.1816G>C (p.Asp606His)	gnomAD v4
12	g.5045963G=	CA2013431476	KCNA5	c.1816G= (p.Asp606=)
12	g.5045963G>T	CA383467282	KCNA5	c.1816G>T (p.Asp606Tyr)
12	g.5045964A=	CA2013431477	KCNA5	c.1817A= (p.Asp606=)
12	g.5045964A>C	CA383467283	KCNA5	c.1817A>C (p.Asp606Ala)
12	g.5045964A>G	CA6399953	KCNA5	c.1817A>G (p.Asp606Gly)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045964A>T	CA383467284	KCNA5	c.1817A>T (p.Asp606Val)
12	g.5045966_5045967del	CA2794382110	KCNA5	c.1819_1820del (p.Thr607GlnfsTer19)
12	g.5045965C>A	CA383467285	KCNA5	c.1818C>A (p.Asp606Glu)	COSMIC
12	g.5045965C>G	CA383467286	KCNA5	c.1818C>G (p.Asp606Glu)
12	g.5045965C>T	CA478096015	KCNA5	c.1818C>T (p.Asp606=)
12	g.5045966A=	CA2013431478	KCNA5	c.1819A= (p.Thr607=)
12	g.5045966A>C	CA383467287	KCNA5	c.1819A>C (p.Thr607Pro)	dbSNP
12	g.5045966A>G	CA383467288	KCNA5	c.1819A>G (p.Thr607Ala)
12	g.5045966A>T	CA383467289	KCNA5	c.1819A>T (p.Thr607Ser)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045967C>A	CA383467290	KCNA5	c.1820C>A (p.Thr607Asn)	dbSNP gnomAD v2 gnomAD v4
12	g.5045967C=	CA2013431479	KCNA5	c.1820C= (p.Thr607=)
12	g.5045967C>G	CA383467291	KCNA5	c.1820C>G (p.Thr607Ser)
12	g.5045967C>T	CA383467292	KCNA5	c.1820C>T (p.Thr607Ile)	dbSNP
12	g.5045968C>A	CA478096020	KCNA5	c.1821C>A (p.Thr607=)
12	g.5045968C>G	CA478096021	KCNA5	c.1821C>G (p.Thr607=)
12	g.5045968C>T	CA478096022	KCNA5	c.1821C>T (p.Thr607=)
12	g.5045969A>C	CA383467293	KCNA5	c.1822A>C (p.Ser608Arg)
12	g.5045969A>G	CA383467294	KCNA5	c.1822A>G (p.Ser608Gly)	COSMIC
12	g.5045969A>T	CA383467295	KCNA5	c.1822A>T (p.Ser608Cys)
12	g.5045970G>A	CA383467298	KCNA5	c.1823G>A (p.Ser608Asn)	dbSNP
12	g.5045970G>C	CA383467297	KCNA5	c.1823G>C (p.Ser608Thr)
12	g.5045970G=	CA2013431480	KCNA5	c.1823G= (p.Ser608=)
12	g.5045970G>T	CA383467296	KCNA5	c.1823G>T (p.Ser608Ile)
12	g.5045971C>A	CA383467299	KCNA5	c.1824C>A (p.Ser608Arg)
12	g.5045971C>G	CA383467300	KCNA5	c.1824C>G (p.Ser608Arg)
12	g.5045971C>T	CA478096025	KCNA5	c.1824C>T (p.Ser608=)
12	g.5045972C>A	CA231869403	KCNA5	c.1825C>A (p.Arg609=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045972C=	CA2013431481	KCNA5	c.1825C= (p.Arg609=)
12	g.5045972C>G	CA383467301	KCNA5	c.1825C>G (p.Arg609Gly)	dbSNP gnomAD v2 gnomAD v4
12	g.5045972C>T	CA383467302	KCNA5	c.1825C>T (p.Arg609Trp)
12	g.5045973G>A	CA231869404	KCNA5	c.1826G>A (p.Arg609Gln)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
12	g.5045973G>C	CA383467303	KCNA5	c.1826G>C (p.Arg609Pro)	ClinVar dbSNP
12	g.5045973G=	CA2013431482	KCNA5	c.1826G= (p.Arg609=)
12	g.5045973G>T	CA383467304	KCNA5	c.1826G>T (p.Arg609Leu)
12	g.5045974G>A	CA478096032	KCNA5	c.1827G>A (p.Arg609=)	dbSNP
12	g.5045974G>C	CA478096033	KCNA5	c.1827G>C (p.Arg609=)
12	g.5045974G=	CA2013431483	KCNA5	c.1827G= (p.Arg609=)
12	g.5045974G>T	CA478096034	KCNA5	c.1827G>T (p.Arg609=)
12	g.5045975G>A	CA123128	KCNA5	c.1828G>A (p.Glu610Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.5045975G>C	CA383467305	KCNA5	c.1828G>C (p.Glu610Gln)
12	g.5045975G=	CA2013431484	KCNA5	c.1828G= (p.Glu610=)
12	g.5045975G>T	CA383467306	KCNA5	c.1828G>T (p.Glu610Ter)
12	g.5045976A=	CA2013431485	KCNA5	c.1829A= (p.Glu610=)
12	g.5045976A>C	CA383467307	KCNA5	c.1829A>C (p.Glu610Ala)
12	g.5045976A>G	CA6399954	KCNA5	c.1829A>G (p.Glu610Gly)	dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045976A>T	CA383467308	KCNA5	c.1829A>T (p.Glu610Val)	dbSNP gnomAD v2
12	g.5045977A>C	CA383467309	KCNA5	c.1830A>C (p.Glu610Asp)
12	g.5045977A>G	CA478096037	KCNA5	c.1830A>G (p.Glu610=)
12	g.5045977A>T	CA383467310	KCNA5	c.1830A>T (p.Glu610Asp)
12	g.5045978A>C	CA383467313	KCNA5	c.1831A>C (p.Thr611Pro)
12	g.5045978A>G	CA383467311	KCNA5	c.1831A>G (p.Thr611Ala)
12	g.5045978A>T	CA383467312	KCNA5	c.1831A>T (p.Thr611Ser)
12	g.5045979C>A	CA6399955	KCNA5	c.1832C>A (p.Thr611Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
12	g.5045979C=	CA2013431486	KCNA5	c.1832C= (p.Thr611=)
12	g.5045979C>G	CA383467314	KCNA5	c.1832C>G (p.Thr611Arg)	dbSNP
12	g.5045979C>T	CA383467315	KCNA5	c.1832C>T (p.Thr611Ile)	gnomAD v4
12	g.5045980A>C	CA478096041	KCNA5	c.1833A>C (p.Thr611=)
12	g.5045980A>G	CA478096042	KCNA5	c.1833A>G (p.Thr611=)	gnomAD v4
12	g.5045980A>T	CA478096043	KCNA5	c.1833A>T (p.Thr611=)
12	g.5045981G>A	CA383467316	KCNA5	c.1834G>A (p.Asp612Asn)	gnomAD v4
12	g.5045981G>C	CA383467317	KCNA5	c.1834G>C (p.Asp612His)
12	g.5045981G>T	CA383467318	KCNA5	c.1834G>T (p.Asp612Tyr)
12	g.5045982A>C	CA383467319	KCNA5	c.1835A>C (p.Asp612Ala)
12	g.5045982A>G	CA383467320	KCNA5	c.1835A>G (p.Asp612Gly)
12	g.5045982A>T	CA383467321	KCNA5	c.1835A>T (p.Asp612Val)
12	g.5045983T>A	CA383467322	KCNA5	c.1836T>A (p.Asp612Glu)	dbSNP gnomAD v2 gnomAD v4
12	g.5045983T>C	CA478096046	KCNA5	c.1836T>C (p.Asp612=)	dbSNP gnomAD v4
12	g.5045983T>G	CA383467323	KCNA5	c.1836T>G (p.Asp612Glu)
12	g.5045983T=	CA2013431487	KCNA5	c.1836T= (p.Asp612=)
12	g.5045984T>A	CA383467324	KCNA5	c.1837T>A (p.Leu613Met)
12	g.5045984T>C	CA478096047	KCNA5	c.1837T>C (p.Leu613=)
12	g.5045984T>G	CA383467325	KCNA5	c.1837T>G (p.Leu613Val)	dbSNP
12	g.5045985T>A	CA6399956	KCNA5	c.1838T>A (p.Leu613Ter)	dbSNP ExAC gnomAD v3 gnomAD v4
12	g.5045985T>C	CA383467327	KCNA5	c.1838T>C (p.Leu613Ser)
12	g.5045985T>G	CA383467326	KCNA5	c.1838T>G (p.Leu613Trp)
12	g.5045985T=	CA2013431488	KCNA5	c.1838T= (p.Leu613=)
12	g.5045986G>A	CA478096051	KCNA5	c.1839G>A (p.Leu613=)
12	g.5045986G>C	CA383467328	KCNA5	c.1839G>C (p.Leu613Phe)	dbSNP
12	g.5045986G>T	CA383467329	KCNA5	c.1839G>T (p.Leu613Phe)
12	g.5045987T>A	CA231869412	KCNA5	c.1840T>A (p.Ter614Arg)	dbSNP
12	g.5045987T>C	CA383467330	KCNA5	c.1840T>C (p.Ter614Arg)
12	g.5045987T>G	CA383467331	KCNA5	c.1840T>G (p.Ter614Gly)
12	g.5045987T=	CA2013431489	KCNA5	c.1840T= (p.Ter614=)

Number of alleles fetched