Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941169_63941172delinsACTT	CA2270160814	SCN4A	c.5110_5113delinsAAGT (p.Lys1704=)
17	g.63941172_63941174del	CA915950729	SCN4A	c.5110_5112del (p.Lys1704del)	ClinVar dbSNP
17	g.63941172T>A	CA400614018	SCN4A	c.5110A>T (p.Lys1704Ter)	dbSNP
17	g.63941172T>C	CA400614021	SCN4A	c.5110A>G (p.Lys1704Glu)
17	g.63941172T>G	CA400614023	SCN4A	c.5110A>C (p.Lys1704Gln)
17	g.63941172T=	CA2270160815	SCN4A	c.5110A= (p.Lys1704=)
17	g.63941172_63941175delinsTCTC	CA2270160816	SCN4A	c.5107_5110delinsGAGA (p.Glu1703=)
17	g.63941175_63941186del	CA2695226826	SCN4A	c.5099_5110del (p.Thr1700_Glu1703del)
17	g.63941173C>A	CA400614026	SCN4A	c.5109G>T (p.Glu1703Asp)
17	g.63941173C>G	CA400614029	SCN4A	c.5109G>C (p.Glu1703Asp)
17	g.63941173C>T	CA501348375	SCN4A	c.5109G>A (p.Glu1703=)
17	g.63941177_63941179del	CA627150279	SCN4A	c.5107_5109del (p.Glu1703del)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941174T>A	CA400614032	SCN4A	c.5108A>T (p.Glu1703Val)
17	g.63941174T>C	CA400614034	SCN4A	c.5108A>G (p.Glu1703Gly)
17	g.63941174T>G	CA400614038	SCN4A	c.5108A>C (p.Glu1703Ala)
17	g.63941175C>A	CA400614041	SCN4A	c.5107G>T (p.Glu1703Ter)	dbSNP
17	g.63941175C=	CA2270160817	SCN4A	c.5107G= (p.Glu1703=)
17	g.63941175C>G	CA400614044	SCN4A	c.5107G>C (p.Glu1703Gln)
17	g.63941175C>T	CA400614047	SCN4A	c.5107G>A (p.Glu1703Lys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941176C>A	CA400614051	SCN4A	c.5106G>T (p.Glu1702Asp)
17	g.63941176C>G	CA400614054	SCN4A	c.5106G>C (p.Glu1702Asp)	gnomAD v4
17	g.63941176C>T	CA501348378	SCN4A	c.5106G>A (p.Glu1702=)
17	g.63941177T>A	CA400614061	SCN4A	c.5105A>T (p.Glu1702Val)	ClinVar dbSNP
17	g.63941177T>C	CA400614062	SCN4A	c.5105A>G (p.Glu1702Gly)	ClinVar dbSNP
17	g.63941177T>G	CA400614058	SCN4A	c.5105A>C (p.Glu1702Ala)
17	g.63941177T=	CA2270160818	SCN4A	c.5105A= (p.Glu1702=)
17	g.63941178C>A	CA400614065	SCN4A	c.5104G>T (p.Glu1702Ter)	dbSNP
17	g.63941178C=	CA2270160819	SCN4A	c.5104G= (p.Glu1702=)
17	g.63941178C>G	CA400614068	SCN4A	c.5104G>C (p.Glu1702Gln)
17	g.63941178C>T	CA400614067	SCN4A	c.5104G>A (p.Glu1702Lys)	ClinVar dbSNP
17	g.63941179C>A	CA400614071	SCN4A	c.5103G>T (p.Met1701Ile)
17	g.63941179C>G	CA400614073	SCN4A	c.5103G>C (p.Met1701Ile)
17	g.63941179C>T	CA400614075	SCN4A	c.5103G>A (p.Met1701Ile)	gnomAD v4
17	g.63941180A>C	CA400614077	SCN4A	c.5102T>G (p.Met1701Arg)
17	g.63941180A>G	CA400614078	SCN4A	c.5102T>C (p.Met1701Thr)	ClinVar dbSNP
17	g.63941180A>T	CA400614080	SCN4A	c.5102T>A (p.Met1701Lys)
17	g.63941181T>A	CA400614083	SCN4A	c.5101A>T (p.Met1701Leu)
17	g.63941181T>C	CA400614084	SCN4A	c.5101A>G (p.Met1701Val)	dbSNP gnomAD v2 gnomAD v4
17	g.63941181T>G	CA400614086	SCN4A	c.5101A>C (p.Met1701Leu)
17	g.63941181T=	CA2270160820	SCN4A	c.5101A= (p.Met1701=)
17	g.63941182G>A	CA501348383	SCN4A	c.5100C>T (p.Thr1700=)	COSMIC
17	g.63941182G>C	CA501348384	SCN4A	c.5100C>G (p.Thr1700=)
17	g.63941182G>T	CA501348385	SCN4A	c.5100C>A (p.Thr1700=)
17	g.63941183G>A	CA400614089	SCN4A	c.5099C>T (p.Thr1700Ile)
17	g.63941183G>C	CA400614090	SCN4A	c.5099C>G (p.Thr1700Ser)
17	g.63941183G>T	CA400614092	SCN4A	c.5099C>A (p.Thr1700Asn)
17	g.63941184T>A	CA400614097	SCN4A	c.5098A>T (p.Thr1700Ser)
17	g.63941184T>C	CA400614094	SCN4A	c.5098A>G (p.Thr1700Ala)	gnomAD v4
17	g.63941184T>G	CA400614096	SCN4A	c.5098A>C (p.Thr1700Pro)
17	g.63941184_63941185insGTCCTACGAGCCCACCACCACCC	CA2810127820	SCN4A	c.5097_5098insGGGTGGTGGTGGGCTCGTAGGAC (p.Thr1700GlyfsTer?)
17	g.63941185C>A	CA400614099	SCN4A	c.5097G>T (p.Gln1699His)
17	g.63941185C>G	CA400614101	SCN4A	c.5097G>C (p.Gln1699His)	gnomAD v4
17	g.63941185C>T	CA501348392	SCN4A	c.5097G>A (p.Gln1699=)
17	g.63941186T>A	CA400614105	SCN4A	c.5096A>T (p.Gln1699Leu)
17	g.63941186T>C	CA400614107	SCN4A	c.5096A>G (p.Gln1699Arg)
17	g.63941186T>G	CA400614109	SCN4A	c.5096A>C (p.Gln1699Pro)
17	g.63941187G>A	CA400614111	SCN4A	c.5095C>T (p.Gln1699Ter)
17	g.63941187G>C	CA400614112	SCN4A	c.5095C>G (p.Gln1699Glu)
17	g.63941187G>T	CA400614114	SCN4A	c.5095C>A (p.Gln1699Lys)
17	g.63941188C>A	CA400614116	SCN4A	c.5094G>T (p.Lys1698Asn)
17	g.63941188C>G	CA400614118	SCN4A	c.5094G>C (p.Lys1698Asn)
17	g.63941188C>T	CA501348396	SCN4A	c.5094G>A (p.Lys1698=)
17	g.63941189T>A	CA400614122	SCN4A	c.5093A>T (p.Lys1698Met)
17	g.63941189T>C	CA400614121	SCN4A	c.5093A>G (p.Lys1698Arg)
17	g.63941189T>G	CA400614119	SCN4A	c.5093A>C (p.Lys1698Thr)
17	g.63941190T>A	CA400614125	SCN4A	c.5092A>T (p.Lys1698Ter)	dbSNP
17	g.63941190T>C	CA400614126	SCN4A	c.5092A>G (p.Lys1698Glu)	dbSNP gnomAD v2 gnomAD v4
17	g.63941190T>G	CA400614129	SCN4A	c.5092A>C (p.Lys1698Gln)
17	g.63941190T=	CA2270160821	SCN4A	c.5092A= (p.Lys1698=)
17	g.63941191G>A	CA501348402	SCN4A	c.5091C>T (p.Leu1697=)	dbSNP
17	g.63941191G>C	CA501348403	SCN4A	c.5091C>G (p.Leu1697=)	gnomAD v4
17	g.63941191G=	CA2270160822	SCN4A	c.5091C= (p.Leu1697=)
17	g.63941191G>T	CA501348404	SCN4A	c.5091C>A (p.Leu1697=)
17	g.63941192A>C	CA400614131	SCN4A	c.5090T>G (p.Leu1697Arg)
17	g.63941192A>G	CA400614133	SCN4A	c.5090T>C (p.Leu1697Pro)
17	g.63941192A>T	CA400614135	SCN4A	c.5090T>A (p.Leu1697His)
17	g.63941193G>A	CA400614138	SCN4A	c.5089C>T (p.Leu1697Phe)
17	g.63941193G>C	CA400614140	SCN4A	c.5089C>G (p.Leu1697Val)	gnomAD v4
17	g.63941193G>T	CA400614141	SCN4A	c.5089C>A (p.Leu1697Ile)
17	g.63941194G>A	CA8708836	SCN4A	c.5088C>T (p.Ala1696=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941194G>C	CA501348408	SCN4A	c.5088C>G (p.Ala1696=)
17	g.63941194G=	CA2270160823	SCN4A	c.5088C= (p.Ala1696=)
17	g.63941194G>T	CA501348409	SCN4A	c.5088C>A (p.Ala1696=)
17	g.63941195G>A	CA400614144	SCN4A	c.5087C>T (p.Ala1696Val)
17	g.63941195G>C	CA400614145	SCN4A	c.5087C>G (p.Ala1696Gly)
17	g.63941195G>T	CA400614146	SCN4A	c.5087C>A (p.Ala1696Asp)
17	g.63941196C>A	CA8708838	SCN4A	c.5086G>T (p.Ala1696Ser)	dbSNP ExAC gnomAD v2
17	g.63941196C=	CA2270160824	SCN4A	c.5086G= (p.Ala1696=)
17	g.63941196C>G	CA400614148	SCN4A	c.5086G>C (p.Ala1696Pro)
17	g.63941196C>T	CA8708837	SCN4A	c.5086G>A (p.Ala1696Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941197_63941200del	CA2639322833	SCN4A	c.5083_5086del (p.Asp1695ProfsTer?)	gnomAD v4
17	g.63941197G>A	CA8708839	SCN4A	c.5085C>T (p.Asp1695=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941197G>C	CA400614155	SCN4A	c.5085C>G (p.Asp1695Glu)
17	g.63941197G=	CA2270160825	SCN4A	c.5085C= (p.Asp1695=)
17	g.63941197G>T	CA400614157	SCN4A	c.5085C>A (p.Asp1695Glu)
17	g.63941198T>A	CA400614159	SCN4A	c.5084A>T (p.Asp1695Val)
17	g.63941198T>C	CA400614161	SCN4A	c.5084A>G (p.Asp1695Gly)
17	g.63941198T>G	CA400614164	SCN4A	c.5084A>C (p.Asp1695Ala)
17	g.63941199C>A	CA400614168	SCN4A	c.5083G>T (p.Asp1695Tyr)
17	g.63941199C=	CA2270160826	SCN4A	c.5083G= (p.Asp1695=)
17	g.63941199C>G	CA8708840	SCN4A	c.5083G>C (p.Asp1695His)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941199C>T	CA400614173	SCN4A	c.5083G>A (p.Asp1695Asn)
17	g.63941200C>A	CA400614178	SCN4A	c.5082G>T (p.Met1694Ile)
17	g.63941200C>G	CA400614180	SCN4A	c.5082G>C (p.Met1694Ile)
17	g.63941200C>T	CA400614182	SCN4A	c.5082G>A (p.Met1694Ile)	COSMIC
17	g.63941201A>C	CA400614188	SCN4A	c.5081T>G (p.Met1694Arg)
17	g.63941201A>G	CA400614186	SCN4A	c.5081T>C (p.Met1694Thr)
17	g.63941201A>T	CA400614184	SCN4A	c.5081T>A (p.Met1694Lys)
17	g.63941202T>A	CA400614190	SCN4A	c.5080A>T (p.Met1694Leu)
17	g.63941202T>C	CA400614189	SCN4A	c.5080A>G (p.Met1694Val)
17	g.63941202T>G	CA400614191	SCN4A	c.5080A>C (p.Met1694Leu)
17	g.63941203T>A	CA400614193	SCN4A	c.5079A>T (p.Glu1693Asp)
17	g.63941203T>C	CA501348417	SCN4A	c.5079A>G (p.Glu1693=)
17	g.63941203T>G	CA400614195	SCN4A	c.5079A>C (p.Glu1693Asp)
17	g.63941204T>A	CA400614198	SCN4A	c.5078A>T (p.Glu1693Val)
17	g.63941204T>C	CA400614201	SCN4A	c.5078A>G (p.Glu1693Gly)
17	g.63941204T>G	CA400614203	SCN4A	c.5078A>C (p.Glu1693Ala)
17	g.63941205C>A	CA400614205	SCN4A	c.5077G>T (p.Glu1693Ter)	dbSNP COSMIC
17	g.63941205C=	CA2270160827	SCN4A	c.5077G= (p.Glu1693=)
17	g.63941205C>G	CA400614207	SCN4A	c.5077G>C (p.Glu1693Gln)
17	g.63941205C>T	CA400614210	SCN4A	c.5077G>A (p.Glu1693Lys)	COSMIC
17	g.63941206C>A	CA501348421	SCN4A	c.5076G>T (p.Gly1692=)
17	g.63941206C>G	CA501348422	SCN4A	c.5076G>C (p.Gly1692=)
17	g.63941206C>T	CA501348423	SCN4A	c.5076G>A (p.Gly1692=)	COSMIC
17	g.63941207C>A	CA400614212	SCN4A	c.5075G>T (p.Gly1692Val)
17	g.63941207C=	CA2270160828	SCN4A	c.5075G= (p.Gly1692=)
17	g.63941207C>G	CA8708841	SCN4A	c.5075G>C (p.Gly1692Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941207C>T	CA400614215	SCN4A	c.5075G>A (p.Gly1692Glu)
17	g.63941208C>A	CA292956585	SCN4A	c.5074G>T (p.Gly1692Trp)	dbSNP
17	g.63941208C=	CA2270160829	SCN4A	c.5074G= (p.Gly1692=)
17	g.63941208C>G	CA400614216	SCN4A	c.5074G>C (p.Gly1692Arg)
17	g.63941208C>T	CA292956588	SCN4A	c.5074G>A (p.Gly1692Arg)	dbSNP
17	g.63941209A=	CA2270160830	SCN4A	c.5073T= (p.Ser1691=)
17	g.63941209A>C	CA501348427	SCN4A	c.5073T>G (p.Ser1691=)
17	g.63941209A>G	CA501348428	SCN4A	c.5073T>C (p.Ser1691=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941209A>T	CA501348429	SCN4A	c.5073T>A (p.Ser1691=)
17	g.63941210G>A	CA400614219	SCN4A	c.5072C>T (p.Ser1691Phe)
17	g.63941210G>C	CA400614218	SCN4A	c.5072C>G (p.Ser1691Cys)
17	g.63941210G>T	CA400614217	SCN4A	c.5072C>A (p.Ser1691Tyr)
17	g.63941211A>C	CA400614220	SCN4A	c.5071T>G (p.Ser1691Ala)
17	g.63941211A>G	CA400614221	SCN4A	c.5071T>C (p.Ser1691Pro)
17	g.63941211A>T	CA400614222	SCN4A	c.5071T>A (p.Ser1691Thr)
17	g.63941212G>A	CA8708842	SCN4A	c.5070C>T (p.Asp1690=)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941212G>C	CA400614223	SCN4A	c.5070C>G (p.Asp1690Glu)
17	g.63941212G=	CA2270160831	SCN4A	c.5070C= (p.Asp1690=)
17	g.63941212G>T	CA400614224	SCN4A	c.5070C>A (p.Asp1690Glu)
17	g.63941213T>A	CA400614225	SCN4A	c.5069A>T (p.Asp1690Val)
17	g.63941213T>C	CA400614226	SCN4A	c.5069A>G (p.Asp1690Gly)	gnomAD v4
17	g.63941213T>G	CA400614227	SCN4A	c.5069A>C (p.Asp1690Ala)	gnomAD v4
17	g.63941214C>A	CA400614228	SCN4A	c.5068G>T (p.Asp1690Tyr)
17	g.63941214C>G	CA400614229	SCN4A	c.5068G>C (p.Asp1690His)
17	g.63941214C>T	CA400614230	SCN4A	c.5068G>A (p.Asp1690Asn)
17	g.63941215A>C	CA501347972	SCN4A	c.5067T>G (p.Gly1689=)
17	g.63941215A>G	CA501347976	SCN4A	c.5067T>C (p.Gly1689=)
17	g.63941215A>T	CA501347978	SCN4A	c.5067T>A (p.Gly1689=)
17	g.63941216C>A	CA400614232	SCN4A	c.5066G>T (p.Gly1689Val)
17	g.63941216C=	CA2270160832	SCN4A	c.5066G= (p.Gly1689=)
17	g.63941216C>G	CA8708843	SCN4A	c.5066G>C (p.Gly1689Ala)	dbSNP ExAC gnomAD v2
17	g.63941216C>T	CA400614231	SCN4A	c.5066G>A (p.Gly1689Asp)	gnomAD v4
17	g.63941217C>A	CA400614233	SCN4A	c.5065G>T (p.Gly1689Cys)
17	g.63941217C>G	CA400614234	SCN4A	c.5065G>C (p.Gly1689Arg)
17	g.63941217C>T	CA400614235	SCN4A	c.5065G>A (p.Gly1689Ser)
17	g.63941218C>A	CA501347992	SCN4A	c.5064G>T (p.Leu1688=)
17	g.63941218C>G	CA501347997	SCN4A	c.5064G>C (p.Leu1688=)	gnomAD v4
17	g.63941218C>T	CA501347993	SCN4A	c.5064G>A (p.Leu1688=)
17	g.63941219A>C	CA400614236	SCN4A	c.5063T>G (p.Leu1688Arg)
17	g.63941219A>G	CA400614237	SCN4A	c.5063T>C (p.Leu1688Pro)
17	g.63941219A>T	CA400614238	SCN4A	c.5063T>A (p.Leu1688Gln)
17	g.63941220G>A	CA501348002	SCN4A	c.5062C>T (p.Leu1688=)	gnomAD v4
17	g.63941220G>C	CA400614239	SCN4A	c.5062C>G (p.Leu1688Val)
17	g.63941220G>T	CA400614240	SCN4A	c.5062C>A (p.Leu1688Met)
17	g.63941221G>A	CA501348003	SCN4A	c.5061C>T (p.Val1687=)	ClinVar dbSNP gnomAD v4
17	g.63941221G>C	CA501348005	SCN4A	c.5061C>G (p.Val1687=)
17	g.63941221G=	CA2270160833	SCN4A	c.5061C= (p.Val1687=)
17	g.63941221G>T	CA501348007	SCN4A	c.5061C>A (p.Val1687=)	gnomAD v4
17	g.63941222A>C	CA400614241	SCN4A	c.5060T>G (p.Val1687Gly)
17	g.63941222A>G	CA400614242	SCN4A	c.5060T>C (p.Val1687Ala)
17	g.63941222A>T	CA400614243	SCN4A	c.5060T>A (p.Val1687Asp)
17	g.63941223C>A	CA400614244	SCN4A	c.5059G>T (p.Val1687Phe)	gnomAD v4
17	g.63941223C>G	CA400614245	SCN4A	c.5059G>C (p.Val1687Leu)
17	g.63941223C>T	CA400614246	SCN4A	c.5059G>A (p.Val1687Ile)
17	g.63941223_63941224del	CA2639322907	SCN4A	c.5058_5059del (p.Glu1686AspfsTer4)	gnomAD v4
17	g.63941224C>A	CA400614247	SCN4A	c.5058G>T (p.Glu1686Asp)	COSMIC
17	g.63941224C=	CA2270160834	SCN4A	c.5058G= (p.Glu1686=)
17	g.63941224C>G	CA292956598	SCN4A	c.5058G>C (p.Glu1686Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.63941224C>T	CA501348012	SCN4A	c.5058G>A (p.Glu1686=)	gnomAD v4
17	g.63941225T>A	CA400614248	SCN4A	c.5057A>T (p.Glu1686Val)
17	g.63941225T>C	CA400614249	SCN4A	c.5057A>G (p.Glu1686Gly)
17	g.63941225T>G	CA400614250	SCN4A	c.5057A>C (p.Glu1686Ala)
17	g.63941226C>A	CA292956602	SCN4A	c.5056G>T (p.Glu1686Ter)	dbSNP
17	g.63941226C=	CA2270160835	SCN4A	c.5056G= (p.Glu1686=)
17	g.63941226C>G	CA400614251	SCN4A	c.5056G>C (p.Glu1686Gln)	COSMIC
17	g.63941226C>T	CA8708844	SCN4A	c.5056G>A (p.Glu1686Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941227T>A	CA400614252	SCN4A	c.5055A>T (p.Lys1685Asn)
17	g.63941227T>C	CA501348020	SCN4A	c.5055A>G (p.Lys1685=)	gnomAD v4
17	g.63941227T>G	CA400614253	SCN4A	c.5055A>C (p.Lys1685Asn)
17	g.63941228T>A	CA400614254	SCN4A	c.5054A>T (p.Lys1685Ile)
17	g.63941228T>C	CA400614255	SCN4A	c.5054A>G (p.Lys1685Arg)
17	g.63941228T>G	CA400614256	SCN4A	c.5054A>C (p.Lys1685Thr)
17	g.63941229T>A	CA400614259	SCN4A	c.5053A>T (p.Lys1685Ter)	dbSNP
17	g.63941229T>C	CA400614258	SCN4A	c.5053A>G (p.Lys1685Glu)
17	g.63941229T>G	CA400614257	SCN4A	c.5053A>C (p.Lys1685Gln)
17	g.63941229T=	CA2270160836	SCN4A	c.5053A= (p.Lys1685=)
17	g.63941230G>A	CA501348027	SCN4A	c.5052C>T (p.Thr1684=)
17	g.63941230G>C	CA501348029	SCN4A	c.5052C>G (p.Thr1684=)
17	g.63941230G>T	CA501348031	SCN4A	c.5052C>A (p.Thr1684=)
17	g.63941231G>A	CA8708846	SCN4A	c.5051C>T (p.Thr1684Ile)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941231G>C	CA8708847	SCN4A	c.5051C>G (p.Thr1684Ser)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941231G=	CA2270160837	SCN4A	c.5051C= (p.Thr1684=)
17	g.63941231G>T	CA8708845	SCN4A	c.5051C>A (p.Thr1684Asn)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941232T>A	CA400614260	SCN4A	c.5050A>T (p.Thr1684Ser)
17	g.63941232T>C	CA400614261	SCN4A	c.5050A>G (p.Thr1684Ala)	gnomAD v4
17	g.63941232T>G	CA400614262	SCN4A	c.5050A>C (p.Thr1684Pro)	gnomAD v4
17	g.63941233C>A	CA501348040	SCN4A	c.5049G>T (p.Leu1683=)
17	g.63941233C=	CA2270160838	SCN4A	c.5049G= (p.Leu1683=)
17	g.63941233C>G	CA8708848	SCN4A	c.5049G>C (p.Leu1683=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941233C>T	CA501348043	SCN4A	c.5049G>A (p.Leu1683=)	COSMIC
17	g.63941234A>C	CA400614263	SCN4A	c.5048T>G (p.Leu1683Arg)	gnomAD v4
17	g.63941234A>G	CA400614264	SCN4A	c.5048T>C (p.Leu1683Pro)
17	g.63941234A>T	CA400614265	SCN4A	c.5048T>A (p.Leu1683Gln)	ClinVar
17	g.63941235G>A	CA501348047	SCN4A	c.5047C>T (p.Leu1683=)	dbSNP gnomAD v4
17	g.63941235G>C	CA400614266	SCN4A	c.5047C>G (p.Leu1683Val)
17	g.63941235G=	CA2270160839	SCN4A	c.5047C= (p.Leu1683=)
17	g.63941235G>T	CA400614267	SCN4A	c.5047C>A (p.Leu1683Met)
17	g.63941236G>A	CA501348048	SCN4A	c.5046C>T (p.Ala1682=)
17	g.63941236G>C	CA501348050	SCN4A	c.5046C>G (p.Ala1682=)
17	g.63941236G>T	CA501348053	SCN4A	c.5046C>A (p.Ala1682=)
17	g.63941237G>A	CA400614268	SCN4A	c.5045C>T (p.Ala1682Val)
17	g.63941237G>C	CA400614269	SCN4A	c.5045C>G (p.Ala1682Gly)
17	g.63941237G=	CA2270160840	SCN4A	c.5045C= (p.Ala1682=)
17	g.63941237G>T	CA400614270	SCN4A	c.5045C>A (p.Ala1682Asp)	dbSNP gnomAD v2 gnomAD v4
17	g.63941238C>A	CA400614273	SCN4A	c.5044G>T (p.Ala1682Ser)
17	g.63941238C>G	CA400614271	SCN4A	c.5044G>C (p.Ala1682Pro)
17	g.63941238C>T	CA400614272	SCN4A	c.5044G>A (p.Ala1682Thr)	gnomAD v4
17	g.63941239A>C	CA400614274	SCN4A	c.5043T>G (p.Phe1681Leu)
17	g.63941239A>G	CA501348058	SCN4A	c.5043T>C (p.Phe1681=)
17	g.63941239A>T	CA400614275	SCN4A	c.5043T>A (p.Phe1681Leu)
17	g.63941240A>C	CA400614276	SCN4A	c.5042T>G (p.Phe1681Cys)	gnomAD v4
17	g.63941240A>G	CA400614277	SCN4A	c.5042T>C (p.Phe1681Ser)
17	g.63941240A>T	CA400614278	SCN4A	c.5042T>A (p.Phe1681Tyr)
17	g.63941241A>C	CA400614279	SCN4A	c.5041T>G (p.Phe1681Val)
17	g.63941241A>G	CA400614280	SCN4A	c.5041T>C (p.Phe1681Leu)
17	g.63941241A>T	CA400614281	SCN4A	c.5041T>A (p.Phe1681Ile)
17	g.63941242G>A	CA501348064	SCN4A	c.5040C>T (p.Leu1680=)
17	g.63941242G>C	CA501348063	SCN4A	c.5040C>G (p.Leu1680=)
17	g.63941242G>T	CA501348062	SCN4A	c.5040C>A (p.Leu1680=)	COSMIC
17	g.63941243A>C	CA400614282	SCN4A	c.5039T>G (p.Leu1680Arg)
17	g.63941243A>G	CA400614283	SCN4A	c.5039T>C (p.Leu1680Pro)
17	g.63941243A>T	CA400614284	SCN4A	c.5039T>A (p.Leu1680His)
17	g.63941244G>A	CA400614287	SCN4A	c.5038C>T (p.Leu1680Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.63941244G>C	CA400614286	SCN4A	c.5038C>G (p.Leu1680Val)
17	g.63941244G=	CA2270160841	SCN4A	c.5038C= (p.Leu1680=)
17	g.63941244G>T	CA400614285	SCN4A	c.5038C>A (p.Leu1680Ile)
17	g.63941245G>A	CA8708849	SCN4A	c.5037C>T (p.Ile1679=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941245G>C	CA400614288	SCN4A	c.5037C>G (p.Ile1679Met)
17	g.63941245G=	CA2270160842	SCN4A	c.5037C= (p.Ile1679=)
17	g.63941245G>T	CA8708850	SCN4A	c.5037C>A (p.Ile1679=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941246A>C	CA400614289	SCN4A	c.5036T>G (p.Ile1679Ser)
17	g.63941246A>G	CA400614290	SCN4A	c.5036T>C (p.Ile1679Thr)	ClinVar dbSNP gnomAD v4
17	g.63941246A>T	CA400614291	SCN4A	c.5036T>A (p.Ile1679Asn)
17	g.63941247T>A	CA400614293	SCN4A	c.5035A>T (p.Ile1679Phe)	gnomAD v4
17	g.63941247T>C	CA400614292	SCN4A	c.5035A>G (p.Ile1679Val)	ClinVar gnomAD v4
17	g.63941247T>G	CA8708851	SCN4A	c.5035A>C (p.Ile1679Leu)	dbSNP ExAC gnomAD v2
17	g.63941247T=	CA2270160843	SCN4A	c.5035A= (p.Ile1679=)
17	g.63941248G>A	CA501348077	SCN4A	c.5034C>T (p.Asp1678=)	COSMIC
17	g.63941248G>C	CA400614294	SCN4A	c.5034C>G (p.Asp1678Glu)
17	g.63941248G>T	CA400614295	SCN4A	c.5034C>A (p.Asp1678Glu)
17	g.63941249T>A	CA400614296	SCN4A	c.5033A>T (p.Asp1678Val)
17	g.63941249T>C	CA400614297	SCN4A	c.5033A>G (p.Asp1678Gly)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941249T>G	CA400614298	SCN4A	c.5033A>C (p.Asp1678Ala)
17	g.63941249T=	CA2270160844	SCN4A	c.5033A= (p.Asp1678=)
17	g.63941250C>A	CA400614299	SCN4A	c.5032G>T (p.Asp1678Tyr)	gnomAD v4
17	g.63941250C>G	CA400614301	SCN4A	c.5032G>C (p.Asp1678His)
17	g.63941250C>T	CA400614300	SCN4A	c.5032G>A (p.Asp1678Asn)
17	g.63941251del	CA2639323054	SCN4A	c.5032del (p.Asp1678ThrfsTer6)	gnomAD v4
17	g.63941251C>A	CA501348083	SCN4A	c.5031G>T (p.Leu1677=)
17	g.63941251C=	CA2270160845	SCN4A	c.5031G= (p.Leu1677=)
17	g.63941251C>G	CA501348084	SCN4A	c.5031G>C (p.Leu1677=)
17	g.63941251C>T	CA501348085	SCN4A	c.5031G>A (p.Leu1677=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941252A>C	CA400614302	SCN4A	c.5030T>G (p.Leu1677Arg)
17	g.63941252A>G	CA400614303	SCN4A	c.5030T>C (p.Leu1677Pro)
17	g.63941252A>T	CA400614304	SCN4A	c.5030T>A (p.Leu1677Gln)
17	g.63941253G>A	CA8708852	SCN4A	c.5029C>T (p.Leu1677=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941253G>C	CA400614305	SCN4A	c.5029C>G (p.Leu1677Val)
17	g.63941253G=	CA2270160846	SCN4A	c.5029C= (p.Leu1677=)
17	g.63941253G>T	CA400614306	SCN4A	c.5029C>A (p.Leu1677Met)
17	g.63941254G>A	CA501348093	SCN4A	c.5028C>T (p.Cys1676=)
17	g.63941254G>C	CA400614307	SCN4A	c.5028C>G (p.Cys1676Trp)
17	g.63941254G=	CA2270160847	SCN4A	c.5028C= (p.Cys1676=)
17	g.63941254G>T	CA400614308	SCN4A	c.5028C>A (p.Cys1676Ter)	dbSNP
17	g.63941255C>A	CA400614309	SCN4A	c.5027G>T (p.Cys1676Phe)	COSMIC
17	g.63941255C>G	CA400614310	SCN4A	c.5027G>C (p.Cys1676Ser)	ClinVar
17	g.63941255C>T	CA400614311	SCN4A	c.5027G>A (p.Cys1676Tyr)
17	g.63941256A>C	CA400614313	SCN4A	c.5026T>G (p.Cys1676Gly)
17	g.63941256A>G	CA400614314	SCN4A	c.5026T>C (p.Cys1676Arg)
17	g.63941256A>T	CA400614312	SCN4A	c.5026T>A (p.Cys1676Ser)
17	g.63941257G>A	CA501348099	SCN4A	c.5025C>T (p.His1675=)
17	g.63941257G>C	CA400614315	SCN4A	c.5025C>G (p.His1675Gln)
17	g.63941257G=	CA2270160848	SCN4A	c.5025C= (p.His1675=)
17	g.63941257G>T	CA8708853	SCN4A	c.5025C>A (p.His1675Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941258T>A	CA400614316	SCN4A	c.5024A>T (p.His1675Leu)
17	g.63941258T>C	CA400614317	SCN4A	c.5024A>G (p.His1675Arg)	ClinVar
17	g.63941258T>G	CA400614318	SCN4A	c.5024A>C (p.His1675Pro)
17	g.63941259G>A	CA8708854	SCN4A	c.5023C>T (p.His1675Tyr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941259G>C	CA400614319	SCN4A	c.5023C>G (p.His1675Asp)
17	g.63941259G=	CA2270160849	SCN4A	c.5023C= (p.His1675=)
17	g.63941259G>T	CA400614320	SCN4A	c.5023C>A (p.His1675Asn)
17	g.63941260G>A	CA501348111	SCN4A	c.5022C>T (p.Ile1674=)
17	g.63941260G>C	CA400614321	SCN4A	c.5022C>G (p.Ile1674Met)
17	g.63941260G>T	CA501348112	SCN4A	c.5022C>A (p.Ile1674=)
17	g.63941261A>C	CA400614322	SCN4A	c.5021T>G (p.Ile1674Ser)
17	g.63941261A>G	CA400614323	SCN4A	c.5021T>C (p.Ile1674Thr)
17	g.63941261A>T	CA400614324	SCN4A	c.5021T>A (p.Ile1674Asn)
17	g.63941262T>A	CA400614325	SCN4A	c.5020A>T (p.Ile1674Phe)
17	g.63941262T>C	CA8708855	SCN4A	c.5020A>G (p.Ile1674Val)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941262T>G	CA400614326	SCN4A	c.5020A>C (p.Ile1674Leu)
17	g.63941262T=	CA2270160850	SCN4A	c.5020A= (p.Ile1674=)
17	g.63941263C>A	CA400614328	SCN4A	c.5019G>T (p.Lys1673Asn)
17	g.63941263C=	CA2270160851	SCN4A	c.5019G= (p.Lys1673=)
17	g.63941263C>G	CA400614327	SCN4A	c.5019G>C (p.Lys1673Asn)
17	g.63941263C>T	CA8708856	SCN4A	c.5019G>A (p.Lys1673=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941264T>A	CA400614329	SCN4A	c.5018A>T (p.Lys1673Met)
17	g.63941264T>C	CA400614330	SCN4A	c.5018A>G (p.Lys1673Arg)
17	g.63941264T>G	CA400614331	SCN4A	c.5018A>C (p.Lys1673Thr)
17	g.63941265T>A	CA400614332	SCN4A	c.5017A>T (p.Lys1673Ter)	dbSNP
17	g.63941265T>C	CA400614333	SCN4A	c.5017A>G (p.Lys1673Glu)
17	g.63941265T>G	CA400614334	SCN4A	c.5017A>C (p.Lys1673Gln)
17	g.63941265T=	CA2270160852	SCN4A	c.5017A= (p.Lys1673=)
17	g.63941266G>A	CA501348118	SCN4A	c.5016C>T (p.Asp1672=)	dbSNP
17	g.63941266G>C	CA8708857	SCN4A	c.5016C>G (p.Asp1672Glu)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941266G=	CA2270160853	SCN4A	c.5016C= (p.Asp1672=)
17	g.63941266G>T	CA400614335	SCN4A	c.5016C>A (p.Asp1672Glu)	gnomAD v4
17	g.63941267T>A	CA400614336	SCN4A	c.5015A>T (p.Asp1672Val)
17	g.63941267T>C	CA400614337	SCN4A	c.5015A>G (p.Asp1672Gly)	gnomAD v4
17	g.63941267T>G	CA400614338	SCN4A	c.5015A>C (p.Asp1672Ala)
17	g.63941268C>A	CA400614339	SCN4A	c.5014G>T (p.Asp1672Tyr)	dbSNP
17	g.63941268C=	CA2270160854	SCN4A	c.5014G= (p.Asp1672=)
17	g.63941268C>G	CA400614340	SCN4A	c.5014G>C (p.Asp1672His)	gnomAD v4
17	g.63941268C>T	CA400614341	SCN4A	c.5014G>A (p.Asp1672Asn)	gnomAD v4 COSMIC
17	g.63941269C>A	CA501348121	SCN4A	c.5013G>T (p.Gly1671=)
17	g.63941269C>G	CA501348123	SCN4A	c.5013G>C (p.Gly1671=)
17	g.63941269C>T	CA501348124	SCN4A	c.5013G>A (p.Gly1671=)
17	g.63941270C>A	CA400614344	SCN4A	c.5012G>T (p.Gly1671Val)
17	g.63941270C=	CA2270160855	SCN4A	c.5012G= (p.Gly1671=)
17	g.63941270C>G	CA400614343	SCN4A	c.5012G>C (p.Gly1671Ala)
17	g.63941270C>T	CA400614342	SCN4A	c.5012G>A (p.Gly1671Glu)	dbSNP gnomAD v4
17	g.63941271C>A	CA400614345	SCN4A	c.5011G>T (p.Gly1671Trp)
17	g.63941271C=	CA2270160856	SCN4A	c.5011G= (p.Gly1671=)
17	g.63941271C>G	CA400614346	SCN4A	c.5011G>C (p.Gly1671Arg)
17	g.63941271C>T	CA292956639	SCN4A	c.5011G>A (p.Gly1671Arg)	dbSNP COSMIC
17	g.63941272T>A	CA501348128	SCN4A	c.5010A>T (p.Pro1670=)
17	g.63941272T>C	CA8708858	SCN4A	c.5010A>G (p.Pro1670=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941272T>G	CA292956650	SCN4A	c.5010A>C (p.Pro1670=)	dbSNP
17	g.63941272T=	CA2270160857	SCN4A	c.5010A= (p.Pro1670=)

Number of alleles fetched