Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63941058_63941096dup	CA2639322252	SCN4A	c.5188_5226dup (p.Leu1742_Leu1743insCysAlaIleLysIleGlnArgAlaTyrArgArgHisLeu)	gnomAD v4
17	g.63941080G>A	CA8708819	SCN4A	c.5202C>T (p.Ile1734=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63941080G>C	CA400613464	SCN4A	c.5202C>G (p.Ile1734Met)
17	g.63941080G=	CA2270160764	SCN4A	c.5202C= (p.Ile1734=)
17	g.63941080G>T	CA501348097	SCN4A	c.5202C>A (p.Ile1734=)	dbSNP
17	g.63941081A=	CA2270160765	SCN4A	c.5201T= (p.Ile1734=)
17	g.63941081A>C	CA400613467	SCN4A	c.5201T>G (p.Ile1734Ser)	gnomAD v4
17	g.63941081A>G	CA292956458	SCN4A	c.5201T>C (p.Ile1734Thr)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941081A>T	CA400613470	SCN4A	c.5201T>A (p.Ile1734Asn)
17	g.63941082T>A	CA400613472	SCN4A	c.5200A>T (p.Ile1734Phe)
17	g.63941082T>C	CA400613474	SCN4A	c.5200A>G (p.Ile1734Val)
17	g.63941082T>G	CA400613476	SCN4A	c.5200A>C (p.Ile1734Leu)
17	g.63941083C>A	CA400613478	SCN4A	c.5199G>T (p.Lys1733Asn)
17	g.63941083C>G	CA400613480	SCN4A	c.5199G>C (p.Lys1733Asn)
17	g.63941083C>T	CA501348102	SCN4A	c.5199G>A (p.Lys1733=)
17	g.63941084T>A	CA400613484	SCN4A	c.5198A>T (p.Lys1733Met)
17	g.63941084T>C	CA400613486	SCN4A	c.5198A>G (p.Lys1733Arg)	gnomAD v4
17	g.63941084T>G	CA400613482	SCN4A	c.5198A>C (p.Lys1733Thr)
17	g.63941085T>A	CA400613488	SCN4A	c.5197A>T (p.Lys1733Ter)	dbSNP
17	g.63941085T>C	CA400613490	SCN4A	c.5197A>G (p.Lys1733Glu)
17	g.63941085T>G	CA400613492	SCN4A	c.5197A>C (p.Lys1733Gln)
17	g.63941085T=	CA2270160766	SCN4A	c.5197A= (p.Lys1733=)
17	g.63941086G>A	CA501348209	SCN4A	c.5196C>T (p.Ile1732=)	dbSNP
17	g.63941086G>C	CA400613493	SCN4A	c.5196C>G (p.Ile1732Met)
17	g.63941086G=	CA2270160767	SCN4A	c.5196C= (p.Ile1732=)
17	g.63941086G>T	CA501348210	SCN4A	c.5196C>A (p.Ile1732=)
17	g.63941087A>C	CA400613495	SCN4A	c.5195T>G (p.Ile1732Ser)
17	g.63941087A>G	CA400613497	SCN4A	c.5195T>C (p.Ile1732Thr)
17	g.63941087A>T	CA400613499	SCN4A	c.5195T>A (p.Ile1732Asn)
17	g.63941088T>A	CA400613501	SCN4A	c.5194A>T (p.Ile1732Phe)
17	g.63941088T>C	CA400613503	SCN4A	c.5194A>G (p.Ile1732Val)	gnomAD v4
17	g.63941088T>G	CA400613504	SCN4A	c.5194A>C (p.Ile1732Leu)
17	g.63941089G>A	CA501348211	SCN4A	c.5193C>T (p.Ala1731=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941089G>C	CA501348213	SCN4A	c.5193C>G (p.Ala1731=)
17	g.63941089G=	CA2270160768	SCN4A	c.5193C= (p.Ala1731=)
17	g.63941089G>T	CA501348215	SCN4A	c.5193C>A (p.Ala1731=)
17	g.63941090G>A	CA292956459	SCN4A	c.5192C>T (p.Ala1731Val)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941090G>C	CA400613508	SCN4A	c.5192C>G (p.Ala1731Gly)
17	g.63941090G=	CA2270160769	SCN4A	c.5192C= (p.Ala1731=)
17	g.63941090G>T	CA400613509	SCN4A	c.5192C>A (p.Ala1731Asp)	dbSNP gnomAD v3 gnomAD v4
17	g.63941091C>A	CA400613514	SCN4A	c.5191G>T (p.Ala1731Ser)
17	g.63941091C=	CA2270160770	SCN4A	c.5191G= (p.Ala1731=)
17	g.63941091C>G	CA400613513	SCN4A	c.5191G>C (p.Ala1731Pro)
17	g.63941091C>T	CA8708820	SCN4A	c.5191G>A (p.Ala1731Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941092G>A	CA8708821	SCN4A	c.5190C>T (p.Cys1730=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941092G>C	CA400613516	SCN4A	c.5190C>G (p.Cys1730Trp)	gnomAD v4
17	g.63941092G=	CA2270160771	SCN4A	c.5190C= (p.Cys1730=)
17	g.63941092G>T	CA400613518	SCN4A	c.5190C>A (p.Cys1730Ter)	dbSNP
17	g.63941093C>A	CA400613520	SCN4A	c.5189G>T (p.Cys1730Phe)
17	g.63941093C>G	CA400613522	SCN4A	c.5189G>C (p.Cys1730Ser)
17	g.63941093C>T	CA400613524	SCN4A	c.5189G>A (p.Cys1730Tyr)
17	g.63941094A=	CA2270160772	SCN4A	c.5188T= (p.Cys1730=)
17	g.63941094A>C	CA400613527	SCN4A	c.5188T>G (p.Cys1730Gly)
17	g.63941094A>G	CA400613529	SCN4A	c.5188T>C (p.Cys1730Arg)	ClinVar dbSNP
17	g.63941094A>T	CA400613531	SCN4A	c.5188T>A (p.Cys1730Ser)	gnomAD v4
17	g.63941095C>A	CA501348222	SCN4A	c.5187G>T (p.Val1729=)
17	g.63941095C=	CA2270160773	SCN4A	c.5187G= (p.Val1729=)
17	g.63941095C>G	CA8708822	SCN4A	c.5187G>C (p.Val1729=)	dbSNP ExAC gnomAD v2
17	g.63941095C>T	CA501348221	SCN4A	c.5187G>A (p.Val1729=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941096A=	CA2270160774	SCN4A	c.5186T= (p.Val1729=)
17	g.63941096A>C	CA400613534	SCN4A	c.5186T>G (p.Val1729Gly)
17	g.63941096A>G	CA8708823	SCN4A	c.5186T>C (p.Val1729Ala)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941096A>T	CA400613537	SCN4A	c.5186T>A (p.Val1729Glu)
17	g.63941096_63941099delinsACCT	CA2270160775	SCN4A	c.5183_5186delinsAGGT (p.Glu1728=)
17	g.63941097C>A	CA400613542	SCN4A	c.5185G>T (p.Val1729Leu)
17	g.63941097C=	CA2270160777	SCN4A	c.5185G= (p.Val1729=)
17	g.63941097C>G	CA400613540	SCN4A	c.5185G>C (p.Val1729Leu)
17	g.63941097C>T	CA8708824	SCN4A	c.5185G>A (p.Val1729Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941101_63941103del	CA2270160776	SCN4A	c.5183_5185del (p.Glu1728del)	dbSNP
17	g.63941098C>A	CA400613545	SCN4A	c.5184G>T (p.Glu1728Asp)
17	g.63941098C>G	CA400613547	SCN4A	c.5184G>C (p.Glu1728Asp)
17	g.63941098C>T	CA501348224	SCN4A	c.5184G>A (p.Glu1728=)
17	g.63941099T>A	CA400613549	SCN4A	c.5183A>T (p.Glu1728Val)
17	g.63941099T>C	CA400613553	SCN4A	c.5183A>G (p.Glu1728Gly)
17	g.63941099T>G	CA400613551	SCN4A	c.5183A>C (p.Glu1728Ala)	gnomAD v4
17	g.63941100C>A	CA400613556	SCN4A	c.5182G>T (p.Glu1728Ter)	dbSNP
17	g.63941100C=	CA2270160778	SCN4A	c.5182G= (p.Glu1728=)
17	g.63941100C>G	CA400613558	SCN4A	c.5182G>C (p.Glu1728Gln)
17	g.63941100C>T	CA400613561	SCN4A	c.5182G>A (p.Glu1728Lys)	gnomAD v4
17	g.63941101C>A	CA400613564	SCN4A	c.5181G>T (p.Glu1727Asp)
17	g.63941101C=	CA2270160779	SCN4A	c.5181G= (p.Glu1727=)
17	g.63941101C>G	CA400613566	SCN4A	c.5181G>C (p.Glu1727Asp)
17	g.63941101C>T	CA8708825	SCN4A	c.5181G>A (p.Glu1727=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941102T>A	CA400613573	SCN4A	c.5180A>T (p.Glu1727Val)
17	g.63941102T>C	CA400613575	SCN4A	c.5180A>G (p.Glu1727Gly)
17	g.63941102T>G	CA400613578	SCN4A	c.5180A>C (p.Glu1727Ala)
17	g.63941103C>A	CA400613582	SCN4A	c.5179G>T (p.Glu1727Ter)
17	g.63941103C=	CA2270160780	SCN4A	c.5179G= (p.Glu1727=)
17	g.63941103C>G	CA400613584	SCN4A	c.5179G>C (p.Glu1727Gln)
17	g.63941103C>T	CA8708826	SCN4A	c.5179G>A (p.Glu1727Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63941104G>A	CA501348236	SCN4A	c.5178C>T (p.His1726=)	ClinVar dbSNP gnomAD v2 gnomAD v4
17	g.63941104G>C	CA400613590	SCN4A	c.5178C>G (p.His1726Gln)
17	g.63941104G=	CA2270160781	SCN4A	c.5178C= (p.His1726=)
17	g.63941104G>T	CA8708827	SCN4A	c.5178C>A (p.His1726Gln)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941105T>A	CA400613594	SCN4A	c.5177A>T (p.His1726Leu)
17	g.63941105T>C	CA400613597	SCN4A	c.5177A>G (p.His1726Arg)	ClinVar dbSNP
17	g.63941105T>G	CA400613599	SCN4A	c.5177A>C (p.His1726Pro)
17	g.63941105T=	CA2270160782	SCN4A	c.5177A= (p.His1726=)
17	g.63941106G>A	CA400613603	SCN4A	c.5176C>T (p.His1726Tyr)
17	g.63941106G>C	CA400613605	SCN4A	c.5176C>G (p.His1726Asp)	gnomAD v4
17	g.63941106G=	CA2270160783	SCN4A	c.5176C= (p.His1726=)
17	g.63941106G>T	CA400613609	SCN4A	c.5176C>A (p.His1726Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.63941107C>A	CA400613612	SCN4A	c.5175G>T (p.Lys1725Asn)
17	g.63941107C>G	CA400613615	SCN4A	c.5175G>C (p.Lys1725Asn)
17	g.63941107C>T	CA501348242	SCN4A	c.5175G>A (p.Lys1725=)
17	g.63941108T>A	CA400613618	SCN4A	c.5174A>T (p.Lys1725Met)	gnomAD v4
17	g.63941108T>C	CA400613619	SCN4A	c.5174A>G (p.Lys1725Arg)
17	g.63941108T>G	CA400613621	SCN4A	c.5174A>C (p.Lys1725Thr)
17	g.63941109T>A	CA400613628	SCN4A	c.5173A>T (p.Lys1725Ter)	dbSNP
17	g.63941109T>C	CA400613626	SCN4A	c.5173A>G (p.Lys1725Glu)
17	g.63941109T>G	CA400613625	SCN4A	c.5173A>C (p.Lys1725Gln)	dbSNP gnomAD v2 gnomAD v4
17	g.63941109T=	CA2270160784	SCN4A	c.5173A= (p.Lys1725=)
17	g.63941110C>A	CA400613631	SCN4A	c.5172G>T (p.Arg1724Ser)
17	g.63941110C>G	CA400613634	SCN4A	c.5172G>C (p.Arg1724Ser)
17	g.63941110C>T	CA501348247	SCN4A	c.5172G>A (p.Arg1724=)	ClinVar
17	g.63941111C>A	CA400613638	SCN4A	c.5171G>T (p.Arg1724Met)
17	g.63941111C=	CA2270160785	SCN4A	c.5171G= (p.Arg1724=)
17	g.63941111C>G	CA400613641	SCN4A	c.5171G>C (p.Arg1724Thr)
17	g.63941111C>T	CA8708828	SCN4A	c.5171G>A (p.Arg1724Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941112T>A	CA400613645	SCN4A	c.5170A>T (p.Arg1724Trp)
17	g.63941112T>C	CA400613648	SCN4A	c.5170A>G (p.Arg1724Gly)
17	g.63941112T>G	CA501348252	SCN4A	c.5170A>C (p.Arg1724=)
17	g.63941113C>A	CA400613651	SCN4A	c.5169G>T (p.Lys1723Asn)
17	g.63941113C=	CA2270160786	SCN4A	c.5169G= (p.Lys1723=)
17	g.63941113C>G	CA400613654	SCN4A	c.5169G>C (p.Lys1723Asn)	dbSNP gnomAD v2 gnomAD v4
17	g.63941113C>T	CA501348256	SCN4A	c.5169G>A (p.Lys1723=)	ClinVar dbSNP
17	g.63941114T>A	CA400613658	SCN4A	c.5168A>T (p.Lys1723Met)
17	g.63941114T>C	CA400613661	SCN4A	c.5168A>G (p.Lys1723Arg)
17	g.63941114T>G	CA400613664	SCN4A	c.5168A>C (p.Lys1723Thr)
17	g.63941115T>A	CA400613672	SCN4A	c.5167A>T (p.Lys1723Ter)	dbSNP
17	g.63941115T>C	CA400613666	SCN4A	c.5167A>G (p.Lys1723Glu)	COSMIC
17	g.63941115T>G	CA400613670	SCN4A	c.5167A>C (p.Lys1723Gln)
17	g.63941115T=	CA2270160787	SCN4A	c.5167A= (p.Lys1723=)
17	g.63941116G>A	CA501348259	SCN4A	c.5166C>T (p.Leu1722=)	gnomAD v4
17	g.63941116G>C	CA501348260	SCN4A	c.5166C>G (p.Leu1722=)
17	g.63941116G>T	CA501348263	SCN4A	c.5166C>A (p.Leu1722=)
17	g.63941117A>C	CA400613677	SCN4A	c.5165T>G (p.Leu1722Arg)
17	g.63941117A>G	CA400613680	SCN4A	c.5165T>C (p.Leu1722Pro)	ClinVar gnomAD v4
17	g.63941117A>T	CA400613683	SCN4A	c.5165T>A (p.Leu1722His)
17	g.63941118G>A	CA400613688	SCN4A	c.5164C>T (p.Leu1722Phe)	gnomAD v4
17	g.63941118G>C	CA400613691	SCN4A	c.5164C>G (p.Leu1722Val)
17	g.63941118G>T	CA400613695	SCN4A	c.5164C>A (p.Leu1722Ile)
17	g.63941119G>A	CA501348265	SCN4A	c.5163C>T (p.Thr1721=)	dbSNP COSMIC
17	g.63941119G>C	CA501348266	SCN4A	c.5163C>G (p.Thr1721=)
17	g.63941119G=	CA2270160788	SCN4A	c.5163C= (p.Thr1721=)
17	g.63941119G>T	CA501348269	SCN4A	c.5163C>A (p.Thr1721=)
17	g.63941120G>A	CA400613697	SCN4A	c.5162C>T (p.Thr1721Ile)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941120G>C	CA400613700	SCN4A	c.5162C>G (p.Thr1721Ser)
17	g.63941120G=	CA2270160789	SCN4A	c.5162C= (p.Thr1721=)
17	g.63941120G>T	CA400613703	SCN4A	c.5162C>A (p.Thr1721Asn)	gnomAD v4
17	g.63941121T>A	CA400613707	SCN4A	c.5161A>T (p.Thr1721Ser)
17	g.63941121T>C	CA400613709	SCN4A	c.5161A>G (p.Thr1721Ala)	gnomAD v4
17	g.63941121T>G	CA400613711	SCN4A	c.5161A>C (p.Thr1721Pro)	dbSNP
17	g.63941121T=	CA2270160790	SCN4A	c.5161A= (p.Thr1721=)
17	g.63941122G>A	CA501348276	SCN4A	c.5160C>T (p.Thr1720=)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941122G>C	CA501348275	SCN4A	c.5160C>G (p.Thr1720=)
17	g.63941122G=	CA2270160791	SCN4A	c.5160C= (p.Thr1720=)
17	g.63941122G>T	CA501348274	SCN4A	c.5160C>A (p.Thr1720=)
17	g.63941123G>A	CA400613715	SCN4A	c.5159C>T (p.Thr1720Ile)
17	g.63941123G>C	CA400613718	SCN4A	c.5159C>G (p.Thr1720Ser)
17	g.63941123G>T	CA400613713	SCN4A	c.5159C>A (p.Thr1720Asn)
17	g.63941124T>A	CA400613728	SCN4A	c.5158A>T (p.Thr1720Ser)
17	g.63941124T>C	CA400613722	SCN4A	c.5158A>G (p.Thr1720Ala)
17	g.63941124T>G	CA400613725	SCN4A	c.5158A>C (p.Thr1720Pro)
17	g.63941125G>A	CA501348283	SCN4A	c.5157C>T (p.Thr1719=)
17	g.63941125G>C	CA501348281	SCN4A	c.5157C>G (p.Thr1719=)
17	g.63941125G=	CA2270160792	SCN4A	c.5157C= (p.Thr1719=)
17	g.63941125G>T	CA292956491	SCN4A	c.5157C>A (p.Thr1719=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941126G>A	CA400613733	SCN4A	c.5156C>T (p.Thr1719Ile)	dbSNP gnomAD v2 gnomAD v4
17	g.63941126G>C	CA400613735	SCN4A	c.5156C>G (p.Thr1719Ser)	gnomAD v4
17	g.63941126G=	CA2270160793	SCN4A	c.5156C= (p.Thr1719=)
17	g.63941126G>T	CA8708829	SCN4A	c.5156C>A (p.Thr1719Asn)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941127T>A	CA400613741	SCN4A	c.5155A>T (p.Thr1719Ser)
17	g.63941127T>C	CA400613744	SCN4A	c.5155A>G (p.Thr1719Ala)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941127T>G	CA400613746	SCN4A	c.5155A>C (p.Thr1719Pro)	dbSNP
17	g.63941127T=	CA2270160794	SCN4A	c.5155A= (p.Thr1719=)
17	g.63941128G>A	CA501348290	SCN4A	c.5154C>T (p.Ile1718=)
17	g.63941128G>C	CA400613749	SCN4A	c.5154C>G (p.Ile1718Met)	ClinVar dbSNP
17	g.63941128G>T	CA501348291	SCN4A	c.5154C>A (p.Ile1718=)
17	g.63941129A>C	CA400613754	SCN4A	c.5153T>G (p.Ile1718Ser)
17	g.63941129A>G	CA400613757	SCN4A	c.5153T>C (p.Ile1718Thr)
17	g.63941129A>T	CA400613759	SCN4A	c.5153T>A (p.Ile1718Asn)
17	g.63941130T>A	CA400613762	SCN4A	c.5152A>T (p.Ile1718Phe)
17	g.63941130T>C	CA400613768	SCN4A	c.5152A>G (p.Ile1718Val)
17	g.63941130T>G	CA400613765	SCN4A	c.5152A>C (p.Ile1718Leu)
17	g.63941131G>A	CA501348299	SCN4A	c.5151C>T (p.Pro1717=)
17	g.63941131G>C	CA501348300	SCN4A	c.5151C>G (p.Pro1717=)
17	g.63941131G>T	CA501348301	SCN4A	c.5151C>A (p.Pro1717=)	gnomAD v4
17	g.63941132G>A	CA400613771	SCN4A	c.5150C>T (p.Pro1717Leu)
17	g.63941132G>C	CA400613773	SCN4A	c.5150C>G (p.Pro1717Arg)
17	g.63941132G>T	CA400613775	SCN4A	c.5150C>A (p.Pro1717His)
17	g.63941133G>A	CA400613779	SCN4A	c.5149C>T (p.Pro1717Ser)
17	g.63941133G>C	CA400613781	SCN4A	c.5149C>G (p.Pro1717Ala)
17	g.63941133G>T	CA400613783	SCN4A	c.5149C>A (p.Pro1717Thr)
17	g.63941134C>A	CA400613785	SCN4A	c.5148G>T (p.Glu1716Asp)
17	g.63941134C=	CA2270160795	SCN4A	c.5148G= (p.Glu1716=)
17	g.63941134C>G	CA400613788	SCN4A	c.5148G>C (p.Glu1716Asp)
17	g.63941134C>T	CA501348304	SCN4A	c.5148G>A (p.Glu1716=)	ClinVar dbSNP gnomAD v3 gnomAD v4
17	g.63941135T>A	CA400613790	SCN4A	c.5147A>T (p.Glu1716Val)
17	g.63941135T>C	CA400613792	SCN4A	c.5147A>G (p.Glu1716Gly)
17	g.63941135T>G	CA400613794	SCN4A	c.5147A>C (p.Glu1716Ala)
17	g.63941136C>A	CA400613799	SCN4A	c.5146G>T (p.Glu1716Ter)	dbSNP
17	g.63941136C=	CA2270160796	SCN4A	c.5146G= (p.Glu1716=)
17	g.63941136C>G	CA400613803	SCN4A	c.5146G>C (p.Glu1716Gln)
17	g.63941136C>T	CA8708830	SCN4A	c.5146G>A (p.Glu1716Lys)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941137G>A	CA8708831	SCN4A	c.5145C>T (p.Tyr1715=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941137G>C	CA400613807	SCN4A	c.5145C>G (p.Tyr1715Ter)
17	g.63941137G=	CA2270160797	SCN4A	c.5145C= (p.Tyr1715=)
17	g.63941137G>T	CA400613810	SCN4A	c.5145C>A (p.Tyr1715Ter)
17	g.63941138T>A	CA400613812	SCN4A	c.5144A>T (p.Tyr1715Phe)
17	g.63941138T>C	CA400613815	SCN4A	c.5144A>G (p.Tyr1715Cys)
17	g.63941138T>G	CA400613817	SCN4A	c.5144A>C (p.Tyr1715Ser)	gnomAD v4
17	g.63941139A>C	CA400613822	SCN4A	c.5143T>G (p.Tyr1715Asp)
17	g.63941139A>G	CA400613823	SCN4A	c.5143T>C (p.Tyr1715His)
17	g.63941139A>T	CA400613824	SCN4A	c.5143T>A (p.Tyr1715Asn)
17	g.63941140G>A	CA501348316	SCN4A	c.5142C>T (p.Ser1714=)	ClinVar dbSNP gnomAD v4
17	g.63941140G>C	CA501348319	SCN4A	c.5142C>G (p.Ser1714=)
17	g.63941140G>T	CA501348321	SCN4A	c.5142C>A (p.Ser1714=)
17	g.63941141G>A	CA400613827	SCN4A	c.5141C>T (p.Ser1714Phe)
17	g.63941141G>C	CA400613830	SCN4A	c.5141C>G (p.Ser1714Cys)	gnomAD v4
17	g.63941141G>T	CA400613833	SCN4A	c.5141C>A (p.Ser1714Tyr)
17	g.63941142A>C	CA400613838	SCN4A	c.5140T>G (p.Ser1714Ala)
17	g.63941142A>G	CA400613839	SCN4A	c.5140T>C (p.Ser1714Pro)
17	g.63941142A>T	CA400613837	SCN4A	c.5140T>A (p.Ser1714Thr)
17	g.63941143C>A	CA501348322	SCN4A	c.5139G>T (p.Val1713=)	COSMIC
17	g.63941143C=	CA2270160798	SCN4A	c.5139G= (p.Val1713=)
17	g.63941143C>G	CA501348324	SCN4A	c.5139G>C (p.Val1713=)
17	g.63941143C>T	CA501348323	SCN4A	c.5139G>A (p.Val1713=)	dbSNP gnomAD v3 gnomAD v4
17	g.63941144A>C	CA400613840	SCN4A	c.5138T>G (p.Val1713Gly)
17	g.63941144A>G	CA400613841	SCN4A	c.5138T>C (p.Val1713Ala)
17	g.63941144A>T	CA400613842	SCN4A	c.5138T>A (p.Val1713Glu)
17	g.63941145C>A	CA400613844	SCN4A	c.5137G>T (p.Val1713Leu)
17	g.63941145C>G	CA400613846	SCN4A	c.5137G>C (p.Val1713Leu)
17	g.63941145C>T	CA400613848	SCN4A	c.5137G>A (p.Val1713Met)
17	g.63941146C>A	CA400613855	SCN4A	c.5136G>T (p.Lys1712Asn)	dbSNP
17	g.63941146C=	CA2270160799	SCN4A	c.5136G= (p.Lys1712=)
17	g.63941146C>G	CA400613852	SCN4A	c.5136G>C (p.Lys1712Asn)
17	g.63941146C>T	CA501348325	SCN4A	c.5136G>A (p.Lys1712=)	dbSNP gnomAD v2 gnomAD v4
17	g.63941147T>A	CA400613859	SCN4A	c.5135A>T (p.Lys1712Met)
17	g.63941147T>C	CA400613862	SCN4A	c.5135A>G (p.Lys1712Arg)
17	g.63941147T>G	CA400613865	SCN4A	c.5135A>C (p.Lys1712Thr)
17	g.63941148T>A	CA400613868	SCN4A	c.5134A>T (p.Lys1712Ter)	dbSNP
17	g.63941148T>C	CA400613869	SCN4A	c.5134A>G (p.Lys1712Glu)	gnomAD v4 COSMIC
17	g.63941148T>G	CA400613871	SCN4A	c.5134A>C (p.Lys1712Gln)
17	g.63941148T=	CA2270160800	SCN4A	c.5134A= (p.Lys1712=)
17	g.63941149G>A	CA8708832	SCN4A	c.5133C>T (p.Ser1711=)	dbSNP ExAC gnomAD v2 gnomAD v4
17	g.63941149G>C	CA501348333	SCN4A	c.5133C>G (p.Ser1711=)
17	g.63941149G=	CA2270160801	SCN4A	c.5133C= (p.Ser1711=)
17	g.63941149G>T	CA501348334	SCN4A	c.5133C>A (p.Ser1711=)
17	g.63941150G>A	CA292956504	SCN4A	c.5132C>T (p.Ser1711Phe)	dbSNP gnomAD v2 gnomAD v4
17	g.63941150G>C	CA400613880	SCN4A	c.5132C>G (p.Ser1711Cys)
17	g.63941150G=	CA2270160802	SCN4A	c.5132C= (p.Ser1711=)
17	g.63941150G>T	CA400613876	SCN4A	c.5132C>A (p.Ser1711Tyr)	gnomAD v4 COSMIC
17	g.63941151A>C	CA400613886	SCN4A	c.5131T>G (p.Ser1711Ala)
17	g.63941151A>G	CA400613883	SCN4A	c.5131T>C (p.Ser1711Pro)
17	g.63941151A>T	CA400613889	SCN4A	c.5131T>A (p.Ser1711Thr)
17	g.63941152G>A	CA501348341	SCN4A	c.5130C>T (p.Pro1710=)	ClinVar
17	g.63941152G>C	CA501348342	SCN4A	c.5130C>G (p.Pro1710=)
17	g.63941152G>T	CA501348344	SCN4A	c.5130C>A (p.Pro1710=)
17	g.63941153G>A	CA400613894	SCN4A	c.5129C>T (p.Pro1710Leu)	dbSNP gnomAD v4
17	g.63941153G>C	CA400613899	SCN4A	c.5129C>G (p.Pro1710Arg)
17	g.63941153G=	CA2270160803	SCN4A	c.5129C= (p.Pro1710=)
17	g.63941153G>T	CA400613896	SCN4A	c.5129C>A (p.Pro1710His)
17	g.63941154G>A	CA8708833	SCN4A	c.5128C>T (p.Pro1710Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941154G>C	CA400613904	SCN4A	c.5128C>G (p.Pro1710Ala)
17	g.63941154G=	CA2270160804	SCN4A	c.5128C= (p.Pro1710=)
17	g.63941154G>T	CA400613905	SCN4A	c.5128C>A (p.Pro1710Thr)	dbSNP gnomAD v3 gnomAD v4
17	g.63941154_63941162delinsACA	CA2580094603	SCN4A	c.5120_5128delinsTGT (p.Ala1707_Pro1710delinsValSer)	ClinVar dbSNP
17	g.63941155G>A	CA501348349	SCN4A	c.5127C>T (p.Asn1709=)	gnomAD v4
17	g.63941155G>C	CA400613909	SCN4A	c.5127C>G (p.Asn1709Lys)
17	g.63941155G=	CA2270160805	SCN4A	c.5127C= (p.Asn1709=)
17	g.63941155G>T	CA292956520	SCN4A	c.5127C>A (p.Asn1709Lys)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941156T>A	CA400613914	SCN4A	c.5126A>T (p.Asn1709Ile)
17	g.63941156T>C	CA8708834	SCN4A	c.5126A>G (p.Asn1709Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941156T>G	CA400613918	SCN4A	c.5126A>C (p.Asn1709Thr)	dbSNP
17	g.63941156T=	CA2270160806	SCN4A	c.5126A= (p.Asn1709=)
17	g.63941157T>A	CA400613921	SCN4A	c.5125A>T (p.Asn1709Tyr)
17	g.63941157T>C	CA400613924	SCN4A	c.5125A>G (p.Asn1709Asp)
17	g.63941157T>G	CA400613927	SCN4A	c.5125A>C (p.Asn1709His)	ClinVar gnomAD v4
17	g.63941158G>A	CA501348353	SCN4A	c.5124C>T (p.Ala1708=)	ClinVar dbSNP
17	g.63941158G>C	CA501348354	SCN4A	c.5124C>G (p.Ala1708=)
17	g.63941158G=	CA2270160807	SCN4A	c.5124C= (p.Ala1708=)
17	g.63941158G>T	CA501348355	SCN4A	c.5124C>A (p.Ala1708=)
17	g.63941159G>A	CA400613935	SCN4A	c.5123C>T (p.Ala1708Val)
17	g.63941159G>C	CA400613932	SCN4A	c.5123C>G (p.Ala1708Gly)	dbSNP
17	g.63941159G=	CA2270160808	SCN4A	c.5123C= (p.Ala1708=)
17	g.63941159G>T	CA400613929	SCN4A	c.5123C>A (p.Ala1708Asp)
17	g.63941160C>A	CA400613939	SCN4A	c.5122G>T (p.Ala1708Ser)
17	g.63941160C>G	CA400613942	SCN4A	c.5122G>C (p.Ala1708Pro)
17	g.63941160C>T	CA400613944	SCN4A	c.5122G>A (p.Ala1708Thr)
17	g.63941161T>A	CA501348358	SCN4A	c.5121A>T (p.Ala1707=)
17	g.63941161T>C	CA501348360	SCN4A	c.5121A>G (p.Ala1707=)	dbSNP
17	g.63941161T>G	CA501348361	SCN4A	c.5121A>C (p.Ala1707=)	gnomAD v4
17	g.63941161T=	CA2270160809	SCN4A	c.5121A= (p.Ala1707=)
17	g.63941162G>A	CA400613949	SCN4A	c.5120C>T (p.Ala1707Val)	ClinVar gnomAD v4
17	g.63941162G>C	CA400613952	SCN4A	c.5120C>G (p.Ala1707Gly)
17	g.63941162G>T	CA400613955	SCN4A	c.5120C>A (p.Ala1707Glu)
17	g.63941163C>A	CA400613957	SCN4A	c.5119G>T (p.Ala1707Ser)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941163C=	CA2270160810	SCN4A	c.5119G= (p.Ala1707=)
17	g.63941163C>G	CA400613960	SCN4A	c.5119G>C (p.Ala1707Pro)
17	g.63941163C>T	CA400613963	SCN4A	c.5119G>A (p.Ala1707Thr)
17	g.63941164C>A	CA400613966	SCN4A	c.5118G>T (p.Met1706Ile)
17	g.63941164C>G	CA400613969	SCN4A	c.5118G>C (p.Met1706Ile)
17	g.63941164C>T	CA400613972	SCN4A	c.5118G>A (p.Met1706Ile)
17	g.63941165A=	CA2270160811	SCN4A	c.5117T= (p.Met1706=)
17	g.63941165A>C	CA400613978	SCN4A	c.5117T>G (p.Met1706Arg)
17	g.63941165A>G	CA8708835	SCN4A	c.5117T>C (p.Met1706Thr)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63941165A>T	CA400613975	SCN4A	c.5117T>A (p.Met1706Lys)
17	g.63941166T>A	CA400613985	SCN4A	c.5116A>T (p.Met1706Leu)	gnomAD v4
17	g.63941166T>C	CA400613981	SCN4A	c.5116A>G (p.Met1706Val)
17	g.63941166T>G	CA400613984	SCN4A	c.5116A>C (p.Met1706Leu)
17	g.63941167G>A	CA501348369	SCN4A	c.5115C>T (p.Phe1705=)
17	g.63941167G>C	CA400613988	SCN4A	c.5115C>G (p.Phe1705Leu)
17	g.63941167G=	CA2270160812	SCN4A	c.5115C= (p.Phe1705=)
17	g.63941167G>T	CA400613990	SCN4A	c.5115C>A (p.Phe1705Leu)	ClinVar dbSNP
17	g.63941168A>C	CA400613992	SCN4A	c.5114T>G (p.Phe1705Cys)
17	g.63941168A>G	CA400613995	SCN4A	c.5114T>C (p.Phe1705Ser)
17	g.63941168A>T	CA400613997	SCN4A	c.5114T>A (p.Phe1705Tyr)
17	g.63941169A=	CA2270160813	SCN4A	c.5113T= (p.Phe1705=)
17	g.63941169A>C	CA400614000	SCN4A	c.5113T>G (p.Phe1705Val)
17	g.63941169A>G	CA400614003	SCN4A	c.5113T>C (p.Phe1705Leu)	gnomAD v4
17	g.63941169A>T	CA16620553	SCN4A	c.5113T>A (p.Phe1705Ile)	ClinVar dbSNP
17	g.63941169_63941172delinsACTT	CA2270160814	SCN4A	c.5110_5113delinsAAGT (p.Lys1704=)
17	g.63941170C>A	CA400614007	SCN4A	c.5112G>T (p.Lys1704Asn)
17	g.63941170C>G	CA400614009	SCN4A	c.5112G>C (p.Lys1704Asn)
17	g.63941170C>T	CA501348371	SCN4A	c.5112G>A (p.Lys1704=)
17	g.63941172_63941174del	CA915950729	SCN4A	c.5110_5112del (p.Lys1704del)	ClinVar dbSNP
17	g.63941171T>A	CA400614015	SCN4A	c.5111A>T (p.Lys1704Met)
17	g.63941171T>C	CA400614013	SCN4A	c.5111A>G (p.Lys1704Arg)
17	g.63941171T>G	CA400614011	SCN4A	c.5111A>C (p.Lys1704Thr)
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)

Number of alleles fetched