Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63945422A>C	CA400617810	SCN4A	c.3658T>G (p.Trp1220Gly)
17	g.63945422A>G	CA400617811	SCN4A	c.3658T>C (p.Trp1220Arg)
17	g.63945422A>T	CA400617812	SCN4A	c.3658T>A (p.Trp1220Arg)
17	g.63945423G>A	CA501348628	SCN4A	c.3657C>T (p.Arg1219=)	ClinVar dbSNP gnomAD v4
17	g.63945423G>C	CA501348629	SCN4A	c.3657C>G (p.Arg1219=)	gnomAD v4
17	g.63945423G=	CA2270162548	SCN4A	c.3657C= (p.Arg1219=)
17	g.63945423G>T	CA501348630	SCN4A	c.3657C>A (p.Arg1219=)
17	g.63945424C>A	CA400617815	SCN4A	c.3656G>T (p.Arg1219Leu)
17	g.63945424C=	CA2270162552	SCN4A	c.3656G= (p.Arg1219=)
17	g.63945424C>G	CA400617814	SCN4A	c.3656G>C (p.Arg1219Pro)
17	g.63945424C>T	CA400617813	SCN4A	c.3656G>A (p.Arg1219His)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
17	g.63945425G>A	CA8709213	SCN4A	c.3655C>T (p.Arg1219Cys)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63945425G>C	CA400617816	SCN4A	c.3655C>G (p.Arg1219Gly)
17	g.63945425G=	CA2270162555	SCN4A	c.3655C= (p.Arg1219=)
17	g.63945425G>T	CA400617817	SCN4A	c.3655C>A (p.Arg1219Ser)
17	g.63945426G>A	CA501348631	SCN4A	c.3654C>T (p.Val1218=)
17	g.63945426G>C	CA501348632	SCN4A	c.3654C>G (p.Val1218=)
17	g.63945426G>T	CA501348633	SCN4A	c.3654C>A (p.Val1218=)
17	g.63945427A>C	CA400617818	SCN4A	c.3653T>G (p.Val1218Gly)
17	g.63945427A>G	CA400617819	SCN4A	c.3653T>C (p.Val1218Ala)
17	g.63945427A>T	CA400617820	SCN4A	c.3653T>A (p.Val1218Asp)
17	g.63945428C>A	CA8709214	SCN4A	c.3652G>T (p.Val1218Phe)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
17	g.63945428C=	CA2270162557	SCN4A	c.3652G= (p.Val1218=)
17	g.63945428C>G	CA400617821	SCN4A	c.3652G>C (p.Val1218Leu)
17	g.63945428C>T	CA400617822	SCN4A	c.3652G>A (p.Val1218Ile)
17	g.63945429C>A	CA400617823	SCN4A	c.3651G>T (p.Gln1217His)
17	g.63945429C=	CA2270162559	SCN4A	c.3651G= (p.Gln1217=)
17	g.63945429C>G	CA400617824	SCN4A	c.3651G>C (p.Gln1217His)	dbSNP gnomAD v2
17	g.63945429C>T	CA501348634	SCN4A	c.3651G>A (p.Gln1217=)	gnomAD v4
17	g.63945430T>A	CA400617825	SCN4A	c.3650A>T (p.Gln1217Leu)
17	g.63945430T>C	CA400617826	SCN4A	c.3650A>G (p.Gln1217Arg)
17	g.63945430T>G	CA400617827	SCN4A	c.3650A>C (p.Gln1217Pro)
17	g.63945431G>A	CA400617828	SCN4A	c.3649C>T (p.Gln1217Ter)
17	g.63945431G>C	CA292961610	SCN4A	c.3649C>G (p.Gln1217Glu)	dbSNP gnomAD v3 gnomAD v4
17	g.63945431G=	CA2270162561	SCN4A	c.3649C= (p.Gln1217=)
17	g.63945431G>T	CA8709215	SCN4A	c.3649C>A (p.Gln1217Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945432G>A	CA501348635	SCN4A	c.3648C>T (p.Gly1216=)	dbSNP gnomAD v2 gnomAD v4
17	g.63945432G>C	CA501348636	SCN4A	c.3648C>G (p.Gly1216=)	gnomAD v4
17	g.63945432G=	CA2270162565	SCN4A	c.3648C= (p.Gly1216=)
17	g.63945432G>T	CA501348637	SCN4A	c.3648C>A (p.Gly1216=)
17	g.63945433C>A	CA400617829	SCN4A	c.3647G>T (p.Gly1216Val)
17	g.63945433C>G	CA400617830	SCN4A	c.3647G>C (p.Gly1216Ala)
17	g.63945433C>T	CA400617831	SCN4A	c.3647G>A (p.Gly1216Asp)
17	g.63945434C>A	CA400617832	SCN4A	c.3646G>T (p.Gly1216Cys)
17	g.63945434C>G	CA400617833	SCN4A	c.3646G>C (p.Gly1216Arg)
17	g.63945434C>T	CA400617834	SCN4A	c.3646G>A (p.Gly1216Ser)
17	g.63945435T>A	CA501348638	SCN4A	c.3645A>T (p.Thr1215=)
17	g.63945435T>C	CA501348639	SCN4A	c.3645A>G (p.Thr1215=)
17	g.63945435T>G	CA501348640	SCN4A	c.3645A>C (p.Thr1215=)	gnomAD v4
17	g.63945436G>A	CA400617835	SCN4A	c.3644C>T (p.Thr1215Ile)

Number of alleles fetched