Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
17	g.63945522G>A	CA501348679	SCN4A	c.3558C>T (p.Phe1186=)
17	g.63945522G>C	CA400618084	SCN4A	c.3558C>G (p.Phe1186Leu)
17	g.63945522G=	CA2270162659	SCN4A	c.3558C= (p.Phe1186=)
17	g.63945522G>T	CA8709235	SCN4A	c.3558C>A (p.Phe1186Leu)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945523A>C	CA400618088	SCN4A	c.3557T>G (p.Phe1186Cys)
17	g.63945523A>G	CA400618091	SCN4A	c.3557T>C (p.Phe1186Ser)
17	g.63945523A>T	CA400618093	SCN4A	c.3557T>A (p.Phe1186Tyr)
17	g.63945524A>C	CA400618096	SCN4A	c.3556T>G (p.Phe1186Val)
17	g.63945524A>G	CA400618097	SCN4A	c.3556T>C (p.Phe1186Leu)	COSMIC
17	g.63945524A>T	CA400618099	SCN4A	c.3556T>A (p.Phe1186Ile)
17	g.63945525C>A	CA400618101	SCN4A	c.3555G>T (p.Lys1185Asn)
17	g.63945525C>G	CA400618104	SCN4A	c.3555G>C (p.Lys1185Asn)
17	g.63945525C>T	CA501348680	SCN4A	c.3555G>A (p.Lys1185=)	gnomAD v4
17	g.63945526T>A	CA400618111	SCN4A	c.3554A>T (p.Lys1185Met)
17	g.63945526T>C	CA400618109	SCN4A	c.3554A>G (p.Lys1185Arg)
17	g.63945526T>G	CA400618106	SCN4A	c.3554A>C (p.Lys1185Thr)
17	g.63945527T>A	CA400618115	SCN4A	c.3553A>T (p.Lys1185Ter)	dbSNP
17	g.63945527T>C	CA400618116	SCN4A	c.3553A>G (p.Lys1185Glu)
17	g.63945527T>G	CA400618119	SCN4A	c.3553A>C (p.Lys1185Gln)
17	g.63945527T=	CA2270162661	SCN4A	c.3553A= (p.Lys1185=)
17	g.63945528G>A	CA501348681	SCN4A	c.3552C>T (p.Gly1184=)
17	g.63945528G>C	CA501348682	SCN4A	c.3552C>G (p.Gly1184=)
17	g.63945528G>T	CA501348683	SCN4A	c.3552C>A (p.Gly1184=)
17	g.63945529C>A	CA400618122	SCN4A	c.3551G>T (p.Gly1184Val)
17	g.63945529C>G	CA400618124	SCN4A	c.3551G>C (p.Gly1184Ala)
17	g.63945529C>T	CA400618126	SCN4A	c.3551G>A (p.Gly1184Asp)
17	g.63945530C>A	CA400618129	SCN4A	c.3550G>T (p.Gly1184Cys)
17	g.63945530C=	CA2270162663	SCN4A	c.3550G= (p.Gly1184=)
17	g.63945530C>G	CA400618131	SCN4A	c.3550G>C (p.Gly1184Arg)	dbSNP gnomAD v2 gnomAD v4
17	g.63945530C>T	CA8709236	SCN4A	c.3550G>A (p.Gly1184Ser)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945531G>A	CA8709237	SCN4A	c.3549C>T (p.Ala1183=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945531G>C	CA501348684	SCN4A	c.3549C>G (p.Ala1183=)
17	g.63945531G=	CA2270162665	SCN4A	c.3549C= (p.Ala1183=)
17	g.63945531G>T	CA501348685	SCN4A	c.3549C>A (p.Ala1183=)	COSMIC
17	g.63945532G>A	CA400618137	SCN4A	c.3548C>T (p.Ala1183Val)	COSMIC
17	g.63945532G>C	CA400618139	SCN4A	c.3548C>G (p.Ala1183Gly)
17	g.63945532G>T	CA400618141	SCN4A	c.3548C>A (p.Ala1183Asp)
17	g.63945533C>A	CA400618148	SCN4A	c.3547G>T (p.Ala1183Ser)
17	g.63945533C>G	CA400618143	SCN4A	c.3547G>C (p.Ala1183Pro)
17	g.63945533C>T	CA400618145	SCN4A	c.3547G>A (p.Ala1183Thr)
17	g.63945534A=	CA2270162667	SCN4A	c.3546T= (p.Phe1182=)
17	g.63945534A>C	CA400618151	SCN4A	c.3546T>G (p.Phe1182Leu)
17	g.63945534A>G	CA8709238	SCN4A	c.3546T>C (p.Phe1182=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
17	g.63945534A>T	CA400618153	SCN4A	c.3546T>A (p.Phe1182Leu)
17	g.63945535A=	CA2270162668	SCN4A	c.3545T= (p.Phe1182=)
17	g.63945535A>C	CA292961704	SCN4A	c.3545T>G (p.Phe1182Cys)	dbSNP
17	g.63945535A>G	CA400618155	SCN4A	c.3545T>C (p.Phe1182Ser)
17	g.63945535A>T	CA400618157	SCN4A	c.3545T>A (p.Phe1182Tyr)
17	g.63945536A>C	CA400618159	SCN4A	c.3544T>G (p.Phe1182Val)
17	g.63945536A>G	CA400618161	SCN4A	c.3544T>C (p.Phe1182Leu)

Number of alleles fetched