Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.23215237G>A	CA119950	SCNN1G	c.1718G>A (p.Trp573Ter)	ClinVar dbSNP
16	g.23215237G>C	CA395103525	SCNN1G	c.1718G>C (p.Trp573Ser)
16	g.23215237G=	CA2213236827	SCNN1G	c.1718G= (p.Trp573=)
16	g.23215237G>T	CA395103526	SCNN1G	c.1718G>T (p.Trp573Leu)
16	g.23215238G>A	CA395103529	SCNN1G	c.1719G>A (p.Trp573Ter)
16	g.23215238G>C	CA395103528	SCNN1G	c.1719G>C (p.Trp573Cys)
16	g.23215238G>T	CA395103527	SCNN1G	c.1719G>T (p.Trp573Cys)
16	g.23215239G>A	CA395103530	SCNN1G	c.1720G>A (p.Ala574Thr)	gnomAD v4
16	g.23215239G>C	CA395103532	SCNN1G	c.1720G>C (p.Ala574Pro)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.23215239G=	CA2213236834	SCNN1G	c.1720G= (p.Ala574=)
16	g.23215239G>T	CA395103531	SCNN1G	c.1720G>T (p.Ala574Ser)	gnomAD v4
16	g.23215240C>A	CA395103533	SCNN1G	c.1721C>A (p.Ala574Asp)	gnomAD v4
16	g.23215240C>G	CA395103534	SCNN1G	c.1721C>G (p.Ala574Gly)
16	g.23215240C>T	CA395103535	SCNN1G	c.1721C>T (p.Ala574Val)	COSMIC
16	g.23215241C>A	CA494459715	SCNN1G	c.1722C>A (p.Ala574=)
16	g.23215241C>G	CA494459713	SCNN1G	c.1722C>G (p.Ala574=)
16	g.23215241C>T	CA494459712	SCNN1G	c.1722C>T (p.Ala574=)
16	g.23215242T>A	CA395103536	SCNN1G	c.1723T>A (p.Trp575Arg)
16	g.23215242T>C	CA395103537	SCNN1G	c.1723T>C (p.Trp575Arg)	dbSNP gnomAD v2
16	g.23215242T>G	CA395103538	SCNN1G	c.1723T>G (p.Trp575Gly)
16	g.23215242T=	CA2213236837	SCNN1G	c.1723T= (p.Trp575=)
16	g.23215243G>A	CA395103539	SCNN1G	c.1724G>A (p.Trp575Ter)
16	g.23215243G>C	CA395103540	SCNN1G	c.1724G>C (p.Trp575Ser)	ClinVar dbSNP
16	g.23215243G=	CA2213236844	SCNN1G	c.1724G= (p.Trp575=)
16	g.23215243G>T	CA395103541	SCNN1G	c.1724G>T (p.Trp575Leu)
16	g.23215244G>A	CA395103542	SCNN1G	c.1725G>A (p.Trp575Ter)
16	g.23215244G>C	CA395103543	SCNN1G	c.1725G>C (p.Trp575Cys)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.23215244G=	CA2213236850	SCNN1G	c.1725G= (p.Trp575=)
16	g.23215244G>T	CA395103544	SCNN1G	c.1725G>T (p.Trp575Cys)
16	g.23215245A>C	CA395103545	SCNN1G	c.1726A>C (p.Lys576Gln)
16	g.23215245A>G	CA395103547	SCNN1G	c.1726A>G (p.Lys576Glu)
16	g.23215245A>T	CA395103546	SCNN1G	c.1726A>T (p.Lys576Ter)
16	g.23215246A>C	CA395103548	SCNN1G	c.1727A>C (p.Lys576Thr)
16	g.23215246A>G	CA395103549	SCNN1G	c.1727A>G (p.Lys576Arg)
16	g.23215246A>T	CA395103550	SCNN1G	c.1727A>T (p.Lys576Ile)
16	g.23215247A>C	CA395103551	SCNN1G	c.1728A>C (p.Lys576Asn)
16	g.23215247A>G	CA494459718	SCNN1G	c.1728A>G (p.Lys576=)
16	g.23215247A>T	CA395103552	SCNN1G	c.1728A>T (p.Lys576Asn)
16	g.23215247_23215263delinsACAGGCTCCCCCATGTC	CA2213236854	SCNN1G	c.1728_1744delinsACAGGCTCCCCCATGTC (p.Lys576=)
16	g.23215248C>A	CA395103553	SCNN1G	c.1729C>A (p.Gln577Lys)
16	g.23215248C>G	CA395103554	SCNN1G	c.1729C>G (p.Gln577Glu)
16	g.23215248C>T	CA395103555	SCNN1G	c.1729C>T (p.Gln577Ter)	gnomAD v4
16	g.23215251_23215266del	CA7959961	SCNN1G	c.1732_1747del (p.Ala578LysfsTer16)	dbSNP ExAC gnomAD v2
16	g.23215249A>C	CA395103557	SCNN1G	c.1730A>C (p.Gln577Pro)
16	g.23215249A>G	CA395103558	SCNN1G	c.1730A>G (p.Gln577Arg)	gnomAD v4
16	g.23215249A>T	CA395103556	SCNN1G	c.1730A>T (p.Gln577Leu)
16	g.23215250G>A	CA494459720	SCNN1G	c.1731G>A (p.Gln577=)
16	g.23215250G>C	CA395103559	SCNN1G	c.1731G>C (p.Gln577His)
16	g.23215250G>T	CA395103560	SCNN1G	c.1731G>T (p.Gln577His)
16	g.23215251G>A	CA395103561	SCNN1G	c.1732G>A (p.Ala578Thr)

Number of alleles fetched