Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.23215137A>C	CA395103294	SCNN1G	c.1618A>C (p.Ser540Arg)
16	g.23215137A>G	CA395103295	SCNN1G	c.1618A>G (p.Ser540Gly)
16	g.23215137A>T	CA395103296	SCNN1G	c.1618A>T (p.Ser540Cys)
16	g.23215138G>A	CA395103297	SCNN1G	c.1619G>A (p.Ser540Asn)	dbSNP COSMIC
16	g.23215138G>C	CA395103298	SCNN1G	c.1619G>C (p.Ser540Thr)
16	g.23215138G=	CA2213236445	SCNN1G	c.1619G= (p.Ser540=)
16	g.23215138G>T	CA395103299	SCNN1G	c.1619G>T (p.Ser540Ile)
16	g.23215139C>A	CA395103300	SCNN1G	c.1620C>A (p.Ser540Arg)
16	g.23215139C>G	CA395103301	SCNN1G	c.1620C>G (p.Ser540Arg)
16	g.23215139C>T	CA494459606	SCNN1G	c.1620C>T (p.Ser540=)
16	g.23215140T>A	CA395103302	SCNN1G	c.1621T>A (p.Cys541Ser)
16	g.23215140T>C	CA395103303	SCNN1G	c.1621T>C (p.Cys541Arg)
16	g.23215140T>G	CA395103304	SCNN1G	c.1621T>G (p.Cys541Gly)
16	g.23215141G>A	CA395103307	SCNN1G	c.1622G>A (p.Cys541Tyr)
16	g.23215141G>C	CA395103306	SCNN1G	c.1622G>C (p.Cys541Ser)
16	g.23215141G>T	CA395103305	SCNN1G	c.1622G>T (p.Cys541Phe)
16	g.23215142C>A	CA395103308	SCNN1G	c.1623C>A (p.Cys541Ter)
16	g.23215142C=	CA2213236448	SCNN1G	c.1623C= (p.Cys541=)
16	g.23215142C>G	CA395103309	SCNN1G	c.1623C>G (p.Cys541Trp)
16	g.23215142C>T	CA7959946	SCNN1G	c.1623C>T (p.Cys541=)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.23215143T>A	CA395103310	SCNN1G	c.1624T>A (p.Ser542Thr)
16	g.23215143T>C	CA395103311	SCNN1G	c.1624T>C (p.Ser542Pro)
16	g.23215143T>G	CA395103312	SCNN1G	c.1624T>G (p.Ser542Ala)	gnomAD v4
16	g.23215144C>A	CA395103313	SCNN1G	c.1625C>A (p.Ser542Tyr)
16	g.23215144C=	CA2213236452	SCNN1G	c.1625C= (p.Ser542=)
16	g.23215144C>G	CA395103314	SCNN1G	c.1625C>G (p.Ser542Cys)	dbSNP
16	g.23215144C>T	CA395103315	SCNN1G	c.1625C>T (p.Ser542Phe)
16	g.23215145T>A	CA494459613	SCNN1G	c.1626T>A (p.Ser542=)
16	g.23215145T>C	CA494459614	SCNN1G	c.1626T>C (p.Ser542=)
16	g.23215145T>G	CA494459615	SCNN1G	c.1626T>G (p.Ser542=)
16	g.23215145_23215146delinsTG	CA2213236454	SCNN1G	c.1626_1627delinsTG (p.Ser542=)
16	g.23215146del	CA913185015	SCNN1G	c.1627del (p.Val543LeufsTer?)	ClinVar dbSNP
16	g.23215146G>A	CA395103316	SCNN1G	c.1627G>A (p.Val543Ile)	gnomAD v4
16	g.23215146G>C	CA395103317	SCNN1G	c.1627G>C (p.Val543Leu)
16	g.23215146G>T	CA395103318	SCNN1G	c.1627G>T (p.Val543Phe)
16	g.23215147T>A	CA395103321	SCNN1G	c.1628T>A (p.Val543Asp)
16	g.23215147T>C	CA395103320	SCNN1G	c.1628T>C (p.Val543Ala)
16	g.23215147T>G	CA395103319	SCNN1G	c.1628T>G (p.Val543Gly)
16	g.23215148T>A	CA494459619	SCNN1G	c.1629T>A (p.Val543=)
16	g.23215148T>C	CA494459620	SCNN1G	c.1629T>C (p.Val543=)
16	g.23215148T>G	CA494459621	SCNN1G	c.1629T>G (p.Val543=)
16	g.23215149G>A	CA395103322	SCNN1G	c.1630G>A (p.Val544Ile)	dbSNP gnomAD v3 gnomAD v4
16	g.23215149G>C	CA7959947	SCNN1G	c.1630G>C (p.Val544Leu)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.23215149G=	CA2213236465	SCNN1G	c.1630G= (p.Val544=)
16	g.23215149G>T	CA395103323	SCNN1G	c.1630G>T (p.Val544Phe)	dbSNP
16	g.23215150T>A	CA395103324	SCNN1G	c.1631T>A (p.Val544Asp)
16	g.23215150T>C	CA395103325	SCNN1G	c.1631T>C (p.Val544Ala)
16	g.23215150T>G	CA395103326	SCNN1G	c.1631T>G (p.Val544Gly)
16	g.23215151C>A	CA494459627	SCNN1G	c.1632C>A (p.Val544=)
16	g.23215151C=	CA2213236469	SCNN1G	c.1632C= (p.Val544=)

Number of alleles fetched