Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.56863765_56872392del	CA1139664706			ClinVar
16	g.56865414C>A	CA395977098	SLC12A3	c.179C>A (p.Thr60Lys)
16	g.56865414C=	CA2224346971	SLC12A3	c.179C= (p.Thr60=)
16	g.56865414C>G	CA395977101	SLC12A3	c.179C>G (p.Thr60Arg)
16	g.56865414C>T	CA150734	SLC12A3	c.179C>T (p.Thr60Met)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865415G>A	CA8068929	SLC12A3	c.180G>A (p.Thr60=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.56865415G>C	CA8068930	SLC12A3	c.180G>C (p.Thr60=)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865415G=	CA2224346972	SLC12A3	c.180G= (p.Thr60=)
16	g.56865415G>T	CA495787797	SLC12A3	c.180G>T (p.Thr60=)
16	g.56865416_56865425del	CA2580091660	SLC12A3	c.181_190del (p.Ile61CysfsTer?)	ClinVar
16	g.56865416A=	CA2224346973	SLC12A3	c.181A= (p.Ile61=)
16	g.56865416A>C	CA395977109	SLC12A3	c.181A>C (p.Ile61Leu)
16	g.56865416A>G	CA8068931	SLC12A3	c.181A>G (p.Ile61Val)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865416A>T	CA395977120	SLC12A3	c.181A>T (p.Ile61Phe)
16	g.56865417T>A	CA395977124	SLC12A3	c.182T>A (p.Ile61Asn)
16	g.56865417T>C	CA395977133	SLC12A3	c.182T>C (p.Ile61Thr)
16	g.56865417T>G	CA395977125	SLC12A3	c.182T>G (p.Ile61Ser)
16	g.56865418C>A	CA495787799	SLC12A3	c.183C>A (p.Ile61=)	gnomAD v4
16	g.56865418C=	CA2224346974	SLC12A3	c.183C= (p.Ile61=)
16	g.56865418C>G	CA281492355	SLC12A3	c.183C>G (p.Ile61Met)	dbSNP gnomAD v3 gnomAD v4
16	g.56865418C>T	CA495787800	SLC12A3	c.183C>T (p.Ile61=)	ClinVar dbSNP gnomAD v2 gnomAD v4
16	g.56865419G>A	CA395977137	SLC12A3	c.184G>A (p.Asp62Asn)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.56865419G>C	CA8068932	SLC12A3	c.184G>C (p.Asp62His)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865419G=	CA2224346975	SLC12A3	c.184G= (p.Asp62=)
16	g.56865419G>T	CA395977142	SLC12A3	c.184G>T (p.Asp62Tyr)	gnomAD v4
16	g.56865420A=	CA2224346976	SLC12A3	c.185A= (p.Asp62=)
16	g.56865420A>C	CA395977144	SLC12A3	c.185A>C (p.Asp62Ala)
16	g.56865420A>G	CA395977146	SLC12A3	c.185A>G (p.Asp62Gly)	ClinVar dbSNP gnomAD v4
16	g.56865420A>T	CA395977145	SLC12A3	c.185A>T (p.Asp62Val)	ClinVar
16	g.56865421T>A	CA395977150	SLC12A3	c.186T>A (p.Asp62Glu)
16	g.56865421T>C	CA495787802	SLC12A3	c.186T>C (p.Asp62=)
16	g.56865421T>G	CA395977154	SLC12A3	c.186T>G (p.Asp62Glu)
16	g.56865422G>A	CA8068933	SLC12A3	c.187G>A (p.Val63Met)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865422G>C	CA395977165	SLC12A3	c.187G>C (p.Val63Leu)
16	g.56865422G=	CA2224346977	SLC12A3	c.187G= (p.Val63=)
16	g.56865422G>T	CA395977166	SLC12A3	c.187G>T (p.Val63Leu)
16	g.56865425_56865427del	CA2695223509	SLC12A3	c.190_192del (p.Val64del)
16	g.56865423T>A	CA395977168	SLC12A3	c.188T>A (p.Val63Glu)
16	g.56865423T>C	CA395977170	SLC12A3	c.188T>C (p.Val63Ala)
16	g.56865423T>G	CA395977175	SLC12A3	c.188T>G (p.Val63Gly)
16	g.56865424G>A	CA495787806	SLC12A3	c.189G>A (p.Val63=)	ClinVar dbSNP gnomAD v4
16	g.56865424G>C	CA495787805	SLC12A3	c.189G>C (p.Val63=)
16	g.56865424G>T	CA495787804	SLC12A3	c.189G>T (p.Val63=)
16	g.56865425G>A	CA395977178	SLC12A3	c.190G>A (p.Val64Met)	dbSNP
16	g.56865425G>C	CA395977180	SLC12A3	c.190G>C (p.Val64Leu)
16	g.56865425G=	CA2224346978	SLC12A3	c.190G= (p.Val64=)
16	g.56865425G>T	CA395977182	SLC12A3	c.190G>T (p.Val64Leu)
16	g.56865426T>A	CA395977187	SLC12A3	c.191T>A (p.Val64Glu)
16	g.56865426T>C	CA395977191	SLC12A3	c.191T>C (p.Val64Ala)	gnomAD v4
16	g.56865426T>G	CA395977189	SLC12A3	c.191T>G (p.Val64Gly)

Number of alleles fetched