Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.56863765_56872392del	CA1139664706			ClinVar
16	g.56865416_56865425del	CA2580091660	SLC12A3	c.181_190del (p.Ile61CysfsTer?)	ClinVar
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.56865425_56865426insAGA	CA2807159555	SLC12A3	c.190_191insAGA (p.Val64delinsGluMet)
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)
16	g.56865426_56865427insAGGGGACCCGCCTTGGATCTGGAGGGCTGGGCTG	CA2807159556	SLC12A3	c.191_192insAGGGGACCCGCCTTGGATCTGGAGGGCTGGGCTG (p.Pro65GlyfsTer15)
16	g.56865427G>A	CA495787808	SLC12A3	c.192G>A (p.Val64=)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865427G>C	CA495787810	SLC12A3	c.192G>C (p.Val64=)
16	g.56865427G=	CA2224346979	SLC12A3	c.192G= (p.Val64=)
16	g.56865427G>T	CA495787809	SLC12A3	c.192G>T (p.Val64=)
16	g.56865428C>A	CA395977192	SLC12A3	c.193C>A (p.Pro65Thr)
16	g.56865428C=	CA2224346980	SLC12A3	c.193C= (p.Pro65=)
16	g.56865428C>G	CA395977198	SLC12A3	c.193C>G (p.Pro65Ala)	dbSNP gnomAD v3 gnomAD v4
16	g.56865428C>T	CA395977195	SLC12A3	c.193C>T (p.Pro65Ser)	gnomAD v4
16	g.56865429C>A	CA395977205	SLC12A3	c.194C>A (p.Pro65His)
16	g.56865429C>G	CA395977207	SLC12A3	c.194C>G (p.Pro65Arg)
16	g.56865429C>T	CA395977208	SLC12A3	c.194C>T (p.Pro65Leu)
16	g.56865430C>A	CA495787813	SLC12A3	c.195C>A (p.Pro65=)
16	g.56865430C>G	CA495787814	SLC12A3	c.195C>G (p.Pro65=)
16	g.56865430C>T	CA495787815	SLC12A3	c.195C>T (p.Pro65=)
16	g.56865431A>C	CA395977211	SLC12A3	c.196A>C (p.Thr66Pro)
16	g.56865431A>G	CA395977212	SLC12A3	c.196A>G (p.Thr66Ala)	dbSNP
16	g.56865431A>T	CA395977213	SLC12A3	c.196A>T (p.Thr66Ser)	gnomAD v4
16	g.56865432C>A	CA395977217	SLC12A3	c.197C>A (p.Thr66Lys)	gnomAD v4
16	g.56865432C=	CA2224346981	SLC12A3	c.197C= (p.Thr66=)
16	g.56865432C>G	CA395977219	SLC12A3	c.197C>G (p.Thr66Arg)
16	g.56865432C>T	CA395977230	SLC12A3	c.197C>T (p.Thr66Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865433A=	CA2224346982	SLC12A3	c.198A= (p.Thr66=)
16	g.56865433A>C	CA495787819	SLC12A3	c.198A>C (p.Thr66=)
16	g.56865433A>G	CA8068934	SLC12A3	c.198A>G (p.Thr66=)	dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
16	g.56865433A>T	CA495787820	SLC12A3	c.198A>T (p.Thr66=)	ClinVar
16	g.56865435_56865436del	CA2633368796	SLC12A3	c.200_201del (p.Tyr67Ter)	gnomAD v4
16	g.56865434T>A	CA395977235	SLC12A3	c.199T>A (p.Tyr67Asn)
16	g.56865434T>C	CA395977238	SLC12A3	c.199T>C (p.Tyr67His)
16	g.56865434T>G	CA395977242	SLC12A3	c.199T>G (p.Tyr67Asp)
16	g.56865435A>C	CA395977247	SLC12A3	c.200A>C (p.Tyr67Ser)
16	g.56865435A>G	CA395977252	SLC12A3	c.200A>G (p.Tyr67Cys)	gnomAD v4
16	g.56865435A>T	CA395977250	SLC12A3	c.200A>T (p.Tyr67Phe)

Number of alleles fetched