Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
16	g.56863765_56872392del	CA1139664706			ClinVar
16	g.56865509T>A	CA395977836	SLC12A3	c.274T>A (p.Phe92Ile)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865509T>C	CA395977839	SLC12A3	c.274T>C (p.Phe92Leu)
16	g.56865509T>G	CA395977842	SLC12A3	c.274T>G (p.Phe92Val)
16	g.56865509T=	CA2224347021	SLC12A3	c.274T= (p.Phe92=)
16	g.56865510T>A	CA395977851	SLC12A3	c.275T>A (p.Phe92Tyr)
16	g.56865510T>C	CA395977854	SLC12A3	c.275T>C (p.Phe92Ser)
16	g.56865510T>G	CA395977859	SLC12A3	c.275T>G (p.Phe92Cys)
16	g.56865511C>A	CA395977864	SLC12A3	c.276C>A (p.Phe92Leu)
16	g.56865511C=	CA2224347022	SLC12A3	c.276C= (p.Phe92=)
16	g.56865511C>G	CA395977866	SLC12A3	c.276C>G (p.Phe92Leu)
16	g.56865511C>T	CA281492393	SLC12A3	c.276C>T (p.Phe92=)	dbSNP gnomAD v4
16	g.56865512C>A	CA395977870	SLC12A3	c.277C>A (p.Leu93Ile)
16	g.56865512C=	CA2224347023	SLC12A3	c.277C= (p.Leu93=)
16	g.56865512C>G	CA395977876	SLC12A3	c.277C>G (p.Leu93Val)
16	g.56865512C>T	CA8068947	SLC12A3	c.277C>T (p.Leu93Phe)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865513_56865514del	CA2732474919	SLC12A3	c.278_279del (p.Leu93GlnfsTer13) c.278_279del (p.Leu93GlnfsTer12)	dbSNP
16	g.56865513T>A	CA395977879	SLC12A3	c.278T>A (p.Leu93His)
16	g.56865513T>C	CA395977881	SLC12A3	c.278T>C (p.Leu93Pro)
16	g.56865513T>G	CA395977885	SLC12A3	c.278T>G (p.Leu93Arg)
16	g.56865514C>A	CA495787886	SLC12A3	c.279C>A (p.Leu93=)
16	g.56865514C=	CA2224347024	SLC12A3	c.279C= (p.Leu93=)
16	g.56865514C>G	CA495787887	SLC12A3	c.279C>G (p.Leu93=)	COSMIC
16	g.56865514C>T	CA281492397	SLC12A3	c.279C>T (p.Leu93=)	dbSNP
16	g.56865515A>C	CA395977890	SLC12A3	c.280A>C (p.Lys94Gln)
16	g.56865515A>G	CA395977892	SLC12A3	c.280A>G (p.Lys94Glu)
16	g.56865515A>T	CA395977895	SLC12A3	c.280A>T (p.Lys94Ter)
16	g.56865516A>C	CA395977899	SLC12A3	c.281A>C (p.Lys94Thr)
16	g.56865516A>G	CA395977902	SLC12A3	c.281A>G (p.Lys94Arg)
16	g.56865516A>T	CA395977912	SLC12A3	c.281A>T (p.Lys94Met)
16	g.56865517G>A	CA495787888	SLC12A3	c.282G>A (p.Lys94=)	dbSNP gnomAD v2 gnomAD v4
16	g.56865517G>C	CA395977916	SLC12A3	c.282G>C (p.Lys94Asn)
16	g.56865517G=	CA2224347025	SLC12A3	c.282G= (p.Lys94=)
16	g.56865517G>T	CA395977917	SLC12A3	c.282G>T (p.Lys94Asn)
16	g.56865518G>A	CA395977925	SLC12A3	c.282+1G>A (n.282+1G>A)
16	g.56865518G>C	CA395977921	SLC12A3	c.282+1G>C (n.282+1G>C)
16	g.56865518G>T	CA395977923	SLC12A3	c.282+1G>T (n.282+1G>T)	gnomAD v4
16	g.56865519T>A	CA395977928	SLC12A3	c.282+2T>A (n.282+2T>A)	gnomAD v4
16	g.56865519T>C	CA395977931	SLC12A3	c.282+2T>C (n.282+2T>C)
16	g.56865519T>G	CA395977933	SLC12A3	c.282+2T>G (n.282+2T>G)
16	g.56865520A>G	CA2807159559	SLC12A3	c.282+3A>G (n.282+3A>G)
16	g.56865520_56865521insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC	CA2633369082	SLC12A3	c.282+3_282+4insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC (n.282+3_282+4insGGCAGACACCTGCATGCCCTGGCCTTTGACAGCCGGCCC)	gnomAD v4
16	g.56865521A>G	CA2633369084	SLC12A3	c.282+4A>G (n.282+4A>G)	gnomAD v4
16	g.56865524G>A	CA2573152444	SLC12A3	c.282+7G>A (n.282+7G>A)	ClinVar dbSNP
16	g.56865524G>C	CA2633369087	SLC12A3	c.282+7G>C (n.282+7G>C)	gnomAD v4
16	g.56865524G>T	CA2633369089	SLC12A3	c.282+7G>T (n.282+7G>T)	gnomAD v4
16	g.56865525C>T	CA2633369092	SLC12A3	c.282+8C>T (n.282+8C>T)	gnomAD v4
16	g.56865526T>C	CA2633369096	SLC12A3	c.282+9T>C (n.282+9T>C)	gnomAD v4
16	g.56865527G>A	CA2633369100	SLC12A3	c.282+10G>A (n.282+10G>A)	gnomAD v4
16	g.56865527G=	CA2224347026	SLC12A3	c.282+10G= (n.282+10G=)
16	g.56865527G>T	CA8068948	SLC12A3	c.282+10G>T (n.282+10G>T)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865531C>A	CA2224347028	SLC12A3	c.282+14C>A (n.282+14C>A)	dbSNP
16	g.56865531C=	CA2224347027	SLC12A3	c.282+14C= (n.282+14C=)
16	g.56865531C>T	CA2633369109	SLC12A3	c.282+14C>T (n.282+14C>T)	gnomAD v4
16	g.56865532A>C	CA2576001572	SLC12A3	c.282+15A>C (n.282+15A>C)
16	g.56865532A>G	CA2633369113	SLC12A3	c.282+15A>G (n.282+15A>G)	gnomAD v4
16	g.56865532A>T	CA2633369114	SLC12A3	c.282+15A>T (n.282+15A>T)	gnomAD v4
16	g.56865533G>A	CA977635849	SLC12A3	c.282+16G>A (n.282+16G>A)	ClinVar dbSNP gnomAD v3 gnomAD v4
16	g.56865533G=	CA2224347029	SLC12A3	c.282+16G= (n.282+16G=)
16	g.56865533G>T	CA2633369120	SLC12A3	c.282+16G>T (n.282+16G>T)	gnomAD v4
16	g.56865536G>A	CA622332142	SLC12A3	c.282+19G>A (n.282+19G>A)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865536G=	CA2224347030	SLC12A3	c.282+19G= (n.282+19G=)
16	g.56865536G>T	CA2633369124	SLC12A3	c.282+19G>T (n.282+19G>T)	gnomAD v4
16	g.56865537A>T	CA2739266764	SLC12A3	c.282+20A>T (n.282+20A>T)	ClinVar
16	g.56865538C>A	CA2633369130	SLC12A3	c.282+21C>A (n.282+21C>A)	gnomAD v4
16	g.56865538C=	CA2224347031	SLC12A3	c.282+21C= (n.282+21C=)
16	g.56865538C>G	CA2224347032	SLC12A3	c.282+21C>G (n.282+21C>G)	dbSNP
16	g.56865539T>C	CA722001550	SLC12A3	c.282+22T>C (n.282+22T>C)	dbSNP
16	g.56865539T=	CA2224347033	SLC12A3	c.282+22T= (n.282+22T=)
16	g.56865540G>T	CA2552570240	SLC12A3	c.282+23G>T (n.282+23G>T)	gnomAD v4
16	g.56865541G>T	CA2633369133	SLC12A3	c.282+24G>T (n.282+24G>T)	gnomAD v4
16	g.56865542C>T	CA2633369135	SLC12A3	c.282+25C>T (n.282+25C>T)	gnomAD v4
16	g.56865543C=	CA2224347034	SLC12A3	c.282+26C= (n.282+26C=)
16	g.56865543C>T	CA8068949	SLC12A3	c.282+26C>T (n.282+26C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865544A=	CA2224347035	SLC12A3	c.282+27A= (n.282+27A=)
16	g.56865544A>G	CA8068950	SLC12A3	c.282+27A>G (n.282+27A>G)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865545C=	CA2224347036	SLC12A3	c.282+28C= (n.282+28C=)
16	g.56865545C>T	CA8068951	SLC12A3	c.282+28C>T (n.282+28C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865546T>C	CA622332143	SLC12A3	c.282+29T>C (n.282+29T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.56865546T=	CA2224347037	SLC12A3	c.282+29T= (n.282+29T=)
16	g.56865548C=	CA2224347038	SLC12A3	c.282+31C= (n.282+31C=)
16	g.56865548C>T	CA8068952	SLC12A3	c.282+31C>T (n.282+31C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865549C=	CA2224347039	SLC12A3	c.282+32C= (n.282+32C=)
16	g.56865549C>T	CA8068953	SLC12A3	c.282+32C>T (n.282+32C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865550C>A	CA2633369160	SLC12A3	c.282+33C>A (n.282+33C>A)	gnomAD v4
16	g.56865551T>C	CA2633369165	SLC12A3	c.282+34T>C (n.282+34T>C)	gnomAD v4
16	g.56865551T>G	CA8068954	SLC12A3	c.282+34T>G (n.282+34T>G)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865551T=	CA2224347040	SLC12A3	c.282+34T= (n.282+34T=)
16	g.56865552G>A	CA281492409	SLC12A3	c.282+35G>A (n.282+35G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.56865552G=	CA2224347041	SLC12A3	c.282+35G= (n.282+35G=)
16	g.56865553C>A	CA2633369177	SLC12A3	c.282+36C>A (n.282+36C>A)	gnomAD v4
16	g.56865553C=	CA2224347042	SLC12A3	c.282+36C= (n.282+36C=)
16	g.56865553C>T	CA8068955	SLC12A3	c.282+36C>T (n.282+36C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865554T>C	CA622332144	SLC12A3	c.282+37T>C (n.282+37T>C)	dbSNP gnomAD v2 gnomAD v4
16	g.56865554T=	CA2224347043	SLC12A3	c.282+37T= (n.282+37T=)
16	g.56865555G>A	CA622332146	SLC12A3	c.282+38G>A (n.282+38G>A)	dbSNP gnomAD v2 gnomAD v4
16	g.56865555G>C	CA281492415	SLC12A3	c.282+38G>C (n.282+38G>C)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865555G=	CA2224347044	SLC12A3	c.282+38G= (n.282+38G=)
16	g.56865555G>T	CA622332145	SLC12A3	c.282+38G>T (n.282+38G>T)	dbSNP gnomAD v2
16	g.56865556T>C	CA722001580	SLC12A3	c.282+39T>C (n.282+39T>C)	dbSNP
16	g.56865556T>G	CA2633369194	SLC12A3	c.282+39T>G (n.282+39T>G)	gnomAD v4
16	g.56865556T=	CA2224347045	SLC12A3	c.282+39T= (n.282+39T=)
16	g.56865557G>C	CA2633369198	SLC12A3	c.282+40G>C (n.282+40G>C)	gnomAD v4
16	g.56865557G>T	CA2633369199	SLC12A3	c.282+40G>T (n.282+40G>T)	gnomAD v4
16	g.56865558_56865559insCGAGGTCACACAGCAG	CA2633369200	SLC12A3	c.282+41_282+42insCGAGGTCACACAGCAG (n.282+41_282+42insCGAGGTCACACAGCAG)	gnomAD v4
16	g.56865560_56865561delinsAC	CA2224347046	SLC12A3	c.282+43_282+44delinsAC (n.282+43_282+44delinsAC)
16	g.56865561C>A	CA8068957	SLC12A3	c.282+44C>A (n.282+44C>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865561C=	CA2224347047	SLC12A3	c.282+44C= (n.282+44C=)
16	g.56865561C>T	CA2633369208	SLC12A3	c.282+44C>T (n.282+44C>T)	gnomAD v4
16	g.56865562del	CA8068956	SLC12A3	c.282+45del (n.282+45del)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865562C>A	CA2633369211	SLC12A3	c.282+45C>A (n.282+45C>A)	gnomAD v4
16	g.56865562C>G	CA2633369212	SLC12A3	c.282+45C>G (n.282+45C>G)	gnomAD v4
16	g.56865562C>T	CA2576001573	SLC12A3	c.282+45C>T (n.282+45C>T)	gnomAD v4
16	g.56865563T>C	CA2633369216	SLC12A3	c.282+46T>C (n.282+46T>C)	gnomAD v4
16	g.56865564C>A	CA622332147	SLC12A3	c.282+47C>A (n.282+47C>A)	dbSNP gnomAD v2 gnomAD v4
16	g.56865564C=	CA2224347048	SLC12A3	c.282+47C= (n.282+47C=)
16	g.56865564C>T	CA8068958	SLC12A3	c.282+47C>T (n.282+47C>T)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865565G>A	CA8068959	SLC12A3	c.282+48G>A (n.282+48G>A)	dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865565G>C	CA8068960	SLC12A3	c.282+48G>C (n.282+48G>C)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865565G=	CA2224347049	SLC12A3	c.282+48G= (n.282+48G=)
16	g.56865565G>T	CA2514628731	SLC12A3	c.282+48G>T (n.282+48G>T)	gnomAD v4
16	g.56865567C>A	CA2633369232	SLC12A3	c.282+50C>A (n.282+50C>A)	gnomAD v4
16	g.56865568C>A	CA2633369236	SLC12A3	c.282+51C>A (n.282+51C>A)	gnomAD v4
16	g.56865568C=	CA2224347050	SLC12A3	c.282+51C= (n.282+51C=)
16	g.56865568C>G	CA622332148	SLC12A3	c.282+51C>G (n.282+51C>G)	dbSNP gnomAD v2 gnomAD v4
16	g.56865568C>T	CA8068961	SLC12A3	c.282+51C>T (n.282+51C>T)	dbSNP ExAC gnomAD v2 gnomAD v4
16	g.56865569C>A	CA2633369240	SLC12A3	c.282+52C>A (n.282+52C>A)	dbSNP gnomAD v4
16	g.56865569C>T	CA2633369242	SLC12A3	c.282+52C>T (n.282+52C>T)	gnomAD v4
16	g.56865570A>G	CA2633369245	SLC12A3	c.282+53A>G (n.282+53A>G)	gnomAD v4
16	g.56865571G>A	CA2633369248	SLC12A3	c.282+54G>A (n.282+54G>A)	gnomAD v4
16	g.56865571G=	CA2224347051	SLC12A3	c.282+54G= (n.282+54G=)
16	g.56865571G>T	CA281492432	SLC12A3	c.282+54G>T (n.282+54G>T)	dbSNP gnomAD v3 gnomAD v4
16	g.56865572C>A	CA2633369256	SLC12A3	c.282+55C>A (n.282+55C>A)	gnomAD v4
16	g.56865572C=	CA2224347052	SLC12A3	c.282+55C= (n.282+55C=)
16	g.56865572C>G	CA622332149	SLC12A3	c.282+55C>G (n.282+55C>G)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865573_56865578delinsTACCTA	CA2224347053	SLC12A3	c.282+56_282+61delinsTACCTA (n.282+56_282+61delinsTACCTA)
16	g.56865573_56865583delinsTACCTAACCTC	CA2224347054	SLC12A3	c.282+56_282+66delinsTACCTAACCTC (n.282+56_282+66delinsTACCTAACCTC)
16	g.56865574A=	CA2224347055	SLC12A3	c.282+57A= (n.282+57A=)
16	g.56865574A>T	CA622332150	SLC12A3	c.282+57A>T (n.282+57A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865578_56865582del	CA722001619	SLC12A3	c.282+61_282+65del (n.282+61_282+65del)	dbSNP
16	g.56865574_56865583del	CA722001618	SLC12A3	c.282+57_282+66del (n.282+57_282+66del)	dbSNP gnomAD v3 gnomAD v4
16	g.56865575C=	CA2224347056	SLC12A3	c.282+58C= (n.282+58C=)
16	g.56865575C>T	CA622332151	SLC12A3	c.282+58C>T (n.282+58C>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865576C>A	CA2633369267	SLC12A3	c.282+59C>A (n.282+59C>A)	gnomAD v4
16	g.56865576C>G	CA2633369269	SLC12A3	c.282+59C>G (n.282+59C>G)	gnomAD v4
16	g.56865579A>C	CA2633369272	SLC12A3	c.282+62A>C (n.282+62A>C)	gnomAD v4
16	g.56865580C>A	CA281492435	SLC12A3	c.282+63C>A (n.282+63C>A)	dbSNP gnomAD v3 gnomAD v4
16	g.56865580C=	CA2224347057	SLC12A3	c.282+63C= (n.282+63C=)
16	g.56865583C=	CA2224347058	SLC12A3	c.282+66C= (n.282+66C=)
16	g.56865583C>G	CA2576001575	SLC12A3	c.282+66C>G (n.282+66C>G)	gnomAD v4
16	g.56865583C>T	CA2224347059	SLC12A3	c.282+66C>T (n.282+66C>T)	dbSNP gnomAD v4
16	g.56865584T>C	CA2807159560	SLC12A3	c.282+67T>C (n.282+67T>C)
16	g.56865585C>A	CA2633369277	SLC12A3	c.282+68C>A (n.282+68C>A)	gnomAD v4
16	g.56865586T>C	CA2224347061	SLC12A3	c.282+69T>C (n.282+69T>C)	dbSNP
16	g.56865586T=	CA2224347060	SLC12A3	c.282+69T= (n.282+69T=)
16	g.56865587G>A	CA722001628	SLC12A3	c.282+70G>A (n.282+70G>A)	dbSNP gnomAD v4
16	g.56865587G>C	CA2224347064	SLC12A3	c.282+70G>C (n.282+70G>C)	dbSNP gnomAD v4
16	g.56865587G=	CA2224347062	SLC12A3	c.282+70G= (n.282+70G=)
16	g.56865587G>T	CA2633369282	SLC12A3	c.282+70G>T (n.282+70G>T)	gnomAD v4
16	g.56865587_56865593delinsGAGCCTC	CA2224347063	SLC12A3	c.282+70_282+76delinsGAGCCTC (n.282+70_282+76delinsGAGCCTC)
16	g.56865588A=	CA2224347065	SLC12A3	c.282+71A= (n.282+71A=)
16	g.56865588A>G	CA722001640	SLC12A3	c.282+71A>G (n.282+71A>G)	dbSNP
16	g.56865590_56865595del	CA977635871	SLC12A3	c.282+73_282+78del (n.282+73_282+78del)	dbSNP gnomAD v3 gnomAD v4
16	g.56865589G>A	CA2633369289	SLC12A3	c.282+72G>A (n.282+72G>A)	gnomAD v4
16	g.56865589G>C	CA2224347067	SLC12A3	c.282+72G>C (n.282+72G>C)	dbSNP
16	g.56865589G=	CA2224347066	SLC12A3	c.282+72G= (n.282+72G=)
16	g.56865589G>T	CA2633369291	SLC12A3	c.282+72G>T (n.282+72G>T)	gnomAD v4
16	g.56865590C>A	CA2633369296	SLC12A3	c.282+73C>A (n.282+73C>A)	gnomAD v4
16	g.56865590C>T	CA2633369295	SLC12A3	c.282+73C>T (n.282+73C>T)	gnomAD v4
16	g.56865591C>A	CA2576001576	SLC12A3	c.282+74C>A (n.282+74C>A)	gnomAD v4
16	g.56865593C>A	CA2633369298	SLC12A3	c.282+76C>A (n.282+76C>A)	gnomAD v4
16	g.56865594A>C	CA2576001577	SLC12A3	c.282+77A>C (n.282+77A>C)	gnomAD v4
16	g.56865596T>G	CA281492438	SLC12A3	c.282+79T>G (n.282+79T>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865596T=	CA2224347068	SLC12A3	c.282+79T= (n.282+79T=)
16	g.56865597dup	CA2807159561	SLC12A3	c.282+80dup (n.282+80dup)
16	g.56865598C>A	CA2633369308	SLC12A3	c.282+81C>A (n.282+81C>A)	gnomAD v4
16	g.56865598C>T	CA2633369309	SLC12A3	c.282+81C>T (n.282+81C>T)	gnomAD v4
16	g.56865599T>C	CA2633369311	SLC12A3	c.282+82T>C (n.282+82T>C)	gnomAD v4
16	g.56865600G>T	CA2633369312	SLC12A3	c.282+83G>T (n.282+83G>T)	gnomAD v4
16	g.56865602C>A	CA2576001578	SLC12A3	c.282+85C>A (n.282+85C>A)	gnomAD v4
16	g.56865602C>T	CA2633369315	SLC12A3	c.282+85C>T (n.282+85C>T)	gnomAD v4
16	g.56865603A=	CA2224347069	SLC12A3	c.282+86A= (n.282+86A=)
16	g.56865603A>C	CA2633369317	SLC12A3	c.282+86A>C (n.282+86A>C)	gnomAD v4
16	g.56865603A>T	CA622332152	SLC12A3	c.282+86A>T (n.282+86A>T)	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.56865605C>A	CA2576001579	SLC12A3	c.282+88C>A (n.282+88C>A)	gnomAD v4
16	g.56865605C>T	CA2633369324	SLC12A3	c.282+88C>T (n.282+88C>T)	gnomAD v4
16	g.56865606T>C	CA2633369326	SLC12A3	c.282+89T>C (n.282+89T>C)	gnomAD v4
16	g.56865607G>A	CA977635894	SLC12A3	c.282+90G>A (n.282+90G>A)	dbSNP gnomAD v3 gnomAD v4
16	g.56865607G=	CA2224347070	SLC12A3	c.282+90G= (n.282+90G=)
16	g.56865607G>T	CA2633369331	SLC12A3	c.282+90G>T (n.282+90G>T)	gnomAD v4
16	g.56865609G>A	CA2633369334	SLC12A3	c.282+92G>A (n.282+92G>A)	gnomAD v4
16	g.56865609G>T	CA2633369332	SLC12A3	c.282+92G>T (n.282+92G>T)	gnomAD v4

Number of alleles fetched