Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56865499C>A | CA395977775 | SLC12A3 | c.264C>A (p.Asp88Glu) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56865499C= | CA2224347015 | SLC12A3 | c.264C= (p.Asp88=) | |
16 | g.56865499C>G | CA395977777 | SLC12A3 | c.264C>G (p.Asp88Glu) | |
16 | g.56865499C>T | CA495787877 | SLC12A3 | c.264C>T (p.Asp88=) | |
16 | g.56865500C>A | CA395977781 | SLC12A3 | c.265C>A (p.Leu89Met) | |
16 | g.56865500C>G | CA395977784 | SLC12A3 | c.265C>G (p.Leu89Val) | |
16 | g.56865500C>T | CA495787878 | SLC12A3 | c.265C>T (p.Leu89=) | gnomAD v4 |
16 | g.56865501T>A | CA395977787 | SLC12A3 | c.266T>A (p.Leu89Gln) | |
16 | g.56865501T>C | CA395977788 | SLC12A3 | c.266T>C (p.Leu89Pro) | |
16 | g.56865501T>G | CA395977790 | SLC12A3 | c.266T>G (p.Leu89Arg) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865501T= | CA2224347016 | SLC12A3 | c.266T= (p.Leu89=) | |
16 | g.56865502G>A | CA495787879 | SLC12A3 | c.267G>A (p.Leu89=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865502G>C | CA495787880 | SLC12A3 | c.267G>C (p.Leu89=) | gnomAD v4 |
16 | g.56865502G>T | CA495787881 | SLC12A3 | c.267G>T (p.Leu89=) | |
16 | g.56865503C>A | CA395977793 | SLC12A3 | c.268C>A (p.His90Asn) | |
16 | g.56865503C= | CA2224347017 | SLC12A3 | c.268C= (p.His90=) | |
16 | g.56865503C>G | CA395977797 | SLC12A3 | c.268C>G (p.His90Asp) | |
16 | g.56865503C>T | CA395977799 | SLC12A3 | c.268C>T (p.His90Tyr) | ClinVar dbSNP |
16 | g.56865504A= | CA2224347018 | SLC12A3 | c.269A= (p.His90=) | |
16 | g.56865504A>C | CA395977806 | SLC12A3 | c.269A>C (p.His90Pro) | dbSNP gnomAD v4 |
16 | g.56865504A>G | CA395977807 | SLC12A3 | c.269A>G (p.His90Arg) | gnomAD v4 |
16 | g.56865504A>T | CA395977804 | SLC12A3 | c.269A>T (p.His90Leu) | |
16 | g.56865505C>A | CA395977808 | SLC12A3 | c.270C>A (p.His90Gln) | |
16 | g.56865505C>G | CA395977809 | SLC12A3 | c.270C>G (p.His90Gln) | |
16 | g.56865505C>T | CA495787882 | SLC12A3 | c.270C>T (p.His90=) | ClinVar dbSNP gnomAD v4 |
16 | g.56865506T>A | CA395977815 | SLC12A3 | c.271T>A (p.Ser91Thr) | |
16 | g.56865506T>C | CA395977818 | SLC12A3 | c.271T>C (p.Ser91Pro) | ClinVar dbSNP |
16 | g.56865506T>G | CA395977823 | SLC12A3 | c.271T>G (p.Ser91Ala) | |
16 | g.56865506T= | CA2224347019 | SLC12A3 | c.271T= (p.Ser91=) | |
16 | g.56865507C>A | CA395977833 | SLC12A3 | c.272C>A (p.Ser91Tyr) | |
16 | g.56865507C= | CA2224347020 | SLC12A3 | c.272C= (p.Ser91=) | |
16 | g.56865507C>G | CA395977828 | SLC12A3 | c.272C>G (p.Ser91Cys) | dbSNP gnomAD v4 |
16 | g.56865507C>T | CA395977830 | SLC12A3 | c.272C>T (p.Ser91Phe) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56865507_56865508delinsTT | CA645573536 | SLC12A3 | c.272_273delinsTT (p.Ser91Phe) | COSMIC |
16 | g.56865508C>A | CA495787884 | SLC12A3 | c.273C>A (p.Ser91=) | |
16 | g.56865508C>G | CA495787885 | SLC12A3 | c.273C>G (p.Ser91=) | |
16 | g.56865508C>T | CA495787883 | SLC12A3 | c.273C>T (p.Ser91=) | gnomAD v4 |
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.56865522G>C | CA2838366334 | SLC12A3 | c.282+5G>C (n.282+5G>C) | |
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>A | CA2843565411 | SLC12A3 | c.282+9T>A (n.282+9T>A) | |
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.56865530T>A | CA2843565412 | SLC12A3 | c.282+13T>A (n.282+13T>A) | |
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.56865535A>G | CA2843565413 | SLC12A3 | c.282+18A>G (n.282+18A>G) | |
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>A | CA2839404547 | SLC12A3 | c.282+25C>A (n.282+25C>A) | |
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.56865547T>A | CA2843565414 | SLC12A3 | c.282+30T>A (n.282+30T>A) | |
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.56865552G>T | CA2838366342 | SLC12A3 | c.282+35G>T (n.282+35G>T) | |
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.56865566dup | CA2843565415 | SLC12A3 | c.282+49dup (n.282+49dup) | |
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.56865581C>A | CA2843565416 | SLC12A3 | c.282+64C>A (n.282+64C>A) | |
16 | g.56865581C>T | CA2838366338 | SLC12A3 | c.282+64C>T (n.282+64C>T) | |
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>A | CA2838146055 | SLC12A3 | c.282+79T>A (n.282+79T>A) | |
16 | g.56865596T>C | CA2838146056 | SLC12A3 | c.282+79T>C (n.282+79T>C) | |
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 |