Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
16 | g.56869725_56869736delinsGCAGTCCTGACC | CA2224349070 | SLC12A3 | c.506-4_513delinsGCAGTCCTGACC c.503-4_510delinsGCAGTCCTGACC | |
16 | g.56869726_56869736del | CA8069081 | SLC12A3 | c.506-3_513del c.503-3_510del | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869729T>A | CA395980708 | SLC12A3 | c.506T>A (p.Val169Asp) c.503T>A (p.Val168Asp) | |
16 | g.56869729T>C | CA395980711 | SLC12A3 | c.506T>C (p.Val169Ala) c.503T>C (p.Val168Ala) | |
16 | g.56869729T>G | CA395980713 | SLC12A3 | c.506T>G (p.Val169Gly) c.503T>G (p.Val168Gly) | |
16 | g.56869730C>A | CA495602876 | SLC12A3 | c.507C>A (p.Val169=) c.504C>A (p.Val168=) | ClinVar |
16 | g.56869730C= | CA2224349075 | SLC12A3 | c.507C= (p.Val169=) c.504C= (p.Val168=) | |
16 | g.56869730C>G | CA495602877 | SLC12A3 | c.507C>G (p.Val169=) c.504C>G (p.Val168=) | |
16 | g.56869730C>T | CA495602878 | SLC12A3 | c.507C>T (p.Val169=) c.504C>T (p.Val168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869731C>A | CA395980716 | SLC12A3 | c.508C>A (p.Leu170Met) c.505C>A (p.Leu169Met) | |
16 | g.56869731C>G | CA395980719 | SLC12A3 | c.508C>G (p.Leu170Val) c.505C>G (p.Leu169Val) | |
16 | g.56869731C>T | CA495602879 | SLC12A3 | c.508C>T (p.Leu170=) c.505C>T (p.Leu169=) | ClinVar gnomAD v4 |
16 | g.56869732T>A | CA395980722 | SLC12A3 | c.509T>A (p.Leu170Gln) c.506T>A (p.Leu169Gln) | ClinVar dbSNP |
16 | g.56869732T>C | CA395980724 | SLC12A3 | c.509T>C (p.Leu170Pro) c.506T>C (p.Leu169Pro) | ClinVar dbSNP gnomAD v4 |
16 | g.56869732T>G | CA395980727 | SLC12A3 | c.509T>G (p.Leu170Arg) c.506T>G (p.Leu169Arg) | |
16 | g.56869732T= | CA2224349076 | SLC12A3 | c.509T= (p.Leu170=) c.506T= (p.Leu169=) | |
16 | g.56869733G>A | CA495602880 | SLC12A3 | c.510G>A (p.Leu170=) c.507G>A (p.Leu169=) | ClinVar gnomAD v4 |
16 | g.56869733G>C | CA495602881 | SLC12A3 | c.510G>C (p.Leu170=) c.507G>C (p.Leu169=) | dbSNP gnomAD v2 |
16 | g.56869733G= | CA2224349077 | SLC12A3 | c.510G= (p.Leu170=) c.507G= (p.Leu169=) | |
16 | g.56869733G>T | CA495602882 | SLC12A3 | c.510G>T (p.Leu170=) c.507G>T (p.Leu169=) | gnomAD v4 |
16 | g.56869734A>C | CA395980738 | SLC12A3 | c.511A>C (p.Thr171Pro) c.508A>C (p.Thr170Pro) | |
16 | g.56869734A>G | CA395980735 | SLC12A3 | c.511A>G (p.Thr171Ala) c.508A>G (p.Thr170Ala) | |
16 | g.56869734A>T | CA395980732 | SLC12A3 | c.511A>T (p.Thr171Ser) c.508A>T (p.Thr170Ser) | |
16 | g.56869735C>A | CA395980742 | SLC12A3 | c.512C>A (p.Thr171Asn) c.509C>A (p.Thr170Asn) | ClinVar |
16 | g.56869735C>G | CA395980745 | SLC12A3 | c.512C>G (p.Thr171Ser) c.509C>G (p.Thr170Ser) | gnomAD v4 |
16 | g.56869735C>T | CA395980746 | SLC12A3 | c.512C>T (p.Thr171Ile) c.509C>T (p.Thr170Ile) | gnomAD v4 |
16 | g.56869736C>A | CA495602883 | SLC12A3 | c.513C>A (p.Thr171=) c.510C>A (p.Thr170=) | |
16 | g.56869736C>G | CA495602884 | SLC12A3 | c.513C>G (p.Thr171=) c.510C>G (p.Thr170=) | |
16 | g.56869736C>T | CA495602885 | SLC12A3 | c.513C>T (p.Thr171=) c.510C>T (p.Thr170=) | |
16 | g.56869737T>A | CA395980747 | SLC12A3 | c.514T>A (p.Trp172Arg) c.511T>A (p.Trp171Arg) | gnomAD v4 |
16 | g.56869737T>C | CA8069086 | SLC12A3 | c.514T>C (p.Trp172Arg) c.511T>C (p.Trp171Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869737T>G | CA395980748 | SLC12A3 | c.514T>G (p.Trp172Gly) c.511T>G (p.Trp171Gly) | |
16 | g.56869737T= | CA2224349078 | SLC12A3 | c.514T= (p.Trp172=) c.511T= (p.Trp171=) | |
16 | g.56869738G>A | CA395980750 | SLC12A3 | c.515G>A (p.Trp172Ter) c.512G>A (p.Trp171Ter) | |
16 | g.56869738G>C | CA395980752 | SLC12A3 | c.515G>C (p.Trp172Ser) c.512G>C (p.Trp171Ser) | gnomAD v4 |
16 | g.56869738G>T | CA395980764 | SLC12A3 | c.515G>T (p.Trp172Leu) c.512G>T (p.Trp171Leu) | |
16 | g.56869739G>A | CA395980767 | SLC12A3 | c.516G>A (p.Trp172Ter) c.513G>A (p.Trp171Ter) | COSMIC |
16 | g.56869739G>C | CA395980769 | SLC12A3 | c.516G>C (p.Trp172Cys) c.513G>C (p.Trp171Cys) | |
16 | g.56869739G>T | CA395980772 | SLC12A3 | c.516G>T (p.Trp172Cys) c.513G>T (p.Trp171Cys) | |
16 | g.56869740A>C | CA395980780 | SLC12A3 | c.517A>C (p.Ile173Leu) c.514A>C (p.Ile172Leu) | |
16 | g.56869740A>G | CA395980782 | SLC12A3 | c.517A>G (p.Ile173Val) c.514A>G (p.Ile172Val) | |
16 | g.56869740A>T | CA395980775 | SLC12A3 | c.517A>T (p.Ile173Phe) c.514A>T (p.Ile172Phe) | |
16 | g.56869741T>A | CA395980801 | SLC12A3 | c.518T>A (p.Ile173Asn) c.515T>A (p.Ile172Asn) | |
16 | g.56869741T>C | CA395980790 | SLC12A3 | c.518T>C (p.Ile173Thr) c.515T>C (p.Ile172Thr) | |
16 | g.56869741T>G | CA395980794 | SLC12A3 | c.518T>G (p.Ile173Ser) c.515T>G (p.Ile172Ser) | |
16 | g.56869742C>A | CA8069087 | SLC12A3 | c.519C>A (p.Ile173=) c.516C>A (p.Ile172=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869742C= | CA2224349079 | SLC12A3 | c.519C= (p.Ile173=) c.516C= (p.Ile172=) | |
16 | g.56869742C>G | CA395980803 | SLC12A3 | c.519C>G (p.Ile173Met) c.516C>G (p.Ile172Met) | |
16 | g.56869742C>T | CA495602886 | SLC12A3 | c.519C>T (p.Ile173=) c.516C>T (p.Ile172=) | |
16 | g.56869743A>C | CA395980808 | SLC12A3 | c.520A>C (p.Ile174Leu) c.517A>C (p.Ile173Leu) | |
16 | g.56869743A>G | CA395980810 | SLC12A3 | c.520A>G (p.Ile174Val) c.517A>G (p.Ile173Val) | gnomAD v4 |
16 | g.56869743A>T | CA395980813 | SLC12A3 | c.520A>T (p.Ile174Phe) c.517A>T (p.Ile173Phe) | |
16 | g.56869744T>A | CA395980817 | SLC12A3 | c.521T>A (p.Ile174Asn) c.518T>A (p.Ile173Asn) | |
16 | g.56869744T>C | CA395980820 | SLC12A3 | c.521T>C (p.Ile174Thr) c.518T>C (p.Ile173Thr) | |
16 | g.56869744T>G | CA395980819 | SLC12A3 | c.521T>G (p.Ile174Ser) c.518T>G (p.Ile173Ser) | gnomAD v4 |
16 | g.56869745C>A | CA495602887 | SLC12A3 | c.522C>A (p.Ile174=) c.519C>A (p.Ile173=) | |
16 | g.56869745C>G | CA395980824 | SLC12A3 | c.522C>G (p.Ile174Met) c.519C>G (p.Ile173Met) | |
16 | g.56869745C>T | CA495602888 | SLC12A3 | c.522C>T (p.Ile174=) c.519C>T (p.Ile173=) | ClinVar dbSNP gnomAD v4 |
16 | g.56869746A= | CA2224349080 | SLC12A3 | c.523A= (p.Ile175=) c.520A= (p.Ile174=) | |
16 | g.56869746A>C | CA395980829 | SLC12A3 | c.523A>C (p.Ile175Leu) c.520A>C (p.Ile174Leu) | |
16 | g.56869746A>G | CA281496629 | SLC12A3 | c.523A>G (p.Ile175Val) c.520A>G (p.Ile174Val) | dbSNP gnomAD v4 |
16 | g.56869746A>T | CA395980843 | SLC12A3 | c.523A>T (p.Ile175Phe) c.520A>T (p.Ile174Phe) | |
16 | g.56869747T>A | CA395980848 | SLC12A3 | c.524T>A (p.Ile175Asn) c.521T>A (p.Ile174Asn) | |
16 | g.56869747T>C | CA395980852 | SLC12A3 | c.524T>C (p.Ile175Thr) c.521T>C (p.Ile174Thr) | dbSNP gnomAD v4 |
16 | g.56869747T>G | CA395980850 | SLC12A3 | c.524T>G (p.Ile175Ser) c.521T>G (p.Ile174Ser) | |
16 | g.56869747T= | CA2224349081 | SLC12A3 | c.524T= (p.Ile175=) c.521T= (p.Ile174=) | |
16 | g.56869748C>A | CA495602889 | SLC12A3 | c.525C>A (p.Ile175=) c.522C>A (p.Ile174=) | dbSNP gnomAD v2 |
16 | g.56869748C= | CA2224349082 | SLC12A3 | c.525C= (p.Ile175=) c.522C= (p.Ile174=) | |
16 | g.56869748C>G | CA395980854 | SLC12A3 | c.525C>G (p.Ile175Met) c.522C>G (p.Ile174Met) | |
16 | g.56869748C>T | CA495602890 | SLC12A3 | c.525C>T (p.Ile175=) c.522C>T (p.Ile174=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869749C>A | CA395980857 | SLC12A3 | c.526C>A (p.Leu176Met) c.523C>A (p.Leu175Met) | |
16 | g.56869749C= | CA2224349083 | SLC12A3 | c.526C= (p.Leu176=) c.523C= (p.Leu175=) | |
16 | g.56869749C>G | CA8069088 | SLC12A3 | c.526C>G (p.Leu176Val) c.523C>G (p.Leu175Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869749C>T | CA495602891 | SLC12A3 | c.526C>T (p.Leu176=) c.523C>T (p.Leu175=) | |
16 | g.56869750T>A | CA395980858 | SLC12A3 | c.527T>A (p.Leu176Gln) c.524T>A (p.Leu175Gln) | |
16 | g.56869750T>C | CA395980861 | SLC12A3 | c.527T>C (p.Leu176Pro) c.524T>C (p.Leu175Pro) | |
16 | g.56869750T>G | CA395980864 | SLC12A3 | c.527T>G (p.Leu176Arg) c.524T>G (p.Leu175Arg) | |
16 | g.56869751G>A | CA495602892 | SLC12A3 | c.528G>A (p.Leu176=) c.525G>A (p.Leu175=) | |
16 | g.56869751G>C | CA495602894 | SLC12A3 | c.528G>C (p.Leu176=) c.525G>C (p.Leu175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869751G= | CA2224349084 | SLC12A3 | c.528G= (p.Leu176=) c.525G= (p.Leu175=) | |
16 | g.56869751G>T | CA495602893 | SLC12A3 | c.528G>T (p.Leu176=) c.525G>T (p.Leu175=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869752C>A | CA395980867 | SLC12A3 | c.529C>A (p.Leu177Met) c.526C>A (p.Leu176Met) | |
16 | g.56869752C= | CA2224349085 | SLC12A3 | c.529C= (p.Leu177=) c.526C= (p.Leu176=) | |
16 | g.56869752C>G | CA395980868 | SLC12A3 | c.529C>G (p.Leu177Val) c.526C>G (p.Leu176Val) | |
16 | g.56869752C>T | CA495602895 | SLC12A3 | c.529C>T (p.Leu177=) c.526C>T (p.Leu176=) | dbSNP gnomAD v4 |
16 | g.56869753T>A | CA395980869 | SLC12A3 | c.530T>A (p.Leu177Gln) c.527T>A (p.Leu176Gln) | |
16 | g.56869753T>C | CA395980870 | SLC12A3 | c.530T>C (p.Leu177Pro) c.527T>C (p.Leu176Pro) | gnomAD v4 |
16 | g.56869753T>G | CA395980872 | SLC12A3 | c.530T>G (p.Leu177Arg) c.527T>G (p.Leu176Arg) | |
16 | g.56869754G>A | CA495602896 | SLC12A3 | c.531G>A (p.Leu177=) c.528G>A (p.Leu176=) | ClinVar dbSNP gnomAD v4 |
16 | g.56869754G>C | CA495602897 | SLC12A3 | c.531G>C (p.Leu177=) c.528G>C (p.Leu176=) | |
16 | g.56869754G>T | CA495602898 | SLC12A3 | c.531G>T (p.Leu177=) c.528G>T (p.Leu176=) | ClinVar gnomAD v4 |
16 | g.56869755T>A | CA395980882 | SLC12A3 | c.532T>A (p.Ser178Thr) c.529T>A (p.Ser177Thr) | |
16 | g.56869755T>C | CA395980879 | SLC12A3 | c.532T>C (p.Ser178Pro) c.529T>C (p.Ser177Pro) | dbSNP |
16 | g.56869755T>G | CA395980874 | SLC12A3 | c.532T>G (p.Ser178Ala) c.529T>G (p.Ser177Ala) | |
16 | g.56869755T= | CA2224349086 | SLC12A3 | c.532T= (p.Ser178=) c.529T= (p.Ser177=) | |
16 | g.56869756C>A | CA395980883 | SLC12A3 | c.533C>A (p.Ser178Ter) c.530C>A (p.Ser177Ter) | |
16 | g.56869756C= | CA2224349087 | SLC12A3 | c.533C= (p.Ser178=) c.530C= (p.Ser177=) | |
16 | g.56869756C>G | CA395980884 | SLC12A3 | c.533C>G (p.Ser178Trp) c.530C>G (p.Ser177Trp) | ClinVar gnomAD v4 COSMIC |
16 | g.56869756C>T | CA8069089 | SLC12A3 | c.533C>T (p.Ser178Leu) c.530C>T (p.Ser177Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869757G>A | CA8069090 | SLC12A3 | c.534G>A (p.Ser178=) c.531G>A (p.Ser177=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56869757G>C | CA495602899 | SLC12A3 | c.534G>C (p.Ser178=) c.531G>C (p.Ser177=) | |
16 | g.56869757G= | CA2224349088 | SLC12A3 | c.534G= (p.Ser178=) c.531G= (p.Ser177=) | |
16 | g.56869757G>T | CA495602900 | SLC12A3 | c.534G>T (p.Ser178=) c.531G>T (p.Ser177=) | COSMIC |
16 | g.56869758G>A | CA395980890 | SLC12A3 | c.535G>A (p.Val179Ile) c.532G>A (p.Val178Ile) | |
16 | g.56869758G>C | CA395980893 | SLC12A3 | c.535G>C (p.Val179Leu) c.532G>C (p.Val178Leu) | |
16 | g.56869758G>T | CA395980895 | SLC12A3 | c.535G>T (p.Val179Phe) c.532G>T (p.Val178Phe) | |
16 | g.56869759T>A | CA395980898 | SLC12A3 | c.536T>A (p.Val179Asp) c.533T>A (p.Val178Asp) | ClinVar dbSNP gnomAD v4 |
16 | g.56869759T>C | CA395980900 | SLC12A3 | c.536T>C (p.Val179Ala) c.533T>C (p.Val178Ala) | |
16 | g.56869759T>G | CA395980903 | SLC12A3 | c.536T>G (p.Val179Gly) c.533T>G (p.Val178Gly) | |
16 | g.56869759T= | CA2224349089 | SLC12A3 | c.536T= (p.Val179=) c.533T= (p.Val178=) | |
16 | g.56869760C>A | CA495602901 | SLC12A3 | c.537C>A (p.Val179=) c.534C>A (p.Val178=) | |
16 | g.56869760C= | CA2224349090 | SLC12A3 | c.537C= (p.Val179=) c.534C= (p.Val178=) | |
16 | g.56869760C>G | CA495602902 | SLC12A3 | c.537C>G (p.Val179=) c.534C>G (p.Val178=) | |
16 | g.56869760C>T | CA495602903 | SLC12A3 | c.537C>T (p.Val179=) c.534C>T (p.Val178=) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869761A>C | CA395980906 | SLC12A3 | c.538A>C (p.Thr180Pro) c.535A>C (p.Thr179Pro) | |
16 | g.56869761A>G | CA395980908 | SLC12A3 | c.538A>G (p.Thr180Ala) c.535A>G (p.Thr179Ala) | |
16 | g.56869761A>T | CA395980911 | SLC12A3 | c.538A>T (p.Thr180Ser) c.535A>T (p.Thr179Ser) | ClinVar |
16 | g.56869761_56869766delinsACGGTG | CA2224349091 | SLC12A3 | c.538_543delinsACGGTG (p.Thr180=) c.535_540delinsACGGTG (p.Thr179=) | |
16 | g.56869762C>A | CA8069091 | SLC12A3 | c.539C>A (p.Thr180Lys) c.536C>A (p.Thr179Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869762C= | CA2224349092 | SLC12A3 | c.539C= (p.Thr180=) c.536C= (p.Thr179=) | |
16 | g.56869762C>G | CA8069093 | SLC12A3 | c.539C>G (p.Thr180Arg) c.536C>G (p.Thr179Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869762C>T | CA8069092 | SLC12A3 | c.539C>T (p.Thr180Met) c.536C>T (p.Thr179Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869762_56869766del | CA622333567 | SLC12A3 | c.539_543del (p.Thr180AsnfsTer?) c.536_540del (p.Thr179AsnfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869763G>A | CA281496642 | SLC12A3 | c.540G>A (p.Thr180=) c.537G>A (p.Thr179=) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869763G>C | CA495602904 | SLC12A3 | c.540G>C (p.Thr180=) c.537G>C (p.Thr179=) | |
16 | g.56869763G= | CA2224349093 | SLC12A3 | c.540G= (p.Thr180=) c.537G= (p.Thr179=) | |
16 | g.56869763G>T | CA495602905 | SLC12A3 | c.540G>T (p.Thr180=) c.537G>T (p.Thr179=) | ClinVar dbSNP gnomAD v4 |
16 | g.56869764del | CA2633370204 | SLC12A3 | c.541del (p.Val181Ter) c.538del (p.Val180Ter) | gnomAD v4 |
16 | g.56869764G>A | CA395980924 | SLC12A3 | c.541G>A (p.Val181Met) c.538G>A (p.Val180Met) | |
16 | g.56869764G>C | CA395980926 | SLC12A3 | c.541G>C (p.Val181Leu) c.538G>C (p.Val180Leu) | |
16 | g.56869764G= | CA2224349094 | SLC12A3 | c.541G= (p.Val181=) c.538G= (p.Val180=) | |
16 | g.56869764G>T | CA8069094 | SLC12A3 | c.541G>T (p.Val181Leu) c.538G>T (p.Val180Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869765T>A | CA395980931 | SLC12A3 | c.542T>A (p.Val181Glu) c.539T>A (p.Val180Glu) | |
16 | g.56869765T>C | CA395980934 | SLC12A3 | c.542T>C (p.Val181Ala) c.539T>C (p.Val180Ala) | |
16 | g.56869765T>G | CA395980938 | SLC12A3 | c.542T>G (p.Val181Gly) c.539T>G (p.Val180Gly) | |
16 | g.56869766G>A | CA495602906 | SLC12A3 | c.543G>A (p.Val181=) c.540G>A (p.Val180=) | |
16 | g.56869766G>C | CA495602907 | SLC12A3 | c.543G>C (p.Val181=) c.540G>C (p.Val180=) | |
16 | g.56869766G>T | CA495602908 | SLC12A3 | c.543G>T (p.Val181=) c.540G>T (p.Val180=) | |
16 | g.56869767A>C | CA395980941 | SLC12A3 | c.544A>C (p.Thr182Pro) c.541A>C (p.Thr181Pro) | |
16 | g.56869767A>G | CA395980942 | SLC12A3 | c.544A>G (p.Thr182Ala) c.541A>G (p.Thr181Ala) | |
16 | g.56869767A>T | CA395980944 | SLC12A3 | c.544A>T (p.Thr182Ser) c.541A>T (p.Thr181Ser) | |
16 | g.56869768C>A | CA395980945 | SLC12A3 | c.545C>A (p.Thr182Asn) c.542C>A (p.Thr181Asn) | |
16 | g.56869768C= | CA2224349095 | SLC12A3 | c.545C= (p.Thr182=) c.542C= (p.Thr181=) | |
16 | g.56869768C>G | CA395980946 | SLC12A3 | c.545C>G (p.Thr182Ser) c.542C>G (p.Thr181Ser) | |
16 | g.56869768C>T | CA395980947 | SLC12A3 | c.545C>T (p.Thr182Ile) c.542C>T (p.Thr181Ile) | |
16 | g.56869769C>A | CA495602909 | SLC12A3 | c.546C>A (p.Thr182=) c.543C>A (p.Thr181=) | |
16 | g.56869769C>G | CA495602910 | SLC12A3 | c.546C>G (p.Thr182=) c.543C>G (p.Thr181=) | |
16 | g.56869769C>T | CA495602911 | SLC12A3 | c.546C>T (p.Thr182=) c.543C>T (p.Thr181=) | |
16 | g.56869770_56869771dup | CA8069095 | SLC12A3 | c.547_548dup (p.Ile184ProfsTer?) c.544_545dup (p.Ile183ProfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869770T>A | CA395980955 | SLC12A3 | c.547T>A (p.Ser183Thr) c.544T>A (p.Ser182Thr) | |
16 | g.56869770T>C | CA395980957 | SLC12A3 | c.547T>C (p.Ser183Pro) c.544T>C (p.Ser182Pro) | |
16 | g.56869770T>G | CA395980950 | SLC12A3 | c.547T>G (p.Ser183Ala) c.544T>G (p.Ser182Ala) | |
16 | g.56869772_56869775dup | CA2695223667 | SLC12A3 | c.549_552dup (p.Thr185HisfsTer?) c.546_549dup (p.Thr184HisfsTer?) | |
16 | g.56869771C>A | CA395980961 | SLC12A3 | c.548C>A (p.Ser183Tyr) c.545C>A (p.Ser182Tyr) | |
16 | g.56869771C= | CA2224349096 | SLC12A3 | c.548C= (p.Ser183=) c.545C= (p.Ser182=) | |
16 | g.56869771C>G | CA395980959 | SLC12A3 | c.548C>G (p.Ser183Cys) c.545C>G (p.Ser182Cys) | |
16 | g.56869771C>T | CA8069096 | SLC12A3 | c.548C>T (p.Ser183Phe) c.545C>T (p.Ser182Phe) | dbSNP ExAC gnomAD v2 |
16 | g.56869772C>A | CA495602912 | SLC12A3 | c.549C>A (p.Ser183=) c.546C>A (p.Ser182=) | |
16 | g.56869772C>G | CA495602914 | SLC12A3 | c.549C>G (p.Ser183=) c.546C>G (p.Ser182=) | |
16 | g.56869772C>T | CA495602913 | SLC12A3 | c.549C>T (p.Ser183=) c.546C>T (p.Ser182=) | |
16 | g.56869773A>C | CA395980965 | SLC12A3 | c.550A>C (p.Ile184Leu) c.547A>C (p.Ile183Leu) | gnomAD v4 |
16 | g.56869773A>G | CA395980967 | SLC12A3 | c.550A>G (p.Ile184Val) c.547A>G (p.Ile183Val) | |
16 | g.56869773A>T | CA395980969 | SLC12A3 | c.550A>T (p.Ile184Phe) c.547A>T (p.Ile183Phe) | |
16 | g.56869774T>A | CA395980971 | SLC12A3 | c.551T>A (p.Ile184Asn) c.548T>A (p.Ile183Asn) | |
16 | g.56869774T>C | CA395980973 | SLC12A3 | c.551T>C (p.Ile184Thr) c.548T>C (p.Ile183Thr) | |
16 | g.56869774T>G | CA395980974 | SLC12A3 | c.551T>G (p.Ile184Ser) c.548T>G (p.Ile183Ser) | |
16 | g.56869775C>A | CA495602915 | SLC12A3 | c.552C>A (p.Ile184=) c.549C>A (p.Ile183=) | |
16 | g.56869775C= | CA2224349097 | SLC12A3 | c.552C= (p.Ile184=) c.549C= (p.Ile183=) | |
16 | g.56869775C>G | CA395980975 | SLC12A3 | c.552C>G (p.Ile184Met) c.549C>G (p.Ile183Met) | |
16 | g.56869775C>T | CA495602916 | SLC12A3 | c.552C>T (p.Ile184=) c.549C>T (p.Ile183=) | dbSNP |
16 | g.56869776A>C | CA395980977 | SLC12A3 | c.553A>C (p.Thr185Pro) c.550A>C (p.Thr184Pro) | |
16 | g.56869776A>G | CA395980981 | SLC12A3 | c.553A>G (p.Thr185Ala) c.550A>G (p.Thr184Ala) | |
16 | g.56869776A>T | CA395980979 | SLC12A3 | c.553A>T (p.Thr185Ser) c.550A>T (p.Thr184Ser) | |
16 | g.56869777C>A | CA395980983 | SLC12A3 | c.554C>A (p.Thr185Lys) c.551C>A (p.Thr184Lys) | |
16 | g.56869777C>G | CA395980985 | SLC12A3 | c.554C>G (p.Thr185Arg) c.551C>G (p.Thr184Arg) | |
16 | g.56869777C>T | CA395980987 | SLC12A3 | c.554C>T (p.Thr185Ile) c.551C>T (p.Thr184Ile) | |
16 | g.56869777_56869779delinsCAG | CA2224349098 | SLC12A3 | c.554_556delinsCAG (p.Thr185=) c.551_553delinsCAG (p.Thr184=) | |
16 | g.56869778A>C | CA495602917 | SLC12A3 | c.555A>C (p.Thr185=) c.552A>C (p.Thr184=) | |
16 | g.56869778A>G | CA495602918 | SLC12A3 | c.555A>G (p.Thr185=) c.552A>G (p.Thr184=) | |
16 | g.56869778A>T | CA495602919 | SLC12A3 | c.555A>T (p.Thr185=) c.552A>T (p.Thr184=) | |
16 | g.56869778_56869779del | CA8069097 | SLC12A3 | c.555_556del (p.Gly186ProfsTer?) c.552_553del (p.Gly185ProfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869779G>A | CA8069098 | SLC12A3 | c.556G>A (p.Gly186Ser) c.553G>A (p.Gly185Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869779G>C | CA395980989 | SLC12A3 | c.556G>C (p.Gly186Arg) c.553G>C (p.Gly185Arg) | |
16 | g.56869779G= | CA2224349099 | SLC12A3 | c.556G= (p.Gly186=) c.553G= (p.Gly185=) | |
16 | g.56869779G>T | CA395980990 | SLC12A3 | c.556G>T (p.Gly186Cys) c.553G>T (p.Gly185Cys) | |
16 | g.56869780G>A | CA281496657 | SLC12A3 | c.557G>A (p.Gly186Asp) c.554G>A (p.Gly185Asp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869780G>C | CA8069099 | SLC12A3 | c.557G>C (p.Gly186Ala) c.554G>C (p.Gly185Ala) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869780G= | CA2224349100 | SLC12A3 | c.557G= (p.Gly186=) c.554G= (p.Gly185=) | |
16 | g.56869780G>T | CA395980993 | SLC12A3 | c.557G>T (p.Gly186Val) c.554G>T (p.Gly185Val) | gnomAD v4 |
16 | g.56869781C>A | CA8069100 | SLC12A3 | c.558C>A (p.Gly186=) c.555C>A (p.Gly185=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869781C= | CA2224349101 | SLC12A3 | c.558C= (p.Gly186=) c.555C= (p.Gly185=) | |
16 | g.56869781C>G | CA495602920 | SLC12A3 | c.558C>G (p.Gly186=) c.555C>G (p.Gly185=) | |
16 | g.56869781C>T | CA495602921 | SLC12A3 | c.558C>T (p.Gly186=) c.555C>T (p.Gly185=) | ClinVar gnomAD v4 |
16 | g.56869782C>A | CA395980997 | SLC12A3 | c.559C>A (p.Leu187Ile) c.556C>A (p.Leu186Ile) | |
16 | g.56869782C>G | CA395981000 | SLC12A3 | c.559C>G (p.Leu187Val) c.556C>G (p.Leu186Val) | |
16 | g.56869782C>T | CA395981002 | SLC12A3 | c.559C>T (p.Leu187Phe) c.556C>T (p.Leu186Phe) | gnomAD v4 |
16 | g.56869783T>A | CA395981004 | SLC12A3 | c.560T>A (p.Leu187His) c.557T>A (p.Leu186His) | |
16 | g.56869783T>C | CA395981006 | SLC12A3 | c.560T>C (p.Leu187Pro) c.557T>C (p.Leu186Pro) | |
16 | g.56869783T>G | CA395981008 | SLC12A3 | c.560T>G (p.Leu187Arg) c.557T>G (p.Leu186Arg) | |
16 | g.56869784C>A | CA495602922 | SLC12A3 | c.561C>A (p.Leu187=) c.558C>A (p.Leu186=) | COSMIC |
16 | g.56869784C= | CA2224349102 | SLC12A3 | c.561C= (p.Leu187=) c.558C= (p.Leu186=) | |
16 | g.56869784C>G | CA495602923 | SLC12A3 | c.561C>G (p.Leu187=) c.558C>G (p.Leu186=) | dbSNP |
16 | g.56869784C>T | CA495602924 | SLC12A3 | c.561C>T (p.Leu187=) c.558C>T (p.Leu186=) | gnomAD v4 |
16 | g.56869785T>A | CA395981012 | SLC12A3 | c.562T>A (p.Ser188Thr) c.559T>A (p.Ser187Thr) | |
16 | g.56869785T>C | CA395981015 | SLC12A3 | c.562T>C (p.Ser188Pro) c.559T>C (p.Ser187Pro) | |
16 | g.56869785T>G | CA395981017 | SLC12A3 | c.562T>G (p.Ser188Ala) c.559T>G (p.Ser187Ala) | |
16 | g.56869785_56869786delinsTC | CA2224349103 | SLC12A3 | c.562_563delinsTC (p.Ser188=) c.559_560delinsTC (p.Ser187=) | |
16 | g.56869786C>A | CA395981020 | SLC12A3 | c.563C>A (p.Ser188Tyr) c.560C>A (p.Ser187Tyr) | |
16 | g.56869786C= | CA2224349104 | SLC12A3 | c.563C= (p.Ser188=) c.560C= (p.Ser187=) | |
16 | g.56869786C>G | CA395981023 | SLC12A3 | c.563C>G (p.Ser188Cys) c.560C>G (p.Ser187Cys) | |
16 | g.56869786C>T | CA8069102 | SLC12A3 | c.563C>T (p.Ser188Phe) c.560C>T (p.Ser187Phe) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869787del | CA8069101 | SLC12A3 | c.564del (p.Ile189SerfsTer?) c.561del (p.Ile188SerfsTer?) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869787C>A | CA495602925 | SLC12A3 | c.564C>A (p.Ser188=) c.561C>A (p.Ser187=) | dbSNP |
16 | g.56869787C= | CA2224349105 | SLC12A3 | c.564C= (p.Ser188=) c.561C= (p.Ser187=) | |
16 | g.56869787C>G | CA495602926 | SLC12A3 | c.564C>G (p.Ser188=) c.561C>G (p.Ser187=) | |
16 | g.56869787C>T | CA495602927 | SLC12A3 | c.564C>T (p.Ser188=) c.561C>T (p.Ser187=) | |
16 | g.56869788A>C | CA395981026 | SLC12A3 | c.565A>C (p.Ile189Leu) c.562A>C (p.Ile188Leu) | |
16 | g.56869788A>G | CA395981027 | SLC12A3 | c.565A>G (p.Ile189Val) c.562A>G (p.Ile188Val) | gnomAD v4 |
16 | g.56869788A>T | CA395981031 | SLC12A3 | c.565A>T (p.Ile189Phe) c.562A>T (p.Ile188Phe) | |
16 | g.56869789T>A | CA395981034 | SLC12A3 | c.566T>A (p.Ile189Asn) c.563T>A (p.Ile188Asn) | |
16 | g.56869789T>C | CA395981036 | SLC12A3 | c.566T>C (p.Ile189Thr) c.563T>C (p.Ile188Thr) | |
16 | g.56869789T>G | CA395981038 | SLC12A3 | c.566T>G (p.Ile189Ser) c.563T>G (p.Ile188Ser) | |
16 | g.56869790C>A | CA495602928 | SLC12A3 | c.567C>A (p.Ile189=) c.564C>A (p.Ile188=) | |
16 | g.56869790C>G | CA395981041 | SLC12A3 | c.567C>G (p.Ile189Met) c.564C>G (p.Ile188Met) | |
16 | g.56869790C>T | CA495602929 | SLC12A3 | c.567C>T (p.Ile189=) c.564C>T (p.Ile188=) | ClinVar gnomAD v4 COSMIC |
16 | g.56869791T>A | CA395981045 | SLC12A3 | c.568T>A (p.Ser190Thr) c.565T>A (p.Ser189Thr) | |
16 | g.56869791T>C | CA395981048 | SLC12A3 | c.568T>C (p.Ser190Pro) c.565T>C (p.Ser189Pro) | |
16 | g.56869791T>G | CA395981049 | SLC12A3 | c.568T>G (p.Ser190Ala) c.565T>G (p.Ser189Ala) | gnomAD v4 |
16 | g.56869792C>A | CA395981053 | SLC12A3 | c.569C>A (p.Ser190Ter) c.566C>A (p.Ser189Ter) | ClinVar dbSNP |
16 | g.56869792C>G | CA395981051 | SLC12A3 | c.569C>G (p.Ser190Ter) c.566C>G (p.Ser189Ter) | |
16 | g.56869792C>T | CA395981050 | SLC12A3 | c.569C>T (p.Ser190Leu) c.566C>T (p.Ser189Leu) | COSMIC |
16 | g.56869793A= | CA2224349106 | SLC12A3 | c.570A= (p.Ser190=) c.567A= (p.Ser189=) | |
16 | g.56869793A>C | CA8069103 | SLC12A3 | c.570A>C (p.Ser190=) c.567A>C (p.Ser189=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869793A>G | CA495602931 | SLC12A3 | c.570A>G (p.Ser190=) c.567A>G (p.Ser189=) | |
16 | g.56869793A>T | CA495602930 | SLC12A3 | c.570A>T (p.Ser190=) c.567A>T (p.Ser189=) | |
16 | g.56869794G>A | CA395981058 | SLC12A3 | c.571G>A (p.Ala191Thr) c.568G>A (p.Ala190Thr) | |
16 | g.56869794G>C | CA395981060 | SLC12A3 | c.571G>C (p.Ala191Pro) c.568G>C (p.Ala190Pro) | |
16 | g.56869794G>T | CA395981062 | SLC12A3 | c.571G>T (p.Ala191Ser) c.568G>T (p.Ala190Ser) | |
16 | g.56869795C>A | CA395981064 | SLC12A3 | c.572C>A (p.Ala191Asp) c.569C>A (p.Ala190Asp) | |
16 | g.56869795C>G | CA395981068 | SLC12A3 | c.572C>G (p.Ala191Gly) c.569C>G (p.Ala190Gly) | |
16 | g.56869795C>T | CA395981072 | SLC12A3 | c.572C>T (p.Ala191Val) c.569C>T (p.Ala190Val) | |
16 | g.56869796C>A | CA495602932 | SLC12A3 | c.573C>A (p.Ala191=) c.570C>A (p.Ala190=) | |
16 | g.56869796C>G | CA495602933 | SLC12A3 | c.573C>G (p.Ala191=) c.570C>G (p.Ala190=) | |
16 | g.56869796C>T | CA495602934 | SLC12A3 | c.573C>T (p.Ala191=) c.570C>T (p.Ala190=) | |
16 | g.56869797A= | CA2224349107 | SLC12A3 | c.574A= (p.Ile192=) c.571A= (p.Ile191=) | |
16 | g.56869797A>C | CA395981080 | SLC12A3 | c.574A>C (p.Ile192Leu) c.571A>C (p.Ile191Leu) | |
16 | g.56869797A>G | CA395981084 | SLC12A3 | c.574A>G (p.Ile192Val) c.571A>G (p.Ile191Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869797A>T | CA395981088 | SLC12A3 | c.574A>T (p.Ile192Phe) c.571A>T (p.Ile191Phe) | |
16 | g.56869798T>A | CA395981091 | SLC12A3 | c.575T>A (p.Ile192Asn) c.572T>A (p.Ile191Asn) | |
16 | g.56869798T>C | CA395981098 | SLC12A3 | c.575T>C (p.Ile192Thr) c.572T>C (p.Ile191Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869798T>G | CA395981100 | SLC12A3 | c.575T>G (p.Ile192Ser) c.572T>G (p.Ile191Ser) | |
16 | g.56869798T= | CA2224349108 | SLC12A3 | c.575T= (p.Ile192=) c.572T= (p.Ile191=) | |
16 | g.56869799C>A | CA495602935 | SLC12A3 | c.576C>A (p.Ile192=) c.573C>A (p.Ile191=) | |
16 | g.56869799C>G | CA395981105 | SLC12A3 | c.576C>G (p.Ile192Met) c.573C>G (p.Ile191Met) | gnomAD v4 |
16 | g.56869799C>T | CA495602936 | SLC12A3 | c.576C>T (p.Ile192=) c.573C>T (p.Ile191=) | |
16 | g.56869800T>A | CA395981112 | SLC12A3 | c.577T>A (p.Ser193Thr) c.574T>A (p.Ser192Thr) | |
16 | g.56869800T>C | CA395981109 | SLC12A3 | c.577T>C (p.Ser193Pro) c.574T>C (p.Ser192Pro) | |
16 | g.56869800T>G | CA395981114 | SLC12A3 | c.577T>G (p.Ser193Ala) c.574T>G (p.Ser192Ala) | |
16 | g.56869801C>A | CA395981117 | SLC12A3 | c.578C>A (p.Ser193Tyr) c.575C>A (p.Ser192Tyr) | gnomAD v4 |
16 | g.56869801C= | CA2224349109 | SLC12A3 | c.578C= (p.Ser193=) c.575C= (p.Ser192=) | |
16 | g.56869801C>G | CA395981120 | SLC12A3 | c.578C>G (p.Ser193Cys) c.575C>G (p.Ser192Cys) | |
16 | g.56869801C>T | CA395981121 | SLC12A3 | c.578C>T (p.Ser193Phe) c.575C>T (p.Ser192Phe) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869804_56869806del | CA2695223668 | SLC12A3 | c.581_583del (p.Thr194del) c.578_580del (p.Thr193del) | |
16 | g.56869802C>A | CA495602937 | SLC12A3 | c.579C>A (p.Ser193=) c.576C>A (p.Ser192=) | |
16 | g.56869802C>G | CA495602938 | SLC12A3 | c.579C>G (p.Ser193=) c.576C>G (p.Ser192=) | |
16 | g.56869802C>T | CA495602939 | SLC12A3 | c.579C>T (p.Ser193=) c.576C>T (p.Ser192=) | |
16 | g.56869803A>C | CA395981122 | SLC12A3 | c.580A>C (p.Thr194Pro) c.577A>C (p.Thr193Pro) | |
16 | g.56869803A>G | CA395981124 | SLC12A3 | c.580A>G (p.Thr194Ala) c.577A>G (p.Thr193Ala) | |
16 | g.56869803A>T | CA395981128 | SLC12A3 | c.580A>T (p.Thr194Ser) c.577A>T (p.Thr193Ser) | |
16 | g.56869804C>A | CA395981130 | SLC12A3 | c.581C>A (p.Thr194Asn) c.578C>A (p.Thr193Asn) | |
16 | g.56869804C>G | CA395981133 | SLC12A3 | c.581C>G (p.Thr194Ser) c.578C>G (p.Thr193Ser) | |
16 | g.56869804C>T | CA395981135 | SLC12A3 | c.581C>T (p.Thr194Ile) c.578C>T (p.Thr193Ile) | ClinVar gnomAD v4 |
16 | g.56869805C>A | CA495602940 | SLC12A3 | c.582C>A (p.Thr194=) c.579C>A (p.Thr193=) | gnomAD v4 |
16 | g.56869805C>G | CA495602941 | SLC12A3 | c.582C>G (p.Thr194=) c.579C>G (p.Thr193=) | ClinVar |
16 | g.56869805C>T | CA495602942 | SLC12A3 | c.582C>T (p.Thr194=) c.579C>T (p.Thr193=) | |
16 | g.56869806A= | CA2224349110 | SLC12A3 | c.583A= (p.Asn195=) c.580A= (p.Asn194=) | |
16 | g.56869806A>C | CA395981137 | SLC12A3 | c.583A>C (p.Asn195His) c.580A>C (p.Asn194His) | |
16 | g.56869806A>G | CA395981139 | SLC12A3 | c.583A>G (p.Asn195Asp) c.580A>G (p.Asn194Asp) | dbSNP |
16 | g.56869806A>T | CA395981140 | SLC12A3 | c.583A>T (p.Asn195Tyr) c.580A>T (p.Asn194Tyr) | |
16 | g.56869807A>C | CA395981151 | SLC12A3 | c.584A>C (p.Asn195Thr) c.581A>C (p.Asn194Thr) | |
16 | g.56869807A>G | CA395981141 | SLC12A3 | c.584A>G (p.Asn195Ser) c.581A>G (p.Asn194Ser) | |
16 | g.56869807A>T | CA395981143 | SLC12A3 | c.584A>T (p.Asn195Ile) c.581A>T (p.Asn194Ile) | |
16 | g.56869808T>A | CA395981154 | SLC12A3 | c.585T>A (p.Asn195Lys) c.582T>A (p.Asn194Lys) | |
16 | g.56869808T>C | CA495602943 | SLC12A3 | c.585T>C (p.Asn195=) c.582T>C (p.Asn194=) | dbSNP |
16 | g.56869808T>G | CA395981158 | SLC12A3 | c.585T>G (p.Asn195Lys) c.582T>G (p.Asn194Lys) | |
16 | g.56869808T= | CA2224349111 | SLC12A3 | c.585T= (p.Asn195=) c.582T= (p.Asn194=) | |
16 | g.56869809G>A | CA395981162 | SLC12A3 | c.586G>A (p.Gly196Ser) c.583G>A (p.Gly195Ser) | gnomAD v4 |
16 | g.56869809G>C | CA395981171 | SLC12A3 | c.586G>C (p.Gly196Arg) c.583G>C (p.Gly195Arg) | |
16 | g.56869809G>T | CA395981174 | SLC12A3 | c.586G>T (p.Gly196Cys) c.583G>T (p.Gly195Cys) | |
16 | g.56869810G>A | CA395981178 | SLC12A3 | c.587G>A (p.Gly196Asp) c.584G>A (p.Gly195Asp) | gnomAD v4 |
16 | g.56869810G>C | CA395981179 | SLC12A3 | c.587G>C (p.Gly196Ala) c.584G>C (p.Gly195Ala) | |
16 | g.56869810G= | CA2224349112 | SLC12A3 | c.587G= (p.Gly196=) c.584G= (p.Gly195=) | |
16 | g.56869810G>T | CA395981182 | SLC12A3 | c.587G>T (p.Gly196Val) c.584G>T (p.Gly195Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869811C>A | CA495602944 | SLC12A3 | c.588C>A (p.Gly196=) c.585C>A (p.Gly195=) | gnomAD v4 |
16 | g.56869811C>G | CA495602945 | SLC12A3 | c.588C>G (p.Gly196=) c.585C>G (p.Gly195=) | |
16 | g.56869811C>T | CA495602946 | SLC12A3 | c.588C>T (p.Gly196=) c.585C>T (p.Gly195=) | |
16 | g.56869812A>C | CA395981194 | SLC12A3 | c.589A>C (p.Lys197Gln) c.586A>C (p.Lys196Gln) | |
16 | g.56869812A>G | CA395981195 | SLC12A3 | c.589A>G (p.Lys197Glu) c.586A>G (p.Lys196Glu) | |
16 | g.56869812A>T | CA395981199 | SLC12A3 | c.589A>T (p.Lys197Ter) c.586A>T (p.Lys196Ter) | |
16 | g.56869813A>C | CA395981205 | SLC12A3 | c.590A>C (p.Lys197Thr) c.587A>C (p.Lys196Thr) | |
16 | g.56869813A>G | CA395981208 | SLC12A3 | c.590A>G (p.Lys197Arg) c.587A>G (p.Lys196Arg) | |
16 | g.56869813A>T | CA395981203 | SLC12A3 | c.590A>T (p.Lys197Met) c.587A>T (p.Lys196Met) | |
16 | g.56869814G>A | CA495602947 | SLC12A3 | c.591G>A (p.Lys197=) c.588G>A (p.Lys196=) | |
16 | g.56869814G>C | CA395981211 | SLC12A3 | c.591G>C (p.Lys197Asn) c.588G>C (p.Lys196Asn) | |
16 | g.56869814G= | CA2224349113 | SLC12A3 | c.591G= (p.Lys197=) c.588G= (p.Lys196=) | |
16 | g.56869814G>T | CA395981214 | SLC12A3 | c.591G>T (p.Lys197Asn) c.588G>T (p.Lys196Asn) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
16 | g.56869815G>A | CA8069104 | SLC12A3 | c.592G>A (p.Val198Ile) c.589G>A (p.Val197Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869815G>C | CA395981218 | SLC12A3 | c.592G>C (p.Val198Leu) c.589G>C (p.Val197Leu) | |
16 | g.56869815G= | CA2224349114 | SLC12A3 | c.592G= (p.Val198=) c.589G= (p.Val197=) | |
16 | g.56869815G>T | CA395981219 | SLC12A3 | c.592G>T (p.Val198Phe) c.589G>T (p.Val197Phe) | gnomAD v4 |
16 | g.56869816T>A | CA395981220 | SLC12A3 | c.593T>A (p.Val198Asp) c.590T>A (p.Val197Asp) | |
16 | g.56869816T>C | CA395981221 | SLC12A3 | c.593T>C (p.Val198Ala) c.590T>C (p.Val197Ala) | |
16 | g.56869816T>G | CA395981223 | SLC12A3 | c.593T>G (p.Val198Gly) c.590T>G (p.Val197Gly) | |
16 | g.56869817C>A | CA495602950 | SLC12A3 | c.594C>A (p.Val198=) c.591C>A (p.Val197=) | |
16 | g.56869817C>G | CA495602949 | SLC12A3 | c.594C>G (p.Val198=) c.591C>G (p.Val197=) | |
16 | g.56869817C>T | CA495602948 | SLC12A3 | c.594C>T (p.Val198=) c.591C>T (p.Val197=) | |
16 | g.56869817_56869819delinsCAA | CA2224349115 | SLC12A3 | c.594_596delinsCAA (p.Val198=) c.591_593delinsCAA (p.Val197=) | |
16 | g.56869818A>C | CA395981227 | SLC12A3 | c.595A>C (p.Lys199Gln) c.592A>C (p.Lys198Gln) | gnomAD v4 |
16 | g.56869818A>G | CA395981230 | SLC12A3 | c.595A>G (p.Lys199Glu) c.592A>G (p.Lys198Glu) | |
16 | g.56869818A>T | CA395981232 | SLC12A3 | c.595A>T (p.Lys199Ter) c.592A>T (p.Lys198Ter) | |
16 | g.56869818_56869819del | CA977637953 | SLC12A3 | c.595_596del (p.Lys199ValfsTer?) c.592_593del (p.Lys198ValfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869819del | CA2633370362 | SLC12A3 | c.596del (p.Lys199SerfsTer?) c.593del (p.Lys198SerfsTer?) | gnomAD v4 |
16 | g.56869819A= | CA2224349116 | SLC12A3 | c.596A= (p.Lys199=) c.593A= (p.Lys198=) | |
16 | g.56869819A>C | CA395981234 | SLC12A3 | c.596A>C (p.Lys199Thr) c.593A>C (p.Lys198Thr) | |
16 | g.56869819A>G | CA8069105 | SLC12A3 | c.596A>G (p.Lys199Arg) c.593A>G (p.Lys198Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869819A>T | CA395981235 | SLC12A3 | c.596A>T (p.Lys199Met) c.593A>T (p.Lys198Met) | |
16 | g.56869820G>A | CA495602951 | SLC12A3 | c.597G>A (p.Lys199=) c.594G>A (p.Lys198=) | gnomAD v4 |
16 | g.56869820G>C | CA395981238 | SLC12A3 | c.597G>C (p.Lys199Asn) c.594G>C (p.Lys198Asn) | |
16 | g.56869820G>T | CA395981243 | SLC12A3 | c.597G>T (p.Lys199Asn) c.594G>T (p.Lys198Asn) | |
16 | g.56869821_56869829del | CA645573538 | SLC12A3 | c.598_601+5del c.595_598+5del | COSMIC |
16 | g.56869821T>A | CA395981247 | SLC12A3 | c.598T>A (p.Ser200Thr) c.595T>A (p.Ser199Thr) | |
16 | g.56869821T>C | CA395981250 | SLC12A3 | c.598T>C (p.Ser200Pro) c.595T>C (p.Ser199Pro) | |
16 | g.56869821T>G | CA395981253 | SLC12A3 | c.598T>G (p.Ser200Ala) c.595T>G (p.Ser199Ala) | |
16 | g.56869822C>A | CA395981256 | SLC12A3 | c.599C>A (p.Ser200Ter) c.596C>A (p.Ser199Ter) | |
16 | g.56869822C>G | CA395981268 | SLC12A3 | c.599C>G (p.Ser200Ter) c.596C>G (p.Ser199Ter) | |
16 | g.56869822C>T | CA395981270 | SLC12A3 | c.599C>T (p.Ser200Leu) c.596C>T (p.Ser199Leu) | |
16 | g.56869823A= | CA2224349117 | SLC12A3 | c.600A= (p.Ser200=) c.597A= (p.Ser199=) | |
16 | g.56869823A>C | CA495602952 | SLC12A3 | c.600A>C (p.Ser200=) c.597A>C (p.Ser199=) | |
16 | g.56869823A>G | CA8069106 | SLC12A3 | c.600A>G (p.Ser200=) c.597A>G (p.Ser199=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869823A>T | CA495602953 | SLC12A3 | c.600A>T (p.Ser200=) c.597A>T (p.Ser199=) | |
16 | g.56869824G>A | CA395981282 | SLC12A3 | c.601G>A (p.Gly201Ser) c.598G>A (p.Gly200Ser) | |
16 | g.56869824G>C | CA395981284 | SLC12A3 | c.601G>C (p.Gly201Arg) c.598G>C (p.Gly200Arg) | |
16 | g.56869824G>T | CA395981289 | SLC12A3 | c.601G>T (p.Gly201Cys) c.598G>T (p.Gly200Cys) | |
16 | g.56869825G>A | CA395981294 | SLC12A3 | c.601+1G>A (n.601+1G>A) c.598+1G>A (n.598+1G>A) | |
16 | g.56869825G>C | CA395981298 | SLC12A3 | c.601+1G>C (n.601+1G>C) c.598+1G>C (n.598+1G>C) | ClinVar |
16 | g.56869825G>T | CA395981299 | SLC12A3 | c.601+1G>T (n.601+1G>T) c.598+1G>T (n.598+1G>T) | |
16 | g.56869826T>A | CA395981310 | SLC12A3 | c.601+2T>A (n.601+2T>A) c.598+2T>A (n.598+2T>A) | gnomAD v4 |
16 | g.56869826T>C | CA395981307 | SLC12A3 | c.601+2T>C (n.601+2T>C) c.598+2T>C (n.598+2T>C) | |
16 | g.56869826T>G | CA395981303 | SLC12A3 | c.601+2T>G (n.601+2T>G) c.598+2T>G (n.598+2T>G) | |
16 | g.56869827G= | CA2224349118 | SLC12A3 | c.601+3G= (n.601+3G=) c.598+3G= (n.598+3G=) | |
16 | g.56869827G>T | CA8069107 | SLC12A3 | c.601+3G>T (n.601+3G>T) c.598+3G>T (n.598+3G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869828G>A | CA912996055 | SLC12A3 | c.601+4G>A (n.601+4G>A) c.598+4G>A (n.598+4G>A) | |
16 | g.56869828_56869829insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT | CA2633370381 | SLC12A3 | c.601+4_601+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT (n.601+4_601+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT) c.598+4_598+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT (n.598+4_598+5insCACCTACTTCCTCATCTCCCGGAGTCTGGGCCCAGAGCTT) | gnomAD v4 |