Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56863765_56872392del | CA1139664706 | ClinVar | ||
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 |
16 | g.56869830C>A | CA2633370383 | SLC12A3 | c.601+6C>A (n.601+6C>A) c.598+6C>A (n.598+6C>A) | gnomAD v4 |
16 | g.56869830C>T | CA2633370385 | SLC12A3 | c.601+6C>T (n.601+6C>T) c.598+6C>T (n.598+6C>T) | gnomAD v4 |
16 | g.56869831_56869832insTTGGTGGAAAGGGGG | CA2633370390 | SLC12A3 | c.601+7_601+8insTTGGTGGAAAGGGGG (n.601+7_601+8insTTGGTGGAAAGGGGG) c.598+7_598+8insTTGGTGGAAAGGGGG (n.598+7_598+8insTTGGTGGAAAGGGGG) | gnomAD v4 |
16 | g.56869832A= | CA2224349119 | SLC12A3 | c.601+8A= (n.601+8A=) c.598+8A= (n.598+8A=) | |
16 | g.56869832A>G | CA722004783 | SLC12A3 | c.601+8A>G (n.601+8A>G) c.598+8A>G (n.598+8A>G) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869832A>T | CA2573152448 | SLC12A3 | c.601+8A>T (n.601+8A>T) c.598+8A>T (n.598+8A>T) | ClinVar dbSNP gnomAD v4 |
16 | g.56869833T>C | CA2499223587 | SLC12A3 | c.601+9T>C (n.601+9T>C) c.598+9T>C (n.598+9T>C) | ClinVar dbSNP gnomAD v4 |
16 | g.56869838_56869900del | CA2633370394 | SLC12A3 | c.601+14_601+76del (n.601+14_601+76del) c.598+14_598+76del (n.598+14_598+76del) | gnomAD v4 |
16 | g.56869833_56869834insGG | CA2633370398 | SLC12A3 | c.601+9_601+10insGG (n.601+9_601+10insGG) c.598+9_598+10insGG (n.598+9_598+10insGG) | gnomAD v4 |
16 | g.56869834C= | CA2224349120 | SLC12A3 | c.601+10C= (n.601+10C=) c.598+10C= (n.598+10C=) | |
16 | g.56869834C>G | CA622333568 | SLC12A3 | c.601+10C>G (n.601+10C>G) c.598+10C>G (n.598+10C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869834C>T | CA2807159803 | SLC12A3 | c.601+10C>T (n.601+10C>T) c.598+10C>T (n.598+10C>T) | |
16 | g.56869835C= | CA2224349121 | SLC12A3 | c.601+11C= (n.601+11C=) c.598+11C= (n.598+11C=) | |
16 | g.56869835C>T | CA622333569 | SLC12A3 | c.601+11C>T (n.601+11C>T) c.598+11C>T (n.598+11C>T) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869836C= | CA2224349122 | SLC12A3 | c.601+12C= (n.601+12C=) c.598+12C= (n.598+12C=) | |
16 | g.56869836C>T | CA622333570 | SLC12A3 | c.601+12C>T (n.601+12C>T) c.598+12C>T (n.598+12C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869837C= | CA2224349123 | SLC12A3 | c.601+13C= (n.601+13C=) c.598+13C= (n.598+13C=) | |
16 | g.56869837C>G | CA2739266786 | SLC12A3 | c.601+13C>G (n.601+13C>G) c.598+13C>G (n.598+13C>G) | ClinVar |
16 | g.56869837C>T | CA2224349124 | SLC12A3 | c.601+13C>T (n.601+13C>T) c.598+13C>T (n.598+13C>T) | dbSNP gnomAD v4 |
16 | g.56869838C>A | CA2633370401 | SLC12A3 | c.601+14C>A (n.601+14C>A) c.598+14C>A (n.598+14C>A) | gnomAD v4 |
16 | g.56869838C= | CA2224349125 | SLC12A3 | c.601+14C= (n.601+14C=) c.598+14C= (n.598+14C=) | |
16 | g.56869838C>G | CA2633370404 | SLC12A3 | c.601+14C>G (n.601+14C>G) c.598+14C>G (n.598+14C>G) | gnomAD v4 |
16 | g.56869838C>T | CA622333571 | SLC12A3 | c.601+14C>T (n.601+14C>T) c.598+14C>T (n.598+14C>T) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869841del | CA2633370406 | SLC12A3 | c.601+17del (n.601+17del) c.598+17del (n.598+17del) | gnomAD v4 |
16 | g.56869840T>G | CA2633370407 | SLC12A3 | c.601+16T>G (n.601+16T>G) c.598+16T>G (n.598+16T>G) | gnomAD v4 |
16 | g.56869841T>A | CA2633370409 | SLC12A3 | c.601+17T>A (n.601+17T>A) c.598+17T>A (n.598+17T>A) | gnomAD v4 |
16 | g.56869841_56869842delinsTC | CA2224349126 | SLC12A3 | c.601+17_601+18delinsTC (n.601+17_601+18delinsTC) c.598+17_598+18delinsTC (n.598+17_598+18delinsTC) | |
16 | g.56869842C>T | CA2739266787 | SLC12A3 | c.601+18C>T (n.601+18C>T) c.598+18C>T (n.598+18C>T) | ClinVar |
16 | g.56869843del | CA8069108 | SLC12A3 | c.601+19del (n.601+19del) c.598+19del (n.598+19del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869843C>A | CA2633370412 | SLC12A3 | c.601+19C>A (n.601+19C>A) c.598+19C>A (n.598+19C>A) | gnomAD v4 |
16 | g.56869845C>A | CA2633370414 | SLC12A3 | c.601+21C>A (n.601+21C>A) c.598+21C>A (n.598+21C>A) | gnomAD v4 |
16 | g.56869845C= | CA2224349127 | SLC12A3 | c.601+21C= (n.601+21C=) c.598+21C= (n.598+21C=) | |
16 | g.56869845C>T | CA8069109 | SLC12A3 | c.601+21C>T (n.601+21C>T) c.598+21C>T (n.598+21C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869846C>A | CA2576001861 | SLC12A3 | c.601+22C>A (n.601+22C>A) c.598+22C>A (n.598+22C>A) | gnomAD v4 |
16 | g.56869846C>T | CA2576001860 | SLC12A3 | c.601+22C>T (n.601+22C>T) c.598+22C>T (n.598+22C>T) | gnomAD v4 |
16 | g.56869848A>C | CA2633370415 | SLC12A3 | c.601+24A>C (n.601+24A>C) c.598+24A>C (n.598+24A>C) | gnomAD v4 |
16 | g.56869849G>A | CA8069110 | SLC12A3 | c.601+25G>A (n.601+25G>A) c.598+25G>A (n.598+25G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869849G= | CA2224349128 | SLC12A3 | c.601+25G= (n.601+25G=) c.598+25G= (n.598+25G=) | |
16 | g.56869851C>A | CA2633370420 | SLC12A3 | c.601+27C>A (n.601+27C>A) c.598+27C>A (n.598+27C>A) | gnomAD v4 |
16 | g.56869851C= | CA2224349129 | SLC12A3 | c.601+27C= (n.601+27C=) c.598+27C= (n.598+27C=) | |
16 | g.56869851C>T | CA977637963 | SLC12A3 | c.601+27C>T (n.601+27C>T) c.598+27C>T (n.598+27C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869853del | CA2576001863 | SLC12A3 | c.601+29del (n.601+29del) c.598+29del (n.598+29del) | |
16 | g.56869852C= | CA2224349130 | SLC12A3 | c.601+28C= (n.601+28C=) c.598+28C= (n.598+28C=) | |
16 | g.56869852C>T | CA977637967 | SLC12A3 | c.601+28C>T (n.601+28C>T) c.598+28C>T (n.598+28C>T) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869853C>A | CA2576001864 | SLC12A3 | c.601+29C>A (n.601+29C>A) c.598+29C>A (n.598+29C>A) | |
16 | g.56869853_56869854insACGAGAGGAGGGCCTTGG | CA2633370422 | SLC12A3 | c.601+29_601+30insACGAGAGGAGGGCCTTGG (n.601+29_601+30insACGAGAGGAGGGCCTTGG) c.598+29_598+30insACGAGAGGAGGGCCTTGG (n.598+29_598+30insACGAGAGGAGGGCCTTGG) | gnomAD v4 |
16 | g.56869855C>A | CA622333572 | SLC12A3 | c.601+31C>A (n.601+31C>A) c.598+31C>A (n.598+31C>A) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869855C= | CA2224349131 | SLC12A3 | c.601+31C= (n.601+31C=) c.598+31C= (n.598+31C=) | |
16 | g.56869855C>T | CA8069111 | SLC12A3 | c.601+31C>T (n.601+31C>T) c.598+31C>T (n.598+31C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869856C= | CA2224349132 | SLC12A3 | c.601+32C= (n.601+32C=) c.598+32C= (n.598+32C=) | |
16 | g.56869856C>G | CA622333573 | SLC12A3 | c.601+32C>G (n.601+32C>G) c.598+32C>G (n.598+32C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869859_56869860del | CA2633370430 | SLC12A3 | c.601+35_601+36del (n.601+35_601+36del) c.598+35_598+36del (n.598+35_598+36del) | gnomAD v4 |
16 | g.56869857T>C | CA2633370434 | SLC12A3 | c.601+33T>C (n.601+33T>C) c.598+33T>C (n.598+33T>C) | gnomAD v4 |
16 | g.56869860C>A | CA622333574 | SLC12A3 | c.601+36C>A (n.601+36C>A) c.598+36C>A (n.598+36C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869860C= | CA2224349133 | SLC12A3 | c.601+36C= (n.601+36C=) c.598+36C= (n.598+36C=) | |
16 | g.56869860C>G | CA622333575 | SLC12A3 | c.601+36C>G (n.601+36C>G) c.598+36C>G (n.598+36C>G) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869860C>T | CA8069112 | SLC12A3 | c.601+36C>T (n.601+36C>T) c.598+36C>T (n.598+36C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869861G>A | CA8069113 | SLC12A3 | c.601+37G>A (n.601+37G>A) c.598+37G>A (n.598+37G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869861G= | CA2224349134 | SLC12A3 | c.601+37G= (n.601+37G=) c.598+37G= (n.598+37G=) | |
16 | g.56869861G>T | CA622333576 | SLC12A3 | c.601+37G>T (n.601+37G>T) c.598+37G>T (n.598+37G>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869862T>C | CA8069114 | SLC12A3 | c.601+38T>C (n.601+38T>C) c.598+38T>C (n.598+38T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869862T>G | CA722004812 | SLC12A3 | c.601+38T>G (n.601+38T>G) c.598+38T>G (n.598+38T>G) | dbSNP gnomAD v3 gnomAD v4 |
16 | g.56869862T= | CA2224349135 | SLC12A3 | c.601+38T= (n.601+38T=) c.598+38T= (n.598+38T=) | |
16 | g.56869863G>A | CA622333577 | SLC12A3 | c.601+39G>A (n.601+39G>A) c.598+39G>A (n.598+39G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869863G= | CA2224349136 | SLC12A3 | c.601+39G= (n.601+39G=) c.598+39G= (n.598+39G=) | |
16 | g.56869863G>T | CA8069115 | SLC12A3 | c.601+39G>T (n.601+39G>T) c.598+39G>T (n.598+39G>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56869864G= | CA2224349137 | SLC12A3 | c.601+40G= (n.601+40G=) c.598+40G= (n.598+40G=) | |
16 | g.56869864G>T | CA8069116 | SLC12A3 | c.601+40G>T (n.601+40G>T) c.598+40G>T (n.598+40G>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56869865G>A | CA622333580 | SLC12A3 | c.601+41G>A (n.601+41G>A) c.598+41G>A (n.598+41G>A) | dbSNP gnomAD v2 |
16 | g.56869865G>C | CA2576001871 | SLC12A3 | c.601+41G>C (n.601+41G>C) c.598+41G>C (n.598+41G>C) | |
16 | g.56869865G= | CA2224349138 | SLC12A3 | c.601+41G= (n.601+41G=) c.598+41G= (n.598+41G=) | |
16 | g.56869865G>T | CA2633370451 | SLC12A3 | c.601+41G>T (n.601+41G>T) c.598+41G>T (n.598+41G>T) | gnomAD v4 |
16 | g.56869866C>A | CA2576001872 | SLC12A3 | c.601+42C>A (n.601+42C>A) c.598+42C>A (n.598+42C>A) | gnomAD v4 |
16 | g.56869866C>T | CA2633370452 | SLC12A3 | c.601+42C>T (n.601+42C>T) c.598+42C>T (n.598+42C>T) | gnomAD v4 |
16 | g.56869868C>G | CA2576001874 | SLC12A3 | c.601+44C>G (n.601+44C>G) c.598+44C>G (n.598+44C>G) | |
16 | g.56869868C>T | CA2633370453 | SLC12A3 | c.601+44C>T (n.601+44C>T) c.598+44C>T (n.598+44C>T) | gnomAD v4 |
16 | g.56869869C>T | CA2576001875 | SLC12A3 | c.601+45C>T (n.601+45C>T) c.598+45C>T (n.598+45C>T) | |
16 | g.56869871A= | CA2224349139 | SLC12A3 | c.601+47A= (n.601+47A=) c.598+47A= (n.598+47A=) | |
16 | g.56869871A>T | CA622333582 | SLC12A3 | c.601+47A>T (n.601+47A>T) c.598+47A>T (n.598+47A>T) | dbSNP gnomAD v2 gnomAD v4 |
16 | g.56869872A= | CA2224349140 | SLC12A3 | c.601+48A= (n.601+48A=) c.598+48A= (n.598+48A=) | |
16 | g.56869872A>C | CA2224349141 | SLC12A3 | c.601+48A>C (n.601+48A>C) c.598+48A>C (n.598+48A>C) | dbSNP gnomAD v4 |
16 | g.56869874C>A | CA2633370457 | SLC12A3 | c.601+50C>A (n.601+50C>A) c.598+50C>A (n.598+50C>A) | gnomAD v4 |
16 | g.56869874C= | CA2224349142 | SLC12A3 | c.601+50C= (n.601+50C=) c.598+50C= (n.598+50C=) | |
16 | g.56869874C>G | CA2224349143 | SLC12A3 | c.601+50C>G (n.601+50C>G) c.598+50C>G (n.598+50C>G) | dbSNP gnomAD v4 |
16 | g.56869874C>T | CA622333584 | SLC12A3 | c.601+50C>T (n.601+50C>T) c.598+50C>T (n.598+50C>T) | dbSNP gnomAD v2 |
16 | g.56869875C>G | CA2633370459 | SLC12A3 | c.601+51C>G (n.601+51C>G) c.598+51C>G (n.598+51C>G) | gnomAD v4 |