Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.56879168A= | CA2224353768 | SLC12A3 | c.1276A= (p.Asn426=) c.1273A= (p.Asn425=) | |
16 | g.56879168A>C | CA395986030 | SLC12A3 | c.1276A>C (p.Asn426His) c.1273A>C (p.Asn425His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879168A>G | CA8069410 | SLC12A3 | c.1276A>G (p.Asn426Asp) c.1273A>G (p.Asn425Asp) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879168A>T | CA16609823 | SLC12A3 | c.1276A>T (p.Asn426Tyr) c.1273A>T (p.Asn425Tyr) | ClinVar dbSNP |
16 | g.56879169A>C | CA395986034 | SLC12A3 | c.1277A>C (p.Asn426Thr) c.1274A>C (p.Asn425Thr) | |
16 | g.56879169A>G | CA395986043 | SLC12A3 | c.1277A>G (p.Asn426Ser) c.1274A>G (p.Asn425Ser) | |
16 | g.56879169A>T | CA395986045 | SLC12A3 | c.1277A>T (p.Asn426Ile) c.1274A>T (p.Asn425Ile) | |
16 | g.56879170C>A | CA395986051 | SLC12A3 | c.1278C>A (p.Asn426Lys) c.1275C>A (p.Asn425Lys) | |
16 | g.56879170C>G | CA395986048 | SLC12A3 | c.1278C>G (p.Asn426Lys) c.1275C>G (p.Asn425Lys) | |
16 | g.56879170C>T | CA495603732 | SLC12A3 | c.1278C>T (p.Asn426=) c.1275C>T (p.Asn425=) | |
16 | g.56879171T>A | CA395986054 | SLC12A3 | c.1279T>A (p.Phe427Ile) c.1276T>A (p.Phe426Ile) | |
16 | g.56879171T>C | CA395986057 | SLC12A3 | c.1279T>C (p.Phe427Leu) c.1276T>C (p.Phe426Leu) | |
16 | g.56879171T>G | CA395986056 | SLC12A3 | c.1279T>G (p.Phe427Val) c.1276T>G (p.Phe426Val) | |
16 | g.56879172T>A | CA395986060 | SLC12A3 | c.1280T>A (p.Phe427Tyr) c.1277T>A (p.Phe426Tyr) | |
16 | g.56879172T>C | CA395986062 | SLC12A3 | c.1280T>C (p.Phe427Ser) c.1277T>C (p.Phe426Ser) | gnomAD v4 |
16 | g.56879172T>G | CA395986066 | SLC12A3 | c.1280T>G (p.Phe427Cys) c.1277T>G (p.Phe426Cys) | |
16 | g.56879173C>A | CA395986069 | SLC12A3 | c.1281C>A (p.Phe427Leu) c.1278C>A (p.Phe426Leu) | |
16 | g.56879173C= | CA2224353769 | SLC12A3 | c.1281C= (p.Phe427=) c.1278C= (p.Phe426=) | |
16 | g.56879173C>G | CA395986071 | SLC12A3 | c.1281C>G (p.Phe427Leu) c.1278C>G (p.Phe426Leu) | |
16 | g.56879173C>T | CA495603733 | SLC12A3 | c.1281C>T (p.Phe427=) c.1278C>T (p.Phe426=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.56879174A>C | CA395986074 | SLC12A3 | c.1282A>C (p.Thr428Pro) c.1279A>C (p.Thr427Pro) | |
16 | g.56879174A>G | CA395986077 | SLC12A3 | c.1282A>G (p.Thr428Ala) c.1279A>G (p.Thr427Ala) | |
16 | g.56879174A>T | CA395986079 | SLC12A3 | c.1282A>T (p.Thr428Ser) c.1279A>T (p.Thr427Ser) | |
16 | g.56879175C>A | CA395986084 | SLC12A3 | c.1283C>A (p.Thr428Asn) c.1280C>A (p.Thr427Asn) | gnomAD v4 |
16 | g.56879175C>G | CA395986087 | SLC12A3 | c.1283C>G (p.Thr428Ser) c.1280C>G (p.Thr427Ser) | |
16 | g.56879175C>T | CA395986089 | SLC12A3 | c.1283C>T (p.Thr428Ile) c.1280C>T (p.Thr427Ile) | gnomAD v4 |
16 | g.56879176C>A | CA495603734 | SLC12A3 | c.1284C>A (p.Thr428=) c.1281C>A (p.Thr427=) | |
16 | g.56879176C= | CA2224353770 | SLC12A3 | c.1284C= (p.Thr428=) c.1281C= (p.Thr427=) | |
16 | g.56879176C>G | CA495603735 | SLC12A3 | c.1284C>G (p.Thr428=) c.1281C>G (p.Thr427=) | |
16 | g.56879176C>T | CA8069411 | SLC12A3 | c.1284C>T (p.Thr428=) c.1281C>T (p.Thr427=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879177G>A | CA281501246 | SLC12A3 | c.1285G>A (p.Glu429Lys) c.1282G>A (p.Glu428Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
16 | g.56879177G>C | CA8069412 | SLC12A3 | c.1285G>C (p.Glu429Gln) c.1282G>C (p.Glu428Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879177G= | CA2224353771 | SLC12A3 | c.1285G= (p.Glu429=) c.1282G= (p.Glu428=) | |
16 | g.56879177G>T | CA395986100 | SLC12A3 | c.1285G>T (p.Glu429Ter) c.1282G>T (p.Glu428Ter) | |
16 | g.56879178A>C | CA395986105 | SLC12A3 | c.1286A>C (p.Glu429Ala) c.1283A>C (p.Glu428Ala) | |
16 | g.56879178A>G | CA395986108 | SLC12A3 | c.1286A>G (p.Glu429Gly) c.1283A>G (p.Glu428Gly) | |
16 | g.56879178A>T | CA395986111 | SLC12A3 | c.1286A>T (p.Glu429Val) c.1283A>T (p.Glu428Val) | |
16 | g.56879178_56879179insCT | CA2569190443 | SLC12A3 | c.1286_1287insCT (p.Glu429AspfsTer20) c.1283_1284insCT (p.Glu428AspfsTer20) | |
16 | g.56879179G>A | CA8069413 | SLC12A3 | c.1287G>A (p.Glu429=) c.1284G>A (p.Glu428=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
16 | g.56879179G>C | CA395986115 | SLC12A3 | c.1287G>C (p.Glu429Asp) c.1284G>C (p.Glu428Asp) | |
16 | g.56879179G= | CA2224353772 | SLC12A3 | c.1287G= (p.Glu429=) c.1284G= (p.Glu428=) | |
16 | g.56879179G>T | CA395986117 | SLC12A3 | c.1287G>T (p.Glu429Asp) c.1284G>T (p.Glu428Asp) | |
16 | g.56879179_56879188del | CA2695223431 | SLC12A3 | c.1287_1296del (p.Glu429AspfsTer16) c.1284_1293del (p.Glu428AspfsTer16) | |
16 | g.56879180T>A | CA395986121 | SLC12A3 | c.1288T>A (p.Cys430Ser) c.1285T>A (p.Cys429Ser) | ClinVar gnomAD v4 |
16 | g.56879180T>C | CA395986123 | SLC12A3 | c.1288T>C (p.Cys430Arg) c.1285T>C (p.Cys429Arg) | |
16 | g.56879180T>G | CA395986127 | SLC12A3 | c.1288T>G (p.Cys430Gly) c.1285T>G (p.Cys429Gly) | ClinVar dbSNP |
16 | g.56879181G>A | CA395986134 | SLC12A3 | c.1289G>A (p.Cys430Tyr) c.1286G>A (p.Cys429Tyr) | dbSNP gnomAD v4 |
16 | g.56879181G>C | CA395986137 | SLC12A3 | c.1289G>C (p.Cys430Ser) c.1286G>C (p.Cys429Ser) | |
16 | g.56879181G= | CA2224353773 | SLC12A3 | c.1289G= (p.Cys430=) c.1286G= (p.Cys429=) | |
16 | g.56879181G>T | CA395986132 | SLC12A3 | c.1289G>T (p.Cys430Phe) c.1286G>T (p.Cys429Phe) |