Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.17387585C>A | CA379773163 | KCNJ11 | c.246G>T (p.Met82Ile) c.507G>T (p.Met169Ile) n.665G>T | |
11 | g.17387585C>G | CA379773164 | KCNJ11 | c.246G>C (p.Met82Ile) c.507G>C (p.Met169Ile) n.665G>C | |
11 | g.17387585C>T | CA379773165 | KCNJ11 | c.246G>A (p.Met82Ile) c.507G>A (p.Met169Ile) n.665G>A | |
11 | g.17387586A>C | CA379773171 | KCNJ11 | c.245T>G (p.Met82Arg) c.506T>G (p.Met169Arg) n.664T>G | |
11 | g.17387586A>G | CA379773168 | KCNJ11 | c.245T>C (p.Met82Thr) c.506T>C (p.Met169Thr) n.664T>C | |
11 | g.17387586A>T | CA379773167 | KCNJ11 | c.245T>A (p.Met82Lys) c.506T>A (p.Met169Lys) n.664T>A | |
11 | g.17387587T>A | CA379773174 | KCNJ11 | c.244A>T (p.Met82Leu) c.505A>T (p.Met169Leu) n.663A>T | |
11 | g.17387587T>C | CA379773182 | KCNJ11 | c.244A>G (p.Met82Val) c.505A>G (p.Met169Val) n.663A>G | gnomAD v4 |
11 | g.17387587T>G | CA379773183 | KCNJ11 | c.244A>C (p.Met82Leu) c.505A>C (p.Met169Leu) n.663A>C | |
11 | g.17387588G>A | CA473515514 | KCNJ11 | c.243C>T (p.Phe81=) c.504C>T (p.Phe168=) n.662C>T | |
11 | g.17387588G>C | CA379773184 | KCNJ11 | c.243C>G (p.Phe81Leu) c.504C>G (p.Phe168Leu) n.662C>G | |
11 | g.17387588G>T | CA379773185 | KCNJ11 | c.243C>A (p.Phe81Leu) c.504C>A (p.Phe168Leu) n.662C>A | |
11 | g.17387589A>C | CA379773190 | KCNJ11 | c.242T>G (p.Phe81Cys) c.503T>G (p.Phe168Cys) n.661T>G | |
11 | g.17387589A>G | CA379773192 | KCNJ11 | c.242T>C (p.Phe81Ser) c.503T>C (p.Phe168Ser) n.661T>C | |
11 | g.17387589A>T | CA379773194 | KCNJ11 | c.242T>A (p.Phe81Tyr) c.503T>A (p.Phe168Tyr) n.661T>A | |
11 | g.17387590A>C | CA379773198 | KCNJ11 | c.241T>G (p.Phe81Val) c.502T>G (p.Phe168Val) n.660T>G | |
11 | g.17387590A>G | CA379773200 | KCNJ11 | c.241T>C (p.Phe81Leu) c.502T>C (p.Phe168Leu) n.660T>C | |
11 | g.17387590A>T | CA379773202 | KCNJ11 | c.241T>A (p.Phe81Ile) c.502T>A (p.Phe168Ile) n.660T>A | |
11 | g.17387591G>A | CA473515515 | KCNJ11 | c.240C>T (p.Ile80=) c.501C>T (p.Ile167=) n.659C>T | |
11 | g.17387591G>C | CA379773205 | KCNJ11 | c.240C>G (p.Ile80Met) c.501C>G (p.Ile167Met) n.659C>G | COSMIC |
11 | g.17387591G>T | CA473515516 | KCNJ11 | c.240C>A (p.Ile80=) c.501C>A (p.Ile167=) n.659C>A | |
11 | g.17387592A>C | CA379773213 | KCNJ11 | c.239T>G (p.Ile80Ser) c.500T>G (p.Ile167Ser) n.658T>G | |
11 | g.17387592A>G | CA379773211 | KCNJ11 | c.239T>C (p.Ile80Thr) c.500T>C (p.Ile167Thr) n.658T>C | |
11 | g.17387592A>T | CA379773210 | KCNJ11 | c.239T>A (p.Ile80Asn) c.500T>A (p.Ile167Asn) n.658T>A | gnomAD v4 |
11 | g.17387593T>A | CA379773218 | KCNJ11 | c.238A>T (p.Ile80Phe) c.499A>T (p.Ile167Phe) n.657A>T | |
11 | g.17387593T>C | CA379773217 | KCNJ11 | c.238A>G (p.Ile80Val) c.499A>G (p.Ile167Val) n.657A>G | |
11 | g.17387593T>G | CA119835 | KCNJ11 | c.238A>C (p.Ile80Leu) c.499A>C (p.Ile167Leu) n.657A>C | ClinVar dbSNP |
11 | g.17387593T= | CA1955119322 | KCNJ11 | c.238A= (p.Ile80=) c.499A= (p.Ile167=) n.657A= | |
11 | g.17387594G>A | CA473515517 | KCNJ11 | c.237C>T (p.Cys79=) c.498C>T (p.Cys166=) n.656C>T | |
11 | g.17387594G>C | CA172328 | KCNJ11 | c.237C>G (p.Cys79Trp) c.498C>G (p.Cys166Trp) n.656C>G | ClinVar dbSNP |
11 | g.17387594G= | CA1955119323 | KCNJ11 | c.237C= (p.Cys79=) c.498C= (p.Cys166=) n.656C= | |
11 | g.17387594G>T | CA379773220 | KCNJ11 | c.237C>A (p.Cys79Ter) c.498C>A (p.Cys166Ter) n.656C>A | ClinVar dbSNP |
11 | g.17387595C>A | CA119833 | KCNJ11 | c.236G>T (p.Cys79Phe) c.497G>T (p.Cys166Phe) n.655G>T | ClinVar dbSNP |
11 | g.17387595C= | CA1955119324 | KCNJ11 | c.236G= (p.Cys79=) c.497G= (p.Cys166=) n.655G= | |
11 | g.17387595C>G | CA379773227 | KCNJ11 | c.236G>C (p.Cys79Ser) c.497G>C (p.Cys166Ser) n.655G>C | |
11 | g.17387595C>T | CA341720 | KCNJ11 | c.236G>A (p.Cys79Tyr) c.497G>A (p.Cys166Tyr) n.655G>A | ClinVar dbSNP |
11 | g.17387596A>C | CA379773233 | KCNJ11 | c.235T>G (p.Cys79Gly) c.496T>G (p.Cys166Gly) n.654T>G | |
11 | g.17387596A>G | CA379773235 | KCNJ11 | c.235T>C (p.Cys79Arg) c.496T>C (p.Cys166Arg) n.654T>C | |
11 | g.17387596A>T | CA379773238 | KCNJ11 | c.235T>A (p.Cys79Ser) c.496T>A (p.Cys166Ser) n.654T>A | |
11 | g.17387597G>A | CA473515518 | KCNJ11 | c.234C>T (p.Gly78=) c.495C>T (p.Gly165=) n.653C>T | ClinVar dbSNP gnomAD v4 |
11 | g.17387597G>C | CA473515519 | KCNJ11 | c.234C>G (p.Gly78=) c.495C>G (p.Gly165=) n.653C>G | |
11 | g.17387597G>T | CA473515520 | KCNJ11 | c.234C>A (p.Gly78=) c.495C>A (p.Gly165=) n.653C>A | |
11 | g.17387598C>A | CA379773241 | KCNJ11 | c.233G>T (p.Gly78Val) c.494G>T (p.Gly165Val) n.652G>T | |
11 | g.17387598C= | CA1955119325 | KCNJ11 | c.233G= (p.Gly78=) c.494G= (p.Gly165=) n.652G= | |
11 | g.17387598C>G | CA379773242 | KCNJ11 | c.233G>C (p.Gly78Ala) c.494G>C (p.Gly165Ala) n.652G>C | |
11 | g.17387598C>T | CA379773244 | KCNJ11 | c.233G>A (p.Gly78Asp) c.494G>A (p.Gly165Asp) n.652G>A | dbSNP gnomAD v3 gnomAD v4 |
11 | g.17387598_17387601dup | CA2695201084 | KCNJ11 | c.230_233dup (p.Cys79TrpfsTer15) c.491_494dup (p.Cys166TrpfsTer15) n.649_652dup | ClinVar |
11 | g.17387599C>A | CA379773247 | KCNJ11 | c.232G>T (p.Gly78Cys) c.493G>T (p.Gly165Cys) n.651G>T | |
11 | g.17387599C= | CA1955119326 | KCNJ11 | c.232G= (p.Gly78=) c.493G= (p.Gly165=) n.651G= | |
11 | g.17387599C>G | CA379773246 | KCNJ11 | c.232G>C (p.Gly78Arg) c.493G>C (p.Gly165Arg) n.651G>C |