Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
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 | |
11 | g.17387599C>T | CA5902286 | KCNJ11 | c.232G>A (p.Gly78Ser) c.493G>A (p.Gly165Ser) n.651G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.17387600A>C | CA473515521 | KCNJ11 | c.231T>G (p.Leu77=) c.492T>G (p.Leu164=) n.650T>G | |
11 | g.17387600A>G | CA473515522 | KCNJ11 | c.231T>C (p.Leu77=) c.492T>C (p.Leu164=) n.650T>C | |
11 | g.17387600A>T | CA473515523 | KCNJ11 | c.231T>A (p.Leu77=) c.492T>A (p.Leu164=) n.650T>A | |
11 | g.17387601A>C | CA379773252 | KCNJ11 | c.230T>G (p.Leu77Arg) c.491T>G (p.Leu164Arg) n.649T>G | |
11 | g.17387601A>G | CA379773258 | KCNJ11 | c.230T>C (p.Leu77Pro) c.491T>C (p.Leu164Pro) n.649T>C | |
11 | g.17387601A>T | CA379773259 | KCNJ11 | c.230T>A (p.Leu77His) c.491T>A (p.Leu164His) n.649T>A | |
11 | g.17387602G>A | CA379773262 | KCNJ11 | c.229C>T (p.Leu77Phe) c.490C>T (p.Leu164Phe) n.648C>T | ClinVar dbSNP |
11 | g.17387602G>C | CA379773264 | KCNJ11 | c.229C>G (p.Leu77Val) c.490C>G (p.Leu164Val) n.648C>G | |
11 | g.17387602G= | CA1955119327 | KCNJ11 | c.229C= (p.Leu77=) c.490C= (p.Leu164=) n.648C= | |
11 | g.17387602G>T | CA379773266 | KCNJ11 | c.229C>A (p.Leu77Ile) c.490C>A (p.Leu164Ile) n.648C>A | ClinVar dbSNP |
11 | g.17387603C>A | CA379773269 | KCNJ11 | c.228G>T (p.Met76Ile) c.489G>T (p.Met163Ile) n.647G>T | |
11 | g.17387603C>G | CA379773278 | KCNJ11 | c.228G>C (p.Met76Ile) c.489G>C (p.Met163Ile) n.647G>C | |
11 | g.17387603C>T | CA379773281 | KCNJ11 | c.228G>A (p.Met76Ile) c.489G>A (p.Met163Ile) n.647G>A | |
11 | g.17387604A>C | CA379773284 | KCNJ11 | c.227T>G (p.Met76Arg) c.488T>G (p.Met163Arg) n.646T>G | |
11 | g.17387604A>G | CA379773287 | KCNJ11 | c.227T>C (p.Met76Thr) c.488T>C (p.Met163Thr) n.646T>C | ClinVar dbSNP |
11 | g.17387604A>T | CA379773289 | KCNJ11 | c.227T>A (p.Met76Lys) c.488T>A (p.Met163Lys) n.646T>A | |
11 | g.17387605T>A | CA379773293 | KCNJ11 | c.226A>T (p.Met76Leu) c.487A>T (p.Met163Leu) n.645A>T | |
11 | g.17387605T>C | CA379773295 | KCNJ11 | c.226A>G (p.Met76Val) c.487A>G (p.Met163Val) n.645A>G | |
11 | g.17387605T>G | CA379773291 | KCNJ11 | c.226A>C (p.Met76Leu) c.487A>C (p.Met163Leu) n.645A>C | |
11 | g.17387606G>A | CA473515524 | KCNJ11 | c.225C>T (p.Ile75=) c.486C>T (p.Ile162=) n.644C>T | |
11 | g.17387606G>C | CA379773298 | KCNJ11 | c.225C>G (p.Ile75Met) c.486C>G (p.Ile162Met) n.644C>G | |
11 | g.17387606G>T | CA473515525 | KCNJ11 | c.225C>A (p.Ile75=) c.486C>A (p.Ile162=) n.644C>A | |
11 | g.17387607A>C | CA379773301 | KCNJ11 | c.224T>G (p.Ile75Ser) c.485T>G (p.Ile162Ser) n.643T>G |