Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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 | |
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 | ClinVar |
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 | |
11 | g.17387607A>G | CA379773303 | KCNJ11 | c.224T>C (p.Ile75Thr) c.485T>C (p.Ile162Thr) n.643T>C | |
11 | g.17387607A>T | CA379773305 | KCNJ11 | c.224T>A (p.Ile75Asn) c.485T>A (p.Ile162Asn) n.643T>A | |
11 | g.17387608T>A | CA379773310 | KCNJ11 | c.223A>T (p.Ile75Phe) c.484A>T (p.Ile162Phe) n.642A>T | |
11 | g.17387608T>C | CA379773312 | KCNJ11 | c.223A>G (p.Ile75Val) c.484A>G (p.Ile162Val) n.642A>G | |
11 | g.17387608T>G | CA379773315 | KCNJ11 | c.223A>C (p.Ile75Leu) c.484A>C (p.Ile162Leu) n.642A>C | |
11 | g.17387609G>A | CA473515526 | KCNJ11 | c.222C>T (p.Ala74=) c.483C>T (p.Ala161=) n.641C>T | |
11 | g.17387609G>C | CA473515527 | KCNJ11 | c.222C>G (p.Ala74=) c.483C>G (p.Ala161=) n.641C>G | |
11 | g.17387609G>T | CA473515528 | KCNJ11 | c.222C>A (p.Ala74=) c.483C>A (p.Ala161=) n.641C>A | |
11 | g.17387610G>A | CA379773326 | KCNJ11 | c.221C>T (p.Ala74Val) c.482C>T (p.Ala161Val) n.640C>T | gnomAD v4 |
11 | g.17387610G>C | CA379773330 | KCNJ11 | c.221C>G (p.Ala74Gly) c.482C>G (p.Ala161Gly) n.640C>G | |
11 | g.17387610G>T | CA379773332 | KCNJ11 | c.221C>A (p.Ala74Asp) c.482C>A (p.Ala161Asp) n.640C>A | |
11 | g.17387611C>A | CA379773337 | KCNJ11 | c.220G>T (p.Ala74Ser) c.481G>T (p.Ala161Ser) n.639G>T | |
11 | g.17387611C= | CA1955119328 | KCNJ11 | c.220G= (p.Ala74=) c.481G= (p.Ala161=) n.639G= | |
11 | g.17387611C>G | CA379773338 | KCNJ11 | c.220G>C (p.Ala74Pro) c.481G>C (p.Ala161Pro) n.639G>C | |
11 | g.17387611C>T | CA379773339 | KCNJ11 | c.220G>A (p.Ala74Thr) c.481G>A (p.Ala161Thr) n.639G>A | ClinVar dbSNP gnomAD v2 |
11 | g.17387612G>A | CA5902287 | KCNJ11 | c.219C>T (p.Asn73=) c.480C>T (p.Asn160=) n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.17387612G>C | CA379773344 | KCNJ11 | c.219C>G (p.Asn73Lys) c.480C>G (p.Asn160Lys) n.638C>G | |
11 | g.17387612G= | CA1955119329 | KCNJ11 | c.219C= (p.Asn73=) c.480C= (p.Asn160=) n.638C= | |
11 | g.17387612G>T | CA379773340 | KCNJ11 | c.219C>A (p.Asn73Lys) c.480C>A (p.Asn160Lys) n.638C>A | |
11 | g.17387613T>A | CA379773346 | KCNJ11 | c.218A>T (p.Asn73Ile) c.479A>T (p.Asn160Ile) n.637A>T | |
11 | g.17387613T>C | CA379773347 | KCNJ11 | c.218A>G (p.Asn73Ser) c.479A>G (p.Asn160Ser) n.637A>G | |
11 | g.17387613T>G | CA379773349 | KCNJ11 | c.218A>C (p.Asn73Thr) c.479A>C (p.Asn160Thr) n.637A>C |