| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387348G>A | CA473515470 | KCNJ11 | c.483C>T (p.Ser161=) c.744C>T (p.Ser248=) n.902C>T | |
| 11 | g.17387348G>C | CA379771065 | KCNJ11 | c.483C>G (p.Ser161Arg) c.744C>G (p.Ser248Arg) n.902C>G | |
| 11 | g.17387348G>T | CA379771068 | KCNJ11 | c.483C>A (p.Ser161Arg) c.744C>A (p.Ser248Arg) n.902C>A | |
| 11 | g.17387349C>A | CA379771076 | KCNJ11 | c.482G>T (p.Ser161Ile) c.743G>T (p.Ser248Ile) n.901G>T | |
| 11 | g.17387349C= | CA1955119225 | KCNJ11 | c.482G= (p.Ser161=) c.743G= (p.Ser248=) n.901G= | dbSNP |
| 11 | g.17387349C>G | CA379771077 | KCNJ11 | c.482G>C (p.Ser161Thr) c.743G>C (p.Ser248Thr) n.901G>C | |
| 11 | g.17387349C>T | CA379771073 | KCNJ11 | c.482G>A (p.Ser161Asn) c.743G>A (p.Ser248Asn) n.901G>A | ClinVar dbSNP |
| 11 | g.17387350T>A | CA379771081 | KCNJ11 | c.481A>T (p.Ser161Cys) c.742A>T (p.Ser248Cys) n.900A>T | |
| 11 | g.17387350T>C | CA379771084 | KCNJ11 | c.481A>G (p.Ser161Gly) c.742A>G (p.Ser248Gly) n.900A>G | |
| 11 | g.17387350T>G | CA379771087 | KCNJ11 | c.481A>C (p.Ser161Arg) c.742A>C (p.Ser248Arg) n.900A>C | |
| 11 | g.17387351G>A | CA10630458 | KCNJ11 | c.480C>T (p.Asn160=) c.741C>T (p.Asn247=) n.899C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387351G>C | CA379771093 | KCNJ11 | c.480C>G (p.Asn160Lys) c.741C>G (p.Asn247Lys) n.899C>G | |
| 11 | g.17387351G= | CA1955119226 | KCNJ11 | c.480C= (p.Asn160=) c.741C= (p.Asn247=) n.899C= | dbSNP |
| 11 | g.17387351G>T | CA379771096 | KCNJ11 | c.480C>A (p.Asn160Lys) c.741C>A (p.Asn247Lys) n.899C>A | |
| 11 | g.17387352T>A | CA379771105 | KCNJ11 | c.479A>T (p.Asn160Ile) c.740A>T (p.Asn247Ile) n.898A>T | |
| 11 | g.17387352T>C | CA379771099 | KCNJ11 | c.479A>G (p.Asn160Ser) c.740A>G (p.Asn247Ser) n.898A>G | |
| 11 | g.17387352T>G | CA379771101 | KCNJ11 | c.479A>C (p.Asn160Thr) c.740A>C (p.Asn247Thr) n.898A>C | dbSNP gnomAD v4 |
| 11 | g.17387352T= | CA3189260397 | KCNJ11 | c.479A= (p.Asn160=) c.740A= (p.Asn247=) n.898A= | dbSNP |
| 11 | g.17387353T>A | CA379771109 | KCNJ11 | c.478A>T (p.Asn160Tyr) c.739A>T (p.Asn247Tyr) n.897A>T | |
| 11 | g.17387353T>C | CA379771111 | KCNJ11 | c.478A>G (p.Asn160Asp) c.739A>G (p.Asn247Asp) n.897A>G | |
| 11 | g.17387353T>G | CA379771114 | KCNJ11 | c.478A>C (p.Asn160His) c.739A>C (p.Asn247His) n.897A>C | |
| 11 | g.17387354del | CA3003288871 | KCNJ11 | c.477del (p.Asn160ThrfsTer9) c.738del (p.Asn247ThrfsTer9) n.896del | |
| 11 | g.17387354G>A | CA473515473 | KCNJ11 | c.477C>T (p.Gly159=) c.738C>T (p.Gly246=) n.896C>T | |
| 11 | g.17387354G>C | CA473515474 | KCNJ11 | c.477C>G (p.Gly159=) c.738C>G (p.Gly246=) n.896C>G | |
| 11 | g.17387354G>T | CA473515475 | KCNJ11 | c.477C>A (p.Gly159=) c.738C>A (p.Gly246=) n.896C>A | |
| 11 | g.17387355C>A | CA379771117 | KCNJ11 | c.476G>T (p.Gly159Val) c.737G>T (p.Gly246Val) n.895G>T | |
| 11 | g.17387355C>G | CA379771120 | KCNJ11 | c.476G>C (p.Gly159Ala) c.737G>C (p.Gly246Ala) n.895G>C | |
| 11 | g.17387355C>T | CA379771123 | KCNJ11 | c.476G>A (p.Gly159Asp) c.737G>A (p.Gly246Asp) n.895G>A | |
| 11 | g.17387356C>A | CA379771126 | KCNJ11 | c.475G>T (p.Gly159Cys) c.736G>T (p.Gly246Cys) n.894G>T | |
| 11 | g.17387356C= | CA1955119227 | KCNJ11 | c.475G= (p.Gly159=) c.736G= (p.Gly246=) n.894G= | dbSNP |
| 11 | g.17387356C>G | CA379771133 | KCNJ11 | c.475G>C (p.Gly159Arg) c.736G>C (p.Gly246Arg) n.894G>C | |
| 11 | g.17387356C>T | CA218399632 | KCNJ11 | c.475G>A (p.Gly159Ser) c.736G>A (p.Gly246Ser) n.894G>A | ClinVar dbSNP |
| 11 | g.17387357A>C | CA473515479 | KCNJ11 | c.474T>G (p.Gly158=) c.735T>G (p.Gly245=) n.893T>G | |
| 11 | g.17387357A>G | CA473515478 | KCNJ11 | c.474T>C (p.Gly158=) c.735T>C (p.Gly245=) n.893T>C | |
| 11 | g.17387357A>T | CA473515477 | KCNJ11 | c.474T>A (p.Gly158=) c.735T>A (p.Gly245=) n.893T>A | |
| 11 | g.17387358C>A | CA379771135 | KCNJ11 | c.473G>T (p.Gly158Val) c.734G>T (p.Gly245Val) n.892G>T | |
| 11 | g.17387358C= | CA1955119228 | KCNJ11 | c.473G= (p.Gly158=) c.734G= (p.Gly245=) n.892G= | dbSNP |
| 11 | g.17387358C>G | CA379771137 | KCNJ11 | c.473G>C (p.Gly158Ala) c.734G>C (p.Gly245Ala) n.892G>C | |
| 11 | g.17387358C>T | CA379771140 | KCNJ11 | c.473G>A (p.Gly158Asp) c.734G>A (p.Gly245Asp) n.892G>A | dbSNP gnomAD v4 |
| 11 | g.17387360dup | CA2840305413 | KCNJ11 | c.473dup (p.Gly159TrpfsTer17) c.734dup (p.Gly246TrpfsTer17) n.892dup | |
| 11 | g.17387359C>A | CA5902256 | KCNJ11 | c.472G>T (p.Gly158Cys) c.733G>T (p.Gly245Cys) n.891G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387359C= | CA1955119229 | KCNJ11 | c.472G= (p.Gly158=) c.733G= (p.Gly245=) n.891G= | dbSNP |
| 11 | g.17387359C>G | CA379771145 | KCNJ11 | c.472G>C (p.Gly158Arg) c.733G>C (p.Gly245Arg) n.891G>C | |
| 11 | g.17387359C>T | CA379771147 | KCNJ11 | c.472G>A (p.Gly158Ser) c.733G>A (p.Gly245Ser) n.891G>A | dbSNP gnomAD v4 |
| 11 | g.17387359_17387360insACCAGGACCTCGAGAT | CA2525018566 | KCNJ11 | c.471_472insATCTCGAGGTCCTGGT (p.Gly158IlefsTer23) c.732_733insATCTCGAGGTCCTGGT (p.Gly245IlefsTer23) n.890_891insATCTCGAGGTCCTGGT | |
| 11 | g.17387360C>A | CA473515481 | KCNJ11 | c.471G>T (p.Val157=) c.732G>T (p.Val244=) n.890G>T | dbSNP |
| 11 | g.17387360C= | CA1955119230 | KCNJ11 | c.471G= (p.Val157=) c.732G= (p.Val244=) n.890G= | dbSNP |
| 11 | g.17387360C>G | CA473515482 | KCNJ11 | c.471G>C (p.Val157=) c.732G>C (p.Val244=) n.890G>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387360C>T | CA473515483 | KCNJ11 | c.471G>A (p.Val157=) c.732G>A (p.Val244=) n.890G>A | dbSNP gnomAD v4 |
| 11 | g.17387361A>C | CA379771151 | KCNJ11 | c.470T>G (p.Val157Gly) c.731T>G (p.Val244Gly) n.889T>G |