| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387306A>C | CA379770746 | KCNJ11 | c.525T>G (p.Asp175Glu) c.786T>G (p.Asp262Glu) n.944T>G | |
| 11 | g.17387306A>G | CA473515418 | KCNJ11 | c.525T>C (p.Asp175=) c.786T>C (p.Asp262=) n.944T>C | |
| 11 | g.17387306A>T | CA379770749 | KCNJ11 | c.525T>A (p.Asp175Glu) c.786T>A (p.Asp262Glu) n.944T>A | |
| 11 | g.17387307T>A | CA379770753 | KCNJ11 | c.524A>T (p.Asp175Val) c.785A>T (p.Asp262Val) n.943A>T | |
| 11 | g.17387307T>C | CA379770758 | KCNJ11 | c.524A>G (p.Asp175Gly) c.785A>G (p.Asp262Gly) n.943A>G | |
| 11 | g.17387307T>G | CA379770760 | KCNJ11 | c.524A>C (p.Asp175Ala) c.785A>C (p.Asp262Ala) n.943A>C | |
| 11 | g.17387308C>A | CA379770762 | KCNJ11 | c.523G>T (p.Asp175Tyr) c.784G>T (p.Asp262Tyr) n.942G>T | |
| 11 | g.17387308C= | CA1955119205 | KCNJ11 | c.523G= (p.Asp175=) c.784G= (p.Asp262=) n.942G= | |
| 11 | g.17387308C>G | CA379770764 | KCNJ11 | c.523G>C (p.Asp175His) c.784G>C (p.Asp262His) n.942G>C | |
| 11 | g.17387308C>T | CA379770767 | KCNJ11 | c.523G>A (p.Asp175Asn) c.784G>A (p.Asp262Asn) n.942G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387309A>C | CA379770770 | KCNJ11 | c.522T>G (p.Ile174Met) c.783T>G (p.Ile261Met) n.941T>G | |
| 11 | g.17387309A>G | CA473515420 | KCNJ11 | c.522T>C (p.Ile174=) c.783T>C (p.Ile261=) n.941T>C | dbSNP |
| 11 | g.17387309A>T | CA473515419 | KCNJ11 | c.522T>A (p.Ile174=) c.783T>A (p.Ile261=) n.941T>A | |
| 11 | g.17387310A= | CA1955119206 | KCNJ11 | c.521T= (p.Ile174=) c.782T= (p.Ile261=) n.940T= | |
| 11 | g.17387310A>C | CA379770775 | KCNJ11 | c.521T>G (p.Ile174Ser) c.782T>G (p.Ile261Ser) n.940T>G | |
| 11 | g.17387310A>G | CA379770793 | KCNJ11 | c.521T>C (p.Ile174Thr) c.782T>C (p.Ile261Thr) n.940T>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387310A>T | CA379770779 | KCNJ11 | c.521T>A (p.Ile174Asn) c.782T>A (p.Ile261Asn) n.940T>A | |
| 11 | g.17387311T>A | CA379770795 | KCNJ11 | c.520A>T (p.Ile174Phe) c.781A>T (p.Ile261Phe) n.939A>T | |
| 11 | g.17387311T>C | CA379770797 | KCNJ11 | c.520A>G (p.Ile174Val) c.781A>G (p.Ile261Val) n.939A>G | |
| 11 | g.17387311T>G | CA379770800 | KCNJ11 | c.520A>C (p.Ile174Leu) c.781A>C (p.Ile261Leu) n.939A>C | |
| 11 | g.17387312G>A | CA5902248 | KCNJ11 | c.519C>T (p.Val173=) c.780C>T (p.Val260=) n.938C>T | dbSNP ExAC gnomAD v2 |
| 11 | g.17387312G>C | CA473515423 | KCNJ11 | c.519C>G (p.Val173=) c.780C>G (p.Val260=) n.938C>G | |
| 11 | g.17387312G= | CA1955119207 | KCNJ11 | c.519C= (p.Val173=) c.780C= (p.Val260=) n.938C= | |
| 11 | g.17387312G>T | CA473515422 | KCNJ11 | c.519C>A (p.Val173=) c.780C>A (p.Val260=) n.938C>A | |
| 11 | g.17387312dup | CA3003288800 | KCNJ11 | c.519dup (p.Ile174HisfsTer2) c.780dup (p.Ile261HisfsTer2) n.938dup | |
| 11 | g.17387313A>C | CA379770807 | KCNJ11 | c.518T>G (p.Val173Gly) c.779T>G (p.Val260Gly) n.937T>G | |
| 11 | g.17387313A>G | CA379770810 | KCNJ11 | c.518T>C (p.Val173Ala) c.779T>C (p.Val260Ala) n.937T>C | |
| 11 | g.17387313A>T | CA379770813 | KCNJ11 | c.518T>A (p.Val173Asp) c.779T>A (p.Val260Asp) n.937T>A | |
| 11 | g.17387314C>A | CA379770815 | KCNJ11 | c.517G>T (p.Val173Phe) c.778G>T (p.Val260Phe) n.936G>T | |
| 11 | g.17387314C= | CA1955119208 | KCNJ11 | c.517G= (p.Val173=) c.778G= (p.Val260=) n.936G= | |
| 11 | g.17387314C>G | CA379770818 | KCNJ11 | c.517G>C (p.Val173Leu) c.778G>C (p.Val260Leu) n.936G>C | |
| 11 | g.17387314C>T | CA218399602 | KCNJ11 | c.517G>A (p.Val173Ile) c.778G>A (p.Val260Ile) n.936G>A | ClinVar dbSNP |
| 11 | g.17387315A>C | CA379770824 | KCNJ11 | c.516T>G (p.His172Gln) c.777T>G (p.His259Gln) n.935T>G | |
| 11 | g.17387315A>G | CA473515425 | KCNJ11 | c.516T>C (p.His172=) c.777T>C (p.His259=) n.935T>C | gnomAD v4 |
| 11 | g.17387315A>T | CA379770825 | KCNJ11 | c.516T>A (p.His172Gln) c.777T>A (p.His259Gln) n.935T>A | |
| 11 | g.17387316T>A | CA379770834 | KCNJ11 | c.515A>T (p.His172Leu) c.776A>T (p.His259Leu) n.934A>T | |
| 11 | g.17387316T>C | CA254522 | KCNJ11 | c.515A>G (p.His172Arg) c.776A>G (p.His259Arg) n.934A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387316T>G | CA379770830 | KCNJ11 | c.515A>C (p.His172Pro) c.776A>C (p.His259Pro) n.934A>C | |
| 11 | g.17387316T= | CA1955119209 | KCNJ11 | c.515A= (p.His172=) c.776A= (p.His259=) n.934A= | |
| 11 | g.17387317G>A | CA379770836 | KCNJ11 | c.514C>T (p.His172Tyr) c.775C>T (p.His259Tyr) n.933C>T | gnomAD v4 |
| 11 | g.17387317G>C | CA379770839 | KCNJ11 | c.514C>G (p.His172Asp) c.775C>G (p.His259Asp) n.933C>G | |
| 11 | g.17387317G>T | CA379770842 | KCNJ11 | c.514C>A (p.His172Asn) c.775C>A (p.His259Asn) n.933C>A | ClinVar |
| 11 | g.17387318del | CA2695213387 | KCNJ11 | c.514del (p.His172MetfsTer?) c.775del (p.His259MetfsTer?) n.933del | |
| 11 | g.17387318G>A | CA473515429 | KCNJ11 | c.513C>T (p.Tyr171=) c.774C>T (p.Tyr258=) n.932C>T | |
| 11 | g.17387318G>C | CA379770845 | KCNJ11 | c.513C>G (p.Tyr171Ter) c.774C>G (p.Tyr258Ter) n.932C>G | |
| 11 | g.17387318G= | CA1955119210 | KCNJ11 | c.513C= (p.Tyr171=) c.774C= (p.Tyr258=) n.932C= | |
| 11 | g.17387318G>T | CA379770847 | KCNJ11 | c.513C>A (p.Tyr171Ter) c.774C>A (p.Tyr258Ter) n.932C>A | ClinVar dbSNP |
| 11 | g.17387319T>A | CA379770851 | KCNJ11 | c.512A>T (p.Tyr171Phe) c.773A>T (p.Tyr258Phe) n.931A>T | |
| 11 | g.17387319T>C | CA5902249 | KCNJ11 | c.512A>G (p.Tyr171Cys) c.773A>G (p.Tyr258Cys) n.931A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387319T>G | CA379770855 | KCNJ11 | c.512A>C (p.Tyr171Ser) c.773A>C (p.Tyr258Ser) n.931A>C |