| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387300G>A | CA473515414 | KCNJ11 | c.531C>T (p.Asn177=) c.792C>T (p.Asn264=) n.950C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387300G>C | CA379770704 | KCNJ11 | c.531C>G (p.Asn177Lys) c.792C>G (p.Asn264Lys) n.950C>G | gnomAD v4 |
| 11 | g.17387300G= | CA1955119203 | KCNJ11 | c.531C= (p.Asn177=) c.792C= (p.Asn264=) n.950C= | |
| 11 | g.17387300G>T | CA379770713 | KCNJ11 | c.531C>A (p.Asn177Lys) c.792C>A (p.Asn264Lys) n.950C>A | |
| 11 | g.17387301T>A | CA379770716 | KCNJ11 | c.530A>T (p.Asn177Ile) c.791A>T (p.Asn264Ile) n.949A>T | |
| 11 | g.17387301T>C | CA379770717 | KCNJ11 | c.530A>G (p.Asn177Ser) c.791A>G (p.Asn264Ser) n.949A>G | |
| 11 | g.17387301T>G | CA379770718 | KCNJ11 | c.530A>C (p.Asn177Thr) c.791A>C (p.Asn264Thr) n.949A>C | |
| 11 | g.17387302T>A | CA379770721 | KCNJ11 | c.529A>T (p.Asn177Tyr) c.790A>T (p.Asn264Tyr) n.948A>T | |
| 11 | g.17387302T>C | CA379770723 | KCNJ11 | c.529A>G (p.Asn177Asp) c.790A>G (p.Asn264Asp) n.948A>G | |
| 11 | g.17387302T>G | CA379770726 | KCNJ11 | c.529A>C (p.Asn177His) c.790A>C (p.Asn264His) n.948A>C | |
| 11 | g.17387303G>A | CA473515415 | KCNJ11 | c.528C>T (p.Ala176=) c.789C>T (p.Ala263=) n.947C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387303G>C | CA473515416 | KCNJ11 | c.528C>G (p.Ala176=) c.789C>G (p.Ala263=) n.947C>G | |
| 11 | g.17387303G>T | CA473515417 | KCNJ11 | c.528C>A (p.Ala176=) c.789C>A (p.Ala263=) n.947C>A | |
| 11 | g.17387304G>A | CA379770731 | KCNJ11 | c.527C>T (p.Ala176Val) c.788C>T (p.Ala263Val) n.946C>T | |
| 11 | g.17387304G>C | CA379770732 | KCNJ11 | c.527C>G (p.Ala176Gly) c.788C>G (p.Ala263Gly) n.946C>G | |
| 11 | g.17387304G= | CA1955119204 | KCNJ11 | c.527C= (p.Ala176=) c.788C= (p.Ala263=) n.946C= | |
| 11 | g.17387304G>T | CA5902247 | KCNJ11 | c.527C>A (p.Ala176Asp) c.788C>A (p.Ala263Asp) n.946C>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387305C>A | CA379770734 | KCNJ11 | c.526G>T (p.Ala176Ser) c.787G>T (p.Ala263Ser) n.945G>T | |
| 11 | g.17387305C>G | CA379770736 | KCNJ11 | c.526G>C (p.Ala176Pro) c.787G>C (p.Ala263Pro) n.945G>C | |
| 11 | g.17387305C>T | CA379770738 | KCNJ11 | c.526G>A (p.Ala176Thr) c.787G>A (p.Ala263Thr) n.945G>A | |
| 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 | 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.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 |