UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387296G>A | CA379770658 | KCNJ11 | c.535C>T (p.Pro179Ser) c.796C>T (p.Pro266Ser) n.954C>T | COSMIC |
| 11 | g.17387296G>C | CA379770657 | KCNJ11 | c.535C>G (p.Pro179Ala) c.796C>G (p.Pro266Ala) n.954C>G | |
| 11 | g.17387296G= | CA1955119201 | KCNJ11 | c.535C= (p.Pro179=) c.796C= (p.Pro266=) n.954C= | |
| 11 | g.17387296G>T | CA379770656 | KCNJ11 | c.535C>A (p.Pro179Thr) c.796C>A (p.Pro266Thr) n.954C>A | dbSNP |
| 11 | g.17387297G>A | CA473515413 | KCNJ11 | c.534C>T (p.Ser178=) c.795C>T (p.Ser265=) n.953C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387297G>C | CA379770659 | KCNJ11 | c.534C>G (p.Ser178Arg) c.795C>G (p.Ser265Arg) n.953C>G | |
| 11 | g.17387297G>T | CA379770662 | KCNJ11 | c.534C>A (p.Ser178Arg) c.795C>A (p.Ser265Arg) n.953C>A | gnomAD v4 |
| 11 | g.17387298C>A | CA379770671 | KCNJ11 | c.533G>T (p.Ser178Ile) c.794G>T (p.Ser265Ile) n.952G>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387298C= | CA1955119202 | KCNJ11 | c.533G= (p.Ser178=) c.794G= (p.Ser265=) n.952G= | |
| 11 | g.17387298C>G | CA379770674 | KCNJ11 | c.533G>C (p.Ser178Thr) c.794G>C (p.Ser265Thr) n.952G>C | |
| 11 | g.17387298C>T | CA379770678 | KCNJ11 | c.533G>A (p.Ser178Asn) c.794G>A (p.Ser265Asn) n.952G>A | |
| 11 | g.17387299T>A | CA379770686 | KCNJ11 | c.532A>T (p.Ser178Cys) c.793A>T (p.Ser265Cys) n.951A>T | |
| 11 | g.17387299T>C | CA379770689 | KCNJ11 | c.532A>G (p.Ser178Gly) c.793A>G (p.Ser265Gly) n.951A>G | |
| 11 | g.17387299T>G | CA379770695 | KCNJ11 | c.532A>C (p.Ser178Arg) c.793A>C (p.Ser265Arg) n.951A>C | |
| 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 | |
| 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 | |
| 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 | |
| 11 | g.17387319T= | CA1955119211 | KCNJ11 | c.512A= (p.Tyr171=) c.773A= (p.Tyr258=) n.931A= | |
| 11 | g.17387320A= | CA1955119212 | KCNJ11 | c.511T= (p.Tyr171=) c.772T= (p.Tyr258=) n.930T= | |
| 11 | g.17387320A>C | CA379770859 | KCNJ11 | c.511T>G (p.Tyr171Asp) c.772T>G (p.Tyr258Asp) n.930T>G | |
| 11 | g.17387320A>G | CA5902250 | KCNJ11 | c.511T>C (p.Tyr171His) c.772T>C (p.Tyr258His) n.930T>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387320A>T | CA379770868 | KCNJ11 | c.511T>A (p.Tyr171Asn) c.772T>A (p.Tyr258Asn) n.930T>A | |
| 11 | g.17387320dup | CA912971887 | KCNJ11 | c.511dup (p.Tyr171LeufsTer5) c.772dup (p.Tyr258LeufsTer5) n.930dup | |
| 11 | g.17387321G>A | CA473515431 | KCNJ11 | c.510C>T (p.Ile170=) c.771C>T (p.Ile257=) n.929C>T | |
| 11 | g.17387321G>C | CA379770871 | KCNJ11 | c.510C>G (p.Ile170Met) c.771C>G (p.Ile257Met) n.929C>G | gnomAD v4 |
| 11 | g.17387321G>T | CA473515434 | KCNJ11 | c.510C>A (p.Ile170=) c.771C>A (p.Ile257=) n.929C>A | |
| 11 | g.17387321_17387327dup | CA658822453 | KCNJ11 | c.504_510dup (p.Tyr171AspfsTer7) c.765_771dup (p.Tyr258AspfsTer7) n.923_929dup | ClinVar dbSNP |
| 11 | g.17387322A>C | CA379770877 | KCNJ11 | c.509T>G (p.Ile170Ser) c.770T>G (p.Ile257Ser) n.928T>G | |
| 11 | g.17387322A>G | CA379770882 | KCNJ11 | c.509T>C (p.Ile170Thr) c.770T>C (p.Ile257Thr) n.928T>C | |
| 11 | g.17387322A>T | CA379770881 | KCNJ11 | c.509T>A (p.Ile170Asn) c.770T>A (p.Ile257Asn) n.928T>A | |
| 11 | g.17387323T>A | CA379770887 | KCNJ11 | c.508A>T (p.Ile170Phe) c.769A>T (p.Ile257Phe) n.927A>T | |
| 11 | g.17387323T>C | CA379770893 | KCNJ11 | c.508A>G (p.Ile170Val) c.769A>G (p.Ile257Val) n.927A>G | gnomAD v4 |
| 11 | g.17387323T>G | CA379770889 | KCNJ11 | c.508A>C (p.Ile170Leu) c.769A>C (p.Ile257Leu) n.927A>C | |
| 11 | g.17387324G>A | CA473515435 | KCNJ11 | c.507C>T (p.Ile169=) c.768C>T (p.Ile256=) n.926C>T | dbSNP |
| 11 | g.17387324G>C | CA379770896 | KCNJ11 | c.507C>G (p.Ile169Met) c.768C>G (p.Ile256Met) n.926C>G | |
| 11 | g.17387324G= | CA1955119213 | KCNJ11 | c.507C= (p.Ile169=) c.768C= (p.Ile256=) n.926C= | |
| 11 | g.17387324G>T | CA473515438 | KCNJ11 | c.507C>A (p.Ile169=) c.768C>A (p.Ile256=) n.926C>A | |
| 11 | g.17387325A>C | CA379770900 | KCNJ11 | c.506T>G (p.Ile169Ser) c.767T>G (p.Ile256Ser) n.925T>G | |
| 11 | g.17387325A>G | CA379770902 | KCNJ11 | c.506T>C (p.Ile169Thr) c.767T>C (p.Ile256Thr) n.925T>C | |
| 11 | g.17387325A>T | CA379770904 | KCNJ11 | c.506T>A (p.Ile169Asn) c.767T>A (p.Ile256Asn) n.925T>A | |
| 11 | g.17387326T>A | CA379770909 | KCNJ11 | c.505A>T (p.Ile169Phe) c.766A>T (p.Ile256Phe) n.924A>T | |
| 11 | g.17387326T>C | CA379770911 | KCNJ11 | c.505A>G (p.Ile169Val) c.766A>G (p.Ile256Val) n.924A>G | |
| 11 | g.17387326T>G | CA379770914 | KCNJ11 | c.505A>C (p.Ile169Leu) c.766A>C (p.Ile256Leu) n.924A>C | |
| 11 | g.17387327C>A | CA473515440 | KCNJ11 | c.504G>T (p.Leu168=) c.765G>T (p.Leu255=) n.923G>T | dbSNP |
| 11 | g.17387327C= | CA1955119214 | KCNJ11 | c.504G= (p.Leu168=) c.765G= (p.Leu255=) n.923G= | |
| 11 | g.17387327C>G | CA473515441 | KCNJ11 | c.504G>C (p.Leu168=) c.765G>C (p.Leu255=) n.923G>C | |
| 11 | g.17387327C>T | CA473515442 | KCNJ11 | c.504G>A (p.Leu168=) c.765G>A (p.Leu255=) n.923G>A | dbSNP gnomAD v2 |
| 11 | g.17387328A>C | CA379770917 | KCNJ11 | c.503T>G (p.Leu168Arg) c.764T>G (p.Leu255Arg) n.922T>G | |
| 11 | g.17387328A>G | CA379770920 | KCNJ11 | c.503T>C (p.Leu168Pro) c.764T>C (p.Leu255Pro) n.922T>C | |
| 11 | g.17387328A>T | CA379770923 | KCNJ11 | c.503T>A (p.Leu168Gln) c.764T>A (p.Leu255Gln) n.922T>A | |
| 11 | g.17387329G>A | CA473515443 | KCNJ11 | c.502C>T (p.Leu168=) c.763C>T (p.Leu255=) n.921C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387329G>C | CA379770924 | KCNJ11 | c.502C>G (p.Leu168Val) c.763C>G (p.Leu255Val) n.921C>G | |
| 11 | g.17387329G= | CA1955119215 | KCNJ11 | c.502C= (p.Leu168=) c.763C= (p.Leu255=) n.921C= | |
| 11 | g.17387329G>T | CA379770927 | KCNJ11 | c.502C>A (p.Leu168Met) c.763C>A (p.Leu255Met) n.921C>A | |
| 11 | g.17387330C>A | CA473515444 | KCNJ11 | c.501G>T (p.Pro167=) c.762G>T (p.Pro254=) n.920G>T | |
| 11 | g.17387330C= | CA1955119216 | KCNJ11 | c.501G= (p.Pro167=) c.762G= (p.Pro254=) n.920G= | |
| 11 | g.17387330C>G | CA473515445 | KCNJ11 | c.501G>C (p.Pro167=) c.762G>C (p.Pro254=) n.920G>C | |
| 11 | g.17387330C>T | CA5902251 | KCNJ11 | c.501G>A (p.Pro167=) c.762G>A (p.Pro254=) n.920G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387331G>A | CA254520 | KCNJ11 | c.500C>T (p.Pro167Leu) c.761C>T (p.Pro254Leu) n.919C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387331G>C | CA379770937 | KCNJ11 | c.500C>G (p.Pro167Arg) c.761C>G (p.Pro254Arg) n.919C>G | |
| 11 | g.17387331G= | CA1955119217 | KCNJ11 | c.500C= (p.Pro167=) c.761C= (p.Pro254=) n.919C= | |
| 11 | g.17387331G>T | CA379770938 | KCNJ11 | c.500C>A (p.Pro167Gln) c.761C>A (p.Pro254Gln) n.919C>A | |
| 11 | g.17387332G>A | CA379770942 | KCNJ11 | c.499C>T (p.Pro167Ser) c.760C>T (p.Pro254Ser) n.918C>T | gnomAD v4 |
| 11 | g.17387332G>C | CA379770944 | KCNJ11 | c.499C>G (p.Pro167Ala) c.760C>G (p.Pro254Ala) n.918C>G | |
| 11 | g.17387332G>T | CA379770946 | KCNJ11 | c.499C>A (p.Pro167Thr) c.760C>A (p.Pro254Thr) n.918C>A | |
| 11 | g.17387333G>A | CA5902252 | KCNJ11 | c.498C>T (p.Ala166=) c.759C>T (p.Ala253=) n.917C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387333G>C | CA5902253 | KCNJ11 | c.498C>G (p.Ala166=) c.759C>G (p.Ala253=) n.917C>G | dbSNP ExAC gnomAD v2 |
| 11 | g.17387333G= | CA1955119218 | KCNJ11 | c.498C= (p.Ala166=) c.759C= (p.Ala253=) n.917C= | |
| 11 | g.17387333G>T | CA473515449 | KCNJ11 | c.498C>A (p.Ala166=) c.759C>A (p.Ala253=) n.917C>A | |
| 11 | g.17387334G>A | CA379770953 | KCNJ11 | c.497C>T (p.Ala166Val) c.758C>T (p.Ala253Val) n.916C>T | dbSNP gnomAD v4 |
| 11 | g.17387334G>C | CA379770955 | KCNJ11 | c.497C>G (p.Ala166Gly) c.758C>G (p.Ala253Gly) n.916C>G | |
| 11 | g.17387334G= | CA1955119219 | KCNJ11 | c.497C= (p.Ala166=) c.758C= (p.Ala253=) n.916C= | |
| 11 | g.17387334G>T | CA379770969 | KCNJ11 | c.497C>A (p.Ala166Asp) c.758C>A (p.Ala253Asp) n.916C>A | gnomAD v4 |
| 11 | g.17387335C>A | CA379770976 | KCNJ11 | c.496G>T (p.Ala166Ser) c.757G>T (p.Ala253Ser) n.915G>T | gnomAD v4 |
| 11 | g.17387335C>G | CA379770979 | KCNJ11 | c.496G>C (p.Ala166Pro) c.757G>C (p.Ala253Pro) n.915G>C | |
| 11 | g.17387335C>T | CA379770974 | KCNJ11 | c.496G>A (p.Ala166Thr) c.757G>A (p.Ala253Thr) n.915G>A | gnomAD v4 |
| 11 | g.17387336C>A | CA473515454 | KCNJ11 | c.495G>T (p.Val165=) c.756G>T (p.Val252=) n.914G>T | |
| 11 | g.17387336C>G | CA473515455 | KCNJ11 | c.495G>C (p.Val165=) c.756G>C (p.Val252=) n.914G>C | |
| 11 | g.17387336C>T | CA473515456 | KCNJ11 | c.495G>A (p.Val165=) c.756G>A (p.Val252=) n.914G>A | |
| 11 | g.17387337del | CA2612638705 | KCNJ11 | c.494del (p.Val165GlyfsTer4) c.755del (p.Val252GlyfsTer4) n.913del | gnomAD v4 |
| 11 | g.17387337A= | CA1955119220 | KCNJ11 | c.494T= (p.Val165=) c.755T= (p.Val252=) n.913T= | |
| 11 | g.17387337A>C | CA379770983 | KCNJ11 | c.494T>G (p.Val165Gly) c.755T>G (p.Val252Gly) n.913T>G | |
| 11 | g.17387337A>G | CA341726 | KCNJ11 | c.494T>C (p.Val165Ala) c.755T>C (p.Val252Ala) n.913T>C | ClinVar dbSNP |
| 11 | g.17387337A>T | CA379770987 | KCNJ11 | c.494T>A (p.Val165Glu) c.755T>A (p.Val252Glu) n.913T>A | |
| 11 | g.17387338C>A | CA379770990 | KCNJ11 | c.493G>T (p.Val165Leu) c.754G>T (p.Val252Leu) n.912G>T | ClinVar dbSNP |
| 11 | g.17387338C>G | CA379770993 | KCNJ11 | c.493G>C (p.Val165Leu) c.754G>C (p.Val252Leu) n.912G>C | |
| 11 | g.17387338C>T | CA379770996 | KCNJ11 | c.493G>A (p.Val165Met) c.754G>A (p.Val252Met) n.912G>A | |
| 11 | g.17387339C>A | CA473515458 | KCNJ11 | c.492G>T (p.Leu164=) c.753G>T (p.Leu251=) n.911G>T | |
| 11 | g.17387339C= | CA1955119221 | KCNJ11 | c.492G= (p.Leu164=) c.753G= (p.Leu251=) n.911G= | |
| 11 | g.17387339C>G | CA5902254 | KCNJ11 | c.492G>C (p.Leu164=) c.753G>C (p.Leu251=) n.911G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387339C>T | CA473515459 | KCNJ11 | c.492G>A (p.Leu164=) c.753G>A (p.Leu251=) n.911G>A | |
| 11 | g.17387340A>C | CA379771004 | KCNJ11 | c.491T>G (p.Leu164Arg) c.752T>G (p.Leu251Arg) n.910T>G | |
| 11 | g.17387340A>G | CA379771008 | KCNJ11 | c.491T>C (p.Leu164Pro) c.752T>C (p.Leu251Pro) n.910T>C | |
| 11 | g.17387340A>T | CA379771005 | KCNJ11 | c.491T>A (p.Leu164Gln) c.752T>A (p.Leu251Gln) n.910T>A | |
| 11 | g.17387341G>A | CA473515460 | KCNJ11 | c.490C>T (p.Leu164=) c.751C>T (p.Leu251=) n.909C>T | |
| 11 | g.17387341G>C | CA379771010 | KCNJ11 | c.490C>G (p.Leu164Val) c.751C>G (p.Leu251Val) n.909C>G | |
| 11 | g.17387341G>T | CA379771011 | KCNJ11 | c.490C>A (p.Leu164Met) c.751C>A (p.Leu251Met) n.909C>A | |
| 11 | g.17387342G>A | CA473515461 | KCNJ11 | c.489C>T (p.Phe163=) c.750C>T (p.Phe250=) n.908C>T | dbSNP |
| 11 | g.17387342G>C | CA379771016 | KCNJ11 | c.489C>G (p.Phe163Leu) c.750C>G (p.Phe250Leu) n.908C>G | |
| 11 | g.17387342G= | CA1955119222 | KCNJ11 | c.489C= (p.Phe163=) c.750C= (p.Phe250=) n.908C= | |
| 11 | g.17387342G>T | CA379771018 | KCNJ11 | c.489C>A (p.Phe163Leu) c.750C>A (p.Phe250Leu) n.908C>A | |
| 11 | g.17387343A>C | CA379771022 | KCNJ11 | c.488T>G (p.Phe163Cys) c.749T>G (p.Phe250Cys) n.907T>G | |
| 11 | g.17387343A>G | CA379771027 | KCNJ11 | c.488T>C (p.Phe163Ser) c.749T>C (p.Phe250Ser) n.907T>C | |
| 11 | g.17387343A>T | CA379771024 | KCNJ11 | c.488T>A (p.Phe163Tyr) c.749T>A (p.Phe250Tyr) n.907T>A | |
| 11 | g.17387344A>C | CA379771031 | KCNJ11 | c.487T>G (p.Phe163Val) c.748T>G (p.Phe250Val) n.906T>G | |
| 11 | g.17387344A>G | CA379771035 | KCNJ11 | c.487T>C (p.Phe163Leu) c.748T>C (p.Phe250Leu) n.906T>C | |
| 11 | g.17387344A>T | CA379771038 | KCNJ11 | c.487T>A (p.Phe163Ile) c.748T>A (p.Phe250Ile) n.906T>A | |
| 11 | g.17387345G>A | CA473515465 | KCNJ11 | c.486C>T (p.Ile162=) c.747C>T (p.Ile249=) n.905C>T | dbSNP |
| 11 | g.17387345G>C | CA379771041 | KCNJ11 | c.486C>G (p.Ile162Met) c.747C>G (p.Ile249Met) n.905C>G | |
| 11 | g.17387345G= | CA1955119223 | KCNJ11 | c.486C= (p.Ile162=) c.747C= (p.Ile249=) n.905C= | |
| 11 | g.17387345G>T | CA473515466 | KCNJ11 | c.486C>A (p.Ile162=) c.747C>A (p.Ile249=) n.905C>A | |
| 11 | g.17387346A>C | CA379771046 | KCNJ11 | c.485T>G (p.Ile162Ser) c.746T>G (p.Ile249Ser) n.904T>G | |
| 11 | g.17387346A>G | CA379771049 | KCNJ11 | c.485T>C (p.Ile162Thr) c.746T>C (p.Ile249Thr) n.904T>C | |
| 11 | g.17387346A>T | CA379771052 | KCNJ11 | c.485T>A (p.Ile162Asn) c.746T>A (p.Ile249Asn) n.904T>A | |
| 11 | g.17387347T>A | CA379771057 | KCNJ11 | c.484A>T (p.Ile162Phe) c.745A>T (p.Ile249Phe) n.903A>T | |
| 11 | g.17387347T>C | CA5902255 | KCNJ11 | c.484A>G (p.Ile162Val) c.745A>G (p.Ile249Val) n.903A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387347T>G | CA379771061 | KCNJ11 | c.484A>C (p.Ile162Leu) c.745A>C (p.Ile249Leu) n.903A>C | |
| 11 | g.17387347T= | CA1955119224 | KCNJ11 | c.484A= (p.Ile162=) c.745A= (p.Ile249=) n.903A= | |
| 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= | |
| 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 | 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= | |
| 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 | gnomAD v4 |
| 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.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= | |
| 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 | 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= | |
| 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.17387359C>A | CA5902256 | KCNJ11 | c.472G>T (p.Gly158Cys) c.733G>T (p.Gly245Cys) n.891G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387359C= | CA1955119229 | KCNJ11 | c.472G= (p.Gly158=) c.733G= (p.Gly245=) n.891G= | |
| 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 | 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 | |
| 11 | g.17387360C= | CA1955119230 | KCNJ11 | c.471G= (p.Val157=) c.732G= (p.Val244=) n.890G= | |
| 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 | gnomAD v4 |
| 11 | g.17387361A>C | CA379771151 | KCNJ11 | c.470T>G (p.Val157Gly) c.731T>G (p.Val244Gly) n.889T>G | |
| 11 | g.17387361A>G | CA379771154 | KCNJ11 | c.470T>C (p.Val157Ala) c.731T>C (p.Val244Ala) n.889T>C | |
| 11 | g.17387361A>T | CA379771157 | KCNJ11 | c.470T>A (p.Val157Glu) c.731T>A (p.Val244Glu) n.889T>A | |
| 11 | g.17387362C>A | CA379771162 | KCNJ11 | c.469G>T (p.Val157Leu) c.730G>T (p.Val244Leu) n.888G>T | dbSNP gnomAD v4 |
| 11 | g.17387362C= | CA1955119231 | KCNJ11 | c.469G= (p.Val157=) c.730G= (p.Val244=) n.888G= | |
| 11 | g.17387362C>G | CA379771165 | KCNJ11 | c.469G>C (p.Val157Leu) c.730G>C (p.Val244Leu) n.888G>C | |
| 11 | g.17387362C>T | CA5902257 | KCNJ11 | c.469G>A (p.Val157Met) c.730G>A (p.Val244Met) n.888G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387363G>A | CA5902258 | KCNJ11 | c.468C>T (p.Gly156=) c.729C>T (p.Gly243=) n.887C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387363G>C | CA473515487 | KCNJ11 | c.468C>G (p.Gly156=) c.729C>G (p.Gly243=) n.887C>G | |
| 11 | g.17387363G= | CA1955119232 | KCNJ11 | c.468C= (p.Gly156=) c.729C= (p.Gly243=) n.887C= | |
| 11 | g.17387363G>T | CA473515486 | KCNJ11 | c.468C>A (p.Gly156=) c.729C>A (p.Gly243=) n.887C>A | |
| 11 | g.17387364C>A | CA379771173 | KCNJ11 | c.467G>T (p.Gly156Val) c.728G>T (p.Gly243Val) n.886G>T | |
| 11 | g.17387364C>G | CA379771177 | KCNJ11 | c.467G>C (p.Gly156Ala) c.728G>C (p.Gly243Ala) n.886G>C | |
| 11 | g.17387364C>T | CA379771175 | KCNJ11 | c.467G>A (p.Gly156Asp) c.728G>A (p.Gly243Asp) n.886G>A | |
| 11 | g.17387365C>A | CA379771181 | KCNJ11 | c.466G>T (p.Gly156Cys) c.727G>T (p.Gly243Cys) n.885G>T | |
| 11 | g.17387365C= | CA1955119233 | KCNJ11 | c.466G= (p.Gly156=) c.727G= (p.Gly243=) n.885G= | |
| 11 | g.17387365C>G | CA379771187 | KCNJ11 | c.466G>C (p.Gly156Arg) c.727G>C (p.Gly243Arg) n.885G>C | |
| 11 | g.17387365C>T | CA379771183 | KCNJ11 | c.466G>A (p.Gly156Ser) c.727G>A (p.Gly243Ser) n.885G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387366G>A | CA209837 | KCNJ11 | c.465C>T (p.Asn155=) c.726C>T (p.Asn242=) n.884C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387366G>C | CA379771194 | KCNJ11 | c.465C>G (p.Asn155Lys) c.726C>G (p.Asn242Lys) n.884C>G | |
| 11 | g.17387366G= | CA1955119234 | KCNJ11 | c.465C= (p.Asn155=) c.726C= (p.Asn242=) n.884C= | |
| 11 | g.17387366G>T | CA218399646 | KCNJ11 | c.465C>A (p.Asn155Lys) c.726C>A (p.Asn242Lys) n.884C>A | dbSNP |
| 11 | g.17387366_17387367del | CA2503102557 | KCNJ11 | c.464_465del (p.Asn155ArgfsTer20) c.725_726del (p.Asn242ArgfsTer20) n.883_884del | |
| 11 | g.17387367T>A | CA379771200 | KCNJ11 | c.464A>T (p.Asn155Ile) c.725A>T (p.Asn242Ile) n.883A>T | |
| 11 | g.17387367T>C | CA379771203 | KCNJ11 | c.464A>G (p.Asn155Ser) c.725A>G (p.Asn242Ser) n.883A>G | |
| 11 | g.17387367T>G | CA379771206 | KCNJ11 | c.464A>C (p.Asn155Thr) c.725A>C (p.Asn242Thr) n.883A>C | |
| 11 | g.17387368T>A | CA379771209 | KCNJ11 | c.463A>T (p.Asn155Tyr) c.724A>T (p.Asn242Tyr) n.882A>T | |
| 11 | g.17387368T>C | CA379771213 | KCNJ11 | c.463A>G (p.Asn155Asp) c.724A>G (p.Asn242Asp) n.882A>G | |
| 11 | g.17387368T>G | CA379771215 | KCNJ11 | c.463A>C (p.Asn155His) c.724A>C (p.Asn242His) n.882A>C | |
| 11 | g.17387369C>A | CA379771219 | KCNJ11 | c.462G>T (p.Glu154Asp) c.723G>T (p.Glu241Asp) n.881G>T | |
| 11 | g.17387369C>G | CA379771222 | KCNJ11 | c.462G>C (p.Glu154Asp) c.723G>C (p.Glu241Asp) n.881G>C | |
| 11 | g.17387369C>T | CA473515493 | KCNJ11 | c.462G>A (p.Glu154=) c.723G>A (p.Glu241=) n.881G>A | gnomAD v4 |
| 11 | g.17387370T>A | CA379771232 | KCNJ11 | c.461A>T (p.Glu154Val) c.722A>T (p.Glu241Val) c.461A>T n.880A>T | dbSNP |
| 11 | g.17387370T>C | CA379771230 | KCNJ11 | c.461A>G (p.Glu154Gly) c.722A>G (p.Glu241Gly) c.461A>G n.880A>G | gnomAD v4 |
| 11 | g.17387370T>G | CA379771227 | KCNJ11 | c.461A>C (p.Glu154Ala) c.722A>C (p.Glu241Ala) c.461A>C n.880A>C | |
| 11 | g.17387370T= | CA1955119235 | KCNJ11 | c.461A= (p.Glu154=) c.722A= (p.Glu241=) c.461A= n.880A= | |
| 11 | g.17387371C>A | CA379771235 | KCNJ11 | c.460G>T (p.Glu154Ter) c.721G>T (p.Glu241Ter) c.460G>T n.879G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387371C= | CA1955119236 | KCNJ11 | c.460G= (p.Glu154=) c.721G= (p.Glu241=) c.460G= n.879G= | |
| 11 | g.17387371C>G | CA379771238 | KCNJ11 | c.460G>C (p.Glu154Gln) c.721G>C (p.Glu241Gln) c.460G>C n.879G>C | |
| 11 | g.17387371C>T | CA379771240 | KCNJ11 | c.460G>A (p.Glu154Lys) c.721G>A (p.Glu241Lys) c.460G>A n.879G>A | |
| 11 | g.17387372C>A | CA379771244 | KCNJ11 | c.459G>T (p.Met153Ile) c.720G>T (p.Met240Ile) n.878G>T | |
| 11 | g.17387372C= | CA1955119237 | KCNJ11 | c.459G= (p.Met153=) c.720G= (p.Met240=) n.878G= | |
| 11 | g.17387372C>G | CA5902259 | KCNJ11 | c.459G>C (p.Met153Ile) c.720G>C (p.Met240Ile) n.878G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387372C>T | CA379771249 | KCNJ11 | c.459G>A (p.Met153Ile) c.720G>A (p.Met240Ile) n.878G>A | COSMIC |
| 11 | g.17387373A= | CA1955119238 | KCNJ11 | c.458T= (p.Met153=) c.719T= (p.Met240=) n.877T= | |
| 11 | g.17387373A>C | CA10604719 | KCNJ11 | c.458T>G (p.Met153Arg) c.719T>G (p.Met240Arg) n.877T>G | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387373A>G | CA379771256 | KCNJ11 | c.458T>C (p.Met153Thr) c.719T>C (p.Met240Thr) n.877T>C | gnomAD v4 |
| 11 | g.17387373A>T | CA379771259 | KCNJ11 | c.458T>A (p.Met153Lys) c.719T>A (p.Met240Lys) n.877T>A | |
| 11 | g.17387373dup | CA912971882 | KCNJ11 | c.458dup (p.Met153IlefsTer23) c.719dup (p.Met240IlefsTer23) c.458dup (p.Met153IlefsTer?) n.877dup | |
| 11 | g.17387374T>A | CA379771263 | KCNJ11 | c.457A>T (p.Met153Leu) c.718A>T (p.Met240Leu) n.876A>T | |
| 11 | g.17387374T>C | CA379771268 | KCNJ11 | c.457A>G (p.Met153Val) c.718A>G (p.Met240Val) n.876A>G | |
| 11 | g.17387374T>G | CA379771270 | KCNJ11 | c.457A>C (p.Met153Leu) c.718A>C (p.Met240Leu) n.876A>C | |
| 11 | g.17387374dup | CA658822454 | KCNJ11 | c.457dup (p.Met153AsnfsTer23) c.718dup (p.Met240AsnfsTer23) c.457dup (p.Met153AsnfsTer?) n.876dup | ClinVar dbSNP |
| 11 | g.17387375G>A | CA473515588 | KCNJ11 | c.456C>T (p.Pro152=) c.717C>T (p.Pro239=) n.875C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387375G>C | CA473515590 | KCNJ11 | c.456C>G (p.Pro152=) c.717C>G (p.Pro239=) n.875C>G | |
| 11 | g.17387375G= | CA1955119239 | KCNJ11 | c.456C= (p.Pro152=) c.717C= (p.Pro239=) n.875C= | |
| 11 | g.17387375G>T | CA473515591 | KCNJ11 | c.456C>A (p.Pro152=) c.717C>A (p.Pro239=) n.875C>A | |
| 11 | g.17387376G>A | CA379771275 | KCNJ11 | c.455C>T (p.Pro152Leu) c.716C>T (p.Pro239Leu) n.874C>T | |
| 11 | g.17387376G>C | CA379771280 | KCNJ11 | c.455C>G (p.Pro152Arg) c.716C>G (p.Pro239Arg) n.874C>G | |
| 11 | g.17387376G>T | CA379771278 | KCNJ11 | c.455C>A (p.Pro152His) c.716C>A (p.Pro239His) n.874C>A | COSMIC |
| 11 | g.17387377G>A | CA379771287 | KCNJ11 | c.454C>T (p.Pro152Ser) c.715C>T (p.Pro239Ser) n.873C>T | |
| 11 | g.17387377G>C | CA379771289 | KCNJ11 | c.454C>G (p.Pro152Ala) c.715C>G (p.Pro239Ala) n.873C>G | |
| 11 | g.17387377G>T | CA379771291 | KCNJ11 | c.454C>A (p.Pro152Thr) c.715C>A (p.Pro239Thr) n.873C>A | |
| 11 | g.17387378G>A | CA473515594 | KCNJ11 | c.453C>T (p.Ile151=) c.714C>T (p.Ile238=) n.872C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387378G>C | CA379771295 | KCNJ11 | c.453C>G (p.Ile151Met) c.714C>G (p.Ile238Met) n.872C>G | |
| 11 | g.17387378G= | CA1955119240 | KCNJ11 | c.453C= (p.Ile151=) c.714C= (p.Ile238=) n.872C= | |
| 11 | g.17387378G>T | CA473515596 | KCNJ11 | c.453C>A (p.Ile151=) c.714C>A (p.Ile238=) n.872C>A | dbSNP gnomAD v4 |
| 11 | g.17387379A>C | CA379771298 | KCNJ11 | c.452T>G (p.Ile151Ser) c.713T>G (p.Ile238Ser) n.871T>G | |
| 11 | g.17387379A>G | CA379771304 | KCNJ11 | c.452T>C (p.Ile151Thr) c.713T>C (p.Ile238Thr) n.871T>C | |
| 11 | g.17387379A>T | CA379771305 | KCNJ11 | c.452T>A (p.Ile151Asn) c.713T>A (p.Ile238Asn) n.871T>A | |
| 11 | g.17387380T>A | CA379771313 | KCNJ11 | c.451A>T (p.Ile151Phe) c.712A>T (p.Ile238Phe) n.870A>T | |
| 11 | g.17387380T>C | CA379771307 | KCNJ11 | c.451A>G (p.Ile151Val) c.712A>G (p.Ile238Val) n.870A>G | gnomAD v4 |
| 11 | g.17387380T>G | CA379771310 | KCNJ11 | c.451A>C (p.Ile151Leu) c.712A>C (p.Ile238Leu) n.870A>C | |
| 11 | g.17387381G>A | CA473515598 | KCNJ11 | c.450C>T (p.Asp150=) c.711C>T (p.Asp237=) n.869C>T | |
| 11 | g.17387381G>C | CA379771314 | KCNJ11 | c.450C>G (p.Asp150Glu) c.711C>G (p.Asp237Glu) n.869C>G | |
| 11 | g.17387381G>T | CA379771315 | KCNJ11 | c.450C>A (p.Asp150Glu) c.711C>A (p.Asp237Glu) n.869C>A | |
| 11 | g.17387382T>A | CA379771316 | KCNJ11 | c.449A>T (p.Asp150Val) c.710A>T (p.Asp237Val) n.868A>T | gnomAD v4 |
| 11 | g.17387382T>C | CA379771318 | KCNJ11 | c.449A>G (p.Asp150Gly) c.710A>G (p.Asp237Gly) n.868A>G | gnomAD v4 |
| 11 | g.17387382T>G | CA379771319 | KCNJ11 | c.449A>C (p.Asp150Ala) c.710A>C (p.Asp237Ala) n.868A>C | |
| 11 | g.17387383C>A | CA379771323 | KCNJ11 | c.448G>T (p.Asp150Tyr) c.709G>T (p.Asp237Tyr) n.867G>T | |
| 11 | g.17387383C>G | CA379771327 | KCNJ11 | c.448G>C (p.Asp150His) c.709G>C (p.Asp237His) n.867G>C | |
| 11 | g.17387383C>T | CA379771325 | KCNJ11 | c.448G>A (p.Asp150Asn) c.709G>A (p.Asp237Asn) n.867G>A | |
| 11 | g.17387384C>A | CA473515601 | KCNJ11 | c.447G>T (p.Val149=) c.708G>T (p.Val236=) n.866G>T | |
| 11 | g.17387384C= | CA1955119241 | KCNJ11 | c.447G= (p.Val149=) c.708G= (p.Val236=) n.866G= | |
| 11 | g.17387384C>G | CA473515602 | KCNJ11 | c.447G>C (p.Val149=) c.708G>C (p.Val236=) n.866G>C | |
| 11 | g.17387384C>T | CA5902260 | KCNJ11 | c.447G>A (p.Val149=) c.708G>A (p.Val236=) n.866G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387385A= | CA1955119242 | KCNJ11 | c.446T= (p.Val149=) c.707T= (p.Val236=) n.865T= | |
| 11 | g.17387385A>C | CA379771334 | KCNJ11 | c.446T>G (p.Val149Gly) c.707T>G (p.Val236Gly) n.865T>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387385A>G | CA379771338 | KCNJ11 | c.446T>C (p.Val149Ala) c.707T>C (p.Val236Ala) n.865T>C | |
| 11 | g.17387385A>T | CA379771342 | KCNJ11 | c.446T>A (p.Val149Glu) c.707T>A (p.Val236Glu) n.865T>A | |
| 11 | g.17387386C>A | CA379771346 | KCNJ11 | c.445G>T (p.Val149Leu) c.706G>T (p.Val236Leu) n.864G>T | |
| 11 | g.17387386C= | CA1955119243 | KCNJ11 | c.445G= (p.Val149=) c.706G= (p.Val236=) n.864G= | |
| 11 | g.17387386C>G | CA379771349 | KCNJ11 | c.445G>C (p.Val149Leu) c.706G>C (p.Val236Leu) n.864G>C | |
| 11 | g.17387386C>T | CA379771352 | KCNJ11 | c.445G>A (p.Val149Met) c.706G>A (p.Val236Met) n.864G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387387del | CA2612638732 | KCNJ11 | c.445del (p.Val149TrpfsTer20) c.706del (p.Val236TrpfsTer20) c.445del (p.Val149TrpfsTer?) n.864del | gnomAD v4 |
| 11 | g.17387387C>A | CA379771355 | KCNJ11 | c.444G>T (p.Gln148His) c.705G>T (p.Gln235His) n.863G>T | |
| 11 | g.17387387C>G | CA379771356 | KCNJ11 | c.444G>C (p.Gln148His) c.705G>C (p.Gln235His) n.863G>C | |
| 11 | g.17387387C>T | CA473515605 | KCNJ11 | c.444G>A (p.Gln148=) c.705G>A (p.Gln235=) n.863G>A | |
| 11 | g.17387388T>A | CA379771361 | KCNJ11 | c.443A>T (p.Gln148Leu) c.704A>T (p.Gln235Leu) n.862A>T | |
| 11 | g.17387388T>C | CA379771364 | KCNJ11 | c.443A>G (p.Gln148Arg) c.704A>G (p.Gln235Arg) n.862A>G | |
| 11 | g.17387388T>G | CA379771366 | KCNJ11 | c.443A>C (p.Gln148Pro) c.704A>C (p.Gln235Pro) n.862A>C | |
| 11 | g.17387389G>A | CA379771370 | KCNJ11 | c.442C>T (p.Gln148Ter) c.703C>T (p.Gln235Ter) n.861C>T | |
| 11 | g.17387389G>C | CA379771373 | KCNJ11 | c.442C>G (p.Gln148Glu) c.703C>G (p.Gln235Glu) n.861C>G | |
| 11 | g.17387389G>T | CA379771372 | KCNJ11 | c.442C>A (p.Gln148Lys) c.703C>A (p.Gln235Lys) n.861C>A | |
| 11 | g.17387390G>A | CA473515608 | KCNJ11 | c.441C>T (p.His147=) c.702C>T (p.His234=) n.860C>T | gnomAD v4 |
| 11 | g.17387390G>C | CA379771376 | KCNJ11 | c.441C>G (p.His147Gln) c.702C>G (p.His234Gln) n.860C>G | |
| 11 | g.17387390G>T | CA379771379 | KCNJ11 | c.441C>A (p.His147Gln) c.702C>A (p.His234Gln) n.860C>A | |
| 11 | g.17387391T>A | CA379771384 | KCNJ11 | c.440A>T (p.His147Leu) c.701A>T (p.His234Leu) n.859A>T | |
| 11 | g.17387391T>C | CA379771387 | KCNJ11 | c.440A>G (p.His147Arg) c.701A>G (p.His234Arg) n.859A>G | |
| 11 | g.17387391T>G | CA379771390 | KCNJ11 | c.440A>C (p.His147Pro) c.701A>C (p.His234Pro) n.859A>C | |
| 11 | g.17387392G>A | CA5902261 | KCNJ11 | c.439C>T (p.His147Tyr) c.700C>T (p.His234Tyr) n.858C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387392G>C | CA379771396 | KCNJ11 | c.439C>G (p.His147Asp) c.700C>G (p.His234Asp) n.858C>G | |
| 11 | g.17387392G= | CA1955119244 | KCNJ11 | c.439C= (p.His147=) c.700C= (p.His234=) n.858C= | |
| 11 | g.17387392G>T | CA379771395 | KCNJ11 | c.439C>A (p.His147Asn) c.700C>A (p.His234Asn) n.858C>A | |
| 11 | g.17387393G>A | CA473515612 | KCNJ11 | c.438C>T (p.Leu146=) c.699C>T (p.Leu233=) n.857C>T | |
| 11 | g.17387393G>C | CA473515611 | KCNJ11 | c.438C>G (p.Leu146=) c.699C>G (p.Leu233=) n.857C>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387393G= | CA1955119245 | KCNJ11 | c.438C= (p.Leu146=) c.699C= (p.Leu233=) n.857C= | |
| 11 | g.17387393G>T | CA473515610 | KCNJ11 | c.438C>A (p.Leu146=) c.699C>A (p.Leu233=) n.857C>A | |
| 11 | g.17387394A>C | CA379771401 | KCNJ11 | c.437T>G (p.Leu146Arg) c.698T>G (p.Leu233Arg) n.856T>G | |
| 11 | g.17387394A>G | CA379771403 | KCNJ11 | c.437T>C (p.Leu146Pro) c.698T>C (p.Leu233Pro) n.856T>C | |
| 11 | g.17387394A>T | CA379771405 | KCNJ11 | c.437T>A (p.Leu146His) c.698T>A (p.Leu233His) n.856T>A | |
| 11 | g.17387395G>A | CA379771407 | KCNJ11 | c.436C>T (p.Leu146Phe) c.697C>T (p.Leu233Phe) n.855C>T | ClinVar dbSNP COSMIC |
| 11 | g.17387395G>C | CA379771410 | KCNJ11 | c.436C>G (p.Leu146Val) c.697C>G (p.Leu233Val) n.855C>G | |
| 11 | g.17387395G= | CA1955119246 | KCNJ11 | c.436C= (p.Leu146=) c.697C= (p.Leu233=) n.855C= | |
| 11 | g.17387395G>T | CA379771412 | KCNJ11 | c.436C>A (p.Leu146Ile) c.697C>A (p.Leu233Ile) n.855C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387396G>A | CA473515615 | KCNJ11 | c.435C>T (p.Pro145=) c.696C>T (p.Pro232=) n.854C>T | |
| 11 | g.17387396G>C | CA473515616 | KCNJ11 | c.435C>G (p.Pro145=) c.696C>G (p.Pro232=) n.854C>G | |
| 11 | g.17387396G>T | CA473515617 | KCNJ11 | c.435C>A (p.Pro145=) c.696C>A (p.Pro232=) n.854C>A |