Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70175527_70175532del | CA658820863 | KCNJ2 | c.488_493del (p.Phe163_Gln164del) | |
17 | g.70175531G>A | CA501700744 | KCNJ2 | c.492G>A (p.Gln164=) | |
17 | g.70175531G>C | CA400860717 | KCNJ2 | c.492G>C (p.Gln164His) | |
17 | g.70175531G>T | CA400860718 | KCNJ2 | c.492G>T (p.Gln164His) | |
17 | g.70175532T>A | CA400860719 | KCNJ2 | c.493T>A (p.Ser165Thr) | |
17 | g.70175532T>C | CA400860720 | KCNJ2 | c.493T>C (p.Ser165Pro) | |
17 | g.70175532T>G | CA400860721 | KCNJ2 | c.493T>G (p.Ser165Ala) | |
17 | g.70175533C>A | CA400860722 | KCNJ2 | c.494C>A (p.Ser165Ter) | |
17 | g.70175533C>G | CA400860723 | KCNJ2 | c.494C>G (p.Ser165Ter) | |
17 | g.70175533C>T | CA400860724 | KCNJ2 | c.494C>T (p.Ser165Leu) | ClinVar |
17 | g.70175534A>C | CA501700750 | KCNJ2 | c.495A>C (p.Ser165=) | |
17 | g.70175534A>G | CA501700751 | KCNJ2 | c.495A>G (p.Ser165=) | |
17 | g.70175534A>T | CA501700752 | KCNJ2 | c.495A>T (p.Ser165=) | |
17 | g.70175535A= | CA2272996597 | KCNJ2 | c.496A= (p.Ile166=) | |
17 | g.70175535A>C | CA400860727 | KCNJ2 | c.496A>C (p.Ile166Leu) | |
17 | g.70175535A>G | CA400860725 | KCNJ2 | c.496A>G (p.Ile166Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175535A>T | CA400860726 | KCNJ2 | c.496A>T (p.Ile166Phe) | |
17 | g.70175539_70175553dup | CA2573154860 | KCNJ2 | c.500_514dup (p.Ile171_Asp172insValGlyCysIleIle) | ClinVar dbSNP |
17 | g.70175536T>A | CA400860728 | KCNJ2 | c.497T>A (p.Ile166Asn) | |
17 | g.70175536T>C | CA400860729 | KCNJ2 | c.497T>C (p.Ile166Thr) | |
17 | g.70175536T>G | CA400860730 | KCNJ2 | c.497T>G (p.Ile166Ser) | |
17 | g.70175537C>A | CA501700753 | KCNJ2 | c.498C>A (p.Ile166=) | gnomAD v3 gnomAD v4 |
17 | g.70175537C= | CA2272996598 | KCNJ2 | c.498C= (p.Ile166=) | |
17 | g.70175537C>G | CA400860731 | KCNJ2 | c.498C>G (p.Ile166Met) | dbSNP |
17 | g.70175537C>T | CA8738735 | KCNJ2 | c.498C>T (p.Ile166=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175538G>A | CA8738736 | KCNJ2 | c.499G>A (p.Val167Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175538G>C | CA400860733 | KCNJ2 | c.499G>C (p.Val167Leu) | gnomAD v4 |
17 | g.70175538G= | CA2272996599 | KCNJ2 | c.499G= (p.Val167=) | |
17 | g.70175538G>T | CA400860735 | KCNJ2 | c.499G>T (p.Val167Leu) | ClinVar dbSNP gnomAD v4 |
17 | g.70175539T>A | CA400860738 | KCNJ2 | c.500T>A (p.Val167Glu) | |
17 | g.70175539T>C | CA400860740 | KCNJ2 | c.500T>C (p.Val167Ala) | |
17 | g.70175539T>G | CA400860742 | KCNJ2 | c.500T>G (p.Val167Gly) | |
17 | g.70175540G>A | CA501700764 | KCNJ2 | c.501G>A (p.Val167=) | gnomAD v4 |
17 | g.70175540G>C | CA501700762 | KCNJ2 | c.501G>C (p.Val167=) | |
17 | g.70175540G>T | CA501700761 | KCNJ2 | c.501G>T (p.Val167=) | |
17 | g.70175542del | CA2639593900 | KCNJ2 | c.503del (p.Gly168AlafsTer?) | gnomAD v4 |
17 | g.70175541G>A | CA400860743 | KCNJ2 | c.502G>A (p.Gly168Ser) | |
17 | g.70175541G>C | CA400860744 | KCNJ2 | c.502G>C (p.Gly168Arg) | |
17 | g.70175541G>T | CA400860747 | KCNJ2 | c.502G>T (p.Gly168Cys) | |
17 | g.70175542G>A | CA400860749 | KCNJ2 | c.503G>A (p.Gly168Asp) | |
17 | g.70175542G>C | CA400860750 | KCNJ2 | c.503G>C (p.Gly168Ala) | |
17 | g.70175542G>T | CA400860752 | KCNJ2 | c.503G>T (p.Gly168Val) | |
17 | g.70175543C>A | CA501700771 | KCNJ2 | c.504C>A (p.Gly168=) | |
17 | g.70175543C= | CA2272996600 | KCNJ2 | c.504C= (p.Gly168=) | |
17 | g.70175543C>G | CA501700773 | KCNJ2 | c.504C>G (p.Gly168=) | |
17 | g.70175543C>T | CA501700775 | KCNJ2 | c.504C>T (p.Gly168=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175544T>A | CA400860754 | KCNJ2 | c.505T>A (p.Cys169Ser) | |
17 | g.70175544T>C | CA400860756 | KCNJ2 | c.505T>C (p.Cys169Arg) | |
17 | g.70175544T>G | CA400860758 | KCNJ2 | c.505T>G (p.Cys169Gly) | |
17 | g.70175545G>A | CA400860760 | KCNJ2 | c.506G>A (p.Cys169Tyr) | |
17 | g.70175545G>C | CA400860764 | KCNJ2 | c.506G>C (p.Cys169Ser) | |
17 | g.70175545G>T | CA400860762 | KCNJ2 | c.506G>T (p.Cys169Phe) | |
17 | g.70175546C>A | CA400860766 | KCNJ2 | c.507C>A (p.Cys169Ter) | |
17 | g.70175546C>G | CA400860768 | KCNJ2 | c.507C>G (p.Cys169Trp) | |
17 | g.70175546C>T | CA501700780 | KCNJ2 | c.507C>T (p.Cys169=) | |
17 | g.70175547A>C | CA400860770 | KCNJ2 | c.508A>C (p.Ile170Leu) | |
17 | g.70175547A>G | CA400860772 | KCNJ2 | c.508A>G (p.Ile170Val) | |
17 | g.70175547A>T | CA400860774 | KCNJ2 | c.508A>T (p.Ile170Phe) | |
17 | g.70175548T>A | CA400860776 | KCNJ2 | c.509T>A (p.Ile170Asn) | |
17 | g.70175548T>C | CA400860778 | KCNJ2 | c.509T>C (p.Ile170Thr) | |
17 | g.70175548T>G | CA400860780 | KCNJ2 | c.509T>G (p.Ile170Ser) | gnomAD v4 |
17 | g.70175549C>A | CA501700782 | KCNJ2 | c.510C>A (p.Ile170=) | |
17 | g.70175549C= | CA2272996601 | KCNJ2 | c.510C= (p.Ile170=) | |
17 | g.70175549C>G | CA400860782 | KCNJ2 | c.510C>G (p.Ile170Met) | ClinVar dbSNP |
17 | g.70175549C>T | CA501700783 | KCNJ2 | c.510C>T (p.Ile170=) | ClinVar |
17 | g.70175550A= | CA2272996602 | KCNJ2 | c.511A= (p.Ile171=) | |
17 | g.70175550A>C | CA400860785 | KCNJ2 | c.511A>C (p.Ile171Leu) | |
17 | g.70175550A>G | CA8738737 | KCNJ2 | c.511A>G (p.Ile171Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175550A>T | CA400860788 | KCNJ2 | c.511A>T (p.Ile171Phe) | |
17 | g.70175551T>A | CA400860794 | KCNJ2 | c.512T>A (p.Ile171Asn) | |
17 | g.70175551T>C | CA400860790 | KCNJ2 | c.512T>C (p.Ile171Thr) | |
17 | g.70175551T>G | CA400860792 | KCNJ2 | c.512T>G (p.Ile171Ser) | |
17 | g.70175552C>A | CA501700790 | KCNJ2 | c.513C>A (p.Ile171=) | |
17 | g.70175552C= | CA2272996603 | KCNJ2 | c.513C= (p.Ile171=) | |
17 | g.70175552C>G | CA400860796 | KCNJ2 | c.513C>G (p.Ile171Met) | COSMIC |
17 | g.70175552C>T | CA8738738 | KCNJ2 | c.513C>T (p.Ile171=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175553G>A | CA120002 | KCNJ2 | c.514G>A (p.Asp172Asn) | ClinVar dbSNP COSMIC |
17 | g.70175553G>C | CA400860801 | KCNJ2 | c.514G>C (p.Asp172His) | |
17 | g.70175553G= | CA2272996604 | KCNJ2 | c.514G= (p.Asp172=) | |
17 | g.70175553G>T | CA400860803 | KCNJ2 | c.514G>T (p.Asp172Tyr) | |
17 | g.70175554A>C | CA400860805 | KCNJ2 | c.515A>C (p.Asp172Ala) | |
17 | g.70175554A>G | CA400860806 | KCNJ2 | c.515A>G (p.Asp172Gly) | gnomAD v4 |
17 | g.70175554A>T | CA400860808 | KCNJ2 | c.515A>T (p.Asp172Val) | |
17 | g.70175555T>A | CA400860810 | KCNJ2 | c.516T>A (p.Asp172Glu) | |
17 | g.70175555T>C | CA501700795 | KCNJ2 | c.516T>C (p.Asp172=) | |
17 | g.70175555T>G | CA400860812 | KCNJ2 | c.516T>G (p.Asp172Glu) | |
17 | g.70175556G>A | CA8738739 | KCNJ2 | c.517G>A (p.Ala173Thr) | dbSNP ExAC |
17 | g.70175556G>C | CA400860816 | KCNJ2 | c.517G>C (p.Ala173Pro) | |
17 | g.70175556G= | CA2272996605 | KCNJ2 | c.517G= (p.Ala173=) | |
17 | g.70175556G>T | CA400860814 | KCNJ2 | c.517G>T (p.Ala173Ser) | ClinVar dbSNP |
17 | g.70175557C>A | CA400860819 | KCNJ2 | c.518C>A (p.Ala173Asp) | |
17 | g.70175557C>G | CA400860823 | KCNJ2 | c.518C>G (p.Ala173Gly) | |
17 | g.70175557C>T | CA400860821 | KCNJ2 | c.518C>T (p.Ala173Val) | |
17 | g.70175558T>A | CA501700798 | KCNJ2 | c.519T>A (p.Ala173=) | |
17 | g.70175558T>C | CA501700799 | KCNJ2 | c.519T>C (p.Ala173=) | |
17 | g.70175558T>G | CA501700801 | KCNJ2 | c.519T>G (p.Ala173=) | |
17 | g.70175559T>A | CA400860825 | KCNJ2 | c.520T>A (p.Phe174Ile) | |
17 | g.70175559T>C | CA400860827 | KCNJ2 | c.520T>C (p.Phe174Leu) | |
17 | g.70175559T>G | CA400860829 | KCNJ2 | c.520T>G (p.Phe174Val) | |
17 | g.70175560T>A | CA400860831 | KCNJ2 | c.521T>A (p.Phe174Tyr) | |
17 | g.70175560T>C | CA400860833 | KCNJ2 | c.521T>C (p.Phe174Ser) | |
17 | g.70175560T>G | CA400860835 | KCNJ2 | c.521T>G (p.Phe174Cys) | gnomAD v4 |
17 | g.70175561C>A | CA400860837 | KCNJ2 | c.522C>A (p.Phe174Leu) | |
17 | g.70175561C>G | CA400860839 | KCNJ2 | c.522C>G (p.Phe174Leu) | |
17 | g.70175561C>T | CA501700803 | KCNJ2 | c.522C>T (p.Phe174=) | |
17 | g.70175562A= | CA2272996606 | KCNJ2 | c.523A= (p.Ile175=) | |
17 | g.70175562A>C | CA293702916 | KCNJ2 | c.523A>C (p.Ile175Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175562A>G | CA400860843 | KCNJ2 | c.523A>G (p.Ile175Val) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175562A>T | CA400860844 | KCNJ2 | c.523A>T (p.Ile175Phe) | |
17 | g.70175563T>A | CA400860851 | KCNJ2 | c.524T>A (p.Ile175Asn) | |
17 | g.70175563T>C | CA400860849 | KCNJ2 | c.524T>C (p.Ile175Thr) | COSMIC |
17 | g.70175563T>G | CA400860847 | KCNJ2 | c.524T>G (p.Ile175Ser) | |
17 | g.70175563T= | CA2272996607 | KCNJ2 | c.524T= (p.Ile175=) | |
17 | g.70175564C>A | CA501700805 | KCNJ2 | c.525C>A (p.Ile175=) | gnomAD v4 |
17 | g.70175564C>G | CA400860853 | KCNJ2 | c.525C>G (p.Ile175Met) | |
17 | g.70175564C>T | CA501700806 | KCNJ2 | c.525C>T (p.Ile175=) | |
17 | g.70175565_70175570dup | CA915952198 | KCNJ2 | c.526_531dup (p.Gly177_Ala178insIleGly) | ClinVar dbSNP |
17 | g.70175565A>C | CA400860855 | KCNJ2 | c.526A>C (p.Ile176Leu) | |
17 | g.70175565A>G | CA400860858 | KCNJ2 | c.526A>G (p.Ile176Val) | |
17 | g.70175565A>T | CA400860860 | KCNJ2 | c.526A>T (p.Ile176Phe) | |
17 | g.70175566T>A | CA400860862 | KCNJ2 | c.527T>A (p.Ile176Asn) | |
17 | g.70175566T>C | CA400860863 | KCNJ2 | c.527T>C (p.Ile176Thr) | |
17 | g.70175566T>G | CA400860865 | KCNJ2 | c.527T>G (p.Ile176Ser) | |
17 | g.70175567T>A | CA501700807 | KCNJ2 | c.528T>A (p.Ile176=) | |
17 | g.70175567T>C | CA501700808 | KCNJ2 | c.528T>C (p.Ile176=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175567T>G | CA400860867 | KCNJ2 | c.528T>G (p.Ile176Met) | |
17 | g.70175567T= | CA2272996608 | KCNJ2 | c.528T= (p.Ile176=) | |
17 | g.70175568G>A | CA400860870 | KCNJ2 | c.529G>A (p.Gly177Ser) | ClinVar dbSNP |
17 | g.70175568G>C | CA400860872 | KCNJ2 | c.529G>C (p.Gly177Arg) | |
17 | g.70175568G= | CA2272996609 | KCNJ2 | c.529G= (p.Gly177=) | |
17 | g.70175568G>T | CA400860874 | KCNJ2 | c.529G>T (p.Gly177Cys) | |
17 | g.70175569G>A | CA400860878 | KCNJ2 | c.530G>A (p.Gly177Asp) | |
17 | g.70175569G>C | CA293702917 | KCNJ2 | c.530G>C (p.Gly177Ala) | dbSNP |
17 | g.70175569G= | CA2272996610 | KCNJ2 | c.530G= (p.Gly177=) | |
17 | g.70175569G>T | CA400860876 | KCNJ2 | c.530G>T (p.Gly177Val) | COSMIC |
17 | g.70175570C>A | CA501700810 | KCNJ2 | c.531C>A (p.Gly177=) | ClinVar |
17 | g.70175570C= | CA2272996611 | KCNJ2 | c.531C= (p.Gly177=) | |
17 | g.70175570C>G | CA501700811 | KCNJ2 | c.531C>G (p.Gly177=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175570C>T | CA8738740 | KCNJ2 | c.531C>T (p.Gly177=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175571G>A | CA400860881 | KCNJ2 | c.532G>A (p.Ala178Thr) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175571G>C | CA400860884 | KCNJ2 | c.532G>C (p.Ala178Pro) | |
17 | g.70175571G= | CA2272996612 | KCNJ2 | c.532G= (p.Ala178=) | |
17 | g.70175571G>T | CA8738741 | KCNJ2 | c.532G>T (p.Ala178Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
17 | g.70175572C>A | CA400860887 | KCNJ2 | c.533C>A (p.Ala178Glu) | |
17 | g.70175572C>G | CA400860889 | KCNJ2 | c.533C>G (p.Ala178Gly) | |
17 | g.70175572C>T | CA400860891 | KCNJ2 | c.533C>T (p.Ala178Val) | |
17 | g.70175573A>C | CA501700812 | KCNJ2 | c.534A>C (p.Ala178=) | |
17 | g.70175573A>G | CA501700814 | KCNJ2 | c.534A>G (p.Ala178=) | |
17 | g.70175573A>T | CA501700816 | KCNJ2 | c.534A>T (p.Ala178=) | |
17 | g.70175574G>A | CA8738742 | KCNJ2 | c.535G>A (p.Val179Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175574G>C | CA400860895 | KCNJ2 | c.535G>C (p.Val179Leu) | |
17 | g.70175574G= | CA2272996613 | KCNJ2 | c.535G= (p.Val179=) | |
17 | g.70175574G>T | CA400860897 | KCNJ2 | c.535G>T (p.Val179Phe) | gnomAD v4 COSMIC |
17 | g.70175575T>A | CA400860898 | KCNJ2 | c.536T>A (p.Val179Asp) | |
17 | g.70175575T>C | CA400860900 | KCNJ2 | c.536T>C (p.Val179Ala) | |
17 | g.70175575T>G | CA400860902 | KCNJ2 | c.536T>G (p.Val179Gly) | |
17 | g.70175576C>A | CA501700818 | KCNJ2 | c.537C>A (p.Val179=) | COSMIC |
17 | g.70175576C>G | CA501700819 | KCNJ2 | c.537C>G (p.Val179=) | |
17 | g.70175576C>T | CA501700820 | KCNJ2 | c.537C>T (p.Val179=) | |
17 | g.70175577A>C | CA400860907 | KCNJ2 | c.538A>C (p.Met180Leu) | |
17 | g.70175577A>G | CA400860904 | KCNJ2 | c.538A>G (p.Met180Val) | gnomAD v4 |
17 | g.70175577A>T | CA400860906 | KCNJ2 | c.538A>T (p.Met180Leu) | |
17 | g.70175578T>A | CA400860910 | KCNJ2 | c.539T>A (p.Met180Lys) | |
17 | g.70175578T>C | CA293702918 | KCNJ2 | c.539T>C (p.Met180Thr) | dbSNP gnomAD v4 |
17 | g.70175578T>G | CA400860913 | KCNJ2 | c.539T>G (p.Met180Arg) | |
17 | g.70175578T= | CA2272996614 | KCNJ2 | c.539T= (p.Met180=) | |
17 | g.70175579G>A | CA400860915 | KCNJ2 | c.540G>A (p.Met180Ile) | gnomAD v4 |
17 | g.70175579G>C | CA400860917 | KCNJ2 | c.540G>C (p.Met180Ile) | |
17 | g.70175579G>T | CA400860918 | KCNJ2 | c.540G>T (p.Met180Ile) | COSMIC |
17 | g.70175580G>A | CA400860921 | KCNJ2 | c.541G>A (p.Ala181Thr) | |
17 | g.70175580G>C | CA400860923 | KCNJ2 | c.541G>C (p.Ala181Pro) | |
17 | g.70175580G>T | CA400860924 | KCNJ2 | c.541G>T (p.Ala181Ser) | |
17 | g.70175581C>A | CA400860926 | KCNJ2 | c.542C>A (p.Ala181Asp) | |
17 | g.70175581C>G | CA400860928 | KCNJ2 | c.542C>G (p.Ala181Gly) | |
17 | g.70175581C>T | CA400860930 | KCNJ2 | c.542C>T (p.Ala181Val) | |
17 | g.70175582C>A | CA501700494 | KCNJ2 | c.543C>A (p.Ala181=) | |
17 | g.70175582C>G | CA501700497 | KCNJ2 | c.543C>G (p.Ala181=) | |
17 | g.70175582C>T | CA501700495 | KCNJ2 | c.543C>T (p.Ala181=) | gnomAD v4 |
17 | g.70175583A>C | CA400860934 | KCNJ2 | c.544A>C (p.Lys182Gln) | |
17 | g.70175583A>G | CA400860937 | KCNJ2 | c.544A>G (p.Lys182Glu) | |
17 | g.70175583A>T | CA400860932 | KCNJ2 | c.544A>T (p.Lys182Ter) | |
17 | g.70175584A>C | CA400860943 | KCNJ2 | c.545A>C (p.Lys182Thr) | |
17 | g.70175584A>G | CA400860939 | KCNJ2 | c.545A>G (p.Lys182Arg) | |
17 | g.70175584A>T | CA400860941 | KCNJ2 | c.545A>T (p.Lys182Met) | |
17 | g.70175585G>A | CA501700503 | KCNJ2 | c.546G>A (p.Lys182=) | |
17 | g.70175585G>C | CA400860945 | KCNJ2 | c.546G>C (p.Lys182Asn) | |
17 | g.70175585G>T | CA400860947 | KCNJ2 | c.546G>T (p.Lys182Asn) | |
17 | g.70175586A>C | CA400860950 | KCNJ2 | c.547A>C (p.Met183Leu) | |
17 | g.70175586A>G | CA400860952 | KCNJ2 | c.547A>G (p.Met183Val) | |
17 | g.70175586A>T | CA400860953 | KCNJ2 | c.547A>T (p.Met183Leu) | |
17 | g.70175587T>A | CA400860955 | KCNJ2 | c.548T>A (p.Met183Lys) | |
17 | g.70175587T>C | CA400860957 | KCNJ2 | c.548T>C (p.Met183Thr) | |
17 | g.70175587T>G | CA400860959 | KCNJ2 | c.548T>G (p.Met183Arg) | |
17 | g.70175588G>A | CA400860962 | KCNJ2 | c.549G>A (p.Met183Ile) | |
17 | g.70175588G>C | CA400860963 | KCNJ2 | c.549G>C (p.Met183Ile) | |
17 | g.70175588G>T | CA400860965 | KCNJ2 | c.549G>T (p.Met183Ile) | |
17 | g.70175589G>A | CA400860970 | KCNJ2 | c.550G>A (p.Ala184Thr) | |
17 | g.70175589G>C | CA400860968 | KCNJ2 | c.550G>C (p.Ala184Pro) | |
17 | g.70175589G>T | CA400860966 | KCNJ2 | c.550G>T (p.Ala184Ser) | |
17 | g.70175590C>A | CA400860972 | KCNJ2 | c.551C>A (p.Ala184Glu) | |
17 | g.70175590C>G | CA400860974 | KCNJ2 | c.551C>G (p.Ala184Gly) | |
17 | g.70175590C>T | CA400860975 | KCNJ2 | c.551C>T (p.Ala184Val) | |
17 | g.70175591A>C | CA501700518 | KCNJ2 | c.552A>C (p.Ala184=) | |
17 | g.70175591A>G | CA501700519 | KCNJ2 | c.552A>G (p.Ala184=) | |
17 | g.70175591A>T | CA501700520 | KCNJ2 | c.552A>T (p.Ala184=) | |
17 | g.70175592A>C | CA400860977 | KCNJ2 | c.553A>C (p.Lys185Gln) | |
17 | g.70175592A>G | CA400860978 | KCNJ2 | c.553A>G (p.Lys185Glu) | ClinVar |
17 | g.70175592A>T | CA400860980 | KCNJ2 | c.553A>T (p.Lys185Ter) | |
17 | g.70175593A>C | CA400860983 | KCNJ2 | c.554A>C (p.Lys185Thr) | |
17 | g.70175593A>G | CA400860985 | KCNJ2 | c.554A>G (p.Lys185Arg) | |
17 | g.70175593A>T | CA400860986 | KCNJ2 | c.554A>T (p.Lys185Met) | |
17 | g.70175594G>A | CA501700527 | KCNJ2 | c.555G>A (p.Lys185=) | gnomAD v4 |
17 | g.70175594G>C | CA400860989 | KCNJ2 | c.555G>C (p.Lys185Asn) | |
17 | g.70175594G>T | CA400860990 | KCNJ2 | c.555G>T (p.Lys185Asn) | |
17 | g.70175595C>A | CA400860991 | KCNJ2 | c.556C>A (p.Pro186Thr) | |
17 | g.70175595C>G | CA400860993 | KCNJ2 | c.556C>G (p.Pro186Ala) | |
17 | g.70175595C>T | CA400860994 | KCNJ2 | c.556C>T (p.Pro186Ser) | |
17 | g.70175596C>A | CA400860997 | KCNJ2 | c.557C>A (p.Pro186Gln) | ClinVar dbSNP |
17 | g.70175596C= | CA2272996615 | KCNJ2 | c.557C= (p.Pro186=) | |
17 | g.70175596C>G | CA400860998 | KCNJ2 | c.557C>G (p.Pro186Arg) | |
17 | g.70175596C>T | CA254596 | KCNJ2 | c.557C>T (p.Pro186Leu) | ClinVar dbSNP |
17 | g.70175597A= | CA2272996616 | KCNJ2 | c.558A= (p.Pro186=) | |
17 | g.70175597A>C | CA501700533 | KCNJ2 | c.558A>C (p.Pro186=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175597A>G | CA8738743 | KCNJ2 | c.558A>G (p.Pro186=) | dbSNP ExAC gnomAD v2 |
17 | g.70175597A>T | CA501700534 | KCNJ2 | c.558A>T (p.Pro186=) | |
17 | g.70175598A>C | CA400861000 | KCNJ2 | c.559A>C (p.Lys187Gln) | |
17 | g.70175598A>G | CA400861001 | KCNJ2 | c.559A>G (p.Lys187Glu) | |
17 | g.70175598A>T | CA400861003 | KCNJ2 | c.559A>T (p.Lys187Ter) | |
17 | g.70175599A>C | CA400861005 | KCNJ2 | c.560A>C (p.Lys187Thr) | |
17 | g.70175599A>G | CA400861007 | KCNJ2 | c.560A>G (p.Lys187Arg) | |
17 | g.70175599A>T | CA400861009 | KCNJ2 | c.560A>T (p.Lys187Met) | |
17 | g.70175600G>A | CA501700539 | KCNJ2 | c.561G>A (p.Lys187=) | |
17 | g.70175600G>C | CA400861011 | KCNJ2 | c.561G>C (p.Lys187Asn) | |
17 | g.70175600G>T | CA400861012 | KCNJ2 | c.561G>T (p.Lys187Asn) | |
17 | g.70175601A>C | CA400861015 | KCNJ2 | c.562A>C (p.Lys188Gln) | |
17 | g.70175601A>G | CA400861017 | KCNJ2 | c.562A>G (p.Lys188Glu) | |
17 | g.70175601A>T | CA400861019 | KCNJ2 | c.562A>T (p.Lys188Ter) | gnomAD v4 |
17 | g.70175602A>C | CA400861024 | KCNJ2 | c.563A>C (p.Lys188Thr) | |
17 | g.70175602A>G | CA400861023 | KCNJ2 | c.563A>G (p.Lys188Arg) | |
17 | g.70175602A>T | CA400861022 | KCNJ2 | c.563A>T (p.Lys188Met) | COSMIC |
17 | g.70175603G>A | CA501700540 | KCNJ2 | c.564G>A (p.Lys188=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175603G>C | CA400861025 | KCNJ2 | c.564G>C (p.Lys188Asn) | |
17 | g.70175603G= | CA2272996617 | KCNJ2 | c.564G= (p.Lys188=) | |
17 | g.70175603G>T | CA400861027 | KCNJ2 | c.564G>T (p.Lys188Asn) | gnomAD v4 |
17 | g.70175604A= | CA2272996618 | KCNJ2 | c.565A= (p.Arg189=) | |
17 | g.70175604A>C | CA501700544 | KCNJ2 | c.565A>C (p.Arg189=) | |
17 | g.70175604A>G | CA400861029 | KCNJ2 | c.565A>G (p.Arg189Gly) | ClinVar dbSNP |
17 | g.70175604A>T | CA400861031 | KCNJ2 | c.565A>T (p.Arg189Ter) | |
17 | g.70175605G>A | CA302035 | KCNJ2 | c.566G>A (p.Arg189Lys) | ClinVar dbSNP |
17 | g.70175605G>C | CA400861034 | KCNJ2 | c.566G>C (p.Arg189Thr) | ClinVar dbSNP |
17 | g.70175605G= | CA2272996619 | KCNJ2 | c.566G= (p.Arg189=) | |
17 | g.70175605G>T | CA302038 | KCNJ2 | c.566G>T (p.Arg189Ile) | ClinVar dbSNP |
17 | g.70175606A>C | CA400861038 | KCNJ2 | c.567A>C (p.Arg189Ser) | |
17 | g.70175606A>G | CA501700554 | KCNJ2 | c.567A>G (p.Arg189=) | |
17 | g.70175606A>T | CA400861039 | KCNJ2 | c.567A>T (p.Arg189Ser) | |
17 | g.70175607A>C | CA400861040 | KCNJ2 | c.568A>C (p.Asn190His) | |
17 | g.70175607A>G | CA400861042 | KCNJ2 | c.568A>G (p.Asn190Asp) | |
17 | g.70175607A>T | CA400861043 | KCNJ2 | c.568A>T (p.Asn190Tyr) | |
17 | g.70175608A= | CA2272996620 | KCNJ2 | c.569A= (p.Asn190=) | |
17 | g.70175608A>C | CA400861049 | KCNJ2 | c.569A>C (p.Asn190Thr) | |
17 | g.70175608A>G | CA400861047 | KCNJ2 | c.569A>G (p.Asn190Ser) | |
17 | g.70175608A>T | CA400861045 | KCNJ2 | c.569A>T (p.Asn190Ile) | ClinVar dbSNP |
17 | g.70175609C>A | CA400861051 | KCNJ2 | c.570C>A (p.Asn190Lys) | |
17 | g.70175609C= | CA2272996621 | KCNJ2 | c.570C= (p.Asn190=) | |
17 | g.70175609C>G | CA400861053 | KCNJ2 | c.570C>G (p.Asn190Lys) | |
17 | g.70175609C>T | CA8738744 | KCNJ2 | c.570C>T (p.Asn190=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175610G>A | CA400861056 | KCNJ2 | c.571G>A (p.Glu191Lys) | gnomAD v4 |
17 | g.70175610G>C | CA400861058 | KCNJ2 | c.571G>C (p.Glu191Gln) | |
17 | g.70175610G>T | CA400861060 | KCNJ2 | c.571G>T (p.Glu191Ter) | |
17 | g.70175611A>C | CA400861066 | KCNJ2 | c.572A>C (p.Glu191Ala) | |
17 | g.70175611A>G | CA400861062 | KCNJ2 | c.572A>G (p.Glu191Gly) | |
17 | g.70175611A>T | CA400861065 | KCNJ2 | c.572A>T (p.Glu191Val) | |
17 | g.70175612G>A | CA501700567 | KCNJ2 | c.573G>A (p.Glu191=) | |
17 | g.70175612G>C | CA400861069 | KCNJ2 | c.573G>C (p.Glu191Asp) | |
17 | g.70175612G>T | CA400861071 | KCNJ2 | c.573G>T (p.Glu191Asp) | |
17 | g.70175613A= | CA2272996622 | KCNJ2 | c.574A= (p.Thr192=) | |
17 | g.70175613A>C | CA400861073 | KCNJ2 | c.574A>C (p.Thr192Pro) | |
17 | g.70175613A>G | CA329687 | KCNJ2 | c.574A>G (p.Thr192Ala) | ClinVar dbSNP |
17 | g.70175613A>T | CA400861077 | KCNJ2 | c.574A>T (p.Thr192Ser) | |
17 | g.70175614C>A | CA400861083 | KCNJ2 | c.575C>A (p.Thr192Asn) | |
17 | g.70175614C= | CA2272996623 | KCNJ2 | c.575C= (p.Thr192=) | |
17 | g.70175614C>G | CA400861079 | KCNJ2 | c.575C>G (p.Thr192Ser) | |
17 | g.70175614C>T | CA329690 | KCNJ2 | c.575C>T (p.Thr192Ile) | ClinVar dbSNP |
17 | g.70175615T>A | CA501700576 | KCNJ2 | c.576T>A (p.Thr192=) | |
17 | g.70175615T>C | CA501700577 | KCNJ2 | c.576T>C (p.Thr192=) | |
17 | g.70175615T>G | CA501700578 | KCNJ2 | c.576T>G (p.Thr192=) | |
17 | g.70175616C>A | CA400861086 | KCNJ2 | c.577C>A (p.Leu193Ile) | |
17 | g.70175616C>G | CA400861087 | KCNJ2 | c.577C>G (p.Leu193Val) | |
17 | g.70175616C>T | CA400861089 | KCNJ2 | c.577C>T (p.Leu193Phe) | |
17 | g.70175617T>A | CA400861091 | KCNJ2 | c.578T>A (p.Leu193His) | ClinVar dbSNP |
17 | g.70175617T>C | CA400861093 | KCNJ2 | c.578T>C (p.Leu193Pro) | ClinVar dbSNP |
17 | g.70175617T>G | CA400861095 | KCNJ2 | c.578T>G (p.Leu193Arg) | ClinVar |
17 | g.70175617T= | CA2272996624 | KCNJ2 | c.578T= (p.Leu193=) | |
17 | g.70175618T>A | CA501700583 | KCNJ2 | c.579T>A (p.Leu193=) | gnomAD v4 |
17 | g.70175618T>C | CA501700584 | KCNJ2 | c.579T>C (p.Leu193=) | dbSNP |
17 | g.70175618T>G | CA8738745 | KCNJ2 | c.579T>G (p.Leu193=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175618T= | CA2272996625 | KCNJ2 | c.579T= (p.Leu193=) | |
17 | g.70175619G>A | CA400861099 | KCNJ2 | c.580G>A (p.Val194Ile) | |
17 | g.70175619G>C | CA400861101 | KCNJ2 | c.580G>C (p.Val194Leu) | |
17 | g.70175619G>T | CA400861103 | KCNJ2 | c.580G>T (p.Val194Phe) | ClinVar |
17 | g.70175620T>A | CA400861105 | KCNJ2 | c.581T>A (p.Val194Asp) | |
17 | g.70175620T>C | CA400861107 | KCNJ2 | c.581T>C (p.Val194Ala) | |
17 | g.70175620T>G | CA400861110 | KCNJ2 | c.581T>G (p.Val194Gly) | |
17 | g.70175621C>A | CA501700591 | KCNJ2 | c.582C>A (p.Val194=) | |
17 | g.70175621C= | CA2272996626 | KCNJ2 | c.582C= (p.Val194=) | |
17 | g.70175621C>G | CA501700593 | KCNJ2 | c.582C>G (p.Val194=) | |
17 | g.70175621C>T | CA501700595 | KCNJ2 | c.582C>T (p.Val194=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175622T>A | CA400861112 | KCNJ2 | c.583T>A (p.Phe195Ile) | |
17 | g.70175622T>C | CA400861115 | KCNJ2 | c.583T>C (p.Phe195Leu) | |
17 | g.70175622T>G | CA400861114 | KCNJ2 | c.583T>G (p.Phe195Val) | |
17 | g.70175623T>A | CA400861119 | KCNJ2 | c.584T>A (p.Phe195Tyr) | |
17 | g.70175623T>C | CA400861121 | KCNJ2 | c.584T>C (p.Phe195Ser) | |
17 | g.70175623T>G | CA400861123 | KCNJ2 | c.584T>G (p.Phe195Cys) | |
17 | g.70175624C>A | CA400861124 | KCNJ2 | c.585C>A (p.Phe195Leu) | |
17 | g.70175624C= | CA2272996627 | KCNJ2 | c.585C= (p.Phe195=) | |
17 | g.70175624C>G | CA400861126 | KCNJ2 | c.585C>G (p.Phe195Leu) | |
17 | g.70175624C>T | CA8738746 | KCNJ2 | c.585C>T (p.Phe195=) | ClinVar dbSNP ExAC gnomAD v2 |
17 | g.70175625A>C | CA400861134 | KCNJ2 | c.586A>C (p.Ser196Arg) | ClinVar |
17 | g.70175625A>G | CA400861129 | KCNJ2 | c.586A>G (p.Ser196Gly) | |
17 | g.70175625A>T | CA400861131 | KCNJ2 | c.586A>T (p.Ser196Cys) | |
17 | g.70175626G>A | CA400861144 | KCNJ2 | c.587G>A (p.Ser196Asn) | |
17 | g.70175626G>C | CA400861145 | KCNJ2 | c.587G>C (p.Ser196Thr) | |
17 | g.70175626G>T | CA400861147 | KCNJ2 | c.587G>T (p.Ser196Ile) | |
17 | g.70175627T>A | CA400861150 | KCNJ2 | c.588T>A (p.Ser196Arg) | |
17 | g.70175627T>C | CA501700604 | KCNJ2 | c.588T>C (p.Ser196=) | |
17 | g.70175627T>G | CA400861152 | KCNJ2 | c.588T>G (p.Ser196Arg) | |
17 | g.70175628C>A | CA400861154 | KCNJ2 | c.589C>A (p.His197Asn) | |
17 | g.70175628C>G | CA400861157 | KCNJ2 | c.589C>G (p.His197Asp) | |
17 | g.70175628C>T | CA400861155 | KCNJ2 | c.589C>T (p.His197Tyr) | |
17 | g.70175629A>C | CA400861159 | KCNJ2 | c.590A>C (p.His197Pro) | |
17 | g.70175629A>G | CA400861161 | KCNJ2 | c.590A>G (p.His197Arg) | |
17 | g.70175629A>T | CA400861162 | KCNJ2 | c.590A>T (p.His197Leu) | |
17 | g.70175630C>A | CA400861164 | KCNJ2 | c.591C>A (p.His197Gln) | |
17 | g.70175630C= | CA2272996628 | KCNJ2 | c.591C= (p.His197=) | |
17 | g.70175630C>G | CA400861165 | KCNJ2 | c.591C>G (p.His197Gln) | |
17 | g.70175630C>T | CA501700616 | KCNJ2 | c.591C>T (p.His197=) | ClinVar dbSNP gnomAD v4 COSMIC |
17 | g.70175631A>C | CA400861167 | KCNJ2 | c.592A>C (p.Asn198His) | |
17 | g.70175631A>G | CA400861169 | KCNJ2 | c.592A>G (p.Asn198Asp) | |
17 | g.70175631A>T | CA400861170 | KCNJ2 | c.592A>T (p.Asn198Tyr) |