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.17387528C>A | CA473515462 | KCNJ11 | c.303G>T (p.Val101=) c.564G>T (p.Val188=) n.722G>T | |
| 11 | g.17387528C= | CA1955119299 | KCNJ11 | c.303G= (p.Val101=) c.564G= (p.Val188=) n.722G= | |
| 11 | g.17387528C>G | CA473515463 | KCNJ11 | c.303G>C (p.Val101=) c.564G>C (p.Val188=) n.722G>C | |
| 11 | g.17387528C>T | CA473515464 | KCNJ11 | c.303G>A (p.Val101=) c.564G>A (p.Val188=) n.722G>A | dbSNP gnomAD v2 |
| 11 | g.17387529A>C | CA379772636 | KCNJ11 | c.302T>G (p.Val101Gly) c.563T>G (p.Val188Gly) n.721T>G | |
| 11 | g.17387529A>G | CA379772639 | KCNJ11 | c.302T>C (p.Val101Ala) c.563T>C (p.Val188Ala) n.721T>C | |
| 11 | g.17387529A>T | CA379772646 | KCNJ11 | c.302T>A (p.Val101Glu) c.563T>A (p.Val188Glu) n.721T>A | |
| 11 | g.17387530C>A | CA379772649 | KCNJ11 | c.301G>T (p.Val101Leu) c.562G>T (p.Val188Leu) n.720G>T | gnomAD v4 |
| 11 | g.17387530C>G | CA379772654 | KCNJ11 | c.301G>C (p.Val101Leu) c.562G>C (p.Val188Leu) n.720G>C | |
| 11 | g.17387530C>T | CA379772657 | KCNJ11 | c.301G>A (p.Val101Met) c.562G>A (p.Val188Met) n.720G>A | gnomAD v4 |
| 11 | g.17387531C>A | CA473515467 | KCNJ11 | c.300G>T (p.Ala100=) c.561G>T (p.Ala187=) n.719G>T | |
| 11 | g.17387531C= | CA1955119300 | KCNJ11 | c.300G= (p.Ala100=) c.561G= (p.Ala187=) n.719G= | |
| 11 | g.17387531C>G | CA473515469 | KCNJ11 | c.300G>C (p.Ala100=) c.561G>C (p.Ala187=) n.719G>C | |
| 11 | g.17387531C>T | CA473515468 | KCNJ11 | c.300G>A (p.Ala100=) c.561G>A (p.Ala187=) n.719G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387532G>A | CA379772664 | KCNJ11 | c.299C>T (p.Ala100Val) c.560C>T (p.Ala187Val) n.718C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387532G>C | CA379772673 | KCNJ11 | c.299C>G (p.Ala100Gly) c.560C>G (p.Ala187Gly) n.718C>G | |
| 11 | g.17387532G= | CA1955119301 | KCNJ11 | c.299C= (p.Ala100=) c.560C= (p.Ala187=) n.718C= | |
| 11 | g.17387532G>T | CA379772677 | KCNJ11 | c.299C>A (p.Ala100Glu) c.560C>A (p.Ala187Glu) n.718C>A | gnomAD v4 |
| 11 | g.17387533C>A | CA379772689 | KCNJ11 | c.298G>T (p.Ala100Ser) c.559G>T (p.Ala187Ser) n.717G>T | |
| 11 | g.17387533C= | CA1955119302 | KCNJ11 | c.298G= (p.Ala100=) c.559G= (p.Ala187=) n.717G= | |
| 11 | g.17387533C>G | CA379772692 | KCNJ11 | c.298G>C (p.Ala100Pro) c.559G>C (p.Ala187Pro) n.717G>C | |
| 11 | g.17387533C>T | CA379772684 | KCNJ11 | c.298G>A (p.Ala100Thr) c.559G>A (p.Ala187Thr) n.717G>A | dbSNP |
| 11 | g.17387534A= | CA1955119303 | KCNJ11 | c.297T= (p.His99=) c.558T= (p.His186=) n.716T= | |
| 11 | g.17387534A>C | CA379772696 | KCNJ11 | c.297T>G (p.His99Gln) c.558T>G (p.His186Gln) n.716T>G | |
| 11 | g.17387534A>G | CA473515471 | KCNJ11 | c.297T>C (p.His99=) c.558T>C (p.His186=) n.716T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387534A>T | CA379772699 | KCNJ11 | c.297T>A (p.His99Gln) c.558T>A (p.His186Gln) n.716T>A | |
| 11 | g.17387535T>A | CA379772703 | KCNJ11 | c.296A>T (p.His99Leu) c.557A>T (p.His186Leu) n.715A>T | |
| 11 | g.17387535T>C | CA379772706 | KCNJ11 | c.296A>G (p.His99Arg) c.557A>G (p.His186Arg) n.715A>G | |
| 11 | g.17387535T>G | CA379772710 | KCNJ11 | c.296A>C (p.His99Pro) c.557A>C (p.His186Pro) n.715A>C | |
| 11 | g.17387536G>A | CA379772721 | KCNJ11 | c.295C>T (p.His99Tyr) c.556C>T (p.His186Tyr) n.714C>T | ClinVar gnomAD v4 |
| 11 | g.17387536G>C | CA379772714 | KCNJ11 | c.295C>G (p.His99Asp) c.556C>G (p.His186Asp) n.714C>G | ClinVar dbSNP |
| 11 | g.17387536G>T | CA379772720 | KCNJ11 | c.295C>A (p.His99Asn) c.556C>A (p.His186Asn) n.714C>A | gnomAD v4 |
| 11 | g.17387537C>A | CA379772722 | KCNJ11 | c.294G>T (p.Lys98Asn) c.555G>T (p.Lys185Asn) n.713G>T | |
| 11 | g.17387537C>G | CA379772723 | KCNJ11 | c.294G>C (p.Lys98Asn) c.555G>C (p.Lys185Asn) n.713G>C | |
| 11 | g.17387537C>T | CA473515472 | KCNJ11 | c.294G>A (p.Lys98=) c.555G>A (p.Lys185=) n.713G>A | |
| 11 | g.17387538T>A | CA379772726 | KCNJ11 | c.293A>T (p.Lys98Met) c.554A>T (p.Lys185Met) n.712A>T | |
| 11 | g.17387538T>C | CA379772729 | KCNJ11 | c.293A>G (p.Lys98Arg) c.554A>G (p.Lys185Arg) n.712A>G | |
| 11 | g.17387538T>G | CA379772730 | KCNJ11 | c.293A>C (p.Lys98Thr) c.554A>C (p.Lys185Thr) n.712A>C | |
| 11 | g.17387539T>A | CA379772737 | KCNJ11 | c.292A>T (p.Lys98Ter) c.553A>T (p.Lys185Ter) n.711A>T | |
| 11 | g.17387539T>C | CA379772734 | KCNJ11 | c.292A>G (p.Lys98Glu) c.553A>G (p.Lys185Glu) n.711A>G | |
| 11 | g.17387539T>G | CA379772731 | KCNJ11 | c.292A>C (p.Lys98Gln) c.553A>C (p.Lys185Gln) n.711A>C | |
| 11 | g.17387540G>A | CA473515476 | KCNJ11 | c.291C>T (p.Ser97=) c.552C>T (p.Ser184=) n.710C>T | ClinVar gnomAD v4 |
| 11 | g.17387540G>C | CA379772741 | KCNJ11 | c.291C>G (p.Ser97Arg) c.552C>G (p.Ser184Arg) n.710C>G | |
| 11 | g.17387540G>T | CA379772744 | KCNJ11 | c.291C>A (p.Ser97Arg) c.552C>A (p.Ser184Arg) n.710C>A | |
| 11 | g.17387541C>A | CA379772751 | KCNJ11 | c.290G>T (p.Ser97Ile) c.551G>T (p.Ser184Ile) n.709G>T | |
| 11 | g.17387541C>G | CA379772753 | KCNJ11 | c.290G>C (p.Ser97Thr) c.551G>C (p.Ser184Thr) n.709G>C | |
| 11 | g.17387541C>T | CA379772763 | KCNJ11 | c.290G>A (p.Ser97Asn) c.551G>A (p.Ser184Asn) n.709G>A | |
| 11 | g.17387542T>A | CA379772770 | KCNJ11 | c.289A>T (p.Ser97Cys) c.550A>T (p.Ser184Cys) n.708A>T | |
| 11 | g.17387542T>C | CA379772773 | KCNJ11 | c.289A>G (p.Ser97Gly) c.550A>G (p.Ser184Gly) n.708A>G | |
| 11 | g.17387542T>G | CA379772774 | KCNJ11 | c.289A>C (p.Ser97Arg) c.550A>C (p.Ser184Arg) n.708A>C | |
| 11 | g.17387543G>A | CA473515480 | KCNJ11 | c.288C>T (p.Phe96=) c.549C>T (p.Phe183=) n.707C>T | |
| 11 | g.17387543G>C | CA379772775 | KCNJ11 | c.288C>G (p.Phe96Leu) c.549C>G (p.Phe183Leu) n.707C>G | |
| 11 | g.17387543G>T | CA379772776 | KCNJ11 | c.288C>A (p.Phe96Leu) c.549C>A (p.Phe183Leu) n.707C>A | gnomAD v4 |
| 11 | g.17387544A>C | CA379772780 | KCNJ11 | c.287T>G (p.Phe96Cys) c.548T>G (p.Phe183Cys) n.706T>G | |
| 11 | g.17387544A>G | CA379772784 | KCNJ11 | c.287T>C (p.Phe96Ser) c.548T>C (p.Phe183Ser) n.706T>C | |
| 11 | g.17387544A>T | CA379772792 | KCNJ11 | c.287T>A (p.Phe96Tyr) c.548T>A (p.Phe183Tyr) n.706T>A | |
| 11 | g.17387545A>C | CA379772807 | KCNJ11 | c.286T>G (p.Phe96Val) c.547T>G (p.Phe183Val) n.705T>G | |
| 11 | g.17387545A>G | CA379772805 | KCNJ11 | c.286T>C (p.Phe96Leu) c.547T>C (p.Phe183Leu) n.705T>C | |
| 11 | g.17387545A>T | CA379772799 | KCNJ11 | c.286T>A (p.Phe96Ile) c.547T>A (p.Phe183Ile) n.705T>A | |
| 11 | g.17387546G>A | CA473515485 | KCNJ11 | c.285C>T (p.Ile95=) c.546C>T (p.Ile182=) n.704C>T | |
| 11 | g.17387546G>C | CA379772812 | KCNJ11 | c.285C>G (p.Ile95Met) c.546C>G (p.Ile182Met) n.704C>G | |
| 11 | g.17387546G>T | CA473515484 | KCNJ11 | c.285C>A (p.Ile95=) c.546C>A (p.Ile182=) n.704C>A | |
| 11 | g.17387547A>C | CA379772821 | KCNJ11 | c.284T>G (p.Ile95Ser) c.545T>G (p.Ile182Ser) n.703T>G | |
| 11 | g.17387547A>G | CA379772826 | KCNJ11 | c.284T>C (p.Ile95Thr) c.545T>C (p.Ile182Thr) n.703T>C | |
| 11 | g.17387547A>T | CA379772831 | KCNJ11 | c.284T>A (p.Ile95Asn) c.545T>A (p.Ile182Asn) n.703T>A | |
| 11 | g.17387548T>A | CA379772851 | KCNJ11 | c.283A>T (p.Ile95Phe) c.544A>T (p.Ile182Phe) n.702A>T | |
| 11 | g.17387548T>C | CA341722 | KCNJ11 | c.283A>G (p.Ile95Val) c.544A>G (p.Ile182Val) n.702A>G | ClinVar dbSNP |
| 11 | g.17387548T>G | CA379772852 | KCNJ11 | c.283A>C (p.Ile95Leu) c.544A>C (p.Ile182Leu) n.702A>C | |
| 11 | g.17387548T= | CA1955119304 | KCNJ11 | c.283A= (p.Ile95=) c.544A= (p.Ile182=) n.702A= | |
| 11 | g.17387549G>A | CA473515488 | KCNJ11 | c.282C>T (p.Leu94=) c.543C>T (p.Leu181=) n.701C>T | gnomAD v4 |
| 11 | g.17387549G>C | CA473515489 | KCNJ11 | c.282C>G (p.Leu94=) c.543C>G (p.Leu181=) n.701C>G | |
| 11 | g.17387549G>T | CA473515490 | KCNJ11 | c.282C>A (p.Leu94=) c.543C>A (p.Leu181=) n.701C>A | |
| 11 | g.17387550A>C | CA379772854 | KCNJ11 | c.281T>G (p.Leu94Arg) c.542T>G (p.Leu181Arg) n.700T>G | |
| 11 | g.17387550A>G | CA379772857 | KCNJ11 | c.281T>C (p.Leu94Pro) c.542T>C (p.Leu181Pro) n.700T>C | |
| 11 | g.17387550A>T | CA379772859 | KCNJ11 | c.281T>A (p.Leu94His) c.542T>A (p.Leu181His) n.700T>A | |
| 11 | g.17387551G>A | CA379772866 | KCNJ11 | c.280C>T (p.Leu94Phe) c.541C>T (p.Leu181Phe) n.699C>T | ClinVar dbSNP |
| 11 | g.17387551G>C | CA379772870 | KCNJ11 | c.280C>G (p.Leu94Val) c.541C>G (p.Leu181Val) n.699C>G | |
| 11 | g.17387551G= | CA1955119305 | KCNJ11 | c.280C= (p.Leu94=) c.541C= (p.Leu181=) n.699C= | |
| 11 | g.17387551G>T | CA379772874 | KCNJ11 | c.280C>A (p.Leu94Ile) c.541C>A (p.Leu181Ile) n.699C>A | gnomAD v4 |
| 11 | g.17387552G>A | CA473515491 | KCNJ11 | c.279C>T (p.Thr93=) c.540C>T (p.Thr180=) n.698C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387552G>C | CA5902284 | KCNJ11 | c.279C>G (p.Thr93=) c.540C>G (p.Thr180=) n.698C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387552G= | CA1955119306 | KCNJ11 | c.279C= (p.Thr93=) c.540C= (p.Thr180=) n.698C= | |
| 11 | g.17387552G>T | CA473515492 | KCNJ11 | c.279C>A (p.Thr93=) c.540C>A (p.Thr180=) n.698C>A | gnomAD v4 |
| 11 | g.17387553G>A | CA379772885 | KCNJ11 | c.278C>T (p.Thr93Ile) c.539C>T (p.Thr180Ile) n.697C>T | gnomAD v4 |
| 11 | g.17387553G>C | CA379772891 | KCNJ11 | c.278C>G (p.Thr93Ser) c.539C>G (p.Thr180Ser) n.697C>G | |
| 11 | g.17387553G= | CA1955119307 | KCNJ11 | c.278C= (p.Thr93=) c.539C= (p.Thr180=) n.697C= | |
| 11 | g.17387553G>T | CA379772882 | KCNJ11 | c.278C>A (p.Thr93Asn) c.539C>A (p.Thr180Asn) n.697C>A | ClinVar dbSNP |
| 11 | g.17387554T>A | CA379772896 | KCNJ11 | c.277A>T (p.Thr93Ser) c.538A>T (p.Thr180Ser) n.696A>T | |
| 11 | g.17387554T>C | CA379772901 | KCNJ11 | c.277A>G (p.Thr93Ala) c.538A>G (p.Thr180Ala) n.696A>G | |
| 11 | g.17387554T>G | CA379772904 | KCNJ11 | c.277A>C (p.Thr93Pro) c.538A>C (p.Thr180Pro) n.696A>C | |
| 11 | g.17387555C>A | CA379772905 | KCNJ11 | c.276G>T (p.Glu92Asp) c.537G>T (p.Glu179Asp) n.695G>T | |
| 11 | g.17387555C>G | CA379772906 | KCNJ11 | c.276G>C (p.Glu92Asp) c.537G>C (p.Glu179Asp) n.695G>C | |
| 11 | g.17387555C>T | CA473515494 | KCNJ11 | c.276G>A (p.Glu92=) c.537G>A (p.Glu179=) n.695G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387556T>A | CA379772914 | KCNJ11 | c.275A>T (p.Glu92Val) c.536A>T (p.Glu179Val) n.694A>T | |
| 11 | g.17387556T>C | CA379772911 | KCNJ11 | c.275A>G (p.Glu92Gly) c.536A>G (p.Glu179Gly) n.694A>G | |
| 11 | g.17387556T>G | CA172332 | KCNJ11 | c.275A>C (p.Glu92Ala) c.536A>C (p.Glu179Ala) n.694A>C | ClinVar dbSNP |
| 11 | g.17387556T= | CA1955119308 | KCNJ11 | c.275A= (p.Glu92=) c.536A= (p.Glu179=) n.694A= | |
| 11 | g.17387557C>A | CA379772919 | KCNJ11 | c.274G>T (p.Glu92Ter) c.535G>T (p.Glu179Ter) n.693G>T | |
| 11 | g.17387557C>G | CA379772923 | KCNJ11 | c.274G>C (p.Glu92Gln) c.535G>C (p.Glu179Gln) n.693G>C | |
| 11 | g.17387557C>T | CA379772927 | KCNJ11 | c.274G>A (p.Glu92Lys) c.535G>A (p.Glu179Lys) n.693G>A | |
| 11 | g.17387558A>C | CA473515495 | KCNJ11 | c.273T>G (p.Ala91=) c.534T>G (p.Ala178=) n.692T>G | |
| 11 | g.17387558A>G | CA473515497 | KCNJ11 | c.273T>C (p.Ala91=) c.534T>C (p.Ala178=) n.692T>C | |
| 11 | g.17387558A>T | CA473515496 | KCNJ11 | c.273T>A (p.Ala91=) c.534T>A (p.Ala178=) n.692T>A | |
| 11 | g.17387559G>A | CA379772933 | KCNJ11 | c.272C>T (p.Ala91Val) c.533C>T (p.Ala178Val) n.691C>T | |
| 11 | g.17387559G>C | CA379772935 | KCNJ11 | c.272C>G (p.Ala91Gly) c.533C>G (p.Ala178Gly) n.691C>G | |
| 11 | g.17387559G>T | CA379772940 | KCNJ11 | c.272C>A (p.Ala91Asp) c.533C>A (p.Ala178Asp) n.691C>A | gnomAD v4 |
| 11 | g.17387559_17387560delinsGC | CA1955119309 | KCNJ11 | c.271_272delinsGC (p.Ala91=) c.532_533delinsGC (p.Ala178=) n.690_691delinsGC | |
| 11 | g.17387560C>A | CA379772947 | KCNJ11 | c.271G>T (p.Ala91Ser) c.532G>T (p.Ala178Ser) n.690G>T | |
| 11 | g.17387560C= | CA1955119310 | KCNJ11 | c.271G= (p.Ala91=) c.532G= (p.Ala178=) n.690G= | |
| 11 | g.17387560C>G | CA379772956 | KCNJ11 | c.271G>C (p.Ala91Pro) c.532G>C (p.Ala178Pro) n.690G>C | |
| 11 | g.17387560C>T | CA5902285 | KCNJ11 | c.271G>A (p.Ala91Thr) c.532G>A (p.Ala178Thr) n.690G>A | dbSNP ExAC gnomAD v2 COSMIC |
| 11 | g.17387562del | CA658656127 | KCNJ11 | c.271del (p.Ala91LeufsTer11) c.532del (p.Ala178LeufsTer11) n.690del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387561C>A | CA379772962 | KCNJ11 | c.270G>T (p.Arg90Ser) c.531G>T (p.Arg177Ser) n.689G>T | |
| 11 | g.17387561C>G | CA379772966 | KCNJ11 | c.270G>C (p.Arg90Ser) c.531G>C (p.Arg177Ser) n.689G>C | |
| 11 | g.17387561C>T | CA473515498 | KCNJ11 | c.270G>A (p.Arg90=) c.531G>A (p.Arg177=) n.689G>A | |
| 11 | g.17387562C>A | CA379772970 | KCNJ11 | c.269G>T (p.Arg90Met) c.530G>T (p.Arg177Met) n.688G>T | |
| 11 | g.17387562C>G | CA379772976 | KCNJ11 | c.269G>C (p.Arg90Thr) c.530G>C (p.Arg177Thr) n.688G>C | |
| 11 | g.17387562C>T | CA379772978 | KCNJ11 | c.269G>A (p.Arg90Lys) c.530G>A (p.Arg177Lys) n.688G>A | |
| 11 | g.17387563T>A | CA379772983 | KCNJ11 | c.268A>T (p.Arg90Trp) c.529A>T (p.Arg177Trp) n.687A>T | |
| 11 | g.17387563T>C | CA379772987 | KCNJ11 | c.268A>G (p.Arg90Gly) c.529A>G (p.Arg177Gly) n.687A>G | |
| 11 | g.17387563T>G | CA473515499 | KCNJ11 | c.268A>C (p.Arg90=) c.529A>C (p.Arg177=) n.687A>C | ClinVar |
| 11 | g.17387564G>A | CA473515500 | KCNJ11 | c.267C>T (p.Arg89=) c.528C>T (p.Arg176=) n.686C>T | |
| 11 | g.17387564G>C | CA473515501 | KCNJ11 | c.267C>G (p.Arg89=) c.528C>G (p.Arg176=) n.686C>G | |
| 11 | g.17387564G= | CA1955119311 | KCNJ11 | c.267C= (p.Arg89=) c.528C= (p.Arg176=) n.686C= | |
| 11 | g.17387564G>T | CA473515502 | KCNJ11 | c.267C>A (p.Arg89=) c.528C>A (p.Arg176=) n.686C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387565C>A | CA379772992 | KCNJ11 | c.266G>T (p.Arg89Leu) c.527G>T (p.Arg176Leu) n.685G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387565C= | CA1955119312 | KCNJ11 | c.266G= (p.Arg89=) c.527G= (p.Arg176=) n.685G= | |
| 11 | g.17387565C>G | CA379772999 | KCNJ11 | c.266G>C (p.Arg89Pro) c.527G>C (p.Arg176Pro) n.685G>C | |
| 11 | g.17387565C>T | CA379773008 | KCNJ11 | c.266G>A (p.Arg89His) c.527G>A (p.Arg176His) n.685G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387566G>A | CA205789 | KCNJ11 | c.265C>T (p.Arg89Cys) c.526C>T (p.Arg176Cys) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387566G>C | CA379773015 | KCNJ11 | c.265C>G (p.Arg89Gly) c.526C>G (p.Arg176Gly) n.684C>G | ClinVar |
| 11 | g.17387566G= | CA1955119313 | KCNJ11 | c.265C= (p.Arg89=) c.526C= (p.Arg176=) n.684C= | |
| 11 | g.17387566G>T | CA379773013 | KCNJ11 | c.265C>A (p.Arg89Ser) c.526C>A (p.Arg176Ser) n.684C>A | |
| 11 | g.17387567G>A | CA218399854 | KCNJ11 | c.264C>T (p.His88=) c.525C>T (p.His175=) n.683C>T | ClinVar dbSNP |
| 11 | g.17387567G>C | CA379773029 | KCNJ11 | c.264C>G (p.His88Gln) c.525C>G (p.His175Gln) n.683C>G | |
| 11 | g.17387567G= | CA1955119314 | KCNJ11 | c.264C= (p.His88=) c.525C= (p.His175=) n.683C= | |
| 11 | g.17387567G>T | CA10630460 | KCNJ11 | c.264C>A (p.His88Gln) c.525C>A (p.His175Gln) n.683C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387568T>A | CA379773037 | KCNJ11 | c.263A>T (p.His88Leu) c.524A>T (p.His175Leu) n.682A>T | |
| 11 | g.17387568T>C | CA379773038 | KCNJ11 | c.263A>G (p.His88Arg) c.524A>G (p.His175Arg) n.682A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387568T>G | CA379773044 | KCNJ11 | c.263A>C (p.His88Pro) c.524A>C (p.His175Pro) n.682A>C | |
| 11 | g.17387568T= | CA1955119315 | KCNJ11 | c.263A= (p.His88=) c.524A= (p.His175=) n.682A= | |
| 11 | g.17387569G>A | CA379773050 | KCNJ11 | c.262C>T (p.His88Tyr) c.523C>T (p.His175Tyr) n.681C>T | |
| 11 | g.17387569G>C | CA379773051 | KCNJ11 | c.262C>G (p.His88Asp) c.523C>G (p.His175Asp) n.681C>G | |
| 11 | g.17387569G>T | CA379773054 | KCNJ11 | c.262C>A (p.His88Asn) c.523C>A (p.His175Asn) n.681C>A | |
| 11 | g.17387570G>A | CA473515503 | KCNJ11 | c.261C>T (p.Ala87=) c.522C>T (p.Ala174=) n.680C>T | gnomAD v4 COSMIC |
| 11 | g.17387570G>C | CA473515504 | KCNJ11 | c.261C>G (p.Ala87=) c.522C>G (p.Ala174=) n.680C>G | |
| 11 | g.17387570G>T | CA473515505 | KCNJ11 | c.261C>A (p.Ala87=) c.522C>A (p.Ala174=) n.680C>A | COSMIC |
| 11 | g.17387571G>A | CA379773067 | KCNJ11 | c.260C>T (p.Ala87Val) c.521C>T (p.Ala174Val) n.679C>T | |
| 11 | g.17387571G>C | CA172330 | KCNJ11 | c.260C>G (p.Ala87Gly) c.521C>G (p.Ala174Gly) n.679C>G | ClinVar dbSNP |
| 11 | g.17387571G= | CA1955119316 | KCNJ11 | c.260C= (p.Ala87=) c.521C= (p.Ala174=) n.679C= | |
| 11 | g.17387571G>T | CA379773062 | KCNJ11 | c.260C>A (p.Ala87Asp) c.521C>A (p.Ala174Asp) n.679C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387572C>A | CA379773073 | KCNJ11 | c.259G>T (p.Ala87Ser) c.520G>T (p.Ala174Ser) n.678G>T | |
| 11 | g.17387572C>G | CA379773077 | KCNJ11 | c.259G>C (p.Ala87Pro) c.520G>C (p.Ala174Pro) n.678G>C | |
| 11 | g.17387572C>T | CA379773080 | KCNJ11 | c.259G>A (p.Ala87Thr) c.520G>A (p.Ala174Thr) n.678G>A | |
| 11 | g.17387573T>A | CA379773084 | KCNJ11 | c.258A>T (p.Gln86His) c.519A>T (p.Gln173His) n.677A>T | |
| 11 | g.17387573T>C | CA473515506 | KCNJ11 | c.258A>G (p.Gln86=) c.519A>G (p.Gln173=) n.677A>G | dbSNP |
| 11 | g.17387573T>G | CA379773087 | KCNJ11 | c.258A>C (p.Gln86His) c.519A>C (p.Gln173His) n.677A>C | |
| 11 | g.17387573T= | CA1955119317 | KCNJ11 | c.258A= (p.Gln86=) c.519A= (p.Gln173=) n.677A= | |
| 11 | g.17387574T>A | CA379773098 | KCNJ11 | c.257A>T (p.Gln86Leu) c.518A>T (p.Gln173Leu) n.676A>T | |
| 11 | g.17387574T>C | CA379773092 | KCNJ11 | c.257A>G (p.Gln86Arg) c.518A>G (p.Gln173Arg) n.676A>G | |
| 11 | g.17387574T>G | CA379773095 | KCNJ11 | c.257A>C (p.Gln86Pro) c.518A>C (p.Gln173Pro) n.676A>C | |
| 11 | g.17387575G>A | CA379773103 | KCNJ11 | c.256C>T (p.Gln86Ter) c.517C>T (p.Gln173Ter) n.675C>T | |
| 11 | g.17387575G>C | CA379773106 | KCNJ11 | c.256C>G (p.Gln86Glu) c.517C>G (p.Gln173Glu) n.675C>G | |
| 11 | g.17387575G>T | CA379773110 | KCNJ11 | c.256C>A (p.Gln86Lys) c.517C>A (p.Gln173Lys) n.675C>A | gnomAD v4 |
| 11 | g.17387576G>A | CA473515507 | KCNJ11 | c.255C>T (p.Ala85=) c.516C>T (p.Ala172=) n.674C>T | |
| 11 | g.17387576G>C | CA473515508 | KCNJ11 | c.255C>G (p.Ala85=) c.516C>G (p.Ala172=) n.674C>G | |
| 11 | g.17387576G>T | CA473515509 | KCNJ11 | c.255C>A (p.Ala85=) c.516C>A (p.Ala172=) n.674C>A | |
| 11 | g.17387577G>A | CA379773113 | KCNJ11 | c.254C>T (p.Ala85Val) c.515C>T (p.Ala172Val) n.673C>T | ClinVar dbSNP |
| 11 | g.17387577G>C | CA379773116 | KCNJ11 | c.254C>G (p.Ala85Gly) c.515C>G (p.Ala172Gly) n.673C>G | |
| 11 | g.17387577G= | CA1955119318 | KCNJ11 | c.254C= (p.Ala85=) c.515C= (p.Ala172=) n.673C= | |
| 11 | g.17387577G>T | CA379773118 | KCNJ11 | c.254C>A (p.Ala85Asp) c.515C>A (p.Ala172Asp) n.673C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387578C>A | CA379773121 | KCNJ11 | c.253G>T (p.Ala85Ser) c.514G>T (p.Ala172Ser) n.672G>T | gnomAD v4 |
| 11 | g.17387578C>G | CA379773123 | KCNJ11 | c.253G>C (p.Ala85Pro) c.514G>C (p.Ala172Pro) n.672G>C | |
| 11 | g.17387578C>T | CA379773126 | KCNJ11 | c.253G>A (p.Ala85Thr) c.514G>A (p.Ala172Thr) n.672G>A | |
| 11 | g.17387579A>C | CA473515510 | KCNJ11 | c.252T>G (p.Thr84=) c.513T>G (p.Thr171=) n.671T>G | |
| 11 | g.17387579A>G | CA473515511 | KCNJ11 | c.252T>C (p.Thr84=) c.513T>C (p.Thr171=) n.671T>C | gnomAD v4 |
| 11 | g.17387579A>T | CA473515512 | KCNJ11 | c.252T>A (p.Thr84=) c.513T>A (p.Thr171=) n.671T>A | |
| 11 | g.17387580G>A | CA379773131 | KCNJ11 | c.251C>T (p.Thr84Ile) c.512C>T (p.Thr171Ile) n.670C>T | |
| 11 | g.17387580G>C | CA379773132 | KCNJ11 | c.251C>G (p.Thr84Ser) c.512C>G (p.Thr171Ser) n.670C>G | |
| 11 | g.17387580G>T | CA379773133 | KCNJ11 | c.251C>A (p.Thr84Asn) c.512C>A (p.Thr171Asn) n.670C>A | |
| 11 | g.17387581T>A | CA379773134 | KCNJ11 | c.250A>T (p.Thr84Ser) c.511A>T (p.Thr171Ser) n.669A>T | |
| 11 | g.17387581T>C | CA379773137 | KCNJ11 | c.250A>G (p.Thr84Ala) c.511A>G (p.Thr171Ala) n.669A>G | |
| 11 | g.17387581T>G | CA379773136 | KCNJ11 | c.250A>C (p.Thr84Pro) c.511A>C (p.Thr171Pro) n.669A>C | |
| 11 | g.17387582C>A | CA379773142 | KCNJ11 | c.249G>T (p.Lys83Asn) c.510G>T (p.Lys170Asn) n.668G>T | |
| 11 | g.17387582C= | CA1955119319 | KCNJ11 | c.249G= (p.Lys83=) c.510G= (p.Lys170=) n.668G= | |
| 11 | g.17387582C>G | CA340807 | KCNJ11 | c.249G>C (p.Lys83Asn) c.510G>C (p.Lys170Asn) n.668G>C | ClinVar dbSNP |
| 11 | g.17387582C>T | CA473515513 | KCNJ11 | c.249G>A (p.Lys83=) c.510G>A (p.Lys170=) n.668G>A | |
| 11 | g.17387583T>A | CA379773151 | KCNJ11 | c.248A>T (p.Lys83Met) c.509A>T (p.Lys170Met) n.667A>T | |
| 11 | g.17387583T>C | CA340805 | KCNJ11 | c.248A>G (p.Lys83Arg) c.509A>G (p.Lys170Arg) n.667A>G | ClinVar dbSNP |
| 11 | g.17387583T>G | CA379773156 | KCNJ11 | c.248A>C (p.Lys83Thr) c.509A>C (p.Lys170Thr) n.667A>C | |
| 11 | g.17387583T= | CA1955119320 | KCNJ11 | c.248A= (p.Lys83=) c.509A= (p.Lys170=) n.667A= | |
| 11 | g.17387584T>A | CA379773160 | KCNJ11 | c.247A>T (p.Lys83Ter) c.508A>T (p.Lys170Ter) n.666A>T | |
| 11 | g.17387584T>C | CA379773161 | KCNJ11 | c.247A>G (p.Lys83Glu) c.508A>G (p.Lys170Glu) n.666A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387584T>G | CA379773162 | KCNJ11 | c.247A>C (p.Lys83Gln) c.508A>C (p.Lys170Gln) n.666A>C | |
| 11 | g.17387584T= | CA1955119321 | KCNJ11 | c.247A= (p.Lys83=) c.508A= (p.Lys170=) n.666A= | |
| 11 | g.17387585C>A | CA379773163 | KCNJ11 | c.246G>T (p.Met82Ile) c.507G>T (p.Met169Ile) n.665G>T | |
| 11 | g.17387585C>G | CA379773164 | KCNJ11 | c.246G>C (p.Met82Ile) c.507G>C (p.Met169Ile) n.665G>C | |
| 11 | g.17387585C>T | CA379773165 | KCNJ11 | c.246G>A (p.Met82Ile) c.507G>A (p.Met169Ile) n.665G>A | |
| 11 | g.17387586A>C | CA379773171 | KCNJ11 | c.245T>G (p.Met82Arg) c.506T>G (p.Met169Arg) n.664T>G | |
| 11 | g.17387586A>G | CA379773168 | KCNJ11 | c.245T>C (p.Met82Thr) c.506T>C (p.Met169Thr) n.664T>C | |
| 11 | g.17387586A>T | CA379773167 | KCNJ11 | c.245T>A (p.Met82Lys) c.506T>A (p.Met169Lys) n.664T>A | |
| 11 | g.17387587T>A | CA379773174 | KCNJ11 | c.244A>T (p.Met82Leu) c.505A>T (p.Met169Leu) n.663A>T | |
| 11 | g.17387587T>C | CA379773182 | KCNJ11 | c.244A>G (p.Met82Val) c.505A>G (p.Met169Val) n.663A>G | gnomAD v4 |
| 11 | g.17387587T>G | CA379773183 | KCNJ11 | c.244A>C (p.Met82Leu) c.505A>C (p.Met169Leu) n.663A>C | |
| 11 | g.17387588G>A | CA473515514 | KCNJ11 | c.243C>T (p.Phe81=) c.504C>T (p.Phe168=) n.662C>T | |
| 11 | g.17387588G>C | CA379773184 | KCNJ11 | c.243C>G (p.Phe81Leu) c.504C>G (p.Phe168Leu) n.662C>G | |
| 11 | g.17387588G>T | CA379773185 | KCNJ11 | c.243C>A (p.Phe81Leu) c.504C>A (p.Phe168Leu) n.662C>A | |
| 11 | g.17387589A>C | CA379773190 | KCNJ11 | c.242T>G (p.Phe81Cys) c.503T>G (p.Phe168Cys) n.661T>G | |
| 11 | g.17387589A>G | CA379773192 | KCNJ11 | c.242T>C (p.Phe81Ser) c.503T>C (p.Phe168Ser) n.661T>C | |
| 11 | g.17387589A>T | CA379773194 | KCNJ11 | c.242T>A (p.Phe81Tyr) c.503T>A (p.Phe168Tyr) n.661T>A | |
| 11 | g.17387590A>C | CA379773198 | KCNJ11 | c.241T>G (p.Phe81Val) c.502T>G (p.Phe168Val) n.660T>G | |
| 11 | g.17387590A>G | CA379773200 | KCNJ11 | c.241T>C (p.Phe81Leu) c.502T>C (p.Phe168Leu) n.660T>C | |
| 11 | g.17387590A>T | CA379773202 | KCNJ11 | c.241T>A (p.Phe81Ile) c.502T>A (p.Phe168Ile) n.660T>A | |
| 11 | g.17387591G>A | CA473515515 | KCNJ11 | c.240C>T (p.Ile80=) c.501C>T (p.Ile167=) n.659C>T | |
| 11 | g.17387591G>C | CA379773205 | KCNJ11 | c.240C>G (p.Ile80Met) c.501C>G (p.Ile167Met) n.659C>G | COSMIC |
| 11 | g.17387591G>T | CA473515516 | KCNJ11 | c.240C>A (p.Ile80=) c.501C>A (p.Ile167=) n.659C>A | |
| 11 | g.17387592A>C | CA379773213 | KCNJ11 | c.239T>G (p.Ile80Ser) c.500T>G (p.Ile167Ser) n.658T>G | |
| 11 | g.17387592A>G | CA379773211 | KCNJ11 | c.239T>C (p.Ile80Thr) c.500T>C (p.Ile167Thr) n.658T>C | |
| 11 | g.17387592A>T | CA379773210 | KCNJ11 | c.239T>A (p.Ile80Asn) c.500T>A (p.Ile167Asn) n.658T>A | gnomAD v4 |
| 11 | g.17387593T>A | CA379773218 | KCNJ11 | c.238A>T (p.Ile80Phe) c.499A>T (p.Ile167Phe) n.657A>T | |
| 11 | g.17387593T>C | CA379773217 | KCNJ11 | c.238A>G (p.Ile80Val) c.499A>G (p.Ile167Val) n.657A>G | |
| 11 | g.17387593T>G | CA119835 | KCNJ11 | c.238A>C (p.Ile80Leu) c.499A>C (p.Ile167Leu) n.657A>C | ClinVar dbSNP |
| 11 | g.17387593T= | CA1955119322 | KCNJ11 | c.238A= (p.Ile80=) c.499A= (p.Ile167=) n.657A= | |
| 11 | g.17387594G>A | CA473515517 | KCNJ11 | c.237C>T (p.Cys79=) c.498C>T (p.Cys166=) n.656C>T | |
| 11 | g.17387594G>C | CA172328 | KCNJ11 | c.237C>G (p.Cys79Trp) c.498C>G (p.Cys166Trp) n.656C>G | ClinVar dbSNP |
| 11 | g.17387594G= | CA1955119323 | KCNJ11 | c.237C= (p.Cys79=) c.498C= (p.Cys166=) n.656C= | |
| 11 | g.17387594G>T | CA379773220 | KCNJ11 | c.237C>A (p.Cys79Ter) c.498C>A (p.Cys166Ter) n.656C>A | ClinVar dbSNP |
| 11 | g.17387595C>A | CA119833 | KCNJ11 | c.236G>T (p.Cys79Phe) c.497G>T (p.Cys166Phe) n.655G>T | ClinVar dbSNP |
| 11 | g.17387595C= | CA1955119324 | KCNJ11 | c.236G= (p.Cys79=) c.497G= (p.Cys166=) n.655G= | |
| 11 | g.17387595C>G | CA379773227 | KCNJ11 | c.236G>C (p.Cys79Ser) c.497G>C (p.Cys166Ser) n.655G>C | |
| 11 | g.17387595C>T | CA341720 | KCNJ11 | c.236G>A (p.Cys79Tyr) c.497G>A (p.Cys166Tyr) n.655G>A | ClinVar dbSNP |
| 11 | g.17387596A>C | CA379773233 | KCNJ11 | c.235T>G (p.Cys79Gly) c.496T>G (p.Cys166Gly) n.654T>G | |
| 11 | g.17387596A>G | CA379773235 | KCNJ11 | c.235T>C (p.Cys79Arg) c.496T>C (p.Cys166Arg) n.654T>C | |
| 11 | g.17387596A>T | CA379773238 | KCNJ11 | c.235T>A (p.Cys79Ser) c.496T>A (p.Cys166Ser) n.654T>A | |
| 11 | g.17387597G>A | CA473515518 | KCNJ11 | c.234C>T (p.Gly78=) c.495C>T (p.Gly165=) n.653C>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387597G>C | CA473515519 | KCNJ11 | c.234C>G (p.Gly78=) c.495C>G (p.Gly165=) n.653C>G | |
| 11 | g.17387597G>T | CA473515520 | KCNJ11 | c.234C>A (p.Gly78=) c.495C>A (p.Gly165=) n.653C>A | |
| 11 | g.17387598C>A | CA379773241 | KCNJ11 | c.233G>T (p.Gly78Val) c.494G>T (p.Gly165Val) n.652G>T | |
| 11 | g.17387598C= | CA1955119325 | KCNJ11 | c.233G= (p.Gly78=) c.494G= (p.Gly165=) n.652G= | |
| 11 | g.17387598C>G | CA379773242 | KCNJ11 | c.233G>C (p.Gly78Ala) c.494G>C (p.Gly165Ala) n.652G>C | |
| 11 | g.17387598C>T | CA379773244 | KCNJ11 | c.233G>A (p.Gly78Asp) c.494G>A (p.Gly165Asp) n.652G>A | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387598_17387601dup | CA2695201084 | KCNJ11 | c.230_233dup (p.Cys79TrpfsTer15) c.491_494dup (p.Cys166TrpfsTer15) n.649_652dup | ClinVar |
| 11 | g.17387599C>A | CA379773247 | KCNJ11 | c.232G>T (p.Gly78Cys) c.493G>T (p.Gly165Cys) n.651G>T | |
| 11 | g.17387599C= | CA1955119326 | KCNJ11 | c.232G= (p.Gly78=) c.493G= (p.Gly165=) n.651G= | |
| 11 | g.17387599C>G | CA379773246 | KCNJ11 | c.232G>C (p.Gly78Arg) c.493G>C (p.Gly165Arg) n.651G>C | |
| 11 | g.17387599C>T | CA5902286 | KCNJ11 | c.232G>A (p.Gly78Ser) c.493G>A (p.Gly165Ser) n.651G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387600A>C | CA473515521 | KCNJ11 | c.231T>G (p.Leu77=) c.492T>G (p.Leu164=) n.650T>G | |
| 11 | g.17387600A>G | CA473515522 | KCNJ11 | c.231T>C (p.Leu77=) c.492T>C (p.Leu164=) n.650T>C | |
| 11 | g.17387600A>T | CA473515523 | KCNJ11 | c.231T>A (p.Leu77=) c.492T>A (p.Leu164=) n.650T>A | |
| 11 | g.17387601A>C | CA379773252 | KCNJ11 | c.230T>G (p.Leu77Arg) c.491T>G (p.Leu164Arg) n.649T>G | |
| 11 | g.17387601A>G | CA379773258 | KCNJ11 | c.230T>C (p.Leu77Pro) c.491T>C (p.Leu164Pro) n.649T>C | ClinVar |
| 11 | g.17387601A>T | CA379773259 | KCNJ11 | c.230T>A (p.Leu77His) c.491T>A (p.Leu164His) n.649T>A | |
| 11 | g.17387602G>A | CA379773262 | KCNJ11 | c.229C>T (p.Leu77Phe) c.490C>T (p.Leu164Phe) n.648C>T | ClinVar dbSNP |
| 11 | g.17387602G>C | CA379773264 | KCNJ11 | c.229C>G (p.Leu77Val) c.490C>G (p.Leu164Val) n.648C>G | |
| 11 | g.17387602G= | CA1955119327 | KCNJ11 | c.229C= (p.Leu77=) c.490C= (p.Leu164=) n.648C= | |
| 11 | g.17387602G>T | CA379773266 | KCNJ11 | c.229C>A (p.Leu77Ile) c.490C>A (p.Leu164Ile) n.648C>A | ClinVar dbSNP |
| 11 | g.17387603C>A | CA379773269 | KCNJ11 | c.228G>T (p.Met76Ile) c.489G>T (p.Met163Ile) n.647G>T | |
| 11 | g.17387603C>G | CA379773278 | KCNJ11 | c.228G>C (p.Met76Ile) c.489G>C (p.Met163Ile) n.647G>C | |
| 11 | g.17387603C>T | CA379773281 | KCNJ11 | c.228G>A (p.Met76Ile) c.489G>A (p.Met163Ile) n.647G>A | |
| 11 | g.17387604A>C | CA379773284 | KCNJ11 | c.227T>G (p.Met76Arg) c.488T>G (p.Met163Arg) n.646T>G | |
| 11 | g.17387604A>G | CA379773287 | KCNJ11 | c.227T>C (p.Met76Thr) c.488T>C (p.Met163Thr) n.646T>C | ClinVar dbSNP |
| 11 | g.17387604A>T | CA379773289 | KCNJ11 | c.227T>A (p.Met76Lys) c.488T>A (p.Met163Lys) n.646T>A | |
| 11 | g.17387605T>A | CA379773293 | KCNJ11 | c.226A>T (p.Met76Leu) c.487A>T (p.Met163Leu) n.645A>T | |
| 11 | g.17387605T>C | CA379773295 | KCNJ11 | c.226A>G (p.Met76Val) c.487A>G (p.Met163Val) n.645A>G | |
| 11 | g.17387605T>G | CA379773291 | KCNJ11 | c.226A>C (p.Met76Leu) c.487A>C (p.Met163Leu) n.645A>C | |
| 11 | g.17387606G>A | CA473515524 | KCNJ11 | c.225C>T (p.Ile75=) c.486C>T (p.Ile162=) n.644C>T | |
| 11 | g.17387606G>C | CA379773298 | KCNJ11 | c.225C>G (p.Ile75Met) c.486C>G (p.Ile162Met) n.644C>G | |
| 11 | g.17387606G>T | CA473515525 | KCNJ11 | c.225C>A (p.Ile75=) c.486C>A (p.Ile162=) n.644C>A | |
| 11 | g.17387607A>C | CA379773301 | KCNJ11 | c.224T>G (p.Ile75Ser) c.485T>G (p.Ile162Ser) n.643T>G | |
| 11 | g.17387607A>G | CA379773303 | KCNJ11 | c.224T>C (p.Ile75Thr) c.485T>C (p.Ile162Thr) n.643T>C | |
| 11 | g.17387607A>T | CA379773305 | KCNJ11 | c.224T>A (p.Ile75Asn) c.485T>A (p.Ile162Asn) n.643T>A | |
| 11 | g.17387608T>A | CA379773310 | KCNJ11 | c.223A>T (p.Ile75Phe) c.484A>T (p.Ile162Phe) n.642A>T | |
| 11 | g.17387608T>C | CA379773312 | KCNJ11 | c.223A>G (p.Ile75Val) c.484A>G (p.Ile162Val) n.642A>G | |
| 11 | g.17387608T>G | CA379773315 | KCNJ11 | c.223A>C (p.Ile75Leu) c.484A>C (p.Ile162Leu) n.642A>C | |
| 11 | g.17387609G>A | CA473515526 | KCNJ11 | c.222C>T (p.Ala74=) c.483C>T (p.Ala161=) n.641C>T | |
| 11 | g.17387609G>C | CA473515527 | KCNJ11 | c.222C>G (p.Ala74=) c.483C>G (p.Ala161=) n.641C>G | |
| 11 | g.17387609G>T | CA473515528 | KCNJ11 | c.222C>A (p.Ala74=) c.483C>A (p.Ala161=) n.641C>A | |
| 11 | g.17387610G>A | CA379773326 | KCNJ11 | c.221C>T (p.Ala74Val) c.482C>T (p.Ala161Val) n.640C>T | gnomAD v4 |
| 11 | g.17387610G>C | CA379773330 | KCNJ11 | c.221C>G (p.Ala74Gly) c.482C>G (p.Ala161Gly) n.640C>G | |
| 11 | g.17387610G>T | CA379773332 | KCNJ11 | c.221C>A (p.Ala74Asp) c.482C>A (p.Ala161Asp) n.640C>A | |
| 11 | g.17387611C>A | CA379773337 | KCNJ11 | c.220G>T (p.Ala74Ser) c.481G>T (p.Ala161Ser) n.639G>T | |
| 11 | g.17387611C= | CA1955119328 | KCNJ11 | c.220G= (p.Ala74=) c.481G= (p.Ala161=) n.639G= | |
| 11 | g.17387611C>G | CA379773338 | KCNJ11 | c.220G>C (p.Ala74Pro) c.481G>C (p.Ala161Pro) n.639G>C | |
| 11 | g.17387611C>T | CA379773339 | KCNJ11 | c.220G>A (p.Ala74Thr) c.481G>A (p.Ala161Thr) n.639G>A | ClinVar dbSNP gnomAD v2 |
| 11 | g.17387612G>A | CA5902287 | KCNJ11 | c.219C>T (p.Asn73=) c.480C>T (p.Asn160=) n.638C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387612G>C | CA379773344 | KCNJ11 | c.219C>G (p.Asn73Lys) c.480C>G (p.Asn160Lys) n.638C>G | |
| 11 | g.17387612G= | CA1955119329 | KCNJ11 | c.219C= (p.Asn73=) c.480C= (p.Asn160=) n.638C= | |
| 11 | g.17387612G>T | CA379773340 | KCNJ11 | c.219C>A (p.Asn73Lys) c.480C>A (p.Asn160Lys) n.638C>A | |
| 11 | g.17387613T>A | CA379773346 | KCNJ11 | c.218A>T (p.Asn73Ile) c.479A>T (p.Asn160Ile) n.637A>T | |
| 11 | g.17387613T>C | CA379773347 | KCNJ11 | c.218A>G (p.Asn73Ser) c.479A>G (p.Asn160Ser) n.637A>G | |
| 11 | g.17387613T>G | CA379773349 | KCNJ11 | c.218A>C (p.Asn73Thr) c.479A>C (p.Asn160Thr) n.637A>C | |
| 11 | g.17387614T>A | CA379773351 | KCNJ11 | c.217A>T (p.Asn73Tyr) c.478A>T (p.Asn160Tyr) n.636A>T | |
| 11 | g.17387614T>C | CA379773354 | KCNJ11 | c.217A>G (p.Asn73Asp) c.478A>G (p.Asn160Asp) n.636A>G | |
| 11 | g.17387614T>G | CA379773356 | KCNJ11 | c.217A>C (p.Asn73His) c.478A>C (p.Asn160His) n.636A>C | |
| 11 | g.17387615G>A | CA473515529 | KCNJ11 | c.216C>T (p.Ile72=) c.477C>T (p.Ile159=) n.635C>T | ClinVar dbSNP |
| 11 | g.17387615G>C | CA379773359 | KCNJ11 | c.216C>G (p.Ile72Met) c.477C>G (p.Ile159Met) n.635C>G | |
| 11 | g.17387615G= | CA1955119330 | KCNJ11 | c.216C= (p.Ile72=) c.477C= (p.Ile159=) n.635C= | |
| 11 | g.17387615G>T | CA473515530 | KCNJ11 | c.216C>A (p.Ile72=) c.477C>A (p.Ile159=) n.635C>A | dbSNP gnomAD v2 |
| 11 | g.17387616A>C | CA379773364 | KCNJ11 | c.215T>G (p.Ile72Ser) c.476T>G (p.Ile159Ser) n.634T>G | |
| 11 | g.17387616A>G | CA379773373 | KCNJ11 | c.215T>C (p.Ile72Thr) c.476T>C (p.Ile159Thr) n.634T>C | |
| 11 | g.17387616A>T | CA379773377 | KCNJ11 | c.215T>A (p.Ile72Asn) c.476T>A (p.Ile159Asn) n.634T>A | |
| 11 | g.17387617T>A | CA379773382 | KCNJ11 | c.214A>T (p.Ile72Phe) c.475A>T (p.Ile159Phe) n.633A>T | |
| 11 | g.17387617T>C | CA218399889 | KCNJ11 | c.214A>G (p.Ile72Val) c.475A>G (p.Ile159Val) n.633A>G | dbSNP gnomAD v4 |
| 11 | g.17387617T>G | CA379773400 | KCNJ11 | c.214A>C (p.Ile72Leu) c.475A>C (p.Ile159Leu) n.633A>C | |
| 11 | g.17387617T= | CA1955119331 | KCNJ11 | c.214A= (p.Ile72=) c.475A= (p.Ile159=) n.633A= | |
| 11 | g.17387618C>A | CA379773412 | KCNJ11 | c.213G>T (p.Met71Ile) c.474G>T (p.Met158Ile) n.632G>T | |
| 11 | g.17387618C>G | CA379773415 | KCNJ11 | c.213G>C (p.Met71Ile) c.474G>C (p.Met158Ile) n.632G>C | |
| 11 | g.17387618C>T | CA379773409 | KCNJ11 | c.213G>A (p.Met71Ile) c.474G>A (p.Met158Ile) n.632G>A | gnomAD v4 |
| 11 | g.17387619A= | CA1955119332 | KCNJ11 | c.212T= (p.Met71=) c.473T= (p.Met158=) n.631T= | |
| 11 | g.17387619A>C | CA379773426 | KCNJ11 | c.212T>G (p.Met71Arg) c.473T>G (p.Met158Arg) n.631T>G | |
| 11 | g.17387619A>G | CA379773430 | KCNJ11 | c.212T>C (p.Met71Thr) c.473T>C (p.Met158Thr) n.631T>C | dbSNP gnomAD v4 |
| 11 | g.17387619A>T | CA379773433 | KCNJ11 | c.212T>A (p.Met71Lys) c.473T>A (p.Met158Lys) n.631T>A | |
| 11 | g.17387620T>A | CA379773437 | KCNJ11 | c.211A>T (p.Met71Leu) c.472A>T (p.Met158Leu) n.630A>T | ClinVar dbSNP |
| 11 | g.17387620T>C | CA379773438 | KCNJ11 | c.211A>G (p.Met71Val) c.472A>G (p.Met158Val) n.630A>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387620T>G | CA379773439 | KCNJ11 | c.211A>C (p.Met71Leu) c.472A>C (p.Met158Leu) n.630A>C | |
| 11 | g.17387620T= | CA1955119333 | KCNJ11 | c.211A= (p.Met71=) c.472A= (p.Met158=) n.630A= | |
| 11 | g.17387621G>A | CA218399891 | KCNJ11 | c.210C>T (p.Leu70=) c.471C>T (p.Leu157=) n.629C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387621G>C | CA473515532 | KCNJ11 | c.210C>G (p.Leu70=) c.471C>G (p.Leu157=) n.629C>G | |
| 11 | g.17387621G= | CA1955119334 | KCNJ11 | c.210C= (p.Leu70=) c.471C= (p.Leu157=) n.629C= | |
| 11 | g.17387621G>T | CA473515531 | KCNJ11 | c.210C>A (p.Leu70=) c.471C>A (p.Leu157=) n.629C>A | |
| 11 | g.17387622A>C | CA379773445 | KCNJ11 | c.209T>G (p.Leu70Arg) c.470T>G (p.Leu157Arg) n.628T>G | |
| 11 | g.17387622A>G | CA379773450 | KCNJ11 | c.209T>C (p.Leu70Pro) c.470T>C (p.Leu157Pro) n.628T>C | |
| 11 | g.17387622A>T | CA379773455 | KCNJ11 | c.209T>A (p.Leu70His) c.470T>A (p.Leu157His) n.628T>A | |
| 11 | g.17387623G>A | CA379773460 | KCNJ11 | c.208C>T (p.Leu70Phe) c.469C>T (p.Leu157Phe) n.627C>T | |
| 11 | g.17387623G>C | CA379773463 | KCNJ11 | c.208C>G (p.Leu70Val) c.469C>G (p.Leu157Val) n.627C>G | |
| 11 | g.17387623G>T | CA379773466 | KCNJ11 | c.208C>A (p.Leu70Ile) c.469C>A (p.Leu157Ile) n.627C>A | |
| 11 | g.17387624C>A | CA473515533 | KCNJ11 | c.207G>T (p.Gly69=) c.468G>T (p.Gly156=) n.626G>T | |
| 11 | g.17387624C= | CA1955119335 | KCNJ11 | c.207G= (p.Gly69=) c.468G= (p.Gly156=) n.626G= | |
| 11 | g.17387624C>G | CA473515534 | KCNJ11 | c.207G>C (p.Gly69=) c.468G>C (p.Gly156=) n.626G>C | |
| 11 | g.17387624C>T | CA218399893 | KCNJ11 | c.207G>A (p.Gly69=) c.468G>A (p.Gly156=) n.626G>A | dbSNP |
| 11 | g.17387625C>A | CA379773495 | KCNJ11 | c.206G>T (p.Gly69Val) c.467G>T (p.Gly156Val) n.625G>T | |
| 11 | g.17387625C>G | CA379773483 | KCNJ11 | c.206G>C (p.Gly69Ala) c.467G>C (p.Gly156Ala) n.625G>C | |
| 11 | g.17387625C>T | CA379773478 | KCNJ11 | c.206G>A (p.Gly69Glu) c.467G>A (p.Gly156Glu) n.625G>A | |
| 11 | g.17387626C>A | CA379773505 | KCNJ11 | c.205G>T (p.Gly69Trp) c.466G>T (p.Gly156Trp) n.624G>T | |
| 11 | g.17387626C= | CA1955119336 | KCNJ11 | c.205G= (p.Gly69=) c.466G= (p.Gly156=) n.624G= | |
| 11 | g.17387626C>G | CA379773513 | KCNJ11 | c.205G>C (p.Gly69Arg) c.466G>C (p.Gly156Arg) n.624G>C | |
| 11 | g.17387626C>T | CA379773518 | KCNJ11 | c.205G>A (p.Gly69Arg) c.466G>A (p.Gly156Arg) n.624G>A | ClinVar dbSNP gnomAD v2 |
| 11 | g.17387627C>A | CA473515535 | KCNJ11 | c.204G>T (p.Val68=) c.465G>T (p.Val155=) n.623G>T | |
| 11 | g.17387627C>G | CA473515536 | KCNJ11 | c.204G>C (p.Val68=) c.465G>C (p.Val155=) n.623G>C | |
| 11 | g.17387627C>T | CA473515537 | KCNJ11 | c.204G>A (p.Val68=) c.465G>A (p.Val155=) n.623G>A | |
| 11 | g.17387628A>C | CA379773519 | KCNJ11 | c.203T>G (p.Val68Gly) c.464T>G (p.Val155Gly) n.622T>G | |
| 11 | g.17387628A>G | CA379773520 | KCNJ11 | c.203T>C (p.Val68Ala) c.464T>C (p.Val155Ala) n.622T>C | |
| 11 | g.17387628A>T | CA379773521 | KCNJ11 | c.203T>A (p.Val68Glu) c.464T>A (p.Val155Glu) n.622T>A |