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.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 | |
| 11 | g.17387397G>A | CA218399677 | KCNJ11 | c.434C>T (p.Pro145Leu) c.695C>T (p.Pro232Leu) n.853C>T | dbSNP |
| 11 | g.17387397G>C | CA379771419 | KCNJ11 | c.434C>G (p.Pro145Arg) c.695C>G (p.Pro232Arg) n.853C>G | |
| 11 | g.17387397G= | CA1955119247 | KCNJ11 | c.434C= (p.Pro145=) c.695C= (p.Pro232=) n.853C= | |
| 11 | g.17387397G>T | CA379771416 | KCNJ11 | c.434C>A (p.Pro145His) c.695C>A (p.Pro232His) n.853C>A | |
| 11 | g.17387398G>A | CA379771424 | KCNJ11 | c.433C>T (p.Pro145Ser) c.694C>T (p.Pro232Ser) n.852C>T | |
| 11 | g.17387398G>C | CA379771430 | KCNJ11 | c.433C>G (p.Pro145Ala) c.694C>G (p.Pro232Ala) n.852C>G | |
| 11 | g.17387398G>T | CA379771433 | KCNJ11 | c.433C>A (p.Pro145Thr) c.694C>A (p.Pro232Thr) n.852C>A | |
| 11 | g.17387399C>A | CA473515621 | KCNJ11 | c.432G>T (p.Val144=) c.693G>T (p.Val231=) n.851G>T | |
| 11 | g.17387399C>G | CA473515622 | KCNJ11 | c.432G>C (p.Val144=) c.693G>C (p.Val231=) n.851G>C | |
| 11 | g.17387399C>T | CA473515623 | KCNJ11 | c.432G>A (p.Val144=) c.693G>A (p.Val231=) n.851G>A | ClinVar |
| 11 | g.17387400A>C | CA379771437 | KCNJ11 | c.431T>G (p.Val144Gly) c.692T>G (p.Val231Gly) n.850T>G | |
| 11 | g.17387400A>G | CA379771440 | KCNJ11 | c.431T>C (p.Val144Ala) c.692T>C (p.Val231Ala) n.850T>C | |
| 11 | g.17387400A>T | CA379771443 | KCNJ11 | c.431T>A (p.Val144Glu) c.692T>A (p.Val231Glu) n.850T>A | |
| 11 | g.17387401C>A | CA379771447 | KCNJ11 | c.430G>T (p.Val144Leu) c.691G>T (p.Val231Leu) n.849G>T | |
| 11 | g.17387401C>G | CA379771449 | KCNJ11 | c.430G>C (p.Val144Leu) c.691G>C (p.Val231Leu) n.849G>C | |
| 11 | g.17387401C>T | CA379771451 | KCNJ11 | c.430G>A (p.Val144Met) c.691G>A (p.Val231Met) n.849G>A | |
| 11 | g.17387402C>A | CA473515625 | KCNJ11 | c.429G>T (p.Val143=) c.690G>T (p.Val230=) n.848G>T | gnomAD v4 |
| 11 | g.17387402C= | CA1955119248 | KCNJ11 | c.429G= (p.Val143=) c.690G= (p.Val230=) n.848G= | |
| 11 | g.17387402C>G | CA473515626 | KCNJ11 | c.429G>C (p.Val143=) c.690G>C (p.Val230=) n.848G>C | |
| 11 | g.17387402C>T | CA5902262 | KCNJ11 | c.429G>A (p.Val143=) c.690G>A (p.Val230=) n.848G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387403A>C | CA379771459 | KCNJ11 | c.428T>G (p.Val143Gly) c.689T>G (p.Val230Gly) n.847T>G | |
| 11 | g.17387403A>G | CA379771471 | KCNJ11 | c.428T>C (p.Val143Ala) c.689T>C (p.Val230Ala) n.847T>C | |
| 11 | g.17387403A>T | CA379771462 | KCNJ11 | c.428T>A (p.Val143Glu) c.689T>A (p.Val230Glu) n.847T>A | |
| 11 | g.17387404C>A | CA379771475 | KCNJ11 | c.427G>T (p.Val143Leu) c.688G>T (p.Val230Leu) n.846G>T | |
| 11 | g.17387404C>G | CA379771477 | KCNJ11 | c.427G>C (p.Val143Leu) c.688G>C (p.Val230Leu) n.846G>C | |
| 11 | g.17387404C>T | CA379771478 | KCNJ11 | c.427G>A (p.Val143Met) c.688G>A (p.Val230Met) n.846G>A | |
| 11 | g.17387405C>A | CA379771480 | KCNJ11 | c.426G>T (p.Glu142Asp) c.687G>T (p.Glu229Asp) n.845G>T | |
| 11 | g.17387405C>G | CA379771481 | KCNJ11 | c.426G>C (p.Glu142Asp) c.687G>C (p.Glu229Asp) n.845G>C | |
| 11 | g.17387405C>T | CA473515630 | KCNJ11 | c.426G>A (p.Glu142=) c.687G>A (p.Glu229=) n.845G>A | gnomAD v4 |
| 11 | g.17387406T>A | CA379771485 | KCNJ11 | c.425A>T (p.Glu142Val) c.686A>T (p.Glu229Val) n.844A>T | |
| 11 | g.17387406T>C | CA379771488 | KCNJ11 | c.425A>G (p.Glu142Gly) c.686A>G (p.Glu229Gly) n.844A>G | |
| 11 | g.17387406T>G | CA379771489 | KCNJ11 | c.425A>C (p.Glu142Ala) c.686A>C (p.Glu229Ala) n.844A>C | |
| 11 | g.17387407C>A | CA379771495 | KCNJ11 | c.424G>T (p.Glu142Ter) c.685G>T (p.Glu229Ter) n.843G>T | |
| 11 | g.17387407C= | CA1955119249 | KCNJ11 | c.424G= (p.Glu142=) c.685G= (p.Glu229=) n.843G= | |
| 11 | g.17387407C>G | CA379771504 | KCNJ11 | c.424G>C (p.Glu142Gln) c.685G>C (p.Glu229Gln) n.843G>C | |
| 11 | g.17387407C>T | CA172342 | KCNJ11 | c.424G>A (p.Glu142Lys) c.685G>A (p.Glu229Lys) n.843G>A | ClinVar dbSNP |
| 11 | g.17387408G>A | CA5902263 | KCNJ11 | c.423C>T (p.Gly141=) c.684C>T (p.Gly228=) n.842C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387408G>C | CA473515632 | KCNJ11 | c.423C>G (p.Gly141=) c.684C>G (p.Gly228=) n.842C>G | |
| 11 | g.17387408G= | CA1955119250 | KCNJ11 | c.423C= (p.Gly141=) c.684C= (p.Gly228=) n.842C= | |
| 11 | g.17387408G>T | CA473515633 | KCNJ11 | c.423C>A (p.Gly141=) c.684C>A (p.Gly228=) n.842C>A | gnomAD v4 |
| 11 | g.17387409C>A | CA379771511 | KCNJ11 | c.422G>T (p.Gly141Val) c.683G>T (p.Gly228Val) n.841G>T | |
| 11 | g.17387409C>G | CA379771514 | KCNJ11 | c.422G>C (p.Gly141Ala) c.683G>C (p.Gly228Ala) n.841G>C | |
| 11 | g.17387409C>T | CA379771517 | KCNJ11 | c.422G>A (p.Gly141Asp) c.683G>A (p.Gly228Asp) n.841G>A | |
| 11 | g.17387410C>A | CA379771520 | KCNJ11 | c.421G>T (p.Gly141Cys) c.682G>T (p.Gly228Cys) n.840G>T | |
| 11 | g.17387410C= | CA1955119251 | KCNJ11 | c.421G= (p.Gly141=) c.682G= (p.Gly228=) n.840G= | |
| 11 | g.17387410C>G | CA379771525 | KCNJ11 | c.421G>C (p.Gly141Arg) c.682G>C (p.Gly228Arg) n.840G>C | |
| 11 | g.17387410C>T | CA218399688 | KCNJ11 | c.421G>A (p.Gly141Ser) c.682G>A (p.Gly228Ser) n.840G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387411C>A | CA379771528 | KCNJ11 | c.420G>T (p.Glu140Asp) c.681G>T (p.Glu227Asp) n.839G>T | |
| 11 | g.17387411C= | CA1955119252 | KCNJ11 | c.420G= (p.Glu140=) c.681G= (p.Glu227=) n.839G= | |
| 11 | g.17387411C>G | CA379771529 | KCNJ11 | c.420G>C (p.Glu140Asp) c.681G>C (p.Glu227Asp) n.839G>C | dbSNP |
| 11 | g.17387411C>T | CA473515639 | KCNJ11 | c.420G>A (p.Glu140=) c.681G>A (p.Glu227=) n.839G>A | |
| 11 | g.17387412T>A | CA379771535 | KCNJ11 | c.419A>T (p.Glu140Val) c.680A>T (p.Glu227Val) n.838A>T | |
| 11 | g.17387412T>C | CA379771537 | KCNJ11 | c.419A>G (p.Glu140Gly) c.680A>G (p.Glu227Gly) n.838A>G | |
| 11 | g.17387412T>G | CA379771539 | KCNJ11 | c.419A>C (p.Glu140Ala) c.680A>C (p.Glu227Ala) n.838A>C | |
| 11 | g.17387412_17387413delinsAG | CA2695213242 | KCNJ11 | c.418_419delinsCT (p.Glu140Leu) c.679_680delinsCT (p.Glu227Leu) n.837_838delinsCT | |
| 11 | g.17387413C>A | CA379771548 | KCNJ11 | c.418G>T (p.Glu140Ter) c.679G>T (p.Glu227Ter) n.837G>T | |
| 11 | g.17387413C= | CA1955119253 | KCNJ11 | c.418G= (p.Glu140=) c.679G= (p.Glu227=) n.837G= | |
| 11 | g.17387413C>G | CA379771550 | KCNJ11 | c.418G>C (p.Glu140Gln) c.679G>C (p.Glu227Gln) n.837G>C | |
| 11 | g.17387413C>T | CA172340 | KCNJ11 | c.418G>A (p.Glu140Lys) c.679G>A (p.Glu227Lys) n.837G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387414G>A | CA238617 | KCNJ11 | c.417C>T (p.Pro139=) c.678C>T (p.Pro226=) n.836C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387414G>C | CA473515643 | KCNJ11 | c.417C>G (p.Pro139=) c.678C>G (p.Pro226=) n.836C>G | dbSNP |
| 11 | g.17387414G= | CA1955119254 | KCNJ11 | c.417C= (p.Pro139=) c.678C= (p.Pro226=) n.836C= | |
| 11 | g.17387414G>T | CA473515642 | KCNJ11 | c.417C>A (p.Pro139=) c.678C>A (p.Pro226=) n.836C>A | |
| 11 | g.17387417del | CA2612638755 | KCNJ11 | c.417del (p.Glu140ArgfsTer29) c.678del (p.Glu227ArgfsTer29) c.417del (p.Glu140ArgfsTer?) n.836del | gnomAD v4 |
| 11 | g.17387415G>A | CA379771556 | KCNJ11 | c.416C>T (p.Pro139Leu) c.677C>T (p.Pro226Leu) n.835C>T | |
| 11 | g.17387415G>C | CA379771559 | KCNJ11 | c.416C>G (p.Pro139Arg) c.677C>G (p.Pro226Arg) n.835C>G | |
| 11 | g.17387415G>T | CA379771561 | KCNJ11 | c.416C>A (p.Pro139His) c.677C>A (p.Pro226His) n.835C>A | |
| 11 | g.17387416G>A | CA379771566 | KCNJ11 | c.415C>T (p.Pro139Ser) c.676C>T (p.Pro226Ser) n.834C>T | gnomAD v4 |
| 11 | g.17387416G>C | CA379771563 | KCNJ11 | c.415C>G (p.Pro139Ala) c.676C>G (p.Pro226Ala) n.834C>G | |
| 11 | g.17387416G>T | CA379771565 | KCNJ11 | c.415C>A (p.Pro139Thr) c.676C>A (p.Pro226Thr) n.834C>A | |
| 11 | g.17387417G>A | CA473515645 | KCNJ11 | c.414C>T (p.Ser138=) c.675C>T (p.Ser225=) n.833C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.17387417G>C | CA379771569 | KCNJ11 | c.414C>G (p.Ser138Arg) c.675C>G (p.Ser225Arg) n.833C>G | |
| 11 | g.17387417G>T | CA379771571 | KCNJ11 | c.414C>A (p.Ser138Arg) c.675C>A (p.Ser225Arg) n.833C>A | |
| 11 | g.17387418C>A | CA379771574 | KCNJ11 | c.413G>T (p.Ser138Ile) c.674G>T (p.Ser225Ile) n.832G>T | gnomAD v4 |
| 11 | g.17387418C>G | CA379771576 | KCNJ11 | c.413G>C (p.Ser138Thr) c.674G>C (p.Ser225Thr) n.832G>C | |
| 11 | g.17387418C>T | CA379771577 | KCNJ11 | c.413G>A (p.Ser138Asn) c.674G>A (p.Ser225Asn) n.832G>A | COSMIC |
| 11 | g.17387419T>A | CA379771580 | KCNJ11 | c.412A>T (p.Ser138Cys) c.673A>T (p.Ser225Cys) n.831A>T | |
| 11 | g.17387419T>C | CA379771582 | KCNJ11 | c.412A>G (p.Ser138Gly) c.673A>G (p.Ser225Gly) n.831A>G | gnomAD v4 |
| 11 | g.17387419T>G | CA379771586 | KCNJ11 | c.412A>C (p.Ser138Arg) c.673A>C (p.Ser225Arg) n.831A>C | |
| 11 | g.17387420G>A | CA473515647 | KCNJ11 | c.411C>T (p.Thr137=) c.672C>T (p.Thr224=) n.830C>T | gnomAD v4 |
| 11 | g.17387420G>C | CA473515648 | KCNJ11 | c.411C>G (p.Thr137=) c.672C>G (p.Thr224=) n.830C>G | |
| 11 | g.17387420G>T | CA473515649 | KCNJ11 | c.411C>A (p.Thr137=) c.672C>A (p.Thr224=) n.830C>A | |
| 11 | g.17387421G>A | CA379771593 | KCNJ11 | c.410C>T (p.Thr137Ile) c.671C>T (p.Thr224Ile) n.829C>T | |
| 11 | g.17387421G>C | CA379771603 | KCNJ11 | c.410C>G (p.Thr137Ser) c.671C>G (p.Thr224Ser) n.829C>G | |
| 11 | g.17387421G>T | CA379771601 | KCNJ11 | c.410C>A (p.Thr137Asn) c.671C>A (p.Thr224Asn) n.829C>A | |
| 11 | g.17387422T>A | CA379771605 | KCNJ11 | c.409A>T (p.Thr137Ser) c.670A>T (p.Thr224Ser) n.828A>T | |
| 11 | g.17387422T>C | CA379771606 | KCNJ11 | c.409A>G (p.Thr137Ala) c.670A>G (p.Thr224Ala) n.828A>G | |
| 11 | g.17387422T>G | CA379771607 | KCNJ11 | c.409A>C (p.Thr137Pro) c.670A>C (p.Thr224Pro) n.828A>C | dbSNP |
| 11 | g.17387422T= | CA1955119255 | KCNJ11 | c.409A= (p.Thr137=) c.670A= (p.Thr224=) n.828A= | |
| 11 | g.17387423G>A | CA473515653 | KCNJ11 | c.408C>T (p.Thr136=) c.669C>T (p.Thr223=) n.827C>T | dbSNP gnomAD v2 |
| 11 | g.17387423G>C | CA5902264 | KCNJ11 | c.408C>G (p.Thr136=) c.669C>G (p.Thr223=) n.827C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387423G= | CA1955119256 | KCNJ11 | c.408C= (p.Thr136=) c.669C= (p.Thr223=) n.827C= | |
| 11 | g.17387423G>T | CA473515654 | KCNJ11 | c.408C>A (p.Thr136=) c.669C>A (p.Thr223=) n.827C>A | |
| 11 | g.17387424G>A | CA218399704 | KCNJ11 | c.407C>T (p.Thr136Ile) c.668C>T (p.Thr223Ile) n.826C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387424G>C | CA379771617 | KCNJ11 | c.407C>G (p.Thr136Ser) c.668C>G (p.Thr223Ser) n.826C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387424G= | CA1955119257 | KCNJ11 | c.407C= (p.Thr136=) c.668C= (p.Thr223=) n.826C= | |
| 11 | g.17387424G>T | CA379771613 | KCNJ11 | c.407C>A (p.Thr136Asn) c.668C>A (p.Thr223Asn) n.826C>A | gnomAD v4 |
| 11 | g.17387425T>A | CA379771620 | KCNJ11 | c.406A>T (p.Thr136Ser) c.667A>T (p.Thr223Ser) n.825A>T | |
| 11 | g.17387425T>C | CA379771623 | KCNJ11 | c.406A>G (p.Thr136Ala) c.667A>G (p.Thr223Ala) n.825A>G | |
| 11 | g.17387425T>G | CA379771626 | KCNJ11 | c.406A>C (p.Thr136Pro) c.667A>C (p.Thr223Pro) n.825A>C | dbSNP |
| 11 | g.17387425T= | CA1955119258 | KCNJ11 | c.406A= (p.Thr136=) c.667A= (p.Thr223=) n.825A= | |
| 11 | g.17387426C>A | CA379771631 | KCNJ11 | c.405G>T (p.Lys135Asn) c.666G>T (p.Lys222Asn) n.824G>T | |
| 11 | g.17387426C>G | CA379771633 | KCNJ11 | c.405G>C (p.Lys135Asn) c.666G>C (p.Lys222Asn) n.824G>C | |
| 11 | g.17387426C>T | CA473515655 | KCNJ11 | c.405G>A (p.Lys135=) c.666G>A (p.Lys222=) n.824G>A | |
| 11 | g.17387427T>A | CA379771637 | KCNJ11 | c.404A>T (p.Lys135Met) c.665A>T (p.Lys222Met) n.823A>T | |
| 11 | g.17387427T>C | CA379771640 | KCNJ11 | c.404A>G (p.Lys135Arg) c.665A>G (p.Lys222Arg) n.823A>G | |
| 11 | g.17387427T>G | CA379771641 | KCNJ11 | c.404A>C (p.Lys135Thr) c.665A>C (p.Lys222Thr) n.823A>C | |
| 11 | g.17387428T>A | CA379771644 | KCNJ11 | c.403A>T (p.Lys135Ter) c.664A>T (p.Lys222Ter) n.822A>T | |
| 11 | g.17387428T>C | CA379771645 | KCNJ11 | c.403A>G (p.Lys135Glu) c.664A>G (p.Lys222Glu) n.822A>G | |
| 11 | g.17387428T>G | CA5902265 | KCNJ11 | c.403A>C (p.Lys135Gln) c.664A>C (p.Lys222Gln) n.822A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387428T= | CA1955119259 | KCNJ11 | c.403A= (p.Lys135=) c.664A= (p.Lys222=) n.822A= | |
| 11 | g.17387429G>A | CA473515658 | KCNJ11 | c.402C>T (p.Arg134=) c.663C>T (p.Arg221=) n.821C>T | |
| 11 | g.17387429G>C | CA473515659 | KCNJ11 | c.402C>G (p.Arg134=) c.663C>G (p.Arg221=) n.821C>G | |
| 11 | g.17387429G>T | CA473515660 | KCNJ11 | c.402C>A (p.Arg134=) c.663C>A (p.Arg221=) n.821C>A | ClinVar dbSNP |
| 11 | g.17387430C>A | CA218399706 | KCNJ11 | c.401G>T (p.Arg134Leu) c.662G>T (p.Arg221Leu) n.820G>T | dbSNP gnomAD v4 COSMIC |
| 11 | g.17387430C= | CA1955119260 | KCNJ11 | c.401G= (p.Arg134=) c.662G= (p.Arg221=) n.820G= | |
| 11 | g.17387430C>G | CA379771653 | KCNJ11 | c.401G>C (p.Arg134Pro) c.662G>C (p.Arg221Pro) n.820G>C | ClinVar |
| 11 | g.17387430C>T | CA5902266 | KCNJ11 | c.401G>A (p.Arg134His) c.662G>A (p.Arg221His) n.820G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387431G>A | CA5902267 | KCNJ11 | c.400C>T (p.Arg134Cys) c.661C>T (p.Arg221Cys) n.819C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387431G>C | CA10605309 | KCNJ11 | c.400C>G (p.Arg134Gly) c.661C>G (p.Arg221Gly) n.819C>G | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387431G= | CA1955119261 | KCNJ11 | c.400C= (p.Arg134=) c.661C= (p.Arg221=) n.819C= | |
| 11 | g.17387431G>T | CA5902268 | KCNJ11 | c.400C>A (p.Arg134Ser) c.661C>A (p.Arg221Ser) n.819C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387432T>A | CA473515662 | KCNJ11 | c.399A>T (p.Val133=) c.660A>T (p.Val220=) n.818A>T | |
| 11 | g.17387432T>C | CA473515663 | KCNJ11 | c.399A>G (p.Val133=) c.660A>G (p.Val220=) n.818A>G | |
| 11 | g.17387432T>G | CA473515664 | KCNJ11 | c.399A>C (p.Val133=) c.660A>C (p.Val220=) n.818A>C | |
| 11 | g.17387433A>C | CA379771667 | KCNJ11 | c.398T>G (p.Val133Gly) c.659T>G (p.Val220Gly) n.817T>G | |
| 11 | g.17387433A>G | CA379771677 | KCNJ11 | c.398T>C (p.Val133Ala) c.659T>C (p.Val220Ala) n.817T>C | |
| 11 | g.17387433A>T | CA379771682 | KCNJ11 | c.398T>A (p.Val133Glu) c.659T>A (p.Val220Glu) n.817T>A | |
| 11 | g.17387434C>A | CA379771683 | KCNJ11 | c.397G>T (p.Val133Leu) c.658G>T (p.Val220Leu) n.816G>T | |
| 11 | g.17387434C>G | CA379771684 | KCNJ11 | c.397G>C (p.Val133Leu) c.658G>C (p.Val220Leu) n.816G>C | gnomAD v4 |
| 11 | g.17387434C>T | CA379771686 | KCNJ11 | c.397G>A (p.Val133Ile) c.658G>A (p.Val220Ile) n.816G>A | gnomAD v4 |
| 11 | g.17387435C>A | CA473515665 | KCNJ11 | c.396G>T (p.Val132=) c.657G>T (p.Val219=) n.815G>T | |
| 11 | g.17387435C>G | CA473515666 | KCNJ11 | c.396G>C (p.Val132=) c.657G>C (p.Val219=) n.815G>C | |
| 11 | g.17387435C>T | CA473515667 | KCNJ11 | c.396G>A (p.Val132=) c.657G>A (p.Val219=) n.815G>A | |
| 11 | g.17387436A>C | CA379771692 | KCNJ11 | c.395T>G (p.Val132Gly) c.656T>G (p.Val219Gly) n.814T>G | |
| 11 | g.17387436A>G | CA379771696 | KCNJ11 | c.395T>C (p.Val132Ala) c.656T>C (p.Val219Ala) n.814T>C | |
| 11 | g.17387436A>T | CA379771700 | KCNJ11 | c.395T>A (p.Val132Glu) c.656T>A (p.Val219Glu) n.814T>A | |
| 11 | g.17387437C>A | CA5902269 | KCNJ11 | c.394G>T (p.Val132Leu) c.655G>T (p.Val219Leu) n.813G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387437C= | CA1955119262 | KCNJ11 | c.394G= (p.Val132=) c.655G= (p.Val219=) n.813G= | |
| 11 | g.17387437C>G | CA379771709 | KCNJ11 | c.394G>C (p.Val132Leu) c.655G>C (p.Val219Leu) n.813G>C | |
| 11 | g.17387437C>T | CA379771712 | KCNJ11 | c.394G>A (p.Val132Met) c.655G>A (p.Val219Met) n.813G>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387438C>A | CA379771728 | KCNJ11 | c.393G>T (p.Gln131His) c.654G>T (p.Gln218His) n.812G>T | |
| 11 | g.17387438C>G | CA379771724 | KCNJ11 | c.393G>C (p.Gln131His) c.654G>C (p.Gln218His) n.812G>C | |
| 11 | g.17387438C>T | CA473515668 | KCNJ11 | c.393G>A (p.Gln131=) c.654G>A (p.Gln218=) n.812G>A | |
| 11 | g.17387439T>A | CA379771735 | KCNJ11 | c.392A>T (p.Gln131Leu) c.653A>T (p.Gln218Leu) n.811A>T | |
| 11 | g.17387439T>C | CA379771741 | KCNJ11 | c.392A>G (p.Gln131Arg) c.653A>G (p.Gln218Arg) n.811A>G | gnomAD v4 |
| 11 | g.17387439T>G | CA379771744 | KCNJ11 | c.392A>C (p.Gln131Pro) c.653A>C (p.Gln218Pro) n.811A>C | |
| 11 | g.17387440G>A | CA379771745 | KCNJ11 | c.391C>T (p.Gln131Ter) c.652C>T (p.Gln218Ter) n.810C>T | gnomAD v4 |
| 11 | g.17387440G>C | CA379771746 | KCNJ11 | c.391C>G (p.Gln131Glu) c.652C>G (p.Gln218Glu) n.810C>G | |
| 11 | g.17387440G>T | CA379771750 | KCNJ11 | c.391C>A (p.Gln131Lys) c.652C>A (p.Gln218Lys) n.810C>A | |
| 11 | g.17387441C>A | CA379771756 | KCNJ11 | c.390G>T (p.Met130Ile) c.651G>T (p.Met217Ile) n.809G>T | |
| 11 | g.17387441C>G | CA379771760 | KCNJ11 | c.390G>C (p.Met130Ile) c.651G>C (p.Met217Ile) n.809G>C | |
| 11 | g.17387441C>T | CA379771764 | KCNJ11 | c.390G>A (p.Met130Ile) c.651G>A (p.Met217Ile) n.809G>A | |
| 11 | g.17387442del | CA473515669 | KCNJ11 | c.389del (p.Met130SerfsTer?) c.650del (p.Met217SerfsTer?) n.808del | COSMIC |
| 11 | g.17387442A= | CA1955119263 | KCNJ11 | c.389T= (p.Met130=) c.650T= (p.Met217=) n.808T= | |
| 11 | g.17387442A>C | CA379771771 | KCNJ11 | c.389T>G (p.Met130Arg) c.650T>G (p.Met217Arg) n.808T>G | |
| 11 | g.17387442A>G | CA5902270 | KCNJ11 | c.389T>C (p.Met130Thr) c.650T>C (p.Met217Thr) n.808T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387442A>T | CA379771780 | KCNJ11 | c.389T>A (p.Met130Lys) c.650T>A (p.Met217Lys) n.808T>A | |
| 11 | g.17387443T>A | CA379771800 | KCNJ11 | c.388A>T (p.Met130Leu) c.649A>T (p.Met217Leu) n.807A>T | |
| 11 | g.17387443T>C | CA379771789 | KCNJ11 | c.388A>G (p.Met130Val) c.649A>G (p.Met217Val) n.807A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387443T>G | CA379771785 | KCNJ11 | c.388A>C (p.Met130Leu) c.649A>C (p.Met217Leu) n.807A>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387443T= | CA1955119264 | KCNJ11 | c.388A= (p.Met130=) c.649A= (p.Met217=) n.807A= | |
| 11 | g.17387444G>A | CA473515670 | KCNJ11 | c.387C>T (p.His129=) c.648C>T (p.His216=) n.806C>T | |
| 11 | g.17387444G>C | CA379771805 | KCNJ11 | c.387C>G (p.His129Gln) c.648C>G (p.His216Gln) n.806C>G | |
| 11 | g.17387444G>T | CA379771809 | KCNJ11 | c.387C>A (p.His129Gln) c.648C>A (p.His216Gln) n.806C>A | |
| 11 | g.17387445T>A | CA379771815 | KCNJ11 | c.386A>T (p.His129Leu) c.647A>T (p.His216Leu) n.805A>T | |
| 11 | g.17387445T>C | CA379771820 | KCNJ11 | c.386A>G (p.His129Arg) c.647A>G (p.His216Arg) n.805A>G | |
| 11 | g.17387445T>G | CA379771836 | KCNJ11 | c.386A>C (p.His129Pro) c.647A>C (p.His216Pro) n.805A>C | |
| 11 | g.17387446G>A | CA379771841 | KCNJ11 | c.385C>T (p.His129Tyr) c.646C>T (p.His216Tyr) n.804C>T | |
| 11 | g.17387446G>C | CA379771844 | KCNJ11 | c.385C>G (p.His129Asp) c.646C>G (p.His216Asp) n.804C>G | |
| 11 | g.17387446G>T | CA379771847 | KCNJ11 | c.385C>A (p.His129Asn) c.646C>A (p.His216Asn) n.804C>A | gnomAD v4 |
| 11 | g.17387447G>A | CA473515671 | KCNJ11 | c.384C>T (p.Ile128=) c.645C>T (p.Ile215=) n.803C>T | |
| 11 | g.17387447G>C | CA379771854 | KCNJ11 | c.384C>G (p.Ile128Met) c.645C>G (p.Ile215Met) n.803C>G | |
| 11 | g.17387447G>T | CA473515672 | KCNJ11 | c.384C>A (p.Ile128=) c.645C>A (p.Ile215=) n.803C>A | |
| 11 | g.17387448A>C | CA379771859 | KCNJ11 | c.383T>G (p.Ile128Ser) c.644T>G (p.Ile215Ser) n.802T>G | |
| 11 | g.17387448A>G | CA379771862 | KCNJ11 | c.383T>C (p.Ile128Thr) c.644T>C (p.Ile215Thr) n.802T>C | |
| 11 | g.17387448A>T | CA379771875 | KCNJ11 | c.383T>A (p.Ile128Asn) c.644T>A (p.Ile215Asn) n.802T>A | |
| 11 | g.17387449T>A | CA379771886 | KCNJ11 | c.382A>T (p.Ile128Phe) c.643A>T (p.Ile215Phe) n.801A>T | |
| 11 | g.17387449T>C | CA379771882 | KCNJ11 | c.382A>G (p.Ile128Val) c.643A>G (p.Ile215Val) n.801A>G | |
| 11 | g.17387449T>G | CA379771879 | KCNJ11 | c.382A>C (p.Ile128Leu) c.643A>C (p.Ile215Leu) n.801A>C | |
| 11 | g.17387450G>A | CA473515675 | KCNJ11 | c.381C>T (p.Thr127=) c.642C>T (p.Thr214=) n.800C>T | gnomAD v4 |
| 11 | g.17387450G>C | CA473515674 | KCNJ11 | c.381C>G (p.Thr127=) c.642C>G (p.Thr214=) n.800C>G | |
| 11 | g.17387450G>T | CA473515673 | KCNJ11 | c.381C>A (p.Thr127=) c.642C>A (p.Thr214=) n.800C>A | |
| 11 | g.17387451G>A | CA379771897 | KCNJ11 | c.380C>T (p.Thr127Ile) c.641C>T (p.Thr214Ile) n.799C>T | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387451G>C | CA379771900 | KCNJ11 | c.380C>G (p.Thr127Ser) c.641C>G (p.Thr214Ser) n.799C>G | |
| 11 | g.17387451G= | CA1955119265 | KCNJ11 | c.380C= (p.Thr127=) c.641C= (p.Thr214=) n.799C= | |
| 11 | g.17387451G>T | CA379771904 | KCNJ11 | c.380C>A (p.Thr127Asn) c.641C>A (p.Thr214Asn) n.799C>A | |
| 11 | g.17387452T>A | CA379771910 | KCNJ11 | c.379A>T (p.Thr127Ser) c.640A>T (p.Thr214Ser) n.798A>T | |
| 11 | g.17387452T>C | CA379771913 | KCNJ11 | c.379A>G (p.Thr127Ala) c.640A>G (p.Thr214Ala) n.798A>G | |
| 11 | g.17387452T>G | CA379771915 | KCNJ11 | c.379A>C (p.Thr127Pro) c.640A>C (p.Thr214Pro) n.798A>C | dbSNP |
| 11 | g.17387452T= | CA1955119266 | KCNJ11 | c.379A= (p.Thr127=) c.640A= (p.Thr214=) n.798A= | |
| 11 | g.17387453G>A | CA473515676 | KCNJ11 | c.378C>T (p.Ala126=) c.639C>T (p.Ala213=) n.797C>T | |
| 11 | g.17387453G>C | CA473515677 | KCNJ11 | c.378C>G (p.Ala126=) c.639C>G (p.Ala213=) n.797C>G | |
| 11 | g.17387453G>T | CA473515678 | KCNJ11 | c.378C>A (p.Ala126=) c.639C>A (p.Ala213=) n.797C>A | |
| 11 | g.17387454del | CA2695201081 | KCNJ11 | c.378del (p.Thr127ProfsTer?) c.639del (p.Thr214ProfsTer?) n.797del | ClinVar |
| 11 | g.17387454G>A | CA379771918 | KCNJ11 | c.377C>T (p.Ala126Val) c.638C>T (p.Ala213Val) n.796C>T | |
| 11 | g.17387454G>C | CA379771920 | KCNJ11 | c.377C>G (p.Ala126Gly) c.638C>G (p.Ala213Gly) n.796C>G | |
| 11 | g.17387454G>T | CA379771922 | KCNJ11 | c.377C>A (p.Ala126Asp) c.638C>A (p.Ala213Asp) n.796C>A | |
| 11 | g.17387455C>A | CA379771929 | KCNJ11 | c.376G>T (p.Ala126Ser) c.637G>T (p.Ala213Ser) n.795G>T | |
| 11 | g.17387455C= | CA1955119267 | KCNJ11 | c.376G= (p.Ala126=) c.637G= (p.Ala213=) n.795G= | |
| 11 | g.17387455C>G | CA379771931 | KCNJ11 | c.376G>C (p.Ala126Pro) c.637G>C (p.Ala213Pro) n.795G>C | |
| 11 | g.17387455C>T | CA379771936 | KCNJ11 | c.376G>A (p.Ala126Thr) c.637G>A (p.Ala213Thr) n.795G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387456G>A | CA5902271 | KCNJ11 | c.375C>T (p.Ser125=) c.636C>T (p.Ser212=) n.794C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387456G>C | CA379771949 | KCNJ11 | c.375C>G (p.Ser125Arg) c.636C>G (p.Ser212Arg) n.794C>G | |
| 11 | g.17387456G= | CA1955119268 | KCNJ11 | c.375C= (p.Ser125=) c.636C= (p.Ser212=) n.794C= | |
| 11 | g.17387456G>T | CA379771945 | KCNJ11 | c.375C>A (p.Ser125Arg) c.636C>A (p.Ser212Arg) n.794C>A | gnomAD v4 |
| 11 | g.17387457C>A | CA379771953 | KCNJ11 | c.374G>T (p.Ser125Ile) c.635G>T (p.Ser212Ile) n.793G>T | |
| 11 | g.17387457C= | CA1955119269 | KCNJ11 | c.374G= (p.Ser125=) c.635G= (p.Ser212=) n.793G= | |
| 11 | g.17387457C>G | CA379771954 | KCNJ11 | c.374G>C (p.Ser125Thr) c.635G>C (p.Ser212Thr) n.793G>C | |
| 11 | g.17387457C>T | CA218399734 | KCNJ11 | c.374G>A (p.Ser125Asn) c.635G>A (p.Ser212Asn) n.793G>A | dbSNP gnomAD v4 |
| 11 | g.17387458T>A | CA379771958 | KCNJ11 | c.373A>T (p.Ser125Cys) c.634A>T (p.Ser212Cys) n.792A>T | |
| 11 | g.17387458T>C | CA379771960 | KCNJ11 | c.373A>G (p.Ser125Gly) c.634A>G (p.Ser212Gly) n.792A>G | |
| 11 | g.17387458T>G | CA379771959 | KCNJ11 | c.373A>C (p.Ser125Arg) c.634A>C (p.Ser212Arg) n.792A>C | |
| 11 | g.17387459G>A | CA473515679 | KCNJ11 | c.372C>T (p.Ile124=) c.633C>T (p.Ile211=) n.791C>T | COSMIC |
| 11 | g.17387459G>C | CA379771962 | KCNJ11 | c.372C>G (p.Ile124Met) c.633C>G (p.Ile211Met) n.791C>G | |
| 11 | g.17387459G>T | CA473515680 | KCNJ11 | c.372C>A (p.Ile124=) c.633C>A (p.Ile211=) n.791C>A | gnomAD v4 |
| 11 | g.17387460A>C | CA379771978 | KCNJ11 | c.371T>G (p.Ile124Ser) c.632T>G (p.Ile211Ser) n.790T>G | |
| 11 | g.17387460A>G | CA379771976 | KCNJ11 | c.371T>C (p.Ile124Thr) c.632T>C (p.Ile211Thr) n.790T>C | |
| 11 | g.17387460A>T | CA379771981 | KCNJ11 | c.371T>A (p.Ile124Asn) c.632T>A (p.Ile211Asn) n.790T>A | |
| 11 | g.17387461T>A | CA379771982 | KCNJ11 | c.370A>T (p.Ile124Phe) c.631A>T (p.Ile211Phe) n.789A>T | |
| 11 | g.17387461T>C | CA379771984 | KCNJ11 | c.370A>G (p.Ile124Val) c.631A>G (p.Ile211Val) n.789A>G | |
| 11 | g.17387461T>G | CA379771983 | KCNJ11 | c.370A>C (p.Ile124Leu) c.631A>C (p.Ile211Leu) n.789A>C | |
| 11 | g.17387462G>A | CA473515681 | KCNJ11 | c.369C>T (p.Ile123=) c.630C>T (p.Ile210=) n.788C>T | ClinVar dbSNP |
| 11 | g.17387462G>C | CA379771986 | KCNJ11 | c.369C>G (p.Ile123Met) c.630C>G (p.Ile210Met) n.788C>G | |
| 11 | g.17387462G= | CA1955119270 | KCNJ11 | c.369C= (p.Ile123=) c.630C= (p.Ile210=) n.788C= | |
| 11 | g.17387462G>T | CA473515682 | KCNJ11 | c.369C>A (p.Ile123=) c.630C>A (p.Ile210=) n.788C>A | |
| 11 | g.17387463A>C | CA379771993 | KCNJ11 | c.368T>G (p.Ile123Ser) c.629T>G (p.Ile210Ser) n.787T>G | |
| 11 | g.17387463A>G | CA379771990 | KCNJ11 | c.368T>C (p.Ile123Thr) c.629T>C (p.Ile210Thr) n.787T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387463A>T | CA379771992 | KCNJ11 | c.368T>A (p.Ile123Asn) c.629T>A (p.Ile210Asn) n.787T>A | |
| 11 | g.17387464T>A | CA379771995 | KCNJ11 | c.367A>T (p.Ile123Phe) c.628A>T (p.Ile210Phe) n.786A>T | |
| 11 | g.17387464T>C | CA379771997 | KCNJ11 | c.367A>G (p.Ile123Val) c.628A>G (p.Ile210Val) n.786A>G | |
| 11 | g.17387464T>G | CA379772001 | KCNJ11 | c.367A>C (p.Ile123Leu) c.628A>C (p.Ile210Leu) n.786A>C | |
| 11 | g.17387465C>A | CA379772005 | KCNJ11 | c.366G>T (p.Met122Ile) c.627G>T (p.Met209Ile) n.785G>T | |
| 11 | g.17387465C>G | CA379772008 | KCNJ11 | c.366G>C (p.Met122Ile) c.627G>C (p.Met209Ile) n.785G>C | |
| 11 | g.17387465C>T | CA379772014 | KCNJ11 | c.366G>A (p.Met122Ile) c.627G>A (p.Met209Ile) n.785G>A | gnomAD v4 |
| 11 | g.17387466A>C | CA379772020 | KCNJ11 | c.365T>G (p.Met122Arg) c.626T>G (p.Met209Arg) n.784T>G | |
| 11 | g.17387466A>G | CA379772023 | KCNJ11 | c.365T>C (p.Met122Thr) c.626T>C (p.Met209Thr) n.784T>C | |
| 11 | g.17387466A>T | CA379772028 | KCNJ11 | c.365T>A (p.Met122Lys) c.626T>A (p.Met209Lys) n.784T>A | |
| 11 | g.17387467T>A | CA379772049 | KCNJ11 | c.364A>T (p.Met122Leu) c.625A>T (p.Met209Leu) n.783A>T | |
| 11 | g.17387467T>C | CA379772045 | KCNJ11 | c.364A>G (p.Met122Val) c.625A>G (p.Met209Val) n.783A>G | ClinVar gnomAD v4 |
| 11 | g.17387467T>G | CA379772043 | KCNJ11 | c.364A>C (p.Met122Leu) c.625A>C (p.Met209Leu) n.783A>C | |
| 11 | g.17387468G>A | CA473515683 | KCNJ11 | c.363C>T (p.Ser121=) c.624C>T (p.Ser208=) n.782C>T | gnomAD v4 |
| 11 | g.17387468G>C | CA379772053 | KCNJ11 | c.363C>G (p.Ser121Arg) c.624C>G (p.Ser208Arg) n.782C>G | |
| 11 | g.17387468G>T | CA379772059 | KCNJ11 | c.363C>A (p.Ser121Arg) c.624C>A (p.Ser208Arg) n.782C>A | |
| 11 | g.17387469C>A | CA379772066 | KCNJ11 | c.362G>T (p.Ser121Ile) c.623G>T (p.Ser208Ile) n.781G>T | |
| 11 | g.17387469C>G | CA379772072 | KCNJ11 | c.362G>C (p.Ser121Thr) c.623G>C (p.Ser208Thr) n.781G>C | |
| 11 | g.17387469C>T | CA379772076 | KCNJ11 | c.362G>A (p.Ser121Asn) c.623G>A (p.Ser208Asn) n.781G>A | |
| 11 | g.17387470T>A | CA379772086 | KCNJ11 | c.361A>T (p.Ser121Cys) c.622A>T (p.Ser208Cys) n.780A>T | |
| 11 | g.17387470T>C | CA379772090 | KCNJ11 | c.361A>G (p.Ser121Gly) c.622A>G (p.Ser208Gly) n.780A>G | |
| 11 | g.17387470T>G | CA379772091 | KCNJ11 | c.361A>C (p.Ser121Arg) c.622A>C (p.Ser208Arg) n.780A>C | |
| 11 | g.17387471C>A | CA379772092 | KCNJ11 | c.360G>T (p.Lys120Asn) c.621G>T (p.Lys207Asn) n.779G>T | |
| 11 | g.17387471C= | CA1955119271 | KCNJ11 | c.360G= (p.Lys120=) c.621G= (p.Lys207=) n.779G= | |
| 11 | g.17387471C>G | CA379772093 | KCNJ11 | c.360G>C (p.Lys120Asn) c.621G>C (p.Lys207Asn) n.779G>C | dbSNP |
| 11 | g.17387471C>T | CA5902272 | KCNJ11 | c.360G>A (p.Lys120=) c.621G>A (p.Lys207=) n.779G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387472T>A | CA379772114 | KCNJ11 | c.359A>T (p.Lys120Met) c.620A>T (p.Lys207Met) n.778A>T | |
| 11 | g.17387472T>C | CA379772103 | KCNJ11 | c.359A>G (p.Lys120Arg) c.620A>G (p.Lys207Arg) n.778A>G | |
| 11 | g.17387472T>G | CA379772100 | KCNJ11 | c.359A>C (p.Lys120Thr) c.620A>C (p.Lys207Thr) n.778A>C | |
| 11 | g.17387473T>A | CA379772130 | KCNJ11 | c.358A>T (p.Lys120Ter) c.619A>T (p.Lys207Ter) n.777A>T | |
| 11 | g.17387473T>C | CA379772132 | KCNJ11 | c.358A>G (p.Lys120Glu) c.619A>G (p.Lys207Glu) n.777A>G | |
| 11 | g.17387473T>G | CA379772134 | KCNJ11 | c.358A>C (p.Lys120Gln) c.619A>C (p.Lys207Gln) n.777A>C | |
| 11 | g.17387474G>A | CA473515684 | KCNJ11 | c.357C>T (p.Arg119=) c.618C>T (p.Arg206=) n.776C>T | |
| 11 | g.17387474G>C | CA473515685 | KCNJ11 | c.357C>G (p.Arg119=) c.618C>G (p.Arg206=) n.776C>G | |
| 11 | g.17387474G>T | CA473515686 | KCNJ11 | c.357C>A (p.Arg119=) c.618C>A (p.Arg206=) n.776C>A | |
| 11 | g.17387475C>A | CA379772137 | KCNJ11 | c.356G>T (p.Arg119Leu) c.617G>T (p.Arg206Leu) n.775G>T | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387475C= | CA1955119272 | KCNJ11 | c.356G= (p.Arg119=) c.617G= (p.Arg206=) n.775G= | |
| 11 | g.17387475C>G | CA379772140 | KCNJ11 | c.356G>C (p.Arg119Pro) c.617G>C (p.Arg206Pro) n.775G>C | |
| 11 | g.17387475C>T | CA379772144 | KCNJ11 | c.356G>A (p.Arg119His) c.617G>A (p.Arg206His) n.775G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| 11 | g.17387476G>A | CA5902273 | KCNJ11 | c.355C>T (p.Arg119Cys) c.616C>T (p.Arg206Cys) n.774C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387476G>C | CA379772150 | KCNJ11 | c.355C>G (p.Arg119Gly) c.616C>G (p.Arg206Gly) n.774C>G | |
| 11 | g.17387476G= | CA1955119273 | KCNJ11 | c.355C= (p.Arg119=) c.616C= (p.Arg206=) n.774C= | |
| 11 | g.17387476G>T | CA379772156 | KCNJ11 | c.355C>A (p.Arg119Ser) c.616C>A (p.Arg206Ser) n.774C>A | |
| 11 | g.17387477G>A | CA473515687 | KCNJ11 | c.354C>T (p.Leu118=) c.615C>T (p.Leu205=) n.773C>T | ClinVar dbSNP |
| 11 | g.17387477G>C | CA473515689 | KCNJ11 | c.354C>G (p.Leu118=) c.615C>G (p.Leu205=) n.773C>G | |
| 11 | g.17387477G>T | CA473515688 | KCNJ11 | c.354C>A (p.Leu118=) c.615C>A (p.Leu205=) n.773C>A | |
| 11 | g.17387478A>C | CA379772157 | KCNJ11 | c.353T>G (p.Leu118Arg) c.614T>G (p.Leu205Arg) n.772T>G | |
| 11 | g.17387478A>G | CA379772158 | KCNJ11 | c.353T>C (p.Leu118Pro) c.614T>C (p.Leu205Pro) n.772T>C | |
| 11 | g.17387478A>T | CA379772160 | KCNJ11 | c.353T>A (p.Leu118His) c.614T>A (p.Leu205His) n.772T>A | |
| 11 | g.17387479G>A | CA379772173 | KCNJ11 | c.352C>T (p.Leu118Phe) c.613C>T (p.Leu205Phe) n.771C>T | ClinVar |
| 11 | g.17387479G>C | CA379772164 | KCNJ11 | c.352C>G (p.Leu118Val) c.613C>G (p.Leu205Val) n.771C>G | |
| 11 | g.17387479G>T | CA379772169 | KCNJ11 | c.352C>A (p.Leu118Ile) c.613C>A (p.Leu205Ile) n.771C>A | |
| 11 | g.17387479_17387480del | CA2612638825 | KCNJ11 | c.351_352del (p.Leu118ProfsTer?) c.612_613del (p.Leu205ProfsTer?) n.770_771del | gnomAD v4 |
| 11 | g.17387480G>A | CA473515690 | KCNJ11 | c.351C>T (p.Asp117=) c.612C>T (p.Asp204=) n.770C>T | |
| 11 | g.17387480G>C | CA379772178 | KCNJ11 | c.351C>G (p.Asp117Glu) c.612C>G (p.Asp204Glu) n.770C>G | |
| 11 | g.17387480G= | CA1955119274 | KCNJ11 | c.351C= (p.Asp117=) c.612C= (p.Asp204=) n.770C= | |
| 11 | g.17387480G>T | CA218399743 | KCNJ11 | c.351C>A (p.Asp117Glu) c.612C>A (p.Asp204Glu) n.770C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387481T>A | CA379772188 | KCNJ11 | c.350A>T (p.Asp117Val) c.611A>T (p.Asp204Val) n.769A>T | |
| 11 | g.17387481T>C | CA379772189 | KCNJ11 | c.350A>G (p.Asp117Gly) c.611A>G (p.Asp204Gly) n.769A>G | |
| 11 | g.17387481T>G | CA379772191 | KCNJ11 | c.350A>C (p.Asp117Ala) c.611A>C (p.Asp204Ala) n.769A>C | dbSNP |
| 11 | g.17387481T= | CA1955119275 | KCNJ11 | c.350A= (p.Asp117=) c.611A= (p.Asp204=) n.769A= | |
| 11 | g.17387482C>A | CA379772196 | KCNJ11 | c.349G>T (p.Asp117Tyr) c.610G>T (p.Asp204Tyr) n.768G>T | |
| 11 | g.17387482C>G | CA379772197 | KCNJ11 | c.349G>C (p.Asp117His) c.610G>C (p.Asp204His) n.768G>C | |
| 11 | g.17387482C>T | CA379772201 | KCNJ11 | c.349G>A (p.Asp117Asn) c.610G>A (p.Asp204Asn) n.768G>A | gnomAD v4 |
| 11 | g.17387483A>C | CA473515691 | KCNJ11 | c.348T>G (p.Gly116=) c.609T>G (p.Gly203=) n.767T>G | |
| 11 | g.17387483A>G | CA473515692 | KCNJ11 | c.348T>C (p.Gly116=) c.609T>C (p.Gly203=) n.767T>C | |
| 11 | g.17387483A>T | CA473515693 | KCNJ11 | c.348T>A (p.Gly116=) c.609T>A (p.Gly203=) n.767T>A | |
| 11 | g.17387484C>A | CA379772207 | KCNJ11 | c.347G>T (p.Gly116Val) c.608G>T (p.Gly203Val) n.766G>T | |
| 11 | g.17387484C>G | CA379772213 | KCNJ11 | c.347G>C (p.Gly116Ala) c.608G>C (p.Gly203Ala) n.766G>C | |
| 11 | g.17387484C>T | CA379772217 | KCNJ11 | c.347G>A (p.Gly116Asp) c.608G>A (p.Gly203Asp) n.766G>A | gnomAD v4 |
| 11 | g.17387485C>A | CA379772225 | KCNJ11 | c.346G>T (p.Gly116Cys) c.607G>T (p.Gly203Cys) n.765G>T | |
| 11 | g.17387485C>G | CA379772222 | KCNJ11 | c.346G>C (p.Gly116Arg) c.607G>C (p.Gly203Arg) n.765G>C | |
| 11 | g.17387485C>T | CA379772219 | KCNJ11 | c.346G>A (p.Gly116Ser) c.607G>A (p.Gly203Ser) n.765G>A | COSMIC |
| 11 | g.17387486C>A | CA473515694 | KCNJ11 | c.345G>T (p.Val115=) c.606G>T (p.Val202=) n.764G>T | |
| 11 | g.17387486C= | CA1955119276 | KCNJ11 | c.345G= (p.Val115=) c.606G= (p.Val202=) n.764G= | |
| 11 | g.17387486C>G | CA473515695 | KCNJ11 | c.345G>C (p.Val115=) c.606G>C (p.Val202=) n.764G>C | |
| 11 | g.17387486C>T | CA473515696 | KCNJ11 | c.345G>A (p.Val115=) c.606G>A (p.Val202=) n.764G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387487A= | CA1955119277 | KCNJ11 | c.344T= (p.Val115=) c.605T= (p.Val202=) n.763T= | |
| 11 | g.17387487A>C | CA379772233 | KCNJ11 | c.344T>G (p.Val115Gly) c.605T>G (p.Val202Gly) n.763T>G | |
| 11 | g.17387487A>G | CA379772238 | KCNJ11 | c.344T>C (p.Val115Ala) c.605T>C (p.Val202Ala) n.763T>C | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387487A>T | CA379772240 | KCNJ11 | c.344T>A (p.Val115Glu) c.605T>A (p.Val202Glu) n.763T>A | |
| 11 | g.17387488C>A | CA379772248 | KCNJ11 | c.343G>T (p.Val115Leu) c.604G>T (p.Val202Leu) n.762G>T | gnomAD v4 |
| 11 | g.17387488C>G | CA379772267 | KCNJ11 | c.343G>C (p.Val115Leu) c.604G>C (p.Val202Leu) n.762G>C | |
| 11 | g.17387488C>T | CA379772272 | KCNJ11 | c.343G>A (p.Val115Met) c.604G>A (p.Val202Met) n.762G>A | gnomAD v4 |
| 11 | g.17387489A>C | CA473515697 | KCNJ11 | c.342T>G (p.Arg114=) c.603T>G (p.Arg201=) n.761T>G | |
| 11 | g.17387489A>G | CA473515698 | KCNJ11 | c.342T>C (p.Arg114=) c.603T>C (p.Arg201=) n.761T>C | gnomAD v4 |
| 11 | g.17387489A>T | CA473515699 | KCNJ11 | c.342T>A (p.Arg114=) c.603T>A (p.Arg201=) n.761T>A | |
| 11 | g.17387490C>A | CA341724 | KCNJ11 | c.341G>T (p.Arg114Leu) c.602G>T (p.Arg201Leu) n.760G>T | ClinVar dbSNP |
| 11 | g.17387490C= | CA1955119278 | KCNJ11 | c.341G= (p.Arg114=) c.602G= (p.Arg201=) n.760G= | |
| 11 | g.17387490C>G | CA379772284 | KCNJ11 | c.341G>C (p.Arg114Pro) c.602G>C (p.Arg201Pro) n.760G>C | gnomAD v4 |
| 11 | g.17387490C>T | CA119821 | KCNJ11 | c.341G>A (p.Arg114His) c.602G>A (p.Arg201His) n.760G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387491G>A | CA119825 | KCNJ11 | c.340C>T (p.Arg114Cys) c.601C>T (p.Arg201Cys) n.759C>T | ClinVar dbSNP |
| 11 | g.17387491G>C | CA379772294 | KCNJ11 | c.340C>G (p.Arg114Gly) c.601C>G (p.Arg201Gly) n.759C>G | |
| 11 | g.17387491G= | CA1955119279 | KCNJ11 | c.340C= (p.Arg114=) c.601C= (p.Arg201=) n.759C= | |
| 11 | g.17387491G>T | CA379772296 | KCNJ11 | c.340C>A (p.Arg114Ser) c.601C>A (p.Arg201Ser) n.759C>A |