Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.128839524A>C | CA383244167 | KCNJ1 | c.720T>G (p.Asn240Lys) c.777T>G (p.Asn259Lys) c.771T>G (p.Asn257Lys) | |
11 | g.128839524A>G | CA477703016 | KCNJ1 | c.720T>C (p.Asn240=) c.777T>C (p.Asn259=) c.771T>C (p.Asn257=) | |
11 | g.128839524A>T | CA383244169 | KCNJ1 | c.720T>A (p.Asn240Lys) c.777T>A (p.Asn259Lys) c.771T>A (p.Asn257Lys) | |
11 | g.128839525T>A | CA383244176 | KCNJ1 | c.719A>T (p.Asn240Ile) c.776A>T (p.Asn259Ile) c.770A>T (p.Asn257Ile) | |
11 | g.128839525T>C | CA383244173 | KCNJ1 | c.719A>G (p.Asn240Ser) c.776A>G (p.Asn259Ser) c.770A>G (p.Asn257Ser) | |
11 | g.128839525T>G | CA216047 | KCNJ1 | c.719A>C (p.Asn240Thr) c.776A>C (p.Asn259Thr) c.770A>C (p.Asn257Thr) | ClinVar dbSNP |
11 | g.128839525T= | CA2008286649 | KCNJ1 | c.719A= (p.Asn240=) c.776A= (p.Asn259=) c.770A= (p.Asn257=) | |
11 | g.128839525_128839526insACAAACACATATACAGAAAC | CA2616771382 | KCNJ1 | c.718_719insGTTTCTGTATATGTGTTTGT (p.Asn240SerfsTer15) c.775_776insGTTTCTGTATATGTGTTTGT (p.Asn259SerfsTer15) c.769_770insGTTTCTGTATATGTGTTTGT (p.Asn257SerfsTer15) | gnomAD v4 |
11 | g.128839526T>A | CA383244179 | KCNJ1 | c.718A>T (p.Asn240Tyr) c.775A>T (p.Asn259Tyr) c.769A>T (p.Asn257Tyr) | gnomAD v4 |
11 | g.128839526T>C | CA383244181 | KCNJ1 | c.718A>G (p.Asn240Asp) c.775A>G (p.Asn259Asp) c.769A>G (p.Asn257Asp) | |
11 | g.128839526T>G | CA383244183 | KCNJ1 | c.718A>C (p.Asn240His) c.775A>C (p.Asn259His) c.769A>C (p.Asn257His) | |
11 | g.128839527T>A | CA383244186 | KCNJ1 | c.717A>T (p.Glu239Asp) c.774A>T (p.Glu258Asp) c.768A>T (p.Glu256Asp) | |
11 | g.128839527T>C | CA477703017 | KCNJ1 | c.717A>G (p.Glu239=) c.774A>G (p.Glu258=) c.768A>G (p.Glu256=) | |
11 | g.128839527T>G | CA383244188 | KCNJ1 | c.717A>C (p.Glu239Asp) c.774A>C (p.Glu258Asp) c.768A>C (p.Glu256Asp) | |
11 | g.128839528T>A | CA383244191 | KCNJ1 | c.716A>T (p.Glu239Val) c.773A>T (p.Glu258Val) c.767A>T (p.Glu256Val) | |
11 | g.128839528T>C | CA383244193 | KCNJ1 | c.716A>G (p.Glu239Gly) c.773A>G (p.Glu258Gly) c.767A>G (p.Glu256Gly) | |
11 | g.128839528T>G | CA383244196 | KCNJ1 | c.716A>C (p.Glu239Ala) c.773A>C (p.Glu258Ala) c.767A>C (p.Glu256Ala) | |
11 | g.128839529C>A | CA383244199 | KCNJ1 | c.715G>T (p.Glu239Ter) c.772G>T (p.Glu258Ter) c.766G>T (p.Glu256Ter) | |
11 | g.128839529C>G | CA383244201 | KCNJ1 | c.715G>C (p.Glu239Gln) c.772G>C (p.Glu258Gln) c.766G>C (p.Glu256Gln) | |
11 | g.128839529C>T | CA383244203 | KCNJ1 | c.715G>A (p.Glu239Lys) c.772G>A (p.Glu258Lys) c.766G>A (p.Glu256Lys) | gnomAD v4 COSMIC |
11 | g.128839530A= | CA2008286655 | KCNJ1 | c.714T= (p.Asn238=) c.771T= (p.Asn257=) c.765T= (p.Asn255=) | |
11 | g.128839530A>C | CA383244208 | KCNJ1 | c.714T>G (p.Asn238Lys) c.771T>G (p.Asn257Lys) c.765T>G (p.Asn255Lys) | dbSNP gnomAD v4 |
11 | g.128839530A>G | CA6357467 | KCNJ1 | c.714T>C (p.Asn238=) c.771T>C (p.Asn257=) c.765T>C (p.Asn255=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839530A>T | CA383244206 | KCNJ1 | c.714T>A (p.Asn238Lys) c.771T>A (p.Asn257Lys) c.765T>A (p.Asn255Lys) | |
11 | g.128839531T>A | CA383244210 | KCNJ1 | c.713A>T (p.Asn238Ile) c.770A>T (p.Asn257Ile) c.764A>T (p.Asn255Ile) | |
11 | g.128839531T>C | CA383244212 | KCNJ1 | c.713A>G (p.Asn238Ser) c.770A>G (p.Asn257Ser) c.764A>G (p.Asn255Ser) | gnomAD v4 |
11 | g.128839531T>G | CA383244214 | KCNJ1 | c.713A>C (p.Asn238Thr) c.770A>C (p.Asn257Thr) c.764A>C (p.Asn255Thr) | |
11 | g.128839532T>A | CA383244216 | KCNJ1 | c.712A>T (p.Asn238Tyr) c.769A>T (p.Asn257Tyr) c.763A>T (p.Asn255Tyr) | |
11 | g.128839532T>C | CA383244217 | KCNJ1 | c.712A>G (p.Asn238Asp) c.769A>G (p.Asn257Asp) c.763A>G (p.Asn255Asp) | |
11 | g.128839532T>G | CA383244218 | KCNJ1 | c.712A>C (p.Asn238His) c.769A>C (p.Asn257His) c.763A>C (p.Asn255His) | |
11 | g.128839533C>A | CA477703108 | KCNJ1 | c.711G>T (p.Gly237=) c.768G>T (p.Gly256=) c.762G>T (p.Gly254=) | |
11 | g.128839533C= | CA2008286659 | KCNJ1 | c.711G= (p.Gly237=) c.768G= (p.Gly256=) c.762G= (p.Gly254=) | |
11 | g.128839533C>G | CA477703110 | KCNJ1 | c.711G>C (p.Gly237=) c.768G>C (p.Gly256=) c.762G>C (p.Gly254=) | |
11 | g.128839533C>T | CA6357468 | KCNJ1 | c.711G>A (p.Gly237=) c.768G>A (p.Gly256=) c.762G>A (p.Gly254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839534C>A | CA383244223 | KCNJ1 | c.710G>T (p.Gly237Val) c.767G>T (p.Gly256Val) c.761G>T (p.Gly254Val) | |
11 | g.128839534C= | CA2008286661 | KCNJ1 | c.710G= (p.Gly237=) c.767G= (p.Gly256=) c.761G= (p.Gly254=) | |
11 | g.128839534C>G | CA230628273 | KCNJ1 | c.710G>C (p.Gly237Ala) c.767G>C (p.Gly256Ala) c.761G>C (p.Gly254Ala) | dbSNP |
11 | g.128839534C>T | CA383244226 | KCNJ1 | c.710G>A (p.Gly237Glu) c.767G>A (p.Gly256Glu) c.761G>A (p.Gly254Glu) | COSMIC |
11 | g.128839535C>A | CA383244229 | KCNJ1 | c.709G>T (p.Gly237Trp) c.766G>T (p.Gly256Trp) c.760G>T (p.Gly254Trp) | |
11 | g.128839535C>G | CA383244231 | KCNJ1 | c.709G>C (p.Gly237Arg) c.766G>C (p.Gly256Arg) c.760G>C (p.Gly254Arg) | |
11 | g.128839535C>T | CA383244234 | KCNJ1 | c.709G>A (p.Gly237Arg) c.766G>A (p.Gly256Arg) c.760G>A (p.Gly254Arg) | |
11 | g.128839536A>C | CA477703118 | KCNJ1 | c.708T>G (p.Ala236=) c.765T>G (p.Ala255=) c.759T>G (p.Ala253=) | |
11 | g.128839536A>G | CA477703120 | KCNJ1 | c.708T>C (p.Ala236=) c.765T>C (p.Ala255=) c.759T>C (p.Ala253=) | |
11 | g.128839536A>T | CA477703122 | KCNJ1 | c.708T>A (p.Ala236=) c.765T>A (p.Ala255=) c.759T>A (p.Ala253=) | |
11 | g.128839537G>A | CA383244238 | KCNJ1 | c.707C>T (p.Ala236Val) c.764C>T (p.Ala255Val) c.758C>T (p.Ala253Val) | gnomAD v4 |
11 | g.128839537G>C | CA383244235 | KCNJ1 | c.707C>G (p.Ala236Gly) c.764C>G (p.Ala255Gly) c.758C>G (p.Ala253Gly) | |
11 | g.128839537G= | CA2008286663 | KCNJ1 | c.707C= (p.Ala236=) c.764C= (p.Ala255=) c.758C= (p.Ala253=) | |
11 | g.128839537G>T | CA383244237 | KCNJ1 | c.707C>A (p.Ala236Asp) c.764C>A (p.Ala255Asp) c.758C>A (p.Ala253Asp) | dbSNP |
11 | g.128839538C>A | CA230628276 | KCNJ1 | c.706G>T (p.Ala236Ser) c.763G>T (p.Ala255Ser) c.757G>T (p.Ala253Ser) | dbSNP |
11 | g.128839538C= | CA2008286665 | KCNJ1 | c.706G= (p.Ala236=) c.763G= (p.Ala255=) c.757G= (p.Ala253=) | |
11 | g.128839538C>G | CA383244244 | KCNJ1 | c.706G>C (p.Ala236Pro) c.763G>C (p.Ala255Pro) c.757G>C (p.Ala253Pro) | |
11 | g.128839538C>T | CA6357469 | KCNJ1 | c.706G>A (p.Ala236Thr) c.763G>A (p.Ala255Thr) c.757G>A (p.Ala253Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839539G>A | CA6357470 | KCNJ1 | c.705C>T (p.Asp235=) c.762C>T (p.Asp254=) c.756C>T (p.Asp252=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839539G>C | CA383244250 | KCNJ1 | c.705C>G (p.Asp235Glu) c.762C>G (p.Asp254Glu) c.756C>G (p.Asp252Glu) | |
11 | g.128839539G= | CA2008286674 | KCNJ1 | c.705C= (p.Asp235=) c.762C= (p.Asp254=) c.756C= (p.Asp252=) | |
11 | g.128839539G>T | CA383244252 | KCNJ1 | c.705C>A (p.Asp235Glu) c.762C>A (p.Asp254Glu) c.756C>A (p.Asp252Glu) | |
11 | g.128839540T>A | CA383244256 | KCNJ1 | c.704A>T (p.Asp235Val) c.761A>T (p.Asp254Val) c.755A>T (p.Asp252Val) | |
11 | g.128839540T>C | CA383244258 | KCNJ1 | c.704A>G (p.Asp235Gly) c.761A>G (p.Asp254Gly) c.755A>G (p.Asp252Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839540T>G | CA383244260 | KCNJ1 | c.704A>C (p.Asp235Ala) c.761A>C (p.Asp254Ala) c.755A>C (p.Asp252Ala) | |
11 | g.128839540T= | CA2008286677 | KCNJ1 | c.704A= (p.Asp235=) c.761A= (p.Asp254=) c.755A= (p.Asp252=) | |
11 | g.128839541C>A | CA383244264 | KCNJ1 | c.703G>T (p.Asp235Tyr) c.760G>T (p.Asp254Tyr) c.754G>T (p.Asp252Tyr) | |
11 | g.128839541C= | CA2008286679 | KCNJ1 | c.703G= (p.Asp235=) c.760G= (p.Asp254=) c.754G= (p.Asp252=) | |
11 | g.128839541C>G | CA383244266 | KCNJ1 | c.703G>C (p.Asp235His) c.760G>C (p.Asp254His) c.754G>C (p.Asp252His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839541C>T | CA383244268 | KCNJ1 | c.703G>A (p.Asp235Asn) c.760G>A (p.Asp254Asn) c.754G>A (p.Asp252Asn) | gnomAD v4 |
11 | g.128839542A= | CA2008286682 | KCNJ1 | c.702T= (p.Val234=) c.759T= (p.Val253=) c.753T= (p.Val251=) | |
11 | g.128839542A>C | CA477703124 | KCNJ1 | c.702T>G (p.Val234=) c.759T>G (p.Val253=) c.753T>G (p.Val251=) | |
11 | g.128839542A>G | CA6357471 | KCNJ1 | c.702T>C (p.Val234=) c.759T>C (p.Val253=) c.753T>C (p.Val251=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839542A>T | CA477703125 | KCNJ1 | c.702T>A (p.Val234=) c.759T>A (p.Val253=) c.753T>A (p.Val251=) | |
11 | g.128839543A= | CA2008286683 | KCNJ1 | c.701T= (p.Val234=) c.758T= (p.Val253=) c.752T= (p.Val251=) | |
11 | g.128839543A>C | CA383244275 | KCNJ1 | c.701T>G (p.Val234Gly) c.758T>G (p.Val253Gly) c.752T>G (p.Val251Gly) | |
11 | g.128839543A>G | CA230628283 | KCNJ1 | c.701T>C (p.Val234Ala) c.758T>C (p.Val253Ala) c.752T>C (p.Val251Ala) | dbSNP |
11 | g.128839543A>T | CA383244278 | KCNJ1 | c.701T>A (p.Val234Asp) c.758T>A (p.Val253Asp) c.752T>A (p.Val251Asp) | |
11 | g.128839544C>A | CA383244281 | KCNJ1 | c.700G>T (p.Val234Phe) c.757G>T (p.Val253Phe) c.751G>T (p.Val251Phe) | |
11 | g.128839544C>G | CA383244286 | KCNJ1 | c.700G>C (p.Val234Leu) c.757G>C (p.Val253Leu) c.751G>C (p.Val251Leu) | |
11 | g.128839544C>T | CA383244284 | KCNJ1 | c.700G>A (p.Val234Ile) c.757G>A (p.Val253Ile) c.751G>A (p.Val251Ile) | |
11 | g.128839545T>A | CA477703127 | KCNJ1 | c.699A>T (p.Val233=) c.756A>T (p.Val252=) c.750A>T (p.Val250=) | |
11 | g.128839545T>C | CA477703128 | KCNJ1 | c.699A>G (p.Val233=) c.756A>G (p.Val252=) c.750A>G (p.Val250=) | COSMIC |
11 | g.128839545T>G | CA477703129 | KCNJ1 | c.699A>C (p.Val233=) c.756A>C (p.Val252=) c.750A>C (p.Val250=) | |
11 | g.128839546A>C | CA383244288 | KCNJ1 | c.698T>G (p.Val233Gly) c.755T>G (p.Val252Gly) c.749T>G (p.Val250Gly) | |
11 | g.128839546A>G | CA383244289 | KCNJ1 | c.698T>C (p.Val233Ala) c.755T>C (p.Val252Ala) c.749T>C (p.Val250Ala) | |
11 | g.128839546A>T | CA383244290 | KCNJ1 | c.698T>A (p.Val233Glu) c.755T>A (p.Val252Glu) c.749T>A (p.Val250Glu) | |
11 | g.128839547C>A | CA383244293 | KCNJ1 | c.697G>T (p.Val233Leu) c.754G>T (p.Val252Leu) c.748G>T (p.Val250Leu) | |
11 | g.128839547C>G | CA383244295 | KCNJ1 | c.697G>C (p.Val233Leu) c.754G>C (p.Val252Leu) c.748G>C (p.Val250Leu) | |
11 | g.128839547C>T | CA383244296 | KCNJ1 | c.697G>A (p.Val233Ile) c.754G>A (p.Val252Ile) c.748G>A (p.Val250Ile) | gnomAD v4 |
11 | g.128839548A>C | CA383244299 | KCNJ1 | c.696T>G (p.Phe232Leu) c.753T>G (p.Phe251Leu) c.747T>G (p.Phe249Leu) | |
11 | g.128839548A>G | CA477703135 | KCNJ1 | c.696T>C (p.Phe232=) c.753T>C (p.Phe251=) c.747T>C (p.Phe249=) | |
11 | g.128839548A>T | CA383244301 | KCNJ1 | c.696T>A (p.Phe232Leu) c.753T>A (p.Phe251Leu) c.747T>A (p.Phe249Leu) | |
11 | g.128839549A= | CA2008286685 | KCNJ1 | c.695T= (p.Phe232=) c.752T= (p.Phe251=) c.746T= (p.Phe249=) | |
11 | g.128839549A>C | CA383244304 | KCNJ1 | c.695T>G (p.Phe232Cys) c.752T>G (p.Phe251Cys) c.746T>G (p.Phe249Cys) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839549A>G | CA383244306 | KCNJ1 | c.695T>C (p.Phe232Ser) c.752T>C (p.Phe251Ser) c.746T>C (p.Phe249Ser) | |
11 | g.128839549A>T | CA383244308 | KCNJ1 | c.695T>A (p.Phe232Tyr) c.752T>A (p.Phe251Tyr) c.746T>A (p.Phe249Tyr) | |
11 | g.128839550A>C | CA383244315 | KCNJ1 | c.694T>G (p.Phe232Val) c.751T>G (p.Phe251Val) c.745T>G (p.Phe249Val) | |
11 | g.128839550A>G | CA383244314 | KCNJ1 | c.694T>C (p.Phe232Leu) c.751T>C (p.Phe251Leu) c.745T>C (p.Phe249Leu) | |
11 | g.128839550A>T | CA383244312 | KCNJ1 | c.694T>A (p.Phe232Ile) c.751T>A (p.Phe251Ile) c.745T>A (p.Phe249Ile) | |
11 | g.128839551G>A | CA477703139 | KCNJ1 | c.693C>T (p.Asn231=) c.750C>T (p.Asn250=) c.744C>T (p.Asn248=) | gnomAD v4 |
11 | g.128839551G>C | CA230628285 | KCNJ1 | c.693C>G (p.Asn231Lys) c.750C>G (p.Asn250Lys) c.744C>G (p.Asn248Lys) | dbSNP |
11 | g.128839551G= | CA2008286687 | KCNJ1 | c.693C= (p.Asn231=) c.750C= (p.Asn250=) c.744C= (p.Asn248=) | |
11 | g.128839551G>T | CA383244319 | KCNJ1 | c.693C>A (p.Asn231Lys) c.750C>A (p.Asn250Lys) c.744C>A (p.Asn248Lys) | |
11 | g.128839552T>A | CA383244322 | KCNJ1 | c.692A>T (p.Asn231Ile) c.749A>T (p.Asn250Ile) c.743A>T (p.Asn248Ile) | |
11 | g.128839552T>C | CA6357472 | KCNJ1 | c.692A>G (p.Asn231Ser) c.749A>G (p.Asn250Ser) c.743A>G (p.Asn248Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839552T>G | CA383244325 | KCNJ1 | c.692A>C (p.Asn231Thr) c.749A>C (p.Asn250Thr) c.743A>C (p.Asn248Thr) | |
11 | g.128839552T= | CA2008286695 | KCNJ1 | c.692A= (p.Asn231=) c.749A= (p.Asn250=) c.743A= (p.Asn248=) | |
11 | g.128839553T>A | CA383244329 | KCNJ1 | c.691A>T (p.Asn231Tyr) c.748A>T (p.Asn250Tyr) c.742A>T (p.Asn248Tyr) | |
11 | g.128839553T>C | CA6357473 | KCNJ1 | c.691A>G (p.Asn231Asp) c.748A>G (p.Asn250Asp) c.742A>G (p.Asn248Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839553T>G | CA383244332 | KCNJ1 | c.691A>C (p.Asn231His) c.748A>C (p.Asn250His) c.742A>C (p.Asn248His) | |
11 | g.128839553T= | CA2008286698 | KCNJ1 | c.691A= (p.Asn231=) c.748A= (p.Asn250=) c.742A= (p.Asn248=) | |
11 | g.128839554G>A | CA477703143 | KCNJ1 | c.690C>T (p.Ile230=) c.747C>T (p.Ile249=) c.741C>T (p.Ile247=) | |
11 | g.128839554G>C | CA383244336 | KCNJ1 | c.690C>G (p.Ile230Met) c.747C>G (p.Ile249Met) c.741C>G (p.Ile247Met) | |
11 | g.128839554G>T | CA477703144 | KCNJ1 | c.690C>A (p.Ile230=) c.747C>A (p.Ile249=) c.741C>A (p.Ile247=) | |
11 | g.128839555A>C | CA383244339 | KCNJ1 | c.689T>G (p.Ile230Ser) c.746T>G (p.Ile249Ser) c.740T>G (p.Ile247Ser) | |
11 | g.128839555A>G | CA383244342 | KCNJ1 | c.689T>C (p.Ile230Thr) c.746T>C (p.Ile249Thr) c.740T>C (p.Ile247Thr) | |
11 | g.128839555A>T | CA383244343 | KCNJ1 | c.689T>A (p.Ile230Asn) c.746T>A (p.Ile249Asn) c.740T>A (p.Ile247Asn) | |
11 | g.128839556T>A | CA383244350 | KCNJ1 | c.688A>T (p.Ile230Phe) c.745A>T (p.Ile249Phe) c.739A>T (p.Ile247Phe) | |
11 | g.128839556T>C | CA383244348 | KCNJ1 | c.688A>G (p.Ile230Val) c.745A>G (p.Ile249Val) c.739A>G (p.Ile247Val) | gnomAD v4 |
11 | g.128839556T>G | CA383244346 | KCNJ1 | c.688A>C (p.Ile230Leu) c.745A>C (p.Ile249Leu) c.739A>C (p.Ile247Leu) | |
11 | g.128839557A>C | CA383244351 | KCNJ1 | c.687T>G (p.Asn229Lys) c.744T>G (p.Asn248Lys) c.738T>G (p.Asn246Lys) | |
11 | g.128839557A>G | CA477703152 | KCNJ1 | c.687T>C (p.Asn229=) c.744T>C (p.Asn248=) c.738T>C (p.Asn246=) | |
11 | g.128839557A>T | CA383244353 | KCNJ1 | c.687T>A (p.Asn229Lys) c.744T>A (p.Asn248Lys) c.738T>A (p.Asn246Lys) | |
11 | g.128839558T>A | CA383244356 | KCNJ1 | c.686A>T (p.Asn229Ile) c.743A>T (p.Asn248Ile) c.737A>T (p.Asn246Ile) | |
11 | g.128839558T>C | CA383244358 | KCNJ1 | c.686A>G (p.Asn229Ser) c.743A>G (p.Asn248Ser) c.737A>G (p.Asn246Ser) | |
11 | g.128839558T>G | CA383244360 | KCNJ1 | c.686A>C (p.Asn229Thr) c.743A>C (p.Asn248Thr) c.737A>C (p.Asn246Thr) | |
11 | g.128839559T>A | CA383244363 | KCNJ1 | c.685A>T (p.Asn229Tyr) c.742A>T (p.Asn248Tyr) c.736A>T (p.Asn246Tyr) | |
11 | g.128839559T>C | CA383244365 | KCNJ1 | c.685A>G (p.Asn229Asp) c.742A>G (p.Asn248Asp) c.736A>G (p.Asn246Asp) | gnomAD v4 |
11 | g.128839559T>G | CA383244368 | KCNJ1 | c.685A>C (p.Asn229His) c.742A>C (p.Asn248His) c.736A>C (p.Asn246His) | |
11 | g.128839560del | CA2616771383 | KCNJ1 | c.684del (p.Asn229IlefsTer5) c.741del (p.Asn248IlefsTer5) c.735del (p.Asn246IlefsTer5) | gnomAD v4 |
11 | g.128839560G>A | CA477703156 | KCNJ1 | c.684C>T (p.Ile228=) c.741C>T (p.Ile247=) c.735C>T (p.Ile245=) | |
11 | g.128839560G>C | CA383244371 | KCNJ1 | c.684C>G (p.Ile228Met) c.741C>G (p.Ile247Met) c.735C>G (p.Ile245Met) | |
11 | g.128839560G>T | CA477703157 | KCNJ1 | c.684C>A (p.Ile228=) c.741C>A (p.Ile247=) c.735C>A (p.Ile245=) | |
11 | g.128839561A= | CA2008286700 | KCNJ1 | c.683T= (p.Ile228=) c.740T= (p.Ile247=) c.734T= (p.Ile245=) | |
11 | g.128839561A>C | CA383244374 | KCNJ1 | c.683T>G (p.Ile228Ser) c.740T>G (p.Ile247Ser) c.734T>G (p.Ile245Ser) | |
11 | g.128839561A>G | CA6357474 | KCNJ1 | c.683T>C (p.Ile228Thr) c.740T>C (p.Ile247Thr) c.734T>C (p.Ile245Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839561A>T | CA383244378 | KCNJ1 | c.683T>A (p.Ile228Asn) c.740T>A (p.Ile247Asn) c.734T>A (p.Ile245Asn) | |
11 | g.128839562T>A | CA383244383 | KCNJ1 | c.682A>T (p.Ile228Phe) c.739A>T (p.Ile247Phe) c.733A>T (p.Ile245Phe) | |
11 | g.128839562T>C | CA230628303 | KCNJ1 | c.682A>G (p.Ile228Val) c.739A>G (p.Ile247Val) c.733A>G (p.Ile245Val) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839562T>G | CA383244382 | KCNJ1 | c.682A>C (p.Ile228Leu) c.739A>C (p.Ile247Leu) c.733A>C (p.Ile245Leu) | |
11 | g.128839562T= | CA2008286702 | KCNJ1 | c.682A= (p.Ile228=) c.739A= (p.Ile247=) c.733A= (p.Ile245=) | |
11 | g.128839563C>A | CA383244386 | KCNJ1 | c.681G>T (p.Gln227His) c.738G>T (p.Gln246His) c.732G>T (p.Gln244His) | |
11 | g.128839563C>G | CA383244387 | KCNJ1 | c.681G>C (p.Gln227His) c.738G>C (p.Gln246His) c.732G>C (p.Gln244His) | gnomAD v4 |
11 | g.128839563C>T | CA477703160 | KCNJ1 | c.681G>A (p.Gln227=) c.738G>A (p.Gln246=) c.732G>A (p.Gln244=) | |
11 | g.128839564T>A | CA383244389 | KCNJ1 | c.680A>T (p.Gln227Leu) c.737A>T (p.Gln246Leu) c.731A>T (p.Gln244Leu) | |
11 | g.128839564T>C | CA383244392 | KCNJ1 | c.680A>G (p.Gln227Arg) c.737A>G (p.Gln246Arg) c.731A>G (p.Gln244Arg) | |
11 | g.128839564T>G | CA383244394 | KCNJ1 | c.680A>C (p.Gln227Pro) c.737A>C (p.Gln246Pro) c.731A>C (p.Gln244Pro) | |
11 | g.128839565G>A | CA383244401 | KCNJ1 | c.679C>T (p.Gln227Ter) c.736C>T (p.Gln246Ter) c.730C>T (p.Gln244Ter) | gnomAD v4 |
11 | g.128839565G>C | CA383244397 | KCNJ1 | c.679C>G (p.Gln227Glu) c.736C>G (p.Gln246Glu) c.730C>G (p.Gln244Glu) | |
11 | g.128839565G>T | CA383244399 | KCNJ1 | c.679C>A (p.Gln227Lys) c.736C>A (p.Gln246Lys) c.730C>A (p.Gln244Lys) | |
11 | g.128839566G>A | CA477703164 | KCNJ1 | c.678C>T (p.Asp226=) c.735C>T (p.Asp245=) c.729C>T (p.Asp243=) | gnomAD v4 |
11 | g.128839566G>C | CA383244403 | KCNJ1 | c.678C>G (p.Asp226Glu) c.735C>G (p.Asp245Glu) c.729C>G (p.Asp243Glu) | |
11 | g.128839566G= | CA2008286703 | KCNJ1 | c.678C= (p.Asp226=) c.735C= (p.Asp245=) c.729C= (p.Asp243=) | |
11 | g.128839566G>T | CA6357475 | KCNJ1 | c.678C>A (p.Asp226Glu) c.735C>A (p.Asp245Glu) c.729C>A (p.Asp243Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839567T>A | CA383244409 | KCNJ1 | c.677A>T (p.Asp226Val) c.734A>T (p.Asp245Val) c.728A>T (p.Asp243Val) | |
11 | g.128839567T>C | CA383244411 | KCNJ1 | c.677A>G (p.Asp226Gly) c.734A>G (p.Asp245Gly) c.728A>G (p.Asp243Gly) | dbSNP gnomAD v4 |
11 | g.128839567T>G | CA383244413 | KCNJ1 | c.677A>C (p.Asp226Ala) c.734A>C (p.Asp245Ala) c.728A>C (p.Asp243Ala) | |
11 | g.128839567T= | CA2008286705 | KCNJ1 | c.677A= (p.Asp226=) c.734A= (p.Asp245=) c.728A= (p.Asp243=) | |
11 | g.128839568C>A | CA383244420 | KCNJ1 | c.676G>T (p.Asp226Tyr) c.733G>T (p.Asp245Tyr) c.727G>T (p.Asp243Tyr) | |
11 | g.128839568C>G | CA383244418 | KCNJ1 | c.676G>C (p.Asp226His) c.733G>C (p.Asp245His) c.727G>C (p.Asp243His) | |
11 | g.128839568C>T | CA383244416 | KCNJ1 | c.676G>A (p.Asp226Asn) c.733G>A (p.Asp245Asn) c.727G>A (p.Asp243Asn) | |
11 | g.128839569C>A | CA383244423 | KCNJ1 | c.675G>T (p.Leu225Phe) c.732G>T (p.Leu244Phe) c.726G>T (p.Leu242Phe) | |
11 | g.128839569C= | CA2008286708 | KCNJ1 | c.675G= (p.Leu225=) c.732G= (p.Leu244=) c.726G= (p.Leu242=) | |
11 | g.128839569C>G | CA383244427 | KCNJ1 | c.675G>C (p.Leu225Phe) c.732G>C (p.Leu244Phe) c.726G>C (p.Leu242Phe) | |
11 | g.128839569C>T | CA6357476 | KCNJ1 | c.675G>A (p.Leu225=) c.732G>A (p.Leu244=) c.726G>A (p.Leu242=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839570A>C | CA383244430 | KCNJ1 | c.674T>G (p.Leu225Trp) c.731T>G (p.Leu244Trp) c.725T>G (p.Leu242Trp) | |
11 | g.128839570A>G | CA383244432 | KCNJ1 | c.674T>C (p.Leu225Ser) c.731T>C (p.Leu244Ser) c.725T>C (p.Leu242Ser) | gnomAD v4 |
11 | g.128839570A>T | CA383244435 | KCNJ1 | c.674T>A (p.Leu225Ter) c.731T>A (p.Leu244Ter) c.725T>A (p.Leu242Ter) | |
11 | g.128839571A>C | CA383244437 | KCNJ1 | c.673T>G (p.Leu225Val) c.730T>G (p.Leu244Val) c.724T>G (p.Leu242Val) | |
11 | g.128839571A>G | CA477703173 | KCNJ1 | c.673T>C (p.Leu225=) c.730T>C (p.Leu244=) c.724T>C (p.Leu242=) | |
11 | g.128839571A>T | CA383244439 | KCNJ1 | c.673T>A (p.Leu225Met) c.730T>A (p.Leu244Met) c.724T>A (p.Leu242Met) | |
11 | g.128839572A>C | CA383244442 | KCNJ1 | c.672T>G (p.Ile224Met) c.729T>G (p.Ile243Met) c.723T>G (p.Ile241Met) | |
11 | g.128839572A>G | CA477703174 | KCNJ1 | c.672T>C (p.Ile224=) c.729T>C (p.Ile243=) c.723T>C (p.Ile241=) | |
11 | g.128839572A>T | CA477703175 | KCNJ1 | c.672T>A (p.Ile224=) c.729T>A (p.Ile243=) c.723T>A (p.Ile241=) | |
11 | g.128839573A>C | CA383244445 | KCNJ1 | c.671T>G (p.Ile224Ser) c.728T>G (p.Ile243Ser) c.722T>G (p.Ile241Ser) | |
11 | g.128839573A>G | CA383244447 | KCNJ1 | c.671T>C (p.Ile224Thr) c.728T>C (p.Ile243Thr) c.722T>C (p.Ile241Thr) | |
11 | g.128839573A>T | CA383244449 | KCNJ1 | c.671T>A (p.Ile224Asn) c.728T>A (p.Ile243Asn) c.722T>A (p.Ile241Asn) | |
11 | g.128839574T>A | CA383244452 | KCNJ1 | c.670A>T (p.Ile224Phe) c.727A>T (p.Ile243Phe) c.721A>T (p.Ile241Phe) | |
11 | g.128839574T>C | CA383244454 | KCNJ1 | c.670A>G (p.Ile224Val) c.727A>G (p.Ile243Val) c.721A>G (p.Ile241Val) | |
11 | g.128839574T>G | CA383244456 | KCNJ1 | c.670A>C (p.Ile224Leu) c.727A>C (p.Ile243Leu) c.721A>C (p.Ile241Leu) | |
11 | g.128839575A>C | CA383244458 | KCNJ1 | c.669T>G (p.Ile223Met) c.726T>G (p.Ile242Met) c.720T>G (p.Ile240Met) | gnomAD v4 |
11 | g.128839575A>G | CA477703181 | KCNJ1 | c.669T>C (p.Ile223=) c.726T>C (p.Ile242=) c.720T>C (p.Ile240=) | |
11 | g.128839575A>T | CA477703180 | KCNJ1 | c.669T>A (p.Ile223=) c.726T>A (p.Ile242=) c.720T>A (p.Ile240=) | |
11 | g.128839576A= | CA2008286710 | KCNJ1 | c.668T= (p.Ile223=) c.725T= (p.Ile242=) c.719T= (p.Ile240=) | |
11 | g.128839576A>C | CA383244461 | KCNJ1 | c.668T>G (p.Ile223Ser) c.725T>G (p.Ile242Ser) c.719T>G (p.Ile240Ser) | |
11 | g.128839576A>G | CA383244464 | KCNJ1 | c.668T>C (p.Ile223Thr) c.725T>C (p.Ile242Thr) c.719T>C (p.Ile240Thr) | dbSNP gnomAD v4 |
11 | g.128839576A>T | CA383244466 | KCNJ1 | c.668T>A (p.Ile223Asn) c.725T>A (p.Ile242Asn) c.719T>A (p.Ile240Asn) | |
11 | g.128839577T>A | CA383244470 | KCNJ1 | c.667A>T (p.Ile223Phe) c.724A>T (p.Ile242Phe) c.718A>T (p.Ile240Phe) | |
11 | g.128839577T>C | CA6357477 | KCNJ1 | c.667A>G (p.Ile223Val) c.724A>G (p.Ile242Val) c.718A>G (p.Ile240Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839577T>G | CA383244474 | KCNJ1 | c.667A>C (p.Ile223Leu) c.724A>C (p.Ile242Leu) c.718A>C (p.Ile240Leu) | |
11 | g.128839577T= | CA2008286715 | KCNJ1 | c.667A= (p.Ile223=) c.724A= (p.Ile242=) c.718A= (p.Ile240=) | |
11 | g.128839578G>A | CA477703184 | KCNJ1 | c.666C>T (p.Thr222=) c.723C>T (p.Thr241=) c.717C>T (p.Thr239=) | |
11 | g.128839578G>C | CA477703185 | KCNJ1 | c.666C>G (p.Thr222=) c.723C>G (p.Thr241=) c.717C>G (p.Thr239=) | |
11 | g.128839578G>T | CA477703186 | KCNJ1 | c.666C>A (p.Thr222=) c.723C>A (p.Thr241=) c.717C>A (p.Thr239=) | |
11 | g.128839579G>A | CA383244477 | KCNJ1 | c.665C>T (p.Thr222Ile) c.722C>T (p.Thr241Ile) c.716C>T (p.Thr239Ile) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839579G>C | CA383244479 | KCNJ1 | c.665C>G (p.Thr222Ser) c.722C>G (p.Thr241Ser) c.716C>G (p.Thr239Ser) | |
11 | g.128839579G= | CA2008286717 | KCNJ1 | c.665C= (p.Thr222=) c.722C= (p.Thr241=) c.716C= (p.Thr239=) | |
11 | g.128839579G>T | CA383244482 | KCNJ1 | c.665C>A (p.Thr222Asn) c.722C>A (p.Thr241Asn) c.716C>A (p.Thr239Asn) | gnomAD v4 |
11 | g.128839580T>A | CA383244485 | KCNJ1 | c.664A>T (p.Thr222Ser) c.721A>T (p.Thr241Ser) c.715A>T (p.Thr239Ser) | |
11 | g.128839580T>C | CA383244487 | KCNJ1 | c.664A>G (p.Thr222Ala) c.721A>G (p.Thr241Ala) c.715A>G (p.Thr239Ala) | |
11 | g.128839580T>G | CA383244489 | KCNJ1 | c.664A>C (p.Thr222Pro) c.721A>C (p.Thr241Pro) c.715A>C (p.Thr239Pro) | |
11 | g.128839581C>A | CA383244492 | KCNJ1 | c.663G>T (p.Glu221Asp) c.720G>T (p.Glu240Asp) c.714G>T (p.Glu238Asp) | |
11 | g.128839581C= | CA2008286720 | KCNJ1 | c.663G= (p.Glu221=) c.720G= (p.Glu240=) c.714G= (p.Glu238=) | |
11 | g.128839581C>G | CA6357478 | KCNJ1 | c.663G>C (p.Glu221Asp) c.720G>C (p.Glu240Asp) c.714G>C (p.Glu238Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839581C>T | CA477703189 | KCNJ1 | c.663G>A (p.Glu221=) c.720G>A (p.Glu240=) c.714G>A (p.Glu238=) | |
11 | g.128839582T>A | CA383244496 | KCNJ1 | c.662A>T (p.Glu221Val) c.719A>T (p.Glu240Val) c.713A>T (p.Glu238Val) | |
11 | g.128839582T>C | CA383244500 | KCNJ1 | c.662A>G (p.Glu221Gly) c.719A>G (p.Glu240Gly) c.713A>G (p.Glu238Gly) | |
11 | g.128839582T>G | CA383244498 | KCNJ1 | c.662A>C (p.Glu221Ala) c.719A>C (p.Glu240Ala) c.713A>C (p.Glu238Ala) | |
11 | g.128839583C>A | CA383244503 | KCNJ1 | c.661G>T (p.Glu221Ter) c.718G>T (p.Glu240Ter) c.712G>T (p.Glu238Ter) | |
11 | g.128839583C= | CA2008286723 | KCNJ1 | c.661G= (p.Glu221=) c.718G= (p.Glu240=) c.712G= (p.Glu238=) | |
11 | g.128839583C>G | CA230628313 | KCNJ1 | c.661G>C (p.Glu221Gln) c.718G>C (p.Glu240Gln) c.712G>C (p.Glu238Gln) | dbSNP gnomAD v4 |
11 | g.128839583C>T | CA383244506 | KCNJ1 | c.661G>A (p.Glu221Lys) c.718G>A (p.Glu240Lys) c.712G>A (p.Glu238Lys) | gnomAD v4 COSMIC |
11 | g.128839584T>A | CA477703192 | KCNJ1 | c.660A>T (p.Gly220=) c.717A>T (p.Gly239=) c.711A>T (p.Gly237=) | |
11 | g.128839584T>C | CA477703193 | KCNJ1 | c.660A>G (p.Gly220=) c.717A>G (p.Gly239=) c.711A>G (p.Gly237=) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.128839584T>G | CA477703195 | KCNJ1 | c.660A>C (p.Gly220=) c.717A>C (p.Gly239=) c.711A>C (p.Gly237=) | |
11 | g.128839584T= | CA2008286728 | KCNJ1 | c.660A= (p.Gly220=) c.717A= (p.Gly239=) c.711A= (p.Gly237=) | |
11 | g.128839584_128839585delinsTC | CA2008286726 | KCNJ1 | c.659_660delinsGA (p.Gly220=) c.716_717delinsGA (p.Gly239=) c.710_711delinsGA (p.Gly237=) | |
11 | g.128839585C>A | CA383244510 | KCNJ1 | c.659G>T (p.Gly220Val) c.716G>T (p.Gly239Val) c.710G>T (p.Gly237Val) | |
11 | g.128839585C>G | CA383244512 | KCNJ1 | c.659G>C (p.Gly220Ala) c.716G>C (p.Gly239Ala) c.710G>C (p.Gly237Ala) | |
11 | g.128839585C>T | CA383244515 | KCNJ1 | c.659G>A (p.Gly220Glu) c.716G>A (p.Gly239Glu) c.710G>A (p.Gly237Glu) | COSMIC |
11 | g.128839586del | CA6357479 | KCNJ1 | c.659del (p.Gly220GlufsTer14) c.716del (p.Gly239GlufsTer14) c.710del (p.Gly237GlufsTer14) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839586C>A | CA383244518 | KCNJ1 | c.658G>T (p.Gly220Ter) c.715G>T (p.Gly239Ter) c.709G>T (p.Gly237Ter) | |
11 | g.128839586C>G | CA383244520 | KCNJ1 | c.658G>C (p.Gly220Arg) c.715G>C (p.Gly239Arg) c.709G>C (p.Gly237Arg) | |
11 | g.128839586C>T | CA383244522 | KCNJ1 | c.658G>A (p.Gly220Arg) c.715G>A (p.Gly239Arg) c.709G>A (p.Gly237Arg) | |
11 | g.128839587T>A | CA383244525 | KCNJ1 | c.657A>T (p.Glu219Asp) c.714A>T (p.Glu238Asp) c.708A>T (p.Glu236Asp) | |
11 | g.128839587T>C | CA477703199 | KCNJ1 | c.657A>G (p.Glu219=) c.714A>G (p.Glu238=) c.708A>G (p.Glu236=) | |
11 | g.128839587T>G | CA383244527 | KCNJ1 | c.657A>C (p.Glu219Asp) c.714A>C (p.Glu238Asp) c.708A>C (p.Glu236Asp) | |
11 | g.128839588T>A | CA383244535 | KCNJ1 | c.656A>T (p.Glu219Val) c.713A>T (p.Glu238Val) c.707A>T (p.Glu236Val) | |
11 | g.128839588T>C | CA383244533 | KCNJ1 | c.656A>G (p.Glu219Gly) c.713A>G (p.Glu238Gly) c.707A>G (p.Glu236Gly) | |
11 | g.128839588T>G | CA383244530 | KCNJ1 | c.656A>C (p.Glu219Ala) c.713A>C (p.Glu238Ala) c.707A>C (p.Glu236Ala) | |
11 | g.128839589C>A | CA383244537 | KCNJ1 | c.655G>T (p.Glu219Ter) c.712G>T (p.Glu238Ter) c.706G>T (p.Glu236Ter) | |
11 | g.128839589C>G | CA383244539 | KCNJ1 | c.655G>C (p.Glu219Gln) c.712G>C (p.Glu238Gln) c.706G>C (p.Glu236Gln) | |
11 | g.128839589C>T | CA383244541 | KCNJ1 | c.655G>A (p.Glu219Lys) c.712G>A (p.Glu238Lys) c.706G>A (p.Glu236Lys) | |
11 | g.128839590A>C | CA477703203 | KCNJ1 | c.654T>G (p.Pro218=) c.711T>G (p.Pro237=) c.705T>G (p.Pro235=) | |
11 | g.128839590A>G | CA477703204 | KCNJ1 | c.654T>C (p.Pro218=) c.711T>C (p.Pro237=) c.705T>C (p.Pro235=) | gnomAD v4 |
11 | g.128839590A>T | CA477703205 | KCNJ1 | c.654T>A (p.Pro218=) c.711T>A (p.Pro237=) c.705T>A (p.Pro235=) | |
11 | g.128839591G>A | CA383244544 | KCNJ1 | c.653C>T (p.Pro218Leu) c.710C>T (p.Pro237Leu) c.704C>T (p.Pro235Leu) | |
11 | g.128839591G>C | CA383244545 | KCNJ1 | c.653C>G (p.Pro218Arg) c.710C>G (p.Pro237Arg) c.704C>G (p.Pro235Arg) | |
11 | g.128839591G>T | CA383244547 | KCNJ1 | c.653C>A (p.Pro218His) c.710C>A (p.Pro237His) c.704C>A (p.Pro235His) | |
11 | g.128839592G>A | CA383244550 | KCNJ1 | c.652C>T (p.Pro218Ser) c.709C>T (p.Pro237Ser) c.703C>T (p.Pro235Ser) | |
11 | g.128839592G>C | CA383244552 | KCNJ1 | c.652C>G (p.Pro218Ala) c.709C>G (p.Pro237Ala) c.703C>G (p.Pro235Ala) | |
11 | g.128839592G>T | CA383244554 | KCNJ1 | c.652C>A (p.Pro218Thr) c.709C>A (p.Pro237Thr) c.703C>A (p.Pro235Thr) | gnomAD v4 |
11 | g.128839593A>C | CA477703212 | KCNJ1 | c.651T>G (p.Thr217=) c.708T>G (p.Thr236=) c.702T>G (p.Thr234=) | |
11 | g.128839593A>G | CA477703213 | KCNJ1 | c.651T>C (p.Thr217=) c.708T>C (p.Thr236=) c.702T>C (p.Thr234=) | gnomAD v4 |
11 | g.128839593A>T | CA477703214 | KCNJ1 | c.651T>A (p.Thr217=) c.708T>A (p.Thr236=) c.702T>A (p.Thr234=) | |
11 | g.128839594G>A | CA383244556 | KCNJ1 | c.650C>T (p.Thr217Ile) c.707C>T (p.Thr236Ile) c.701C>T (p.Thr234Ile) | |
11 | g.128839594G>C | CA383244561 | KCNJ1 | c.650C>G (p.Thr217Ser) c.707C>G (p.Thr236Ser) c.701C>G (p.Thr234Ser) | |
11 | g.128839594G>T | CA383244562 | KCNJ1 | c.650C>A (p.Thr217Asn) c.707C>A (p.Thr236Asn) c.701C>A (p.Thr234Asn) | |
11 | g.128839595T>A | CA383244568 | KCNJ1 | c.649A>T (p.Thr217Ser) c.706A>T (p.Thr236Ser) c.700A>T (p.Thr234Ser) | dbSNP |
11 | g.128839595T>C | CA383244564 | KCNJ1 | c.649A>G (p.Thr217Ala) c.706A>G (p.Thr236Ala) c.700A>G (p.Thr234Ala) | dbSNP gnomAD v2 |
11 | g.128839595T>G | CA383244566 | KCNJ1 | c.649A>C (p.Thr217Pro) c.706A>C (p.Thr236Pro) c.700A>C (p.Thr234Pro) | |
11 | g.128839595T= | CA2008286733 | KCNJ1 | c.649A= (p.Thr217=) c.706A= (p.Thr236=) c.700A= (p.Thr234=) | |
11 | g.128839596G>A | CA477703218 | KCNJ1 | c.648C>T (p.Val216=) c.705C>T (p.Val235=) c.699C>T (p.Val233=) | gnomAD v4 |
11 | g.128839596G>C | CA477703217 | KCNJ1 | c.648C>G (p.Val216=) c.705C>G (p.Val235=) c.699C>G (p.Val233=) | |
11 | g.128839596G>T | CA477703216 | KCNJ1 | c.648C>A (p.Val216=) c.705C>A (p.Val235=) c.699C>A (p.Val233=) | |
11 | g.128839597A= | CA2008286735 | KCNJ1 | c.647T= (p.Val216=) c.704T= (p.Val235=) c.698T= (p.Val233=) | |
11 | g.128839597A>C | CA383244570 | KCNJ1 | c.647T>G (p.Val216Gly) c.704T>G (p.Val235Gly) c.698T>G (p.Val233Gly) | |
11 | g.128839597A>G | CA6357480 | KCNJ1 | c.647T>C (p.Val216Ala) c.704T>C (p.Val235Ala) c.698T>C (p.Val233Ala) | dbSNP ExAC gnomAD v2 |
11 | g.128839597A>T | CA383244573 | KCNJ1 | c.647T>A (p.Val216Asp) c.704T>A (p.Val235Asp) c.698T>A (p.Val233Asp) | |
11 | g.128839598C>A | CA383244578 | KCNJ1 | c.646G>T (p.Val216Phe) c.703G>T (p.Val235Phe) c.697G>T (p.Val233Phe) | |
11 | g.128839598C>G | CA383244582 | KCNJ1 | c.646G>C (p.Val216Leu) c.703G>C (p.Val235Leu) c.697G>C (p.Val233Leu) | |
11 | g.128839598C>T | CA383244580 | KCNJ1 | c.646G>A (p.Val216Ile) c.703G>A (p.Val235Ile) c.697G>A (p.Val233Ile) | |
11 | g.128839598_128839600delinsCTG | CA2008286740 | KCNJ1 | c.644_646delinsCAG (p.Thr215=) c.701_703delinsCAG (p.Thr234=) c.695_697delinsCAG (p.Thr232=) | |
11 | g.128839599T>A | CA477703221 | KCNJ1 | c.645A>T (p.Thr215=) c.702A>T (p.Thr234=) c.696A>T (p.Thr232=) | |
11 | g.128839599T>C | CA477703222 | KCNJ1 | c.645A>G (p.Thr215=) c.702A>G (p.Thr234=) c.696A>G (p.Thr232=) | |
11 | g.128839599T>G | CA477703223 | KCNJ1 | c.645A>C (p.Thr215=) c.702A>C (p.Thr234=) c.696A>C (p.Thr232=) | |
11 | g.128839601_128839602del | CA477703224 | KCNJ1 | c.644_645del (p.Thr215SerfsTer4) c.701_702del (p.Thr234SerfsTer4) c.695_696del (p.Thr232SerfsTer4) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839600G>A | CA230628331 | KCNJ1 | c.644C>T (p.Thr215Ile) c.701C>T (p.Thr234Ile) c.695C>T (p.Thr232Ile) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839600G>C | CA383244584 | KCNJ1 | c.644C>G (p.Thr215Arg) c.701C>G (p.Thr234Arg) c.695C>G (p.Thr232Arg) | |
11 | g.128839600G= | CA2008250517 | KCNJ1 | c.644C= (p.Thr215=) c.701C= (p.Thr234=) c.695C= (p.Thr232=) | |
11 | g.128839600G>T | CA383244585 | KCNJ1 | c.644C>A (p.Thr215Lys) c.701C>A (p.Thr234Lys) c.695C>A (p.Thr232Lys) | |
11 | g.128839601T>A | CA383244586 | KCNJ1 | c.643A>T (p.Thr215Ser) c.700A>T (p.Thr234Ser) c.694A>T (p.Thr232Ser) | |
11 | g.128839601T>C | CA383244587 | KCNJ1 | c.643A>G (p.Thr215Ala) c.700A>G (p.Thr234Ala) c.694A>G (p.Thr232Ala) | gnomAD v4 COSMIC |
11 | g.128839601T>G | CA383244588 | KCNJ1 | c.643A>C (p.Thr215Pro) c.700A>C (p.Thr234Pro) c.694A>C (p.Thr232Pro) | |
11 | g.128839602G>A | CA6357481 | KCNJ1 | c.642C>T (p.Thr214=) c.699C>T (p.Thr233=) c.693C>T (p.Thr231=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839602G>C | CA477703228 | KCNJ1 | c.642C>G (p.Thr214=) c.699C>G (p.Thr233=) c.693C>G (p.Thr231=) | |
11 | g.128839602G= | CA2008250543 | KCNJ1 | c.642C= (p.Thr214=) c.699C= (p.Thr233=) c.693C= (p.Thr231=) | |
11 | g.128839602G>T | CA477703229 | KCNJ1 | c.642C>A (p.Thr214=) c.699C>A (p.Thr233=) c.693C>A (p.Thr231=) | gnomAD v4 |
11 | g.128839603G>A | CA383244589 | KCNJ1 | c.641C>T (p.Thr214Ile) c.698C>T (p.Thr233Ile) c.692C>T (p.Thr231Ile) | dbSNP |
11 | g.128839603G>C | CA383244590 | KCNJ1 | c.641C>G (p.Thr214Ser) c.698C>G (p.Thr233Ser) c.692C>G (p.Thr231Ser) | |
11 | g.128839603G= | CA2008250552 | KCNJ1 | c.641C= (p.Thr214=) c.698C= (p.Thr233=) c.692C= (p.Thr231=) | |
11 | g.128839603G>T | CA383244591 | KCNJ1 | c.641C>A (p.Thr214Asn) c.698C>A (p.Thr233Asn) c.692C>A (p.Thr231Asn) | |
11 | g.128839604T>A | CA383244592 | KCNJ1 | c.640A>T (p.Thr214Ser) c.697A>T (p.Thr233Ser) c.691A>T (p.Thr231Ser) | gnomAD v4 |
11 | g.128839604T>C | CA383244593 | KCNJ1 | c.640A>G (p.Thr214Ala) c.697A>G (p.Thr233Ala) c.691A>G (p.Thr231Ala) | dbSNP |
11 | g.128839604T>G | CA383244594 | KCNJ1 | c.640A>C (p.Thr214Pro) c.697A>C (p.Thr233Pro) c.691A>C (p.Thr231Pro) | dbSNP gnomAD v4 |
11 | g.128839604T= | CA2008250559 | KCNJ1 | c.640A= (p.Thr214=) c.697A= (p.Thr233=) c.691A= (p.Thr231=) | |
11 | g.128839605C>A | CA383244595 | KCNJ1 | c.639G>T (p.Lys213Asn) c.696G>T (p.Lys232Asn) c.690G>T (p.Lys230Asn) | |
11 | g.128839605C>G | CA383244596 | KCNJ1 | c.639G>C (p.Lys213Asn) c.696G>C (p.Lys232Asn) c.690G>C (p.Lys230Asn) | |
11 | g.128839605C>T | CA477703230 | KCNJ1 | c.639G>A (p.Lys213=) c.696G>A (p.Lys232=) c.690G>A (p.Lys230=) | |
11 | g.128839606T>A | CA383244597 | KCNJ1 | c.638A>T (p.Lys213Met) c.695A>T (p.Lys232Met) c.689A>T (p.Lys230Met) | |
11 | g.128839606T>C | CA383244598 | KCNJ1 | c.638A>G (p.Lys213Arg) c.695A>G (p.Lys232Arg) c.689A>G (p.Lys230Arg) | |
11 | g.128839606T>G | CA383244599 | KCNJ1 | c.638A>C (p.Lys213Thr) c.695A>C (p.Lys232Thr) c.689A>C (p.Lys230Thr) | |
11 | g.128839607T>A | CA383244600 | KCNJ1 | c.637A>T (p.Lys213Ter) c.694A>T (p.Lys232Ter) c.688A>T (p.Lys230Ter) | |
11 | g.128839607T>C | CA383244601 | KCNJ1 | c.637A>G (p.Lys213Glu) c.694A>G (p.Lys232Glu) c.688A>G (p.Lys230Glu) | |
11 | g.128839607T>G | CA383244602 | KCNJ1 | c.637A>C (p.Lys213Gln) c.694A>C (p.Lys232Gln) c.688A>C (p.Lys230Gln) | |
11 | g.128839608C>A | CA477703231 | KCNJ1 | c.636G>T (p.Leu212=) c.693G>T (p.Leu231=) c.687G>T (p.Leu229=) | |
11 | g.128839608C>G | CA477703233 | KCNJ1 | c.636G>C (p.Leu212=) c.693G>C (p.Leu231=) c.687G>C (p.Leu229=) | |
11 | g.128839608C>T | CA477703235 | KCNJ1 | c.636G>A (p.Leu212=) c.693G>A (p.Leu231=) c.687G>A (p.Leu229=) | |
11 | g.128839609A= | CA2008250570 | KCNJ1 | c.635T= (p.Leu212=) c.692T= (p.Leu231=) c.686T= (p.Leu229=) | |
11 | g.128839609A>C | CA383244603 | KCNJ1 | c.635T>G (p.Leu212Arg) c.692T>G (p.Leu231Arg) c.686T>G (p.Leu229Arg) | |
11 | g.128839609A>G | CA383244604 | KCNJ1 | c.635T>C (p.Leu212Pro) c.692T>C (p.Leu231Pro) c.686T>C (p.Leu229Pro) | |
11 | g.128839609A>T | CA383244605 | KCNJ1 | c.635T>A (p.Leu212Gln) c.692T>A (p.Leu231Gln) c.686T>A (p.Leu229Gln) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839610G>A | CA477703236 | KCNJ1 | c.634C>T (p.Leu212=) c.691C>T (p.Leu231=) c.685C>T (p.Leu229=) | |
11 | g.128839610G>C | CA383244606 | KCNJ1 | c.634C>G (p.Leu212Val) c.691C>G (p.Leu231Val) c.685C>G (p.Leu229Val) | |
11 | g.128839610G>T | CA383244607 | KCNJ1 | c.634C>A (p.Leu212Met) c.691C>A (p.Leu231Met) c.685C>A (p.Leu229Met) | |
11 | g.128839611A>C | CA477703237 | KCNJ1 | c.633T>G (p.Leu211=) c.690T>G (p.Leu230=) c.684T>G (p.Leu228=) | |
11 | g.128839611A>G | CA477703238 | KCNJ1 | c.633T>C (p.Leu211=) c.690T>C (p.Leu230=) c.684T>C (p.Leu228=) | |
11 | g.128839611A>T | CA477703239 | KCNJ1 | c.633T>A (p.Leu211=) c.690T>A (p.Leu230=) c.684T>A (p.Leu228=) | |
11 | g.128839612A= | CA2008250575 | KCNJ1 | c.632T= (p.Leu211=) c.689T= (p.Leu230=) c.683T= (p.Leu228=) | |
11 | g.128839612A>C | CA383244610 | KCNJ1 | c.632T>G (p.Leu211Arg) c.689T>G (p.Leu230Arg) c.683T>G (p.Leu228Arg) | |
11 | g.128839612A>G | CA383244609 | KCNJ1 | c.632T>C (p.Leu211Pro) c.689T>C (p.Leu230Pro) c.683T>C (p.Leu228Pro) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839612A>T | CA383244608 | KCNJ1 | c.632T>A (p.Leu211His) c.689T>A (p.Leu230His) c.683T>A (p.Leu228His) | |
11 | g.128839613G>A | CA6357482 | KCNJ1 | c.631C>T (p.Leu211Phe) c.688C>T (p.Leu230Phe) c.682C>T (p.Leu228Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839613G>C | CA383244611 | KCNJ1 | c.631C>G (p.Leu211Val) c.688C>G (p.Leu230Val) c.682C>G (p.Leu228Val) | |
11 | g.128839613G= | CA2008250580 | KCNJ1 | c.631C= (p.Leu211=) c.688C= (p.Leu230=) c.682C= (p.Leu228=) | |
11 | g.128839613G>T | CA383244612 | KCNJ1 | c.631C>A (p.Leu211Ile) c.688C>A (p.Leu230Ile) c.682C>A (p.Leu228Ile) | |
11 | g.128839614C>A | CA383244613 | KCNJ1 | c.630G>T (p.Lys210Asn) c.687G>T (p.Lys229Asn) c.681G>T (p.Lys227Asn) | |
11 | g.128839614C>G | CA383244614 | KCNJ1 | c.630G>C (p.Lys210Asn) c.687G>C (p.Lys229Asn) c.681G>C (p.Lys227Asn) | |
11 | g.128839614C>T | CA477703240 | KCNJ1 | c.630G>A (p.Lys210=) c.687G>A (p.Lys229=) c.681G>A (p.Lys227=) | gnomAD v4 |
11 | g.128839615T>A | CA383244615 | KCNJ1 | c.629A>T (p.Lys210Met) c.686A>T (p.Lys229Met) c.680A>T (p.Lys227Met) | |
11 | g.128839615T>C | CA383244616 | KCNJ1 | c.629A>G (p.Lys210Arg) c.686A>G (p.Lys229Arg) c.680A>G (p.Lys227Arg) | |
11 | g.128839615T>G | CA383244617 | KCNJ1 | c.629A>C (p.Lys210Thr) c.686A>C (p.Lys229Thr) c.680A>C (p.Lys227Thr) | |
11 | g.128839616T>A | CA383244618 | KCNJ1 | c.628A>T (p.Lys210Ter) c.685A>T (p.Lys229Ter) c.679A>T (p.Lys227Ter) | |
11 | g.128839616T>C | CA383244619 | KCNJ1 | c.628A>G (p.Lys210Glu) c.685A>G (p.Lys229Glu) c.679A>G (p.Lys227Glu) | |
11 | g.128839616T>G | CA383244620 | KCNJ1 | c.628A>C (p.Lys210Gln) c.685A>C (p.Lys229Gln) c.679A>C (p.Lys227Gln) | COSMIC |
11 | g.128839617T>A | CA477703244 | KCNJ1 | c.627A>T (p.Gly209=) c.684A>T (p.Gly228=) c.678A>T (p.Gly226=) | |
11 | g.128839617T>C | CA477703243 | KCNJ1 | c.627A>G (p.Gly209=) c.684A>G (p.Gly228=) c.678A>G (p.Gly226=) | |
11 | g.128839617T>G | CA477703242 | KCNJ1 | c.627A>C (p.Gly209=) c.684A>C (p.Gly228=) c.678A>C (p.Gly226=) | |
11 | g.128839618C>A | CA6357483 | KCNJ1 | c.626G>T (p.Gly209Val) c.683G>T (p.Gly228Val) c.677G>T (p.Gly226Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.128839618C= | CA2008250586 | KCNJ1 | c.626G= (p.Gly209=) c.683G= (p.Gly228=) c.677G= (p.Gly226=) | |
11 | g.128839618C>G | CA383244621 | KCNJ1 | c.626G>C (p.Gly209Ala) c.683G>C (p.Gly228Ala) c.677G>C (p.Gly226Ala) | |
11 | g.128839618C>T | CA230628371 | KCNJ1 | c.626G>A (p.Gly209Glu) c.683G>A (p.Gly228Glu) c.677G>A (p.Gly226Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
11 | g.128839619C>A | CA383244623 | KCNJ1 | c.625G>T (p.Gly209Ter) c.682G>T (p.Gly228Ter) c.676G>T (p.Gly226Ter) | |
11 | g.128839619C= | CA2008250592 | KCNJ1 | c.625G= (p.Gly209=) c.682G= (p.Gly228=) c.676G= (p.Gly226=) | |
11 | g.128839619C>G | CA383244622 | KCNJ1 | c.625G>C (p.Gly209Arg) c.682G>C (p.Gly228Arg) c.676G>C (p.Gly226Arg) | |
11 | g.128839619C>T | CA230628392 | KCNJ1 | c.625G>A (p.Gly209Arg) c.682G>A (p.Gly228Arg) c.676G>A (p.Gly226Arg) | dbSNP gnomAD v3 gnomAD v4 |
11 | g.128839620A= | CA2008250595 | KCNJ1 | c.624T= (p.Tyr208=) c.681T= (p.Tyr227=) c.675T= (p.Tyr225=) | |
11 | g.128839620A>C | CA383244624 | KCNJ1 | c.624T>G (p.Tyr208Ter) c.681T>G (p.Tyr227Ter) c.675T>G (p.Tyr225Ter) | |
11 | g.128839620A>G | CA6357484 | KCNJ1 | c.624T>C (p.Tyr208=) c.681T>C (p.Tyr227=) c.675T>C (p.Tyr225=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.128839620A>T | CA383244625 | KCNJ1 | c.624T>A (p.Tyr208Ter) c.681T>A (p.Tyr227Ter) c.675T>A (p.Tyr225Ter) | |
11 | g.128839621T>A | CA383244626 | KCNJ1 | c.623A>T (p.Tyr208Phe) c.680A>T (p.Tyr227Phe) c.674A>T (p.Tyr225Phe) | |
11 | g.128839621T>C | CA383244627 | KCNJ1 | c.623A>G (p.Tyr208Cys) c.680A>G (p.Tyr227Cys) c.674A>G (p.Tyr225Cys) | ClinVar dbSNP |
11 | g.128839621T>G | CA383244628 | KCNJ1 | c.623A>C (p.Tyr208Ser) c.680A>C (p.Tyr227Ser) c.674A>C (p.Tyr225Ser) | |
11 | g.128839621T= | CA2008250602 | KCNJ1 | c.623A= (p.Tyr208=) c.680A= (p.Tyr227=) c.674A= (p.Tyr225=) | |
11 | g.128839622A>C | CA383244629 | KCNJ1 | c.622T>G (p.Tyr208Asp) c.679T>G (p.Tyr227Asp) c.673T>G (p.Tyr225Asp) | |
11 | g.128839622A>G | CA383244630 | KCNJ1 | c.622T>C (p.Tyr208His) c.679T>C (p.Tyr227His) c.673T>C (p.Tyr225His) | |
11 | g.128839622A>T | CA383244631 | KCNJ1 | c.622T>A (p.Tyr208Asn) c.679T>A (p.Tyr227Asn) c.673T>A (p.Tyr225Asn) | |
11 | g.128839623A= | CA2008250611 | KCNJ1 | c.621T= (p.Ile207=) c.678T= (p.Ile226=) c.672T= (p.Ile224=) | |
11 | g.128839623A>C | CA6357485 | KCNJ1 | c.621T>G (p.Ile207Met) c.678T>G (p.Ile226Met) c.672T>G (p.Ile224Met) | dbSNP ExAC gnomAD v2 |
11 | g.128839623A>G | CA477703246 | KCNJ1 | c.621T>C (p.Ile207=) c.678T>C (p.Ile226=) c.672T>C (p.Ile224=) | |
11 | g.128839623A>T | CA477703245 | KCNJ1 | c.621T>A (p.Ile207=) c.678T>A (p.Ile226=) c.672T>A (p.Ile224=) | |
11 | g.128839624A>C | CA383244632 | KCNJ1 | c.620T>G (p.Ile207Ser) c.677T>G (p.Ile226Ser) c.671T>G (p.Ile224Ser) | |
11 | g.128839624A>G | CA383244633 | KCNJ1 | c.620T>C (p.Ile207Thr) c.677T>C (p.Ile226Thr) c.671T>C (p.Ile224Thr) | |
11 | g.128839624A>T | CA383244634 | KCNJ1 | c.620T>A (p.Ile207Asn) c.677T>A (p.Ile226Asn) c.671T>A (p.Ile224Asn) |