| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |