| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387493A>C | CA379772326 | KCNJ11 | c.338T>G (p.Leu113Arg) c.599T>G (p.Leu200Arg) n.757T>G | |
| 11 | g.17387493A>G | CA379772325 | KCNJ11 | c.338T>C (p.Leu113Pro) c.599T>C (p.Leu200Pro) n.757T>C | |
| 11 | g.17387493A>T | CA379772320 | KCNJ11 | c.338T>A (p.Leu113Gln) c.599T>A (p.Leu200Gln) n.757T>A | |
| 11 | g.17387494G>A | CA473515702 | KCNJ11 | c.337C>T (p.Leu113=) c.598C>T (p.Leu200=) n.756C>T | |
| 11 | g.17387494G>C | CA379772327 | KCNJ11 | c.337C>G (p.Leu113Val) c.598C>G (p.Leu200Val) n.756C>G | |
| 11 | g.17387494G>T | CA379772328 | KCNJ11 | c.337C>A (p.Leu113Ile) c.598C>A (p.Leu200Ile) n.756C>A | |
| 11 | g.17387495C>A | CA379772330 | KCNJ11 | c.336G>T (p.Met112Ile) c.597G>T (p.Met199Ile) n.755G>T | |
| 11 | g.17387495C>G | CA379772331 | KCNJ11 | c.336G>C (p.Met112Ile) c.597G>C (p.Met199Ile) n.755G>C | |
| 11 | g.17387495C>T | CA379772337 | KCNJ11 | c.336G>A (p.Met112Ile) c.597G>A (p.Met199Ile) n.755G>A | |
| 11 | g.17387496A= | CA1955119281 | KCNJ11 | c.335T= (p.Met112=) c.596T= (p.Met199=) n.754T= | |
| 11 | g.17387496A>C | CA379772341 | KCNJ11 | c.335T>G (p.Met112Arg) c.596T>G (p.Met199Arg) n.754T>G | |
| 11 | g.17387496A>G | CA379772343 | KCNJ11 | c.335T>C (p.Met112Thr) c.596T>C (p.Met199Thr) n.754T>C | |
| 11 | g.17387496A>T | CA379772344 | KCNJ11 | c.335T>A (p.Met112Lys) c.596T>A (p.Met199Lys) n.754T>A | |
| 11 | g.17387497T>A | CA379772345 | KCNJ11 | c.334A>T (p.Met112Leu) c.595A>T (p.Met199Leu) n.753A>T | |
| 11 | g.17387497T>C | CA379772349 | KCNJ11 | c.334A>G (p.Met112Val) c.595A>G (p.Met199Val) n.753A>G | |
| 11 | g.17387497T>G | CA379772352 | KCNJ11 | c.334A>C (p.Met112Leu) c.595A>C (p.Met199Leu) n.753A>C | |
| 11 | g.17387498G>A | CA473515421 | KCNJ11 | c.333C>T (p.Phe111=) c.594C>T (p.Phe198=) n.752C>T | COSMIC |
| 11 | g.17387498G>C | CA379772355 | KCNJ11 | c.333C>G (p.Phe111Leu) c.594C>G (p.Phe198Leu) n.752C>G | |
| 11 | g.17387498G>T | CA379772356 | KCNJ11 | c.333C>A (p.Phe111Leu) c.594C>A (p.Phe198Leu) n.752C>A | |
| 11 | g.17387499A>C | CA379772365 | KCNJ11 | c.332T>G (p.Phe111Cys) c.593T>G (p.Phe198Cys) n.751T>G | |
| 11 | g.17387499A>G | CA379772368 | KCNJ11 | c.332T>C (p.Phe111Ser) c.593T>C (p.Phe198Ser) n.751T>C | |
| 11 | g.17387499A>T | CA379772361 | KCNJ11 | c.332T>A (p.Phe111Tyr) c.593T>A (p.Phe198Tyr) n.751T>A | |
| 11 | g.17387500A= | CA1955119282 | KCNJ11 | c.331T= (p.Phe111=) c.592T= (p.Phe198=) n.750T= | |
| 11 | g.17387500A>C | CA379772371 | KCNJ11 | c.331T>G (p.Phe111Val) c.592T>G (p.Phe198Val) n.750T>G | |
| 11 | g.17387500A>G | CA379772372 | KCNJ11 | c.331T>C (p.Phe111Leu) c.592T>C (p.Phe198Leu) n.750T>C | |
| 11 | g.17387500A>T | CA379772373 | KCNJ11 | c.331T>A (p.Phe111Ile) c.592T>A (p.Phe198Ile) n.750T>A | |
| 11 | g.17387501G>A | CA473515424 | KCNJ11 | c.330C>T (p.Cys110=) c.591C>T (p.Cys197=) n.749C>T | |
| 11 | g.17387501G>C | CA379772377 | KCNJ11 | c.330C>G (p.Cys110Trp) c.591C>G (p.Cys197Trp) n.749C>G | |
| 11 | g.17387501G>T | CA379772380 | KCNJ11 | c.330C>A (p.Cys110Ter) c.591C>A (p.Cys197Ter) n.749C>A | |
| 11 | g.17387502C>A | CA379772385 | KCNJ11 | c.329G>T (p.Cys110Phe) c.590G>T (p.Cys197Phe) n.748G>T | |
| 11 | g.17387502C= | CA1955119283 | KCNJ11 | c.329G= (p.Cys110=) c.590G= (p.Cys197=) n.748G= | |
| 11 | g.17387502C>G | CA379772389 | KCNJ11 | c.329G>C (p.Cys110Ser) c.590G>C (p.Cys197Ser) n.748G>C | |
| 11 | g.17387502C>T | CA379772390 | KCNJ11 | c.329G>A (p.Cys110Tyr) c.590G>A (p.Cys197Tyr) n.748G>A | gnomAD |
| 11 | g.17387503A>C | CA379772392 | KCNJ11 | c.328T>G (p.Cys110Gly) c.589T>G (p.Cys197Gly) n.747T>G | |
| 11 | g.17387503A>G | CA379772395 | KCNJ11 | c.328T>C (p.Cys110Arg) c.589T>C (p.Cys197Arg) n.747T>C | |
| 11 | g.17387503A>T | CA379772399 | KCNJ11 | c.328T>A (p.Cys110Ser) c.589T>A (p.Cys197Ser) n.747T>A | |
| 11 | g.17387504G>A | CA473515426 | KCNJ11 | c.327C>T (p.Leu109=) c.588C>T (p.Leu196=) n.746C>T | |
| 11 | g.17387504G>C | CA473515427 | KCNJ11 | c.327C>G (p.Leu109=) c.588C>G (p.Leu196=) n.746C>G | |
| 11 | g.17387504G= | CA1955119284 | KCNJ11 | c.327C= (p.Leu109=) c.588C= (p.Leu196=) n.746C= | |
| 11 | g.17387504G>T | CA473515428 | KCNJ11 | c.327C>A (p.Leu109=) c.588C>A (p.Leu196=) n.746C>A | |
| 11 | g.17387505A>C | CA379772410 | KCNJ11 | c.326T>G (p.Leu109Arg) c.587T>G (p.Leu196Arg) n.745T>G | |
| 11 | g.17387505A>G | CA379772407 | KCNJ11 | c.326T>C (p.Leu109Pro) c.587T>C (p.Leu196Pro) n.745T>C | |
| 11 | g.17387505A>T | CA379772403 | KCNJ11 | c.326T>A (p.Leu109His) c.587T>A (p.Leu196His) n.745T>A | |
| 11 | g.17387505_17387508delinsAGGC | CA1955119285 | KCNJ11 | c.323_326delinsGCCT (p.Arg108=) c.584_587delinsGCCT (p.Arg195=) n.742_745delinsGCCT | |
| 11 | g.17387506G>A | CA379772415 | KCNJ11 | c.325C>T (p.Leu109Phe) c.586C>T (p.Leu196Phe) n.744C>T | |
| 11 | g.17387506G>C | CA379772416 | KCNJ11 | c.325C>G (p.Leu109Val) c.586C>G (p.Leu196Val) n.744C>G | |
| 11 | g.17387506G>T | CA379772418 | KCNJ11 | c.325C>A (p.Leu109Ile) c.586C>A (p.Leu196Ile) n.744C>A | |
| 11 | g.17387509_17387511del | CA10604675 | KCNJ11 | c.323_325del (p.Arg108del) c.584_586del (p.Arg195del) n.742_744del | dbSNP |
| 11 | g.17387507G>A | CA473515430 | KCNJ11 | c.324C>T (p.Arg108=) c.585C>T (p.Arg195=) n.743C>T | |
| 11 | g.17387507G>C | CA473515432 | KCNJ11 | c.324C>G (p.Arg108=) c.585C>G (p.Arg195=) n.743C>G |