| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | |
| 11 | g.17387507G>T | CA473515433 | KCNJ11 | c.324C>A (p.Arg108=) c.585C>A (p.Arg195=) n.743C>A | |
| 11 | g.17387508C>A | CA379772431 | KCNJ11 | c.323G>T (p.Arg108Leu) c.584G>T (p.Arg195Leu) n.742G>T | |
| 11 | g.17387508C= | CA1955119286 | KCNJ11 | c.323G= (p.Arg108=) c.584G= (p.Arg195=) n.742G= | |
| 11 | g.17387508C>G | CA379772433 | KCNJ11 | c.323G>C (p.Arg108Pro) c.584G>C (p.Arg195Pro) n.742G>C | |
| 11 | g.17387508C>T | CA172338 | KCNJ11 | c.323G>A (p.Arg108His) c.584G>A (p.Arg195His) n.742G>A | ClinVar dbSNP ExAC gnomAD |
| 11 | g.17387509G>A | CA5902275 | KCNJ11 | c.322C>T (p.Arg108Cys) c.583C>T (p.Arg195Cys) n.741C>T | dbSNP ExAC gnomAD |
| 11 | g.17387509G>C | CA379772444 | KCNJ11 | c.322C>G (p.Arg108Gly) c.583C>G (p.Arg195Gly) n.741C>G | |
| 11 | g.17387509G= | CA1955119287 | KCNJ11 | c.322C= (p.Arg108=) c.583C= (p.Arg195=) n.741C= | |
| 11 | g.17387509G>T | CA379772446 | KCNJ11 | c.322C>A (p.Arg108Ser) c.583C>A (p.Arg195Ser) n.741C>A | |
| 11 | g.17387510G>A | CA473515436 | KCNJ11 | c.321C>T (p.Gly107=) c.582C>T (p.Gly194=) n.740C>T | |
| 11 | g.17387510G>C | CA473515439 | KCNJ11 | c.321C>G (p.Gly107=) c.582C>G (p.Gly194=) n.740C>G | |
| 11 | g.17387510G>T | CA473515437 | KCNJ11 | c.321C>A (p.Gly107=) c.582C>A (p.Gly194=) n.740C>A | |
| 11 | g.17387511C>A | CA379772453 | KCNJ11 | c.320G>T (p.Gly107Val) c.581G>T (p.Gly194Val) n.739G>T | |
| 11 | g.17387511C>G | CA379772457 | KCNJ11 | c.320G>C (p.Gly107Ala) c.581G>C (p.Gly194Ala) n.739G>C | |
| 11 | g.17387511C>T | CA379772461 | KCNJ11 | c.320G>A (p.Gly107Asp) c.581G>A (p.Gly194Asp) n.739G>A | |
| 11 | g.17387512C>A | CA379772471 | KCNJ11 | c.319G>T (p.Gly107Cys) c.580G>T (p.Gly194Cys) n.738G>T | |
| 11 | g.17387512C= | CA1955119288 | KCNJ11 | c.319G= (p.Gly107=) c.580G= (p.Gly194=) n.738G= | |
| 11 | g.17387512C>G | CA379772475 | KCNJ11 | c.319G>C (p.Gly107Arg) c.580G>C (p.Gly194Arg) n.738G>C | |
| 11 | g.17387512C>T | CA379772468 | KCNJ11 | c.319G>A (p.Gly107Ser) c.580G>A (p.Gly194Ser) n.738G>A | gnomAD |