| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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 | gnomAD v4 |
| 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 | gnomAD v4 |
| 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 | gnomAD v4 |
| 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 v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387509G>A | CA5902275 | KCNJ11 | c.322C>T (p.Arg108Cys) c.583C>T (p.Arg195Cys) n.741C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 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 | gnomAD v4 |
| 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 | gnomAD v4 |
| 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 | gnomAD v4 |
| 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 | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387513G>A | CA5902276 | KCNJ11 | c.318C>T (p.His106=) c.579C>T (p.His193=) n.737C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387513G>C | CA379772479 | KCNJ11 | c.318C>G (p.His106Gln) c.579C>G (p.His193Gln) n.737C>G | |
| 11 | g.17387513G= | CA1955119289 | KCNJ11 | c.318C= (p.His106=) c.579C= (p.His193=) n.737C= | |
| 11 | g.17387513G>T | CA379772489 | KCNJ11 | c.318C>A (p.His106Gln) c.579C>A (p.His193Gln) n.737C>A | gnomAD v4 |
| 11 | g.17387514T>A | CA379772493 | KCNJ11 | c.317A>T (p.His106Leu) c.578A>T (p.His193Leu) n.736A>T | |
| 11 | g.17387514T>C | CA5902277 | KCNJ11 | c.317A>G (p.His106Arg) c.578A>G (p.His193Arg) n.736A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387514T>G | CA379772513 | KCNJ11 | c.317A>C (p.His106Pro) c.578A>C (p.His193Pro) n.736A>C | dbSNP |
| 11 | g.17387514T= | CA1955119290 | KCNJ11 | c.317A= (p.His106=) c.578A= (p.His193=) n.736A= | |
| 11 | g.17387515G>A | CA379772516 | KCNJ11 | c.316C>T (p.His106Tyr) c.577C>T (p.His193Tyr) n.735C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387515G>C | CA379772521 | KCNJ11 | c.316C>G (p.His106Asp) c.577C>G (p.His193Asp) n.735C>G | |
| 11 | g.17387515G= | CA1955119291 | KCNJ11 | c.316C= (p.His106=) c.577C= (p.His193=) n.735C= | |
| 11 | g.17387515G>T | CA379772530 | KCNJ11 | c.316C>A (p.His106Asn) c.577C>A (p.His193Asn) n.735C>A | |
| 11 | g.17387516G>A | CA473515446 | KCNJ11 | c.315C>T (p.Arg105=) c.576C>T (p.Arg192=) n.734C>T | gnomAD v4 |
| 11 | g.17387516G>C | CA473515448 | KCNJ11 | c.315C>G (p.Arg105=) c.576C>G (p.Arg192=) n.734C>G | gnomAD v4 |
| 11 | g.17387516G>T | CA473515447 | KCNJ11 | c.315C>A (p.Arg105=) c.576C>A (p.Arg192=) n.734C>A | gnomAD v4 |
| 11 | g.17387517C>A | CA5902278 | KCNJ11 | c.314G>T (p.Arg105Leu) c.575G>T (p.Arg192Leu) n.733G>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387517C= | CA1955119292 | KCNJ11 | c.314G= (p.Arg105=) c.575G= (p.Arg192=) n.733G= | |
| 11 | g.17387517C>G | CA379772540 | KCNJ11 | c.314G>C (p.Arg105Pro) c.575G>C (p.Arg192Pro) n.733G>C | |
| 11 | g.17387517C>T | CA5902279 | KCNJ11 | c.314G>A (p.Arg105His) c.575G>A (p.Arg192His) n.733G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387518G>A | CA5902280 | KCNJ11 | c.313C>T (p.Arg105Cys) c.574C>T (p.Arg192Cys) n.732C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 11 | g.17387518G>C | CA379772552 | KCNJ11 | c.313C>G (p.Arg105Gly) c.574C>G (p.Arg192Gly) n.732C>G |