UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.17387491G>A | CA119825 | KCNJ11 | c.340C>T (p.Arg114Cys) c.601C>T (p.Arg201Cys) n.759C>T | ClinVar dbSNP |
| 11 | g.17387491G>C | CA379772294 | KCNJ11 | c.340C>G (p.Arg114Gly) c.601C>G (p.Arg201Gly) n.759C>G | |
| 11 | g.17387491G= | CA1955119279 | KCNJ11 | c.340C= (p.Arg114=) c.601C= (p.Arg201=) n.759C= | |
| 11 | g.17387491G>T | CA379772296 | KCNJ11 | c.340C>A (p.Arg114Ser) c.601C>A (p.Arg201Ser) n.759C>A | |
| 11 | g.17387492T>A | CA5902274 | KCNJ11 | c.339A>T (p.Leu113=) c.600A>T (p.Leu200=) n.758A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387492T>C | CA473515700 | KCNJ11 | c.339A>G (p.Leu113=) c.600A>G (p.Leu200=) n.758A>G | dbSNP gnomAD v4 |
| 11 | g.17387492T>G | CA473515701 | KCNJ11 | c.339A>C (p.Leu113=) c.600A>C (p.Leu200=) n.758A>C | |
| 11 | g.17387492T= | CA1955119280 | KCNJ11 | c.339A= (p.Leu113=) c.600A= (p.Leu200=) n.758A= | |
| 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 | dbSNP gnomAD v4 |
| 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 | gnomAD v4 |
| 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 | dbSNP |
| 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 | dbSNP gnomAD v2 |
| 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 | dbSNP |
| 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 | gnomAD v4 |
| 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 | ClinVar 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 | |
| 11 | g.17387518G= | CA1955119293 | KCNJ11 | c.313C= (p.Arg105=) c.574C= (p.Arg192=) n.732C= | |
| 11 | g.17387518G>T | CA379772555 | KCNJ11 | c.313C>A (p.Arg105Ser) c.574C>A (p.Arg192Ser) n.732C>A | gnomAD v4 |
| 11 | g.17387519C>A | CA473515450 | KCNJ11 | c.312G>T (p.Leu104=) c.573G>T (p.Leu191=) n.731G>T | |
| 11 | g.17387519C>G | CA473515451 | KCNJ11 | c.312G>C (p.Leu104=) c.573G>C (p.Leu191=) n.731G>C | |
| 11 | g.17387519C>T | CA473515452 | KCNJ11 | c.312G>A (p.Leu104=) c.573G>A (p.Leu191=) n.731G>A | gnomAD v4 |
| 11 | g.17387520A= | CA1955119294 | KCNJ11 | c.311T= (p.Leu104=) c.572T= (p.Leu191=) n.730T= | |
| 11 | g.17387520A>C | CA379772567 | KCNJ11 | c.311T>G (p.Leu104Arg) c.572T>G (p.Leu191Arg) n.730T>G | dbSNP |
| 11 | g.17387520A>G | CA379772566 | KCNJ11 | c.311T>C (p.Leu104Pro) c.572T>C (p.Leu191Pro) n.730T>C | |
| 11 | g.17387520A>T | CA379772562 | KCNJ11 | c.311T>A (p.Leu104Gln) c.572T>A (p.Leu191Gln) n.730T>A | |
| 11 | g.17387521G>A | CA473515453 | KCNJ11 | c.310C>T (p.Leu104=) c.571C>T (p.Leu191=) n.729C>T | |
| 11 | g.17387521G>C | CA379772568 | KCNJ11 | c.310C>G (p.Leu104Val) c.571C>G (p.Leu191Val) n.729C>G | gnomAD v4 |
| 11 | g.17387521G>T | CA379772569 | KCNJ11 | c.310C>A (p.Leu104Met) c.571C>A (p.Leu191Met) n.729C>A | |
| 11 | g.17387522G>A | CA172336 | KCNJ11 | c.309C>T (p.Ala103=) c.570C>T (p.Ala190=) n.728C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387522G>C | CA473515457 | KCNJ11 | c.309C>G (p.Ala103=) c.570C>G (p.Ala190=) n.728C>G | |
| 11 | g.17387522G= | CA1955119295 | KCNJ11 | c.309C= (p.Ala103=) c.570C= (p.Ala190=) n.728C= | |
| 11 | g.17387522G>T | CA5902281 | KCNJ11 | c.309C>A (p.Ala103=) c.570C>A (p.Ala190=) n.728C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387523G>A | CA379772578 | KCNJ11 | c.308C>T (p.Ala103Val) c.569C>T (p.Ala190Val) n.727C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387523G>C | CA379772582 | KCNJ11 | c.308C>G (p.Ala103Gly) c.569C>G (p.Ala190Gly) n.727C>G | |
| 11 | g.17387523G= | CA1955119296 | KCNJ11 | c.308C= (p.Ala103=) c.569C= (p.Ala190=) n.727C= | |
| 11 | g.17387523G>T | CA379772586 | KCNJ11 | c.308C>A (p.Ala103Asp) c.569C>A (p.Ala190Asp) n.727C>A | dbSNP gnomAD v4 |
| 11 | g.17387524C>A | CA379772592 | KCNJ11 | c.307G>T (p.Ala103Ser) c.568G>T (p.Ala190Ser) n.726G>T | gnomAD v4 |
| 11 | g.17387524C= | CA1955119297 | KCNJ11 | c.307G= (p.Ala103=) c.568G= (p.Ala190=) n.726G= | |
| 11 | g.17387524C>G | CA218399831 | KCNJ11 | c.307G>C (p.Ala103Pro) c.568G>C (p.Ala190Pro) n.726G>C | dbSNP |
| 11 | g.17387524C>T | CA5902282 | KCNJ11 | c.307G>A (p.Ala103Thr) c.568G>A (p.Ala190Thr) n.726G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387525G>A | CA207806 | KCNJ11 | c.306C>T (p.Ile102=) c.567C>T (p.Ile189=) n.725C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387525G>C | CA379772599 | KCNJ11 | c.306C>G (p.Ile102Met) c.567C>G (p.Ile189Met) n.725C>G | dbSNP |
| 11 | g.17387525G= | CA1955119298 | KCNJ11 | c.306C= (p.Ile102=) c.567C= (p.Ile189=) n.725C= | |
| 11 | g.17387525G>T | CA5902283 | KCNJ11 | c.306C>A (p.Ile102=) c.567C>A (p.Ile189=) n.725C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387526A>C | CA379772618 | KCNJ11 | c.305T>G (p.Ile102Ser) c.566T>G (p.Ile189Ser) n.724T>G | |
| 11 | g.17387526A>G | CA379772612 | KCNJ11 | c.305T>C (p.Ile102Thr) c.566T>C (p.Ile189Thr) n.724T>C | |
| 11 | g.17387526A>T | CA379772608 | KCNJ11 | c.305T>A (p.Ile102Asn) c.566T>A (p.Ile189Asn) n.724T>A | |
| 11 | g.17387527T>A | CA379772621 | KCNJ11 | c.304A>T (p.Ile102Phe) c.565A>T (p.Ile189Phe) n.723A>T | |
| 11 | g.17387527T>C | CA379772626 | KCNJ11 | c.304A>G (p.Ile102Val) c.565A>G (p.Ile189Val) n.723A>G | |
| 11 | g.17387527T>G | CA379772631 | KCNJ11 | c.304A>C (p.Ile102Leu) c.565A>C (p.Ile189Leu) n.723A>C | |
| 11 | g.17387528C>A | CA473515462 | KCNJ11 | c.303G>T (p.Val101=) c.564G>T (p.Val188=) n.722G>T | |
| 11 | g.17387528C= | CA1955119299 | KCNJ11 | c.303G= (p.Val101=) c.564G= (p.Val188=) n.722G= | |
| 11 | g.17387528C>G | CA473515463 | KCNJ11 | c.303G>C (p.Val101=) c.564G>C (p.Val188=) n.722G>C | |
| 11 | g.17387528C>T | CA473515464 | KCNJ11 | c.303G>A (p.Val101=) c.564G>A (p.Val188=) n.722G>A | dbSNP gnomAD v2 |
| 11 | g.17387529A>C | CA379772636 | KCNJ11 | c.302T>G (p.Val101Gly) c.563T>G (p.Val188Gly) n.721T>G | |
| 11 | g.17387529A>G | CA379772639 | KCNJ11 | c.302T>C (p.Val101Ala) c.563T>C (p.Val188Ala) n.721T>C | |
| 11 | g.17387529A>T | CA379772646 | KCNJ11 | c.302T>A (p.Val101Glu) c.563T>A (p.Val188Glu) n.721T>A | |
| 11 | g.17387530C>A | CA379772649 | KCNJ11 | c.301G>T (p.Val101Leu) c.562G>T (p.Val188Leu) n.720G>T | gnomAD v4 |
| 11 | g.17387530C>G | CA379772654 | KCNJ11 | c.301G>C (p.Val101Leu) c.562G>C (p.Val188Leu) n.720G>C | |
| 11 | g.17387530C>T | CA379772657 | KCNJ11 | c.301G>A (p.Val101Met) c.562G>A (p.Val188Met) n.720G>A | gnomAD v4 |
| 11 | g.17387531C>A | CA473515467 | KCNJ11 | c.300G>T (p.Ala100=) c.561G>T (p.Ala187=) n.719G>T | |
| 11 | g.17387531C= | CA1955119300 | KCNJ11 | c.300G= (p.Ala100=) c.561G= (p.Ala187=) n.719G= | |
| 11 | g.17387531C>G | CA473515469 | KCNJ11 | c.300G>C (p.Ala100=) c.561G>C (p.Ala187=) n.719G>C | |
| 11 | g.17387531C>T | CA473515468 | KCNJ11 | c.300G>A (p.Ala100=) c.561G>A (p.Ala187=) n.719G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.17387532G>A | CA379772664 | KCNJ11 | c.299C>T (p.Ala100Val) c.560C>T (p.Ala187Val) n.718C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387532G>C | CA379772673 | KCNJ11 | c.299C>G (p.Ala100Gly) c.560C>G (p.Ala187Gly) n.718C>G | |
| 11 | g.17387532G= | CA1955119301 | KCNJ11 | c.299C= (p.Ala100=) c.560C= (p.Ala187=) n.718C= | |
| 11 | g.17387532G>T | CA379772677 | KCNJ11 | c.299C>A (p.Ala100Glu) c.560C>A (p.Ala187Glu) n.718C>A | gnomAD v4 |
| 11 | g.17387533C>A | CA379772689 | KCNJ11 | c.298G>T (p.Ala100Ser) c.559G>T (p.Ala187Ser) n.717G>T | |
| 11 | g.17387533C= | CA1955119302 | KCNJ11 | c.298G= (p.Ala100=) c.559G= (p.Ala187=) n.717G= | |
| 11 | g.17387533C>G | CA379772692 | KCNJ11 | c.298G>C (p.Ala100Pro) c.559G>C (p.Ala187Pro) n.717G>C | |
| 11 | g.17387533C>T | CA379772684 | KCNJ11 | c.298G>A (p.Ala100Thr) c.559G>A (p.Ala187Thr) n.717G>A | dbSNP |
| 11 | g.17387534A= | CA1955119303 | KCNJ11 | c.297T= (p.His99=) c.558T= (p.His186=) n.716T= | |
| 11 | g.17387534A>C | CA379772696 | KCNJ11 | c.297T>G (p.His99Gln) c.558T>G (p.His186Gln) n.716T>G | |
| 11 | g.17387534A>G | CA473515471 | KCNJ11 | c.297T>C (p.His99=) c.558T>C (p.His186=) n.716T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387534A>T | CA379772699 | KCNJ11 | c.297T>A (p.His99Gln) c.558T>A (p.His186Gln) n.716T>A | |
| 11 | g.17387535T>A | CA379772703 | KCNJ11 | c.296A>T (p.His99Leu) c.557A>T (p.His186Leu) n.715A>T | |
| 11 | g.17387535T>C | CA379772706 | KCNJ11 | c.296A>G (p.His99Arg) c.557A>G (p.His186Arg) n.715A>G | |
| 11 | g.17387535T>G | CA379772710 | KCNJ11 | c.296A>C (p.His99Pro) c.557A>C (p.His186Pro) n.715A>C | |
| 11 | g.17387536G>A | CA379772721 | KCNJ11 | c.295C>T (p.His99Tyr) c.556C>T (p.His186Tyr) n.714C>T | ClinVar gnomAD v4 |
| 11 | g.17387536G>C | CA379772714 | KCNJ11 | c.295C>G (p.His99Asp) c.556C>G (p.His186Asp) n.714C>G | ClinVar dbSNP |
| 11 | g.17387536G>T | CA379772720 | KCNJ11 | c.295C>A (p.His99Asn) c.556C>A (p.His186Asn) n.714C>A | gnomAD v4 |
| 11 | g.17387537C>A | CA379772722 | KCNJ11 | c.294G>T (p.Lys98Asn) c.555G>T (p.Lys185Asn) n.713G>T | |
| 11 | g.17387537C>G | CA379772723 | KCNJ11 | c.294G>C (p.Lys98Asn) c.555G>C (p.Lys185Asn) n.713G>C | |
| 11 | g.17387537C>T | CA473515472 | KCNJ11 | c.294G>A (p.Lys98=) c.555G>A (p.Lys185=) n.713G>A | |
| 11 | g.17387538T>A | CA379772726 | KCNJ11 | c.293A>T (p.Lys98Met) c.554A>T (p.Lys185Met) n.712A>T | |
| 11 | g.17387538T>C | CA379772729 | KCNJ11 | c.293A>G (p.Lys98Arg) c.554A>G (p.Lys185Arg) n.712A>G | |
| 11 | g.17387538T>G | CA379772730 | KCNJ11 | c.293A>C (p.Lys98Thr) c.554A>C (p.Lys185Thr) n.712A>C | |
| 11 | g.17387539T>A | CA379772737 | KCNJ11 | c.292A>T (p.Lys98Ter) c.553A>T (p.Lys185Ter) n.711A>T | |
| 11 | g.17387539T>C | CA379772734 | KCNJ11 | c.292A>G (p.Lys98Glu) c.553A>G (p.Lys185Glu) n.711A>G | |
| 11 | g.17387539T>G | CA379772731 | KCNJ11 | c.292A>C (p.Lys98Gln) c.553A>C (p.Lys185Gln) n.711A>C | |
| 11 | g.17387540G>A | CA473515476 | KCNJ11 | c.291C>T (p.Ser97=) c.552C>T (p.Ser184=) n.710C>T | ClinVar gnomAD v4 |
| 11 | g.17387540G>C | CA379772741 | KCNJ11 | c.291C>G (p.Ser97Arg) c.552C>G (p.Ser184Arg) n.710C>G | |
| 11 | g.17387540G>T | CA379772744 | KCNJ11 | c.291C>A (p.Ser97Arg) c.552C>A (p.Ser184Arg) n.710C>A | |
| 11 | g.17387541C>A | CA379772751 | KCNJ11 | c.290G>T (p.Ser97Ile) c.551G>T (p.Ser184Ile) n.709G>T | |
| 11 | g.17387541C>G | CA379772753 | KCNJ11 | c.290G>C (p.Ser97Thr) c.551G>C (p.Ser184Thr) n.709G>C | |
| 11 | g.17387541C>T | CA379772763 | KCNJ11 | c.290G>A (p.Ser97Asn) c.551G>A (p.Ser184Asn) n.709G>A | |
| 11 | g.17387542T>A | CA379772770 | KCNJ11 | c.289A>T (p.Ser97Cys) c.550A>T (p.Ser184Cys) n.708A>T | |
| 11 | g.17387542T>C | CA379772773 | KCNJ11 | c.289A>G (p.Ser97Gly) c.550A>G (p.Ser184Gly) n.708A>G | |
| 11 | g.17387542T>G | CA379772774 | KCNJ11 | c.289A>C (p.Ser97Arg) c.550A>C (p.Ser184Arg) n.708A>C | |
| 11 | g.17387543G>A | CA473515480 | KCNJ11 | c.288C>T (p.Phe96=) c.549C>T (p.Phe183=) n.707C>T | |
| 11 | g.17387543G>C | CA379772775 | KCNJ11 | c.288C>G (p.Phe96Leu) c.549C>G (p.Phe183Leu) n.707C>G | |
| 11 | g.17387543G>T | CA379772776 | KCNJ11 | c.288C>A (p.Phe96Leu) c.549C>A (p.Phe183Leu) n.707C>A | gnomAD v4 |
| 11 | g.17387544A>C | CA379772780 | KCNJ11 | c.287T>G (p.Phe96Cys) c.548T>G (p.Phe183Cys) n.706T>G | |
| 11 | g.17387544A>G | CA379772784 | KCNJ11 | c.287T>C (p.Phe96Ser) c.548T>C (p.Phe183Ser) n.706T>C | |
| 11 | g.17387544A>T | CA379772792 | KCNJ11 | c.287T>A (p.Phe96Tyr) c.548T>A (p.Phe183Tyr) n.706T>A | |
| 11 | g.17387545A>C | CA379772807 | KCNJ11 | c.286T>G (p.Phe96Val) c.547T>G (p.Phe183Val) n.705T>G | |
| 11 | g.17387545A>G | CA379772805 | KCNJ11 | c.286T>C (p.Phe96Leu) c.547T>C (p.Phe183Leu) n.705T>C | |
| 11 | g.17387545A>T | CA379772799 | KCNJ11 | c.286T>A (p.Phe96Ile) c.547T>A (p.Phe183Ile) n.705T>A | |
| 11 | g.17387546G>A | CA473515485 | KCNJ11 | c.285C>T (p.Ile95=) c.546C>T (p.Ile182=) n.704C>T | |
| 11 | g.17387546G>C | CA379772812 | KCNJ11 | c.285C>G (p.Ile95Met) c.546C>G (p.Ile182Met) n.704C>G | |
| 11 | g.17387546G>T | CA473515484 | KCNJ11 | c.285C>A (p.Ile95=) c.546C>A (p.Ile182=) n.704C>A | |
| 11 | g.17387547A>C | CA379772821 | KCNJ11 | c.284T>G (p.Ile95Ser) c.545T>G (p.Ile182Ser) n.703T>G | |
| 11 | g.17387547A>G | CA379772826 | KCNJ11 | c.284T>C (p.Ile95Thr) c.545T>C (p.Ile182Thr) n.703T>C | |
| 11 | g.17387547A>T | CA379772831 | KCNJ11 | c.284T>A (p.Ile95Asn) c.545T>A (p.Ile182Asn) n.703T>A | |
| 11 | g.17387548T>A | CA379772851 | KCNJ11 | c.283A>T (p.Ile95Phe) c.544A>T (p.Ile182Phe) n.702A>T | |
| 11 | g.17387548T>C | CA341722 | KCNJ11 | c.283A>G (p.Ile95Val) c.544A>G (p.Ile182Val) n.702A>G | ClinVar dbSNP |
| 11 | g.17387548T>G | CA379772852 | KCNJ11 | c.283A>C (p.Ile95Leu) c.544A>C (p.Ile182Leu) n.702A>C | |
| 11 | g.17387548T= | CA1955119304 | KCNJ11 | c.283A= (p.Ile95=) c.544A= (p.Ile182=) n.702A= | |
| 11 | g.17387549G>A | CA473515488 | KCNJ11 | c.282C>T (p.Leu94=) c.543C>T (p.Leu181=) n.701C>T | gnomAD v4 |
| 11 | g.17387549G>C | CA473515489 | KCNJ11 | c.282C>G (p.Leu94=) c.543C>G (p.Leu181=) n.701C>G | |
| 11 | g.17387549G>T | CA473515490 | KCNJ11 | c.282C>A (p.Leu94=) c.543C>A (p.Leu181=) n.701C>A | |
| 11 | g.17387550A>C | CA379772854 | KCNJ11 | c.281T>G (p.Leu94Arg) c.542T>G (p.Leu181Arg) n.700T>G | |
| 11 | g.17387550A>G | CA379772857 | KCNJ11 | c.281T>C (p.Leu94Pro) c.542T>C (p.Leu181Pro) n.700T>C | |
| 11 | g.17387550A>T | CA379772859 | KCNJ11 | c.281T>A (p.Leu94His) c.542T>A (p.Leu181His) n.700T>A | |
| 11 | g.17387551G>A | CA379772866 | KCNJ11 | c.280C>T (p.Leu94Phe) c.541C>T (p.Leu181Phe) n.699C>T | ClinVar dbSNP |
| 11 | g.17387551G>C | CA379772870 | KCNJ11 | c.280C>G (p.Leu94Val) c.541C>G (p.Leu181Val) n.699C>G | |
| 11 | g.17387551G= | CA1955119305 | KCNJ11 | c.280C= (p.Leu94=) c.541C= (p.Leu181=) n.699C= | |
| 11 | g.17387551G>T | CA379772874 | KCNJ11 | c.280C>A (p.Leu94Ile) c.541C>A (p.Leu181Ile) n.699C>A | gnomAD v4 |
| 11 | g.17387552G>A | CA473515491 | KCNJ11 | c.279C>T (p.Thr93=) c.540C>T (p.Thr180=) n.698C>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387552G>C | CA5902284 | KCNJ11 | c.279C>G (p.Thr93=) c.540C>G (p.Thr180=) n.698C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.17387552G= | CA1955119306 | KCNJ11 | c.279C= (p.Thr93=) c.540C= (p.Thr180=) n.698C= | |
| 11 | g.17387552G>T | CA473515492 | KCNJ11 | c.279C>A (p.Thr93=) c.540C>A (p.Thr180=) n.698C>A | gnomAD v4 |
| 11 | g.17387553G>A | CA379772885 | KCNJ11 | c.278C>T (p.Thr93Ile) c.539C>T (p.Thr180Ile) n.697C>T | gnomAD v4 |
| 11 | g.17387553G>C | CA379772891 | KCNJ11 | c.278C>G (p.Thr93Ser) c.539C>G (p.Thr180Ser) n.697C>G | |
| 11 | g.17387553G= | CA1955119307 | KCNJ11 | c.278C= (p.Thr93=) c.539C= (p.Thr180=) n.697C= | |
| 11 | g.17387553G>T | CA379772882 | KCNJ11 | c.278C>A (p.Thr93Asn) c.539C>A (p.Thr180Asn) n.697C>A | ClinVar dbSNP |
| 11 | g.17387554T>A | CA379772896 | KCNJ11 | c.277A>T (p.Thr93Ser) c.538A>T (p.Thr180Ser) n.696A>T | |
| 11 | g.17387554T>C | CA379772901 | KCNJ11 | c.277A>G (p.Thr93Ala) c.538A>G (p.Thr180Ala) n.696A>G | |
| 11 | g.17387554T>G | CA379772904 | KCNJ11 | c.277A>C (p.Thr93Pro) c.538A>C (p.Thr180Pro) n.696A>C | |
| 11 | g.17387555C>A | CA379772905 | KCNJ11 | c.276G>T (p.Glu92Asp) c.537G>T (p.Glu179Asp) n.695G>T | |
| 11 | g.17387555C>G | CA379772906 | KCNJ11 | c.276G>C (p.Glu92Asp) c.537G>C (p.Glu179Asp) n.695G>C | |
| 11 | g.17387555C>T | CA473515494 | KCNJ11 | c.276G>A (p.Glu92=) c.537G>A (p.Glu179=) n.695G>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387556T>A | CA379772914 | KCNJ11 | c.275A>T (p.Glu92Val) c.536A>T (p.Glu179Val) n.694A>T | |
| 11 | g.17387556T>C | CA379772911 | KCNJ11 | c.275A>G (p.Glu92Gly) c.536A>G (p.Glu179Gly) n.694A>G | |
| 11 | g.17387556T>G | CA172332 | KCNJ11 | c.275A>C (p.Glu92Ala) c.536A>C (p.Glu179Ala) n.694A>C | ClinVar dbSNP |
| 11 | g.17387556T= | CA1955119308 | KCNJ11 | c.275A= (p.Glu92=) c.536A= (p.Glu179=) n.694A= | |
| 11 | g.17387557C>A | CA379772919 | KCNJ11 | c.274G>T (p.Glu92Ter) c.535G>T (p.Glu179Ter) n.693G>T | |
| 11 | g.17387557C>G | CA379772923 | KCNJ11 | c.274G>C (p.Glu92Gln) c.535G>C (p.Glu179Gln) n.693G>C | |
| 11 | g.17387557C>T | CA379772927 | KCNJ11 | c.274G>A (p.Glu92Lys) c.535G>A (p.Glu179Lys) n.693G>A | |
| 11 | g.17387558A>C | CA473515495 | KCNJ11 | c.273T>G (p.Ala91=) c.534T>G (p.Ala178=) n.692T>G | |
| 11 | g.17387558A>G | CA473515497 | KCNJ11 | c.273T>C (p.Ala91=) c.534T>C (p.Ala178=) n.692T>C | |
| 11 | g.17387558A>T | CA473515496 | KCNJ11 | c.273T>A (p.Ala91=) c.534T>A (p.Ala178=) n.692T>A | |
| 11 | g.17387559G>A | CA379772933 | KCNJ11 | c.272C>T (p.Ala91Val) c.533C>T (p.Ala178Val) n.691C>T | |
| 11 | g.17387559G>C | CA379772935 | KCNJ11 | c.272C>G (p.Ala91Gly) c.533C>G (p.Ala178Gly) n.691C>G | |
| 11 | g.17387559G>T | CA379772940 | KCNJ11 | c.272C>A (p.Ala91Asp) c.533C>A (p.Ala178Asp) n.691C>A | gnomAD v4 |
| 11 | g.17387559_17387560delinsGC | CA1955119309 | KCNJ11 | c.271_272delinsGC (p.Ala91=) c.532_533delinsGC (p.Ala178=) n.690_691delinsGC | |
| 11 | g.17387560C>A | CA379772947 | KCNJ11 | c.271G>T (p.Ala91Ser) c.532G>T (p.Ala178Ser) n.690G>T | |
| 11 | g.17387560C= | CA1955119310 | KCNJ11 | c.271G= (p.Ala91=) c.532G= (p.Ala178=) n.690G= | |
| 11 | g.17387560C>G | CA379772956 | KCNJ11 | c.271G>C (p.Ala91Pro) c.532G>C (p.Ala178Pro) n.690G>C | |
| 11 | g.17387560C>T | CA5902285 | KCNJ11 | c.271G>A (p.Ala91Thr) c.532G>A (p.Ala178Thr) n.690G>A | dbSNP ExAC gnomAD v2 COSMIC |
| 11 | g.17387562del | CA658656127 | KCNJ11 | c.271del (p.Ala91LeufsTer11) c.532del (p.Ala178LeufsTer11) n.690del | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387561C>A | CA379772962 | KCNJ11 | c.270G>T (p.Arg90Ser) c.531G>T (p.Arg177Ser) n.689G>T | |
| 11 | g.17387561C>G | CA379772966 | KCNJ11 | c.270G>C (p.Arg90Ser) c.531G>C (p.Arg177Ser) n.689G>C | |
| 11 | g.17387561C>T | CA473515498 | KCNJ11 | c.270G>A (p.Arg90=) c.531G>A (p.Arg177=) n.689G>A | |
| 11 | g.17387562C>A | CA379772970 | KCNJ11 | c.269G>T (p.Arg90Met) c.530G>T (p.Arg177Met) n.688G>T | |
| 11 | g.17387562C>G | CA379772976 | KCNJ11 | c.269G>C (p.Arg90Thr) c.530G>C (p.Arg177Thr) n.688G>C | |
| 11 | g.17387562C>T | CA379772978 | KCNJ11 | c.269G>A (p.Arg90Lys) c.530G>A (p.Arg177Lys) n.688G>A | |
| 11 | g.17387563T>A | CA379772983 | KCNJ11 | c.268A>T (p.Arg90Trp) c.529A>T (p.Arg177Trp) n.687A>T | |
| 11 | g.17387563T>C | CA379772987 | KCNJ11 | c.268A>G (p.Arg90Gly) c.529A>G (p.Arg177Gly) n.687A>G | |
| 11 | g.17387563T>G | CA473515499 | KCNJ11 | c.268A>C (p.Arg90=) c.529A>C (p.Arg177=) n.687A>C | ClinVar |
| 11 | g.17387564G>A | CA473515500 | KCNJ11 | c.267C>T (p.Arg89=) c.528C>T (p.Arg176=) n.686C>T | |
| 11 | g.17387564G>C | CA473515501 | KCNJ11 | c.267C>G (p.Arg89=) c.528C>G (p.Arg176=) n.686C>G | |
| 11 | g.17387564G= | CA1955119311 | KCNJ11 | c.267C= (p.Arg89=) c.528C= (p.Arg176=) n.686C= | |
| 11 | g.17387564G>T | CA473515502 | KCNJ11 | c.267C>A (p.Arg89=) c.528C>A (p.Arg176=) n.686C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387565C>A | CA379772992 | KCNJ11 | c.266G>T (p.Arg89Leu) c.527G>T (p.Arg176Leu) n.685G>T | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387565C= | CA1955119312 | KCNJ11 | c.266G= (p.Arg89=) c.527G= (p.Arg176=) n.685G= | |
| 11 | g.17387565C>G | CA379772999 | KCNJ11 | c.266G>C (p.Arg89Pro) c.527G>C (p.Arg176Pro) n.685G>C | |
| 11 | g.17387565C>T | CA379773008 | KCNJ11 | c.266G>A (p.Arg89His) c.527G>A (p.Arg176His) n.685G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387566G>A | CA205789 | KCNJ11 | c.265C>T (p.Arg89Cys) c.526C>T (p.Arg176Cys) n.684C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 11 | g.17387566G>C | CA379773015 | KCNJ11 | c.265C>G (p.Arg89Gly) c.526C>G (p.Arg176Gly) n.684C>G | ClinVar |
| 11 | g.17387566G= | CA1955119313 | KCNJ11 | c.265C= (p.Arg89=) c.526C= (p.Arg176=) n.684C= | |
| 11 | g.17387566G>T | CA379773013 | KCNJ11 | c.265C>A (p.Arg89Ser) c.526C>A (p.Arg176Ser) n.684C>A | |
| 11 | g.17387567G>A | CA218399854 | KCNJ11 | c.264C>T (p.His88=) c.525C>T (p.His175=) n.683C>T | ClinVar dbSNP |
| 11 | g.17387567G>C | CA379773029 | KCNJ11 | c.264C>G (p.His88Gln) c.525C>G (p.His175Gln) n.683C>G | |
| 11 | g.17387567G= | CA1955119314 | KCNJ11 | c.264C= (p.His88=) c.525C= (p.His175=) n.683C= | |
| 11 | g.17387567G>T | CA10630460 | KCNJ11 | c.264C>A (p.His88Gln) c.525C>A (p.His175Gln) n.683C>A | ClinVar dbSNP gnomAD v4 |
| 11 | g.17387568T>A | CA379773037 | KCNJ11 | c.263A>T (p.His88Leu) c.524A>T (p.His175Leu) n.682A>T | |
| 11 | g.17387568T>C | CA379773038 | KCNJ11 | c.263A>G (p.His88Arg) c.524A>G (p.His175Arg) n.682A>G | dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.17387568T>G | CA379773044 | KCNJ11 | c.263A>C (p.His88Pro) c.524A>C (p.His175Pro) n.682A>C | |
| 11 | g.17387568T= | CA1955119315 | KCNJ11 | c.263A= (p.His88=) c.524A= (p.His175=) n.682A= | |
| 11 | g.17387569G>A | CA379773050 | KCNJ11 | c.262C>T (p.His88Tyr) c.523C>T (p.His175Tyr) n.681C>T | |
| 11 | g.17387569G>C | CA379773051 | KCNJ11 | c.262C>G (p.His88Asp) c.523C>G (p.His175Asp) n.681C>G | |
| 11 | g.17387569G>T | CA379773054 | KCNJ11 | c.262C>A (p.His88Asn) c.523C>A (p.His175Asn) n.681C>A | |
| 11 | g.17387570G>A | CA473515503 | KCNJ11 | c.261C>T (p.Ala87=) c.522C>T (p.Ala174=) n.680C>T | gnomAD v4 COSMIC |
| 11 | g.17387570G>C | CA473515504 | KCNJ11 | c.261C>G (p.Ala87=) c.522C>G (p.Ala174=) n.680C>G | |
| 11 | g.17387570G>T | CA473515505 | KCNJ11 | c.261C>A (p.Ala87=) c.522C>A (p.Ala174=) n.680C>A | COSMIC |
| 11 | g.17387571G>A | CA379773067 | KCNJ11 | c.260C>T (p.Ala87Val) c.521C>T (p.Ala174Val) n.679C>T | |
| 11 | g.17387571G>C | CA172330 | KCNJ11 | c.260C>G (p.Ala87Gly) c.521C>G (p.Ala174Gly) n.679C>G | ClinVar dbSNP |
| 11 | g.17387571G= | CA1955119316 | KCNJ11 | c.260C= (p.Ala87=) c.521C= (p.Ala174=) n.679C= | |
| 11 | g.17387571G>T | CA379773062 | KCNJ11 | c.260C>A (p.Ala87Asp) c.521C>A (p.Ala174Asp) n.679C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387572C>A | CA379773073 | KCNJ11 | c.259G>T (p.Ala87Ser) c.520G>T (p.Ala174Ser) n.678G>T | |
| 11 | g.17387572C>G | CA379773077 | KCNJ11 | c.259G>C (p.Ala87Pro) c.520G>C (p.Ala174Pro) n.678G>C | |
| 11 | g.17387572C>T | CA379773080 | KCNJ11 | c.259G>A (p.Ala87Thr) c.520G>A (p.Ala174Thr) n.678G>A | |
| 11 | g.17387573T>A | CA379773084 | KCNJ11 | c.258A>T (p.Gln86His) c.519A>T (p.Gln173His) n.677A>T | |
| 11 | g.17387573T>C | CA473515506 | KCNJ11 | c.258A>G (p.Gln86=) c.519A>G (p.Gln173=) n.677A>G | dbSNP |
| 11 | g.17387573T>G | CA379773087 | KCNJ11 | c.258A>C (p.Gln86His) c.519A>C (p.Gln173His) n.677A>C | |
| 11 | g.17387573T= | CA1955119317 | KCNJ11 | c.258A= (p.Gln86=) c.519A= (p.Gln173=) n.677A= | |
| 11 | g.17387574T>A | CA379773098 | KCNJ11 | c.257A>T (p.Gln86Leu) c.518A>T (p.Gln173Leu) n.676A>T | |
| 11 | g.17387574T>C | CA379773092 | KCNJ11 | c.257A>G (p.Gln86Arg) c.518A>G (p.Gln173Arg) n.676A>G | |
| 11 | g.17387574T>G | CA379773095 | KCNJ11 | c.257A>C (p.Gln86Pro) c.518A>C (p.Gln173Pro) n.676A>C | |
| 11 | g.17387575G>A | CA379773103 | KCNJ11 | c.256C>T (p.Gln86Ter) c.517C>T (p.Gln173Ter) n.675C>T | |
| 11 | g.17387575G>C | CA379773106 | KCNJ11 | c.256C>G (p.Gln86Glu) c.517C>G (p.Gln173Glu) n.675C>G | |
| 11 | g.17387575G>T | CA379773110 | KCNJ11 | c.256C>A (p.Gln86Lys) c.517C>A (p.Gln173Lys) n.675C>A | gnomAD v4 |
| 11 | g.17387576G>A | CA473515507 | KCNJ11 | c.255C>T (p.Ala85=) c.516C>T (p.Ala172=) n.674C>T | |
| 11 | g.17387576G>C | CA473515508 | KCNJ11 | c.255C>G (p.Ala85=) c.516C>G (p.Ala172=) n.674C>G | |
| 11 | g.17387576G>T | CA473515509 | KCNJ11 | c.255C>A (p.Ala85=) c.516C>A (p.Ala172=) n.674C>A | |
| 11 | g.17387577G>A | CA379773113 | KCNJ11 | c.254C>T (p.Ala85Val) c.515C>T (p.Ala172Val) n.673C>T | ClinVar dbSNP |
| 11 | g.17387577G>C | CA379773116 | KCNJ11 | c.254C>G (p.Ala85Gly) c.515C>G (p.Ala172Gly) n.673C>G | |
| 11 | g.17387577G= | CA1955119318 | KCNJ11 | c.254C= (p.Ala85=) c.515C= (p.Ala172=) n.673C= | |
| 11 | g.17387577G>T | CA379773118 | KCNJ11 | c.254C>A (p.Ala85Asp) c.515C>A (p.Ala172Asp) n.673C>A | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387578C>A | CA379773121 | KCNJ11 | c.253G>T (p.Ala85Ser) c.514G>T (p.Ala172Ser) n.672G>T | gnomAD v4 |
| 11 | g.17387578C>G | CA379773123 | KCNJ11 | c.253G>C (p.Ala85Pro) c.514G>C (p.Ala172Pro) n.672G>C | |
| 11 | g.17387578C>T | CA379773126 | KCNJ11 | c.253G>A (p.Ala85Thr) c.514G>A (p.Ala172Thr) n.672G>A | |
| 11 | g.17387579A>C | CA473515510 | KCNJ11 | c.252T>G (p.Thr84=) c.513T>G (p.Thr171=) n.671T>G | |
| 11 | g.17387579A>G | CA473515511 | KCNJ11 | c.252T>C (p.Thr84=) c.513T>C (p.Thr171=) n.671T>C | gnomAD v4 |
| 11 | g.17387579A>T | CA473515512 | KCNJ11 | c.252T>A (p.Thr84=) c.513T>A (p.Thr171=) n.671T>A | |
| 11 | g.17387580G>A | CA379773131 | KCNJ11 | c.251C>T (p.Thr84Ile) c.512C>T (p.Thr171Ile) n.670C>T | |
| 11 | g.17387580G>C | CA379773132 | KCNJ11 | c.251C>G (p.Thr84Ser) c.512C>G (p.Thr171Ser) n.670C>G | |
| 11 | g.17387580G>T | CA379773133 | KCNJ11 | c.251C>A (p.Thr84Asn) c.512C>A (p.Thr171Asn) n.670C>A | |
| 11 | g.17387581T>A | CA379773134 | KCNJ11 | c.250A>T (p.Thr84Ser) c.511A>T (p.Thr171Ser) n.669A>T | |
| 11 | g.17387581T>C | CA379773137 | KCNJ11 | c.250A>G (p.Thr84Ala) c.511A>G (p.Thr171Ala) n.669A>G | |
| 11 | g.17387581T>G | CA379773136 | KCNJ11 | c.250A>C (p.Thr84Pro) c.511A>C (p.Thr171Pro) n.669A>C | |
| 11 | g.17387582C>A | CA379773142 | KCNJ11 | c.249G>T (p.Lys83Asn) c.510G>T (p.Lys170Asn) n.668G>T | |
| 11 | g.17387582C= | CA1955119319 | KCNJ11 | c.249G= (p.Lys83=) c.510G= (p.Lys170=) n.668G= | |
| 11 | g.17387582C>G | CA340807 | KCNJ11 | c.249G>C (p.Lys83Asn) c.510G>C (p.Lys170Asn) n.668G>C | ClinVar dbSNP |
| 11 | g.17387582C>T | CA473515513 | KCNJ11 | c.249G>A (p.Lys83=) c.510G>A (p.Lys170=) n.668G>A | |
| 11 | g.17387583T>A | CA379773151 | KCNJ11 | c.248A>T (p.Lys83Met) c.509A>T (p.Lys170Met) n.667A>T | |
| 11 | g.17387583T>C | CA340805 | KCNJ11 | c.248A>G (p.Lys83Arg) c.509A>G (p.Lys170Arg) n.667A>G | ClinVar dbSNP |
| 11 | g.17387583T>G | CA379773156 | KCNJ11 | c.248A>C (p.Lys83Thr) c.509A>C (p.Lys170Thr) n.667A>C | |
| 11 | g.17387583T= | CA1955119320 | KCNJ11 | c.248A= (p.Lys83=) c.509A= (p.Lys170=) n.667A= | |
| 11 | g.17387584T>A | CA379773160 | KCNJ11 | c.247A>T (p.Lys83Ter) c.508A>T (p.Lys170Ter) n.666A>T | |
| 11 | g.17387584T>C | CA379773161 | KCNJ11 | c.247A>G (p.Lys83Glu) c.508A>G (p.Lys170Glu) n.666A>G | dbSNP gnomAD v2 gnomAD v4 |
| 11 | g.17387584T>G | CA379773162 | KCNJ11 | c.247A>C (p.Lys83Gln) c.508A>C (p.Lys170Gln) n.666A>C | |
| 11 | g.17387584T= | CA1955119321 | KCNJ11 | c.247A= (p.Lys83=) c.508A= (p.Lys170=) n.666A= | |
| 11 | g.17387585C>A | CA379773163 | KCNJ11 | c.246G>T (p.Met82Ile) c.507G>T (p.Met169Ile) n.665G>T | |
| 11 | g.17387585C>G | CA379773164 | KCNJ11 | c.246G>C (p.Met82Ile) c.507G>C (p.Met169Ile) n.665G>C | |
| 11 | g.17387585C>T | CA379773165 | KCNJ11 | c.246G>A (p.Met82Ile) c.507G>A (p.Met169Ile) n.665G>A | |
| 11 | g.17387586A>C | CA379773171 | KCNJ11 | c.245T>G (p.Met82Arg) c.506T>G (p.Met169Arg) n.664T>G | |
| 11 | g.17387586A>G | CA379773168 | KCNJ11 | c.245T>C (p.Met82Thr) c.506T>C (p.Met169Thr) n.664T>C | |
| 11 | g.17387586A>T | CA379773167 | KCNJ11 | c.245T>A (p.Met82Lys) c.506T>A (p.Met169Lys) n.664T>A | |
| 11 | g.17387587T>A | CA379773174 | KCNJ11 | c.244A>T (p.Met82Leu) c.505A>T (p.Met169Leu) n.663A>T | |
| 11 | g.17387587T>C | CA379773182 | KCNJ11 | c.244A>G (p.Met82Val) c.505A>G (p.Met169Val) n.663A>G | gnomAD v4 |
| 11 | g.17387587T>G | CA379773183 | KCNJ11 | c.244A>C (p.Met82Leu) c.505A>C (p.Met169Leu) n.663A>C | |
| 11 | g.17387588G>A | CA473515514 | KCNJ11 | c.243C>T (p.Phe81=) c.504C>T (p.Phe168=) n.662C>T | |
| 11 | g.17387588G>C | CA379773184 | KCNJ11 | c.243C>G (p.Phe81Leu) c.504C>G (p.Phe168Leu) n.662C>G | |
| 11 | g.17387588G>T | CA379773185 | KCNJ11 | c.243C>A (p.Phe81Leu) c.504C>A (p.Phe168Leu) n.662C>A | |
| 11 | g.17387589A>C | CA379773190 | KCNJ11 | c.242T>G (p.Phe81Cys) c.503T>G (p.Phe168Cys) n.661T>G | |
| 11 | g.17387589A>G | CA379773192 | KCNJ11 | c.242T>C (p.Phe81Ser) c.503T>C (p.Phe168Ser) n.661T>C | |
| 11 | g.17387589A>T | CA379773194 | KCNJ11 | c.242T>A (p.Phe81Tyr) c.503T>A (p.Phe168Tyr) n.661T>A | |
| 11 | g.17387590A>C | CA379773198 | KCNJ11 | c.241T>G (p.Phe81Val) c.502T>G (p.Phe168Val) n.660T>G | |
| 11 | g.17387590A>G | CA379773200 | KCNJ11 | c.241T>C (p.Phe81Leu) c.502T>C (p.Phe168Leu) n.660T>C | |
| 11 | g.17387590A>T | CA379773202 | KCNJ11 | c.241T>A (p.Phe81Ile) c.502T>A (p.Phe168Ile) n.660T>A | |
| 11 | g.17387591G>A | CA473515515 | KCNJ11 | c.240C>T (p.Ile80=) c.501C>T (p.Ile167=) n.659C>T | |
| 11 | g.17387591G>C | CA379773205 | KCNJ11 | c.240C>G (p.Ile80Met) c.501C>G (p.Ile167Met) n.659C>G | COSMIC |
| 11 | g.17387591G>T | CA473515516 | KCNJ11 | c.240C>A (p.Ile80=) c.501C>A (p.Ile167=) n.659C>A |