Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
17 | g.70170730_70175461del | CA1139665860 | KCNJ2 | c.-217+1029_422del c.-217+1873_422del | ClinVar |
17 | g.70175358G>A | CA400860341 | KCNJ2 | c.319G>A (p.Ala107Thr) | |
17 | g.70175358G>C | CA400860340 | KCNJ2 | c.319G>C (p.Ala107Pro) | |
17 | g.70175358G>T | CA400860339 | KCNJ2 | c.319G>T (p.Ala107Ser) | |
17 | g.70175359C>A | CA400860342 | KCNJ2 | c.320C>A (p.Ala107Asp) | |
17 | g.70175359C>G | CA400860343 | KCNJ2 | c.320C>G (p.Ala107Gly) | |
17 | g.70175359C>T | CA400860344 | KCNJ2 | c.320C>T (p.Ala107Val) | |
17 | g.70175360T>A | CA501700414 | KCNJ2 | c.321T>A (p.Ala107=) | |
17 | g.70175360T>C | CA501700415 | KCNJ2 | c.321T>C (p.Ala107=) | ClinVar dbSNP |
17 | g.70175360T>G | CA501700417 | KCNJ2 | c.321T>G (p.Ala107=) | |
17 | g.70175360T= | CA2272996536 | KCNJ2 | c.321T= (p.Ala107=) | |
17 | g.70175361C>A | CA400860345 | KCNJ2 | c.322C>A (p.Leu108Met) | |
17 | g.70175361C= | CA2272996537 | KCNJ2 | c.322C= (p.Leu108=) | |
17 | g.70175361C>G | CA400860346 | KCNJ2 | c.322C>G (p.Leu108Val) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175361C>T | CA293702912 | KCNJ2 | c.322C>T (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175362T>A | CA400860347 | KCNJ2 | c.323T>A (p.Leu108Gln) | |
17 | g.70175362T>C | CA400860348 | KCNJ2 | c.323T>C (p.Leu108Pro) | |
17 | g.70175362T>G | CA400860349 | KCNJ2 | c.323T>G (p.Leu108Arg) | |
17 | g.70175363G>A | CA293702913 | KCNJ2 | c.324G>A (p.Leu108=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175363G>C | CA501700423 | KCNJ2 | c.324G>C (p.Leu108=) | |
17 | g.70175363G= | CA2272996538 | KCNJ2 | c.324G= (p.Leu108=) | |
17 | g.70175363G>T | CA501700424 | KCNJ2 | c.324G>T (p.Leu108=) | |
17 | g.70175364C>A | CA400860350 | KCNJ2 | c.325C>A (p.Leu109Ile) | |
17 | g.70175364C= | CA2272996539 | KCNJ2 | c.325C= (p.Leu109=) | |
17 | g.70175364C>G | CA400860351 | KCNJ2 | c.325C>G (p.Leu109Val) | |
17 | g.70175364C>T | CA400860352 | KCNJ2 | c.325C>T (p.Leu109Phe) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175365T>A | CA400860355 | KCNJ2 | c.326T>A (p.Leu109His) | ClinVar |
17 | g.70175365T>C | CA400860354 | KCNJ2 | c.326T>C (p.Leu109Pro) | ClinVar dbSNP |
17 | g.70175365T>G | CA400860353 | KCNJ2 | c.326T>G (p.Leu109Arg) | |
17 | g.70175365T= | CA2272996540 | KCNJ2 | c.326T= (p.Leu109=) | |
17 | g.70175366C>A | CA501700426 | KCNJ2 | c.327C>A (p.Leu109=) | |
17 | g.70175366C= | CA2272996541 | KCNJ2 | c.327C= (p.Leu109=) | |
17 | g.70175366C>G | CA501700427 | KCNJ2 | c.327C>G (p.Leu109=) | gnomAD v4 |
17 | g.70175366C>T | CA8738716 | KCNJ2 | c.327C>T (p.Leu109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175367C>A | CA400860357 | KCNJ2 | c.328C>A (p.His110Asn) | |
17 | g.70175367C= | CA2272996542 | KCNJ2 | c.328C= (p.His110=) | |
17 | g.70175367C>G | CA400860356 | KCNJ2 | c.328C>G (p.His110Asp) | |
17 | g.70175367C>T | CA302032 | KCNJ2 | c.328C>T (p.His110Tyr) | ClinVar dbSNP |
17 | g.70175368A= | CA2272996543 | KCNJ2 | c.329A= (p.His110=) | |
17 | g.70175368A>C | CA400860358 | KCNJ2 | c.329A>C (p.His110Pro) | |
17 | g.70175368A>G | CA8738717 | KCNJ2 | c.329A>G (p.His110Arg) | dbSNP ExAC gnomAD v2 |
17 | g.70175368A>T | CA400860359 | KCNJ2 | c.329A>T (p.His110Leu) | |
17 | g.70175369T>A | CA400860360 | KCNJ2 | c.330T>A (p.His110Gln) | |
17 | g.70175369T>C | CA501700434 | KCNJ2 | c.330T>C (p.His110=) | |
17 | g.70175369T>G | CA400860361 | KCNJ2 | c.330T>G (p.His110Gln) | |
17 | g.70175370G>A | CA400860362 | KCNJ2 | c.331G>A (p.Gly111Arg) | |
17 | g.70175370G>C | CA400860363 | KCNJ2 | c.331G>C (p.Gly111Arg) | |
17 | g.70175370G>T | CA400860364 | KCNJ2 | c.331G>T (p.Gly111Trp) | |
17 | g.70175371G>A | CA400860365 | KCNJ2 | c.332G>A (p.Gly111Glu) | |
17 | g.70175371G>C | CA400860366 | KCNJ2 | c.332G>C (p.Gly111Ala) | |
17 | g.70175371G>T | CA400860367 | KCNJ2 | c.332G>T (p.Gly111Val) | COSMIC |
17 | g.70175372G>A | CA501700438 | KCNJ2 | c.333G>A (p.Gly111=) | ClinVar dbSNP |
17 | g.70175372G>C | CA501700439 | KCNJ2 | c.333G>C (p.Gly111=) | |
17 | g.70175372G>T | CA501700440 | KCNJ2 | c.333G>T (p.Gly111=) | |
17 | g.70175373G>A | CA400860370 | KCNJ2 | c.334G>A (p.Asp112Asn) | |
17 | g.70175373G>C | CA400860368 | KCNJ2 | c.334G>C (p.Asp112His) | |
17 | g.70175373G>T | CA400860369 | KCNJ2 | c.334G>T (p.Asp112Tyr) | ClinVar |
17 | g.70175374A>C | CA400860371 | KCNJ2 | c.335A>C (p.Asp112Ala) | |
17 | g.70175374A>G | CA400860372 | KCNJ2 | c.335A>G (p.Asp112Gly) | |
17 | g.70175374A>T | CA400860373 | KCNJ2 | c.335A>T (p.Asp112Val) | |
17 | g.70175375C>A | CA400860374 | KCNJ2 | c.336C>A (p.Asp112Glu) | |
17 | g.70175375C>G | CA400860375 | KCNJ2 | c.336C>G (p.Asp112Glu) | |
17 | g.70175375C>T | CA501700447 | KCNJ2 | c.336C>T (p.Asp112=) | gnomAD v4 |
17 | g.70175376C>A | CA400860376 | KCNJ2 | c.337C>A (p.Leu113Met) | |
17 | g.70175376C>G | CA400860377 | KCNJ2 | c.337C>G (p.Leu113Val) | |
17 | g.70175376C>T | CA501700448 | KCNJ2 | c.337C>T (p.Leu113=) | gnomAD v4 |
17 | g.70175377T>A | CA400860378 | KCNJ2 | c.338T>A (p.Leu113Gln) | |
17 | g.70175377T>C | CA400860379 | KCNJ2 | c.338T>C (p.Leu113Pro) | |
17 | g.70175377T>G | CA400860380 | KCNJ2 | c.338T>G (p.Leu113Arg) | |
17 | g.70175378G>A | CA8738718 | KCNJ2 | c.339G>A (p.Leu113=) | dbSNP ExAC |
17 | g.70175378G>C | CA501700452 | KCNJ2 | c.339G>C (p.Leu113=) | |
17 | g.70175378G= | CA2272996544 | KCNJ2 | c.339G= (p.Leu113=) | |
17 | g.70175378G>T | CA501700453 | KCNJ2 | c.339G>T (p.Leu113=) | |
17 | g.70175379G>A | CA400860382 | KCNJ2 | c.340G>A (p.Asp114Asn) | |
17 | g.70175379G>C | CA400860383 | KCNJ2 | c.340G>C (p.Asp114His) | |
17 | g.70175379G>T | CA400860381 | KCNJ2 | c.340G>T (p.Asp114Tyr) | |
17 | g.70175380A= | CA2272996545 | KCNJ2 | c.341A= (p.Asp114=) | |
17 | g.70175380A>C | CA400860384 | KCNJ2 | c.341A>C (p.Asp114Ala) | |
17 | g.70175380A>G | CA400860385 | KCNJ2 | c.341A>G (p.Asp114Gly) | ClinVar dbSNP gnomAD v4 |
17 | g.70175380A>T | CA400860386 | KCNJ2 | c.341A>T (p.Asp114Val) | gnomAD v4 |
17 | g.70175381del | CA2525407177 | KCNJ2 | c.342del (p.Asp114GlufsTer30) | |
17 | g.70175381T>A | CA400860387 | KCNJ2 | c.342T>A (p.Asp114Glu) | |
17 | g.70175381T>C | CA501700456 | KCNJ2 | c.342T>C (p.Asp114=) | |
17 | g.70175381T>G | CA400860388 | KCNJ2 | c.342T>G (p.Asp114Glu) | |
17 | g.70175382G>A | CA400860389 | KCNJ2 | c.343G>A (p.Ala115Thr) | |
17 | g.70175382G>C | CA400860390 | KCNJ2 | c.343G>C (p.Ala115Pro) | |
17 | g.70175382G>T | CA400860391 | KCNJ2 | c.343G>T (p.Ala115Ser) | |
17 | g.70175383del | CA2539244539 | KCNJ2 | c.344del (p.Ala115AspfsTer29) | |
17 | g.70175383C>A | CA400860392 | KCNJ2 | c.344C>A (p.Ala115Glu) | |
17 | g.70175383C= | CA2272996546 | KCNJ2 | c.344C= (p.Ala115=) | |
17 | g.70175383C>G | CA400860393 | KCNJ2 | c.344C>G (p.Ala115Gly) | |
17 | g.70175383C>T | CA10650783 | KCNJ2 | c.344C>T (p.Ala115Val) | ClinVar dbSNP gnomAD v4 |
17 | g.70175384A>C | CA501700460 | KCNJ2 | c.345A>C (p.Ala115=) | |
17 | g.70175384A>G | CA501700461 | KCNJ2 | c.345A>G (p.Ala115=) | gnomAD v4 |
17 | g.70175384A>T | CA501700463 | KCNJ2 | c.345A>T (p.Ala115=) | |
17 | g.70175385T>A | CA400860395 | KCNJ2 | c.346T>A (p.Ser116Thr) | |
17 | g.70175385T>C | CA400860396 | KCNJ2 | c.346T>C (p.Ser116Pro) | ClinVar dbSNP |
17 | g.70175385T>G | CA400860394 | KCNJ2 | c.346T>G (p.Ser116Ala) | |
17 | g.70175386C>A | CA400860397 | KCNJ2 | c.347C>A (p.Ser116Tyr) | |
17 | g.70175386C>G | CA400860398 | KCNJ2 | c.347C>G (p.Ser116Cys) | |
17 | g.70175386C>T | CA400860399 | KCNJ2 | c.347C>T (p.Ser116Phe) | |
17 | g.70175387C>A | CA501700468 | KCNJ2 | c.348C>A (p.Ser116=) | |
17 | g.70175387C>G | CA501700467 | KCNJ2 | c.348C>G (p.Ser116=) | |
17 | g.70175387C>T | CA501700466 | KCNJ2 | c.348C>T (p.Ser116=) | |
17 | g.70175388A>C | CA400860400 | KCNJ2 | c.349A>C (p.Lys117Gln) | |
17 | g.70175388A>G | CA400860401 | KCNJ2 | c.349A>G (p.Lys117Glu) | |
17 | g.70175388A>T | CA400860402 | KCNJ2 | c.349A>T (p.Lys117Ter) | |
17 | g.70175390del | CA2555414749 | KCNJ2 | c.351del (p.Glu118ArgfsTer26) | |
17 | g.70175389A>C | CA400860403 | KCNJ2 | c.350A>C (p.Lys117Thr) | |
17 | g.70175389A>G | CA400860405 | KCNJ2 | c.350A>G (p.Lys117Arg) | |
17 | g.70175389A>T | CA400860404 | KCNJ2 | c.350A>T (p.Lys117Ile) | |
17 | g.70175390A>C | CA400860406 | KCNJ2 | c.351A>C (p.Lys117Asn) | |
17 | g.70175390A>G | CA501700473 | KCNJ2 | c.351A>G (p.Lys117=) | |
17 | g.70175390A>T | CA400860407 | KCNJ2 | c.351A>T (p.Lys117Asn) | |
17 | g.70175390_70175394del | CA2501509048 | KCNJ2 | c.351_355del (p.Glu118GlnfsTer19) | |
17 | g.70175391G>A | CA400860408 | KCNJ2 | c.352G>A (p.Glu118Lys) | gnomAD v4 |
17 | g.70175391G>C | CA400860409 | KCNJ2 | c.352G>C (p.Glu118Gln) | |
17 | g.70175391G>T | CA400860410 | KCNJ2 | c.352G>T (p.Glu118Ter) | COSMIC |
17 | g.70175392A>C | CA400860412 | KCNJ2 | c.353A>C (p.Glu118Ala) | |
17 | g.70175392A>G | CA400860413 | KCNJ2 | c.353A>G (p.Glu118Gly) | |
17 | g.70175392A>T | CA400860411 | KCNJ2 | c.353A>T (p.Glu118Val) | |
17 | g.70175393G>A | CA501700480 | KCNJ2 | c.354G>A (p.Glu118=) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175393G>C | CA8738719 | KCNJ2 | c.354G>C (p.Glu118Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175393G= | CA2272996547 | KCNJ2 | c.354G= (p.Glu118=) | |
17 | g.70175393G>T | CA400860414 | KCNJ2 | c.354G>T (p.Glu118Asp) | |
17 | g.70175393_70175396del | CA2500676983 | KCNJ2 | c.354_357del (p.Gly119LysfsTer24) | |
17 | g.70175394G>A | CA400860415 | KCNJ2 | c.355G>A (p.Gly119Ser) | |
17 | g.70175394G>C | CA400860416 | KCNJ2 | c.355G>C (p.Gly119Arg) | |
17 | g.70175394G>T | CA400860417 | KCNJ2 | c.355G>T (p.Gly119Cys) | |
17 | g.70175395G>A | CA400860418 | KCNJ2 | c.356G>A (p.Gly119Asp) | |
17 | g.70175395G>C | CA400860419 | KCNJ2 | c.356G>C (p.Gly119Ala) | |
17 | g.70175395G= | CA2272996548 | KCNJ2 | c.356G= (p.Gly119=) | |
17 | g.70175395G>T | CA400860420 | KCNJ2 | c.356G>T (p.Gly119Val) | dbSNP gnomAD v4 |
17 | g.70175395_70175396insAAAATAA | CA2518234900 | KCNJ2 | c.356_357insAAAATAA (p.Ala121Ter) | |
17 | g.70175396C>A | CA501700486 | KCNJ2 | c.357C>A (p.Gly119=) | |
17 | g.70175396C>G | CA501700488 | KCNJ2 | c.357C>G (p.Gly119=) | |
17 | g.70175396C>T | CA501700489 | KCNJ2 | c.357C>T (p.Gly119=) | |
17 | g.70175397A>C | CA400860421 | KCNJ2 | c.358A>C (p.Lys120Gln) | |
17 | g.70175397A>G | CA400860422 | KCNJ2 | c.358A>G (p.Lys120Glu) | |
17 | g.70175397A>T | CA400860423 | KCNJ2 | c.358A>T (p.Lys120Ter) | |
17 | g.70175398A= | CA2272996549 | KCNJ2 | c.359A= (p.Lys120=) | |
17 | g.70175398A>C | CA8738720 | KCNJ2 | c.359A>C (p.Lys120Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175398A>G | CA400860424 | KCNJ2 | c.359A>G (p.Lys120Arg) | gnomAD v4 |
17 | g.70175398A>T | CA400860425 | KCNJ2 | c.359A>T (p.Lys120Ile) | |
17 | g.70175399_70175400insTAACAA | CA2499519222 | KCNJ2 | c.360_361insTAACAA | |
17 | g.70175399A>C | CA400860426 | KCNJ2 | c.360A>C (p.Lys120Asn) | |
17 | g.70175399A>G | CA501700491 | KCNJ2 | c.360A>G (p.Lys120=) | |
17 | g.70175399A>T | CA400860427 | KCNJ2 | c.360A>T (p.Lys120Asn) | |
17 | g.70175400G>A | CA400860428 | KCNJ2 | c.361G>A (p.Ala121Thr) | |
17 | g.70175400G>C | CA400860429 | KCNJ2 | c.361G>C (p.Ala121Pro) | |
17 | g.70175400G>T | CA400860430 | KCNJ2 | c.361G>T (p.Ala121Ser) | |
17 | g.70175401C>A | CA400860431 | KCNJ2 | c.362C>A (p.Ala121Asp) | |
17 | g.70175401C>G | CA400860432 | KCNJ2 | c.362C>G (p.Ala121Gly) | |
17 | g.70175401C>T | CA400860433 | KCNJ2 | c.362C>T (p.Ala121Val) | |
17 | g.70175401dup | CA2567199791 | KCNJ2 | c.362dup (p.Cys122LeufsTer17) | |
17 | g.70175402T>A | CA501700499 | KCNJ2 | c.363T>A (p.Ala121=) | gnomAD v4 |
17 | g.70175402T>C | CA501700498 | KCNJ2 | c.363T>C (p.Ala121=) | |
17 | g.70175402T>G | CA501700496 | KCNJ2 | c.363T>G (p.Ala121=) | |
17 | g.70175402_70175403del | CA2518498541 | KCNJ2 | c.363_364del (p.Ser124ArgfsTer14) | |
17 | g.70175403T>A | CA400860434 | KCNJ2 | c.364T>A (p.Cys122Ser) | |
17 | g.70175403T>C | CA400860435 | KCNJ2 | c.364T>C (p.Cys122Arg) | |
17 | g.70175403T>G | CA400860436 | KCNJ2 | c.364T>G (p.Cys122Gly) | |
17 | g.70175404G>A | CA400860437 | KCNJ2 | c.365G>A (p.Cys122Tyr) | ClinVar dbSNP |
17 | g.70175404G>C | CA400860438 | KCNJ2 | c.365G>C (p.Cys122Ser) | |
17 | g.70175404G= | CA2272996550 | KCNJ2 | c.365G= (p.Cys122=) | |
17 | g.70175404G>T | CA400860439 | KCNJ2 | c.365G>T (p.Cys122Phe) | |
17 | g.70175405T>A | CA400860441 | KCNJ2 | c.366T>A (p.Cys122Ter) | |
17 | g.70175405T>C | CA8738721 | KCNJ2 | c.366T>C (p.Cys122=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175405T>G | CA400860440 | KCNJ2 | c.366T>G (p.Cys122Trp) | |
17 | g.70175405T= | CA2272996551 | KCNJ2 | c.366T= (p.Cys122=) | |
17 | g.70175406G>A | CA400860442 | KCNJ2 | c.367G>A (p.Val123Met) | |
17 | g.70175406G>C | CA400860443 | KCNJ2 | c.367G>C (p.Val123Leu) | |
17 | g.70175406G>T | CA400860444 | KCNJ2 | c.367G>T (p.Val123Leu) | |
17 | g.70175407T>A | CA400860445 | KCNJ2 | c.368T>A (p.Val123Glu) | |
17 | g.70175407T>C | CA400860446 | KCNJ2 | c.368T>C (p.Val123Ala) | |
17 | g.70175407T>G | CA329660 | KCNJ2 | c.368T>G (p.Val123Gly) | ClinVar dbSNP |
17 | g.70175407T= | CA2272996552 | KCNJ2 | c.368T= (p.Val123=) | |
17 | g.70175408G>A | CA501700508 | KCNJ2 | c.369G>A (p.Val123=) | |
17 | g.70175408G>C | CA501700513 | KCNJ2 | c.369G>C (p.Val123=) | |
17 | g.70175408G>T | CA501700512 | KCNJ2 | c.369G>T (p.Val123=) | |
17 | g.70175409T>A | CA400860447 | KCNJ2 | c.370T>A (p.Ser124Thr) | |
17 | g.70175409T>C | CA400860448 | KCNJ2 | c.370T>C (p.Ser124Pro) | |
17 | g.70175409T>G | CA400860449 | KCNJ2 | c.370T>G (p.Ser124Ala) | |
17 | g.70175410C>A | CA400860450 | KCNJ2 | c.371C>A (p.Ser124Tyr) | |
17 | g.70175410C>G | CA400860451 | KCNJ2 | c.371C>G (p.Ser124Cys) | ClinVar dbSNP |
17 | g.70175410C>T | CA400860452 | KCNJ2 | c.371C>T (p.Ser124Phe) | |
17 | g.70175410_70175411insT | CA2525009054 | KCNJ2 | c.371_372insT (p.Glu125ArgfsTer14) | |
17 | g.70175411C>A | CA501700517 | KCNJ2 | c.372C>A (p.Ser124=) | |
17 | g.70175411C= | CA2272996553 | KCNJ2 | c.372C= (p.Ser124=) | |
17 | g.70175411C>G | CA501700521 | KCNJ2 | c.372C>G (p.Ser124=) | |
17 | g.70175411C>T | CA291733 | KCNJ2 | c.372C>T (p.Ser124=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
17 | g.70175412G>A | CA400860455 | KCNJ2 | c.373G>A (p.Glu125Lys) | ClinVar dbSNP gnomAD v4 |
17 | g.70175412G>C | CA400860454 | KCNJ2 | c.373G>C (p.Glu125Gln) | |
17 | g.70175412G= | CA2272996554 | KCNJ2 | c.373G= (p.Glu125=) | |
17 | g.70175412G>T | CA400860453 | KCNJ2 | c.373G>T (p.Glu125Ter) | |
17 | g.70175412_70175413insC | CA2569970912 | KCNJ2 | c.373_374insC (p.Glu125AlafsTer14) | |
17 | g.70175413A>C | CA400860456 | KCNJ2 | c.374A>C (p.Glu125Ala) | |
17 | g.70175413A>G | CA400860457 | KCNJ2 | c.374A>G (p.Glu125Gly) | |
17 | g.70175413A>T | CA400860458 | KCNJ2 | c.374A>T (p.Glu125Val) | |
17 | g.70175414G>A | CA501700525 | KCNJ2 | c.375G>A (p.Glu125=) | |
17 | g.70175414G>C | CA400860459 | KCNJ2 | c.375G>C (p.Glu125Asp) | |
17 | g.70175414G>T | CA400860460 | KCNJ2 | c.375G>T (p.Glu125Asp) | |
17 | g.70175415G>A | CA400860461 | KCNJ2 | c.376G>A (p.Val126Ile) | |
17 | g.70175415G>C | CA400860462 | KCNJ2 | c.376G>C (p.Val126Leu) | |
17 | g.70175415G>T | CA400860463 | KCNJ2 | c.376G>T (p.Val126Phe) | |
17 | g.70175416T>A | CA400860464 | KCNJ2 | c.377T>A (p.Val126Asp) | |
17 | g.70175416T>C | CA400860465 | KCNJ2 | c.377T>C (p.Val126Ala) | |
17 | g.70175416T>G | CA400860466 | KCNJ2 | c.377T>G (p.Val126Gly) | |
17 | g.70175417C>A | CA501700529 | KCNJ2 | c.378C>A (p.Val126=) | gnomAD v4 |
17 | g.70175417C>G | CA501700530 | KCNJ2 | c.378C>G (p.Val126=) | |
17 | g.70175417C>T | CA501700532 | KCNJ2 | c.378C>T (p.Val126=) | |
17 | g.70175418A>C | CA400860467 | KCNJ2 | c.379A>C (p.Asn127His) | |
17 | g.70175418A>G | CA400860468 | KCNJ2 | c.379A>G (p.Asn127Asp) | gnomAD v4 |
17 | g.70175418A>T | CA400860469 | KCNJ2 | c.379A>T (p.Asn127Tyr) | |
17 | g.70175419A>C | CA400860471 | KCNJ2 | c.380A>C (p.Asn127Thr) | |
17 | g.70175419A>G | CA400860472 | KCNJ2 | c.380A>G (p.Asn127Ser) | |
17 | g.70175419A>T | CA400860470 | KCNJ2 | c.380A>T (p.Asn127Ile) | |
17 | g.70175420C>A | CA400860473 | KCNJ2 | c.381C>A (p.Asn127Lys) | |
17 | g.70175420C>G | CA400860474 | KCNJ2 | c.381C>G (p.Asn127Lys) | |
17 | g.70175420C>T | CA501700536 | KCNJ2 | c.381C>T (p.Asn127=) | |
17 | g.70175421A>C | CA400860475 | KCNJ2 | c.382A>C (p.Ser128Arg) | |
17 | g.70175421A>G | CA400860476 | KCNJ2 | c.382A>G (p.Ser128Gly) | |
17 | g.70175421A>T | CA400860477 | KCNJ2 | c.382A>T (p.Ser128Cys) | |
17 | g.70175422G>A | CA400860478 | KCNJ2 | c.383G>A (p.Ser128Asn) | |
17 | g.70175422G>C | CA400860479 | KCNJ2 | c.383G>C (p.Ser128Thr) | dbSNP gnomAD v3 gnomAD v4 |
17 | g.70175422G= | CA2272996555 | KCNJ2 | c.383G= (p.Ser128=) | |
17 | g.70175422G>T | CA400860480 | KCNJ2 | c.383G>T (p.Ser128Ile) | |
17 | g.70175423C>A | CA400860481 | KCNJ2 | c.384C>A (p.Ser128Arg) | |
17 | g.70175423C>G | CA400860482 | KCNJ2 | c.384C>G (p.Ser128Arg) | |
17 | g.70175423C>T | CA501700537 | KCNJ2 | c.384C>T (p.Ser128=) | gnomAD v4 |
17 | g.70175424T>A | CA400860483 | KCNJ2 | c.385T>A (p.Phe129Ile) | |
17 | g.70175424T>C | CA400860484 | KCNJ2 | c.385T>C (p.Phe129Leu) | |
17 | g.70175424T>G | CA400860485 | KCNJ2 | c.385T>G (p.Phe129Val) | |
17 | g.70175425T>A | CA400860488 | KCNJ2 | c.386T>A (p.Phe129Tyr) | |
17 | g.70175425T>C | CA400860487 | KCNJ2 | c.386T>C (p.Phe129Ser) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175425T>G | CA400860486 | KCNJ2 | c.386T>G (p.Phe129Cys) | gnomAD v4 |
17 | g.70175425T= | CA2272996556 | KCNJ2 | c.386T= (p.Phe129=) | |
17 | g.70175426C>A | CA400860489 | KCNJ2 | c.387C>A (p.Phe129Leu) | |
17 | g.70175426C= | CA2272996557 | KCNJ2 | c.387C= (p.Phe129=) | |
17 | g.70175426C>G | CA400860490 | KCNJ2 | c.387C>G (p.Phe129Leu) | |
17 | g.70175426C>T | CA501700542 | KCNJ2 | c.387C>T (p.Phe129=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175427A= | CA2272996558 | KCNJ2 | c.388A= (p.Thr130=) | |
17 | g.70175427A>C | CA400860491 | KCNJ2 | c.388A>C (p.Thr130Pro) | |
17 | g.70175427A>G | CA400860492 | KCNJ2 | c.388A>G (p.Thr130Ala) | ClinVar dbSNP |
17 | g.70175427A>T | CA400860493 | KCNJ2 | c.388A>T (p.Thr130Ser) | |
17 | g.70175428C>A | CA400860494 | KCNJ2 | c.389C>A (p.Thr130Lys) | |
17 | g.70175428C= | CA2272996559 | KCNJ2 | c.389C= (p.Thr130=) | |
17 | g.70175428C>G | CA400860495 | KCNJ2 | c.389C>G (p.Thr130Arg) | |
17 | g.70175428C>T | CA8738722 | KCNJ2 | c.389C>T (p.Thr130Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175429G>A | CA8738723 | KCNJ2 | c.390G>A (p.Thr130=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175429G>C | CA501700551 | KCNJ2 | c.390G>C (p.Thr130=) | |
17 | g.70175429G= | CA2272996560 | KCNJ2 | c.390G= (p.Thr130=) | |
17 | g.70175429G>T | CA501700552 | KCNJ2 | c.390G>T (p.Thr130=) | |
17 | g.70175430G>A | CA400860496 | KCNJ2 | c.391G>A (p.Ala131Thr) | COSMIC |
17 | g.70175430G>C | CA400860497 | KCNJ2 | c.391G>C (p.Ala131Pro) | |
17 | g.70175430G>T | CA400860498 | KCNJ2 | c.391G>T (p.Ala131Ser) | |
17 | g.70175431C>A | CA400860499 | KCNJ2 | c.392C>A (p.Ala131Asp) | |
17 | g.70175431C>G | CA400860500 | KCNJ2 | c.392C>G (p.Ala131Gly) | |
17 | g.70175431C>T | CA400860501 | KCNJ2 | c.392C>T (p.Ala131Val) | |
17 | g.70175432T>A | CA501700558 | KCNJ2 | c.393T>A (p.Ala131=) | |
17 | g.70175432T>C | CA293702914 | KCNJ2 | c.393T>C (p.Ala131=) | dbSNP gnomAD v4 |
17 | g.70175432T>G | CA501700559 | KCNJ2 | c.393T>G (p.Ala131=) | |
17 | g.70175432T= | CA2272996561 | KCNJ2 | c.393T= (p.Ala131=) | |
17 | g.70175433G>A | CA400860502 | KCNJ2 | c.394G>A (p.Ala132Thr) | ClinVar dbSNP |
17 | g.70175433G>C | CA400860503 | KCNJ2 | c.394G>C (p.Ala132Pro) | |
17 | g.70175433G= | CA2272996562 | KCNJ2 | c.394G= (p.Ala132=) | |
17 | g.70175433G>T | CA400860504 | KCNJ2 | c.394G>T (p.Ala132Ser) | |
17 | g.70175433_70175435dup | CA302076 | KCNJ2 | c.394_396dup (p.Ala132_Phe133insAla) | ClinVar dbSNP |
17 | g.70175434C>A | CA400860505 | KCNJ2 | c.395C>A (p.Ala132Asp) | |
17 | g.70175434C= | CA2272996563 | KCNJ2 | c.395C= (p.Ala132=) | |
17 | g.70175434C>G | CA400860506 | KCNJ2 | c.395C>G (p.Ala132Gly) | dbSNP gnomAD v2 |
17 | g.70175434C>T | CA400860507 | KCNJ2 | c.395C>T (p.Ala132Val) | |
17 | g.70175435C>A | CA501700564 | KCNJ2 | c.396C>A (p.Ala132=) | |
17 | g.70175435C>G | CA501700566 | KCNJ2 | c.396C>G (p.Ala132=) | |
17 | g.70175435C>T | CA501700565 | KCNJ2 | c.396C>T (p.Ala132=) | |
17 | g.70175436T>A | CA400860508 | KCNJ2 | c.397T>A (p.Phe133Ile) | |
17 | g.70175436T>C | CA400860509 | KCNJ2 | c.397T>C (p.Phe133Leu) | |
17 | g.70175436T>G | CA400860510 | KCNJ2 | c.397T>G (p.Phe133Val) | |
17 | g.70175437T>A | CA400860513 | KCNJ2 | c.398T>A (p.Phe133Tyr) | |
17 | g.70175437T>C | CA400860511 | KCNJ2 | c.398T>C (p.Phe133Ser) | COSMIC |
17 | g.70175437T>G | CA400860512 | KCNJ2 | c.398T>G (p.Phe133Cys) | |
17 | g.70175438C>A | CA400860514 | KCNJ2 | c.399C>A (p.Phe133Leu) | |
17 | g.70175438C>G | CA400860515 | KCNJ2 | c.399C>G (p.Phe133Leu) | |
17 | g.70175438C>T | CA501700570 | KCNJ2 | c.399C>T (p.Phe133=) | gnomAD v4 |
17 | g.70175439C>A | CA400860516 | KCNJ2 | c.400C>A (p.Leu134Ile) | dbSNP gnomAD v2 gnomAD v4 |
17 | g.70175439C= | CA2272996564 | KCNJ2 | c.400C= (p.Leu134=) | |
17 | g.70175439C>G | CA400860517 | KCNJ2 | c.400C>G (p.Leu134Val) | gnomAD v4 |
17 | g.70175439C>T | CA400860518 | KCNJ2 | c.400C>T (p.Leu134Phe) | |
17 | g.70175440T>A | CA400860519 | KCNJ2 | c.401T>A (p.Leu134His) | |
17 | g.70175440T>C | CA400860521 | KCNJ2 | c.401T>C (p.Leu134Pro) | |
17 | g.70175440T>G | CA400860520 | KCNJ2 | c.401T>G (p.Leu134Arg) | |
17 | g.70175441C>A | CA501700572 | KCNJ2 | c.402C>A (p.Leu134=) | |
17 | g.70175441C>G | CA501700574 | KCNJ2 | c.402C>G (p.Leu134=) | |
17 | g.70175441C>T | CA501700575 | KCNJ2 | c.402C>T (p.Leu134=) | ClinVar gnomAD v4 |
17 | g.70175442T>A | CA400860522 | KCNJ2 | c.403T>A (p.Phe135Ile) | |
17 | g.70175442T>C | CA400860523 | KCNJ2 | c.403T>C (p.Phe135Leu) | |
17 | g.70175442T>G | CA400860524 | KCNJ2 | c.403T>G (p.Phe135Val) | |
17 | g.70175443T>A | CA400860525 | KCNJ2 | c.404T>A (p.Phe135Tyr) | |
17 | g.70175443T>C | CA400860526 | KCNJ2 | c.404T>C (p.Phe135Ser) | |
17 | g.70175443T>G | CA400860527 | KCNJ2 | c.404T>G (p.Phe135Cys) | |
17 | g.70175444C>A | CA400860528 | KCNJ2 | c.405C>A (p.Phe135Leu) | |
17 | g.70175444C>G | CA400860529 | KCNJ2 | c.405C>G (p.Phe135Leu) | |
17 | g.70175444C>T | CA501700580 | KCNJ2 | c.405C>T (p.Phe135=) | gnomAD v4 |
17 | g.70175445T>A | CA400860530 | KCNJ2 | c.406T>A (p.Ser136Thr) | |
17 | g.70175445T>C | CA400860531 | KCNJ2 | c.406T>C (p.Ser136Pro) | |
17 | g.70175445T>G | CA400860532 | KCNJ2 | c.406T>G (p.Ser136Ala) | |
17 | g.70175446C>A | CA400860533 | KCNJ2 | c.407C>A (p.Ser136Tyr) | |
17 | g.70175446C= | CA2272996565 | KCNJ2 | c.407C= (p.Ser136=) | |
17 | g.70175446C>G | CA400860534 | KCNJ2 | c.407C>G (p.Ser136Cys) | |
17 | g.70175446C>T | CA329663 | KCNJ2 | c.407C>T (p.Ser136Phe) | ClinVar dbSNP COSMIC |
17 | g.70175446_70175448delinsCCA | CA2272996566 | KCNJ2 | c.407_409delinsCCA (p.Ser136=) | |
17 | g.70175446_70175448delinsTTT | CA350368 | KCNJ2 | c.407_409delinsTTT (p.Ser136_Ile137delinsPhePhe) | ClinVar dbSNP |
17 | g.70175447C>A | CA501700587 | KCNJ2 | c.408C>A (p.Ser136=) | |
17 | g.70175447C>G | CA501700588 | KCNJ2 | c.408C>G (p.Ser136=) | |
17 | g.70175447C>T | CA501700589 | KCNJ2 | c.408C>T (p.Ser136=) | COSMIC |
17 | g.70175448A>C | CA400860537 | KCNJ2 | c.409A>C (p.Ile137Leu) | |
17 | g.70175448A>G | CA400860535 | KCNJ2 | c.409A>G (p.Ile137Val) | gnomAD v4 |
17 | g.70175448A>T | CA400860536 | KCNJ2 | c.409A>T (p.Ile137Phe) | |
17 | g.70175449T>A | CA400860538 | KCNJ2 | c.410T>A (p.Ile137Asn) | ClinVar dbSNP |
17 | g.70175449T>C | CA8738724 | KCNJ2 | c.410T>C (p.Ile137Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
17 | g.70175449T>G | CA400860539 | KCNJ2 | c.410T>G (p.Ile137Ser) | |
17 | g.70175449T= | CA2272996567 | KCNJ2 | c.410T= (p.Ile137=) | |
17 | g.70175450T>A | CA501700590 | KCNJ2 | c.411T>A (p.Ile137=) | |
17 | g.70175450T>C | CA8738725 | KCNJ2 | c.411T>C (p.Ile137=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175450T>G | CA400860540 | KCNJ2 | c.411T>G (p.Ile137Met) | |
17 | g.70175450T= | CA2272996568 | KCNJ2 | c.411T= (p.Ile137=) | |
17 | g.70175451G>A | CA400860541 | KCNJ2 | c.412G>A (p.Glu138Lys) | |
17 | g.70175451G>C | CA400860542 | KCNJ2 | c.412G>C (p.Glu138Gln) | COSMIC |
17 | g.70175451G>T | CA400860543 | KCNJ2 | c.412G>T (p.Glu138Ter) | |
17 | g.70175452A>C | CA400860544 | KCNJ2 | c.413A>C (p.Glu138Ala) | |
17 | g.70175452A>G | CA400860545 | KCNJ2 | c.413A>G (p.Glu138Gly) | |
17 | g.70175452A>T | CA400860546 | KCNJ2 | c.413A>T (p.Glu138Val) | |
17 | g.70175453G>A | CA501700597 | KCNJ2 | c.414G>A (p.Glu138=) | |
17 | g.70175453G>C | CA400860548 | KCNJ2 | c.414G>C (p.Glu138Asp) | |
17 | g.70175453G>T | CA400860547 | KCNJ2 | c.414G>T (p.Glu138Asp) | |
17 | g.70175454A>C | CA400860549 | KCNJ2 | c.415A>C (p.Thr139Pro) | |
17 | g.70175454A>G | CA400860550 | KCNJ2 | c.415A>G (p.Thr139Ala) | |
17 | g.70175454A>T | CA400860551 | KCNJ2 | c.415A>T (p.Thr139Ser) | |
17 | g.70175455C>A | CA400860552 | KCNJ2 | c.416C>A (p.Thr139Asn) | |
17 | g.70175455C= | CA2272996569 | KCNJ2 | c.416C= (p.Thr139=) | |
17 | g.70175455C>G | CA400860553 | KCNJ2 | c.416C>G (p.Thr139Ser) | |
17 | g.70175455C>T | CA16615918 | KCNJ2 | c.416C>T (p.Thr139Ile) | ClinVar dbSNP |
17 | g.70175456C>A | CA8738726 | KCNJ2 | c.417C>A (p.Thr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175456C= | CA2272996570 | KCNJ2 | c.417C= (p.Thr139=) | |
17 | g.70175456C>G | CA501700602 | KCNJ2 | c.417C>G (p.Thr139=) | |
17 | g.70175456C>T | CA8738727 | KCNJ2 | c.417C>T (p.Thr139=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
17 | g.70175457C>A | CA400860554 | KCNJ2 | c.418C>A (p.Gln140Lys) | |
17 | g.70175457C>G | CA400860555 | KCNJ2 | c.418C>G (p.Gln140Glu) | |
17 | g.70175457C>T | CA400860556 | KCNJ2 | c.418C>T (p.Gln140Ter) | |
17 | g.70175458A>C | CA400860557 | KCNJ2 | c.419A>C (p.Gln140Pro) | |
17 | g.70175458A>G | CA400860558 | KCNJ2 | c.419A>G (p.Gln140Arg) | |
17 | g.70175458A>T | CA400860559 | KCNJ2 | c.419A>T (p.Gln140Leu) |