| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41985014G>A | CA507695427 | ATP1A3 | c.936C>T (p.Leu312=) c.897C>T (p.Leu299=) n.210C>T c.930C>T (p.Leu310=) c.807C>T (p.Leu269=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985014G>C | CA507695429 | ATP1A3 | c.936C>G (p.Leu312=) c.897C>G (p.Leu299=) n.210C>G c.930C>G (p.Leu310=) c.807C>G (p.Leu269=) | |
| 19 | g.41985014G= | CA2336727999 | ATP1A3 | c.936C= (p.Leu312=) c.897C= (p.Leu299=) n.210C= c.930C= (p.Leu310=) c.807C= (p.Leu269=) | |
| 19 | g.41985014G>T | CA507695428 | ATP1A3 | c.936C>A (p.Leu312=) c.897C>A (p.Leu299=) n.210C>A c.930C>A (p.Leu310=) c.807C>A (p.Leu269=) | |
| 19 | g.41985015A>C | CA406052568 | ATP1A3 | c.935T>G (p.Leu312Arg) c.896T>G (p.Leu299Arg) n.209T>G c.929T>G (p.Leu310Arg) c.806T>G (p.Leu269Arg) | |
| 19 | g.41985015A>G | CA406052569 | ATP1A3 | c.935T>C (p.Leu312Pro) c.896T>C (p.Leu299Pro) n.209T>C c.929T>C (p.Leu310Pro) c.806T>C (p.Leu269Pro) | |
| 19 | g.41985015A>T | CA406052570 | ATP1A3 | c.935T>A (p.Leu312His) c.896T>A (p.Leu299His) n.209T>A c.929T>A (p.Leu310His) c.806T>A (p.Leu269His) | |
| 19 | g.41985016G>A | CA406052571 | ATP1A3 | c.934C>T (p.Leu312Phe) c.895C>T (p.Leu299Phe) n.208C>T c.928C>T (p.Leu310Phe) c.805C>T (p.Leu269Phe) | |
| 19 | g.41985016G>C | CA406052576 | ATP1A3 | c.934C>G (p.Leu312Val) c.895C>G (p.Leu299Val) n.208C>G c.928C>G (p.Leu310Val) c.805C>G (p.Leu269Val) | |
| 19 | g.41985016G>T | CA406052574 | ATP1A3 | c.934C>A (p.Leu312Ile) c.895C>A (p.Leu299Ile) n.208C>A c.928C>A (p.Leu310Ile) c.805C>A (p.Leu269Ile) | |
| 19 | g.41985017G>A | CA507695430 | ATP1A3 | c.933C>T (p.Ile311=) c.894C>T (p.Ile298=) n.207C>T c.927C>T (p.Ile309=) c.804C>T (p.Ile268=) | gnomAD v4 COSMIC |
| 19 | g.41985017G>C | CA406052579 | ATP1A3 | c.933C>G (p.Ile311Met) c.894C>G (p.Ile298Met) n.207C>G c.927C>G (p.Ile309Met) c.804C>G (p.Ile268Met) | gnomAD v4 |
| 19 | g.41985017G>T | CA507695431 | ATP1A3 | c.933C>A (p.Ile311=) c.894C>A (p.Ile298=) n.207C>A c.927C>A (p.Ile309=) c.804C>A (p.Ile268=) | |
| 19 | g.41985018A= | CA2336728000 | ATP1A3 | c.932T= (p.Ile311=) c.893T= (p.Ile298=) n.206T= c.926T= (p.Ile309=) c.803T= (p.Ile268=) | |
| 19 | g.41985018A>C | CA406052582 | ATP1A3 | c.932T>G (p.Ile311Ser) c.893T>G (p.Ile298Ser) n.206T>G c.926T>G (p.Ile309Ser) c.803T>G (p.Ile268Ser) | |
| 19 | g.41985018A>G | CA406052583 | ATP1A3 | c.932T>C (p.Ile311Thr) c.893T>C (p.Ile298Thr) n.206T>C c.926T>C (p.Ile309Thr) c.803T>C (p.Ile268Thr) | ClinVar dbSNP |
| 19 | g.41985018A>T | CA406052585 | ATP1A3 | c.932T>A (p.Ile311Asn) c.893T>A (p.Ile298Asn) n.206T>A c.926T>A (p.Ile309Asn) c.803T>A (p.Ile268Asn) | |
| 19 | g.41985019T>A | CA406052588 | ATP1A3 | c.931A>T (p.Ile311Phe) c.892A>T (p.Ile298Phe) n.205A>T c.925A>T (p.Ile309Phe) c.802A>T (p.Ile268Phe) | |
| 19 | g.41985019T>C | CA406052590 | ATP1A3 | c.931A>G (p.Ile311Val) c.892A>G (p.Ile298Val) n.205A>G c.925A>G (p.Ile309Val) c.802A>G (p.Ile268Val) | |
| 19 | g.41985019T>G | CA406052591 | ATP1A3 | c.931A>C (p.Ile311Leu) c.892A>C (p.Ile298Leu) n.205A>C c.925A>C (p.Ile309Leu) c.802A>C (p.Ile268Leu) | gnomAD v4 |
| 19 | g.41985019_41985022delinsTGAA | CA2336728001 | ATP1A3 | c.928_931delinsTTCA (p.Phe310=) c.889_892delinsTTCA (p.Phe297=) n.202_205delinsTTCA c.922_925delinsTTCA (p.Phe308=) c.799_802delinsTTCA (p.Phe267=) | |
| 19 | g.41985020G>A | CA308597228 | ATP1A3 | c.930C>T (p.Phe310=) c.891C>T (p.Phe297=) n.204C>T c.924C>T (p.Phe308=) c.801C>T (p.Phe267=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985020G>C | CA406052593 | ATP1A3 | c.930C>G (p.Phe310Leu) c.891C>G (p.Phe297Leu) n.204C>G c.924C>G (p.Phe308Leu) c.801C>G (p.Phe267Leu) | |
| 19 | g.41985020G= | CA2336728002 | ATP1A3 | c.930C= (p.Phe310=) c.891C= (p.Phe297=) n.204C= c.924C= (p.Phe308=) c.801C= (p.Phe267=) | |
| 19 | g.41985020G>T | CA406052597 | ATP1A3 | c.930C>A (p.Phe310Leu) c.891C>A (p.Phe297Leu) n.204C>A c.924C>A (p.Phe308Leu) c.801C>A (p.Phe267Leu) | |
| 19 | g.41985024_41985026del | CA658658818 | ATP1A3 | c.928_930del (p.Phe310del) c.889_891del (p.Phe297del) n.202_204del c.922_924del (p.Phe308del) c.799_801del (p.Phe267del) | ClinVar dbSNP |
| 19 | g.41985021A= | CA2336728003 | ATP1A3 | c.929T= (p.Phe310=) c.890T= (p.Phe297=) n.203T= c.923T= (p.Phe308=) c.800T= (p.Phe267=) | |
| 19 | g.41985021A>C | CA406052604 | ATP1A3 | c.929T>G (p.Phe310Cys) c.890T>G (p.Phe297Cys) n.203T>G c.923T>G (p.Phe308Cys) c.800T>G (p.Phe267Cys) | |
| 19 | g.41985021A>G | CA406052602 | ATP1A3 | c.929T>C (p.Phe310Ser) c.890T>C (p.Phe297Ser) n.203T>C c.923T>C (p.Phe308Ser) c.800T>C (p.Phe267Ser) | dbSNP |
| 19 | g.41985021A>T | CA406052599 | ATP1A3 | c.929T>A (p.Phe310Tyr) c.890T>A (p.Phe297Tyr) n.203T>A c.923T>A (p.Phe308Tyr) c.800T>A (p.Phe267Tyr) | |
| 19 | g.41985022A>C | CA406052607 | ATP1A3 | c.928T>G (p.Phe310Val) c.889T>G (p.Phe297Val) n.202T>G c.922T>G (p.Phe308Val) c.799T>G (p.Phe267Val) | |
| 19 | g.41985022A>G | CA406052609 | ATP1A3 | c.928T>C (p.Phe310Leu) c.889T>C (p.Phe297Leu) n.202T>C c.922T>C (p.Phe308Leu) c.799T>C (p.Phe267Leu) | gnomAD v4 |
| 19 | g.41985022A>T | CA406052611 | ATP1A3 | c.928T>A (p.Phe310Ile) c.889T>A (p.Phe297Ile) n.202T>A c.922T>A (p.Phe308Ile) c.799T>A (p.Phe267Ile) | |
| 19 | g.41985023G>A | CA507695432 | ATP1A3 | c.927C>T (p.Phe309=) c.888C>T (p.Phe296=) n.201C>T c.921C>T (p.Phe307=) c.798C>T (p.Phe266=) | gnomAD v4 |
| 19 | g.41985023G>C | CA406052614 | ATP1A3 | c.927C>G (p.Phe309Leu) c.888C>G (p.Phe296Leu) n.201C>G c.921C>G (p.Phe307Leu) c.798C>G (p.Phe266Leu) | dbSNP |
| 19 | g.41985023G>T | CA406052617 | ATP1A3 | c.927C>A (p.Phe309Leu) c.888C>A (p.Phe296Leu) n.201C>A c.921C>A (p.Phe307Leu) c.798C>A (p.Phe266Leu) | |
| 19 | g.41985024A= | CA2336728004 | ATP1A3 | c.926T= (p.Phe309=) c.887T= (p.Phe296=) n.200T= c.920T= (p.Phe307=) c.797T= (p.Phe266=) | |
| 19 | g.41985024A>C | CA406052620 | ATP1A3 | c.926T>G (p.Phe309Cys) c.887T>G (p.Phe296Cys) n.200T>G c.920T>G (p.Phe307Cys) c.797T>G (p.Phe266Cys) | |
| 19 | g.41985024A>G | CA406052623 | ATP1A3 | c.926T>C (p.Phe309Ser) c.887T>C (p.Phe296Ser) n.200T>C c.920T>C (p.Phe307Ser) c.797T>C (p.Phe266Ser) | dbSNP |
| 19 | g.41985024A>T | CA406052624 | ATP1A3 | c.926T>A (p.Phe309Tyr) c.887T>A (p.Phe296Tyr) n.200T>A c.920T>A (p.Phe307Tyr) c.797T>A (p.Phe266Tyr) | |
| 19 | g.41985025A>C | CA406052626 | ATP1A3 | c.925T>G (p.Phe309Val) c.886T>G (p.Phe296Val) n.199T>G c.919T>G (p.Phe307Val) c.796T>G (p.Phe266Val) | |
| 19 | g.41985025A>G | CA406052627 | ATP1A3 | c.925T>C (p.Phe309Leu) c.886T>C (p.Phe296Leu) n.199T>C c.919T>C (p.Phe307Leu) c.796T>C (p.Phe266Leu) | |
| 19 | g.41985025A>T | CA406052629 | ATP1A3 | c.925T>A (p.Phe309Ile) c.886T>A (p.Phe296Ile) n.199T>A c.919T>A (p.Phe307Ile) c.796T>A (p.Phe266Ile) | |
| 19 | g.41985026G>A | CA507695433 | ATP1A3 | c.924C>T (p.Ser308=) c.885C>T (p.Ser295=) n.198C>T c.918C>T (p.Ser306=) c.795C>T (p.Ser265=) | |
| 19 | g.41985026G>C | CA507695434 | ATP1A3 | c.924C>G (p.Ser308=) c.885C>G (p.Ser295=) n.198C>G c.918C>G (p.Ser306=) c.795C>G (p.Ser265=) | |
| 19 | g.41985026G>T | CA507695435 | ATP1A3 | c.924C>A (p.Ser308=) c.885C>A (p.Ser295=) n.198C>A c.918C>A (p.Ser306=) c.795C>A (p.Ser265=) | |
| 19 | g.41985027G>A | CA406052636 | ATP1A3 | c.923C>T (p.Ser308Phe) c.884C>T (p.Ser295Phe) n.197C>T c.917C>T (p.Ser306Phe) c.794C>T (p.Ser265Phe) | |
| 19 | g.41985027G>C | CA406052633 | ATP1A3 | c.923C>G (p.Ser308Cys) c.884C>G (p.Ser295Cys) n.197C>G c.917C>G (p.Ser306Cys) c.794C>G (p.Ser265Cys) | |
| 19 | g.41985027G>T | CA406052631 | ATP1A3 | c.923C>A (p.Ser308Tyr) c.884C>A (p.Ser295Tyr) n.197C>A c.917C>A (p.Ser306Tyr) c.794C>A (p.Ser265Tyr) | |
| 19 | g.41985027_41985028delinsAC | CA645620114 | ATP1A3 | c.922_923delinsGT (p.Ser308Val) c.883_884delinsGT (p.Ser295Val) n.196_197delinsGT c.916_917delinsGT (p.Ser306Val) c.793_794delinsGT (p.Ser265Val) | COSMIC |
| 19 | g.41985028A>C | CA406052637 | ATP1A3 | c.922T>G (p.Ser308Ala) c.883T>G (p.Ser295Ala) n.196T>G c.916T>G (p.Ser306Ala) c.793T>G (p.Ser265Ala) | |
| 19 | g.41985028A>G | CA406052638 | ATP1A3 | c.922T>C (p.Ser308Pro) c.883T>C (p.Ser295Pro) n.196T>C c.916T>C (p.Ser306Pro) c.793T>C (p.Ser265Pro) | |
| 19 | g.41985028A>T | CA406052639 | ATP1A3 | c.922T>A (p.Ser308Thr) c.883T>A (p.Ser295Thr) n.196T>A c.916T>A (p.Ser306Thr) c.793T>A (p.Ser265Thr) | |
| 19 | g.41985029G>A | CA507695436 | ATP1A3 | c.921C>T (p.Val307=) c.882C>T (p.Val294=) n.195C>T c.915C>T (p.Val305=) c.792C>T (p.Val264=) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.41985029G>C | CA507695437 | ATP1A3 | c.921C>G (p.Val307=) c.882C>G (p.Val294=) n.195C>G c.915C>G (p.Val305=) c.792C>G (p.Val264=) | ClinVar dbSNP |
| 19 | g.41985029G= | CA2336728005 | ATP1A3 | c.921C= (p.Val307=) c.882C= (p.Val294=) n.195C= c.915C= (p.Val305=) c.792C= (p.Val264=) | |
| 19 | g.41985029G>T | CA507695438 | ATP1A3 | c.921C>A (p.Val307=) c.882C>A (p.Val294=) n.195C>A c.915C>A (p.Val305=) c.792C>A (p.Val264=) | |
| 19 | g.41985030A>C | CA406052640 | ATP1A3 | c.920T>G (p.Val307Gly) c.881T>G (p.Val294Gly) n.194T>G c.914T>G (p.Val305Gly) c.791T>G (p.Val264Gly) | |
| 19 | g.41985030A>G | CA406052641 | ATP1A3 | c.920T>C (p.Val307Ala) c.881T>C (p.Val294Ala) n.194T>C c.914T>C (p.Val305Ala) c.791T>C (p.Val264Ala) | |
| 19 | g.41985030A>T | CA406052642 | ATP1A3 | c.920T>A (p.Val307Asp) c.881T>A (p.Val294Asp) n.194T>A c.914T>A (p.Val305Asp) c.791T>A (p.Val264Asp) | |
| 19 | g.41985031C>A | CA406052644 | ATP1A3 | c.919G>T (p.Val307Phe) c.880G>T (p.Val294Phe) n.193G>T c.913G>T (p.Val305Phe) c.790G>T (p.Val264Phe) | |
| 19 | g.41985031C>G | CA406052645 | ATP1A3 | c.919G>C (p.Val307Leu) c.880G>C (p.Val294Leu) n.193G>C c.913G>C (p.Val305Leu) c.790G>C (p.Val264Leu) | |
| 19 | g.41985031C>T | CA406052646 | ATP1A3 | c.919G>A (p.Val307Ile) c.880G>A (p.Val294Ile) n.193G>A c.913G>A (p.Val305Ile) c.790G>A (p.Val264Ile) | |
| 19 | g.41985032A= | CA2336728006 | ATP1A3 | c.918T= (p.Gly306=) c.879T= (p.Gly293=) n.192T= c.912T= (p.Gly304=) c.789T= (p.Gly263=) | |
| 19 | g.41985032A>C | CA507695439 | ATP1A3 | c.918T>G (p.Gly306=) c.879T>G (p.Gly293=) n.192T>G c.912T>G (p.Gly304=) c.789T>G (p.Gly263=) | |
| 19 | g.41985032A>G | CA9467766 | ATP1A3 | c.918T>C (p.Gly306=) c.879T>C (p.Gly293=) n.192T>C c.912T>C (p.Gly304=) c.789T>C (p.Gly263=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985032A>T | CA507695440 | ATP1A3 | c.918T>A (p.Gly306=) c.879T>A (p.Gly293=) n.192T>A c.912T>A (p.Gly304=) c.789T>A (p.Gly263=) | |
| 19 | g.41985033C>A | CA406052648 | ATP1A3 | c.917G>T (p.Gly306Val) c.878G>T (p.Gly293Val) n.191G>T c.911G>T (p.Gly304Val) c.788G>T (p.Gly263Val) | |
| 19 | g.41985033C>G | CA406052649 | ATP1A3 | c.917G>C (p.Gly306Ala) c.878G>C (p.Gly293Ala) n.191G>C c.911G>C (p.Gly304Ala) c.788G>C (p.Gly263Ala) | |
| 19 | g.41985033C>T | CA406052651 | ATP1A3 | c.917G>A (p.Gly306Asp) c.878G>A (p.Gly293Asp) n.191G>A c.911G>A (p.Gly304Asp) c.788G>A (p.Gly263Asp) | |
| 19 | g.41985034C>A | CA406052655 | ATP1A3 | c.916G>T (p.Gly306Cys) c.877G>T (p.Gly293Cys) n.190G>T c.910G>T (p.Gly304Cys) c.787G>T (p.Gly263Cys) | |
| 19 | g.41985034C>G | CA406052657 | ATP1A3 | c.916G>C (p.Gly306Arg) c.877G>C (p.Gly293Arg) n.190G>C c.910G>C (p.Gly304Arg) c.787G>C (p.Gly263Arg) | |
| 19 | g.41985034C>T | CA406052653 | ATP1A3 | c.916G>A (p.Gly306Ser) c.877G>A (p.Gly293Ser) n.190G>A c.910G>A (p.Gly304Ser) c.787G>A (p.Gly263Ser) | |
| 19 | g.41985037_41985048del | CA2695228881 | ATP1A3 | c.905_916del (p.Ala302_Leu305del) c.866_877del (p.Ala289_Leu292del) n.179_190del c.899_910del (p.Ala300_Leu303del) c.776_787del (p.Ala259_Leu262del) | |
| 19 | g.41985035C>A | CA507695442 | ATP1A3 | c.915G>T (p.Leu305=) c.876G>T (p.Leu292=) n.189G>T c.909G>T (p.Leu303=) c.786G>T (p.Leu262=) | gnomAD v4 |
| 19 | g.41985035C>G | CA507695443 | ATP1A3 | c.915G>C (p.Leu305=) c.876G>C (p.Leu292=) n.189G>C c.909G>C (p.Leu303=) c.786G>C (p.Leu262=) | |
| 19 | g.41985035C>T | CA507695441 | ATP1A3 | c.915G>A (p.Leu305=) c.876G>A (p.Leu292=) n.189G>A c.909G>A (p.Leu303=) c.786G>A (p.Leu262=) | |
| 19 | g.41985036A>C | CA406052662 | ATP1A3 | c.914T>G (p.Leu305Arg) c.875T>G (p.Leu292Arg) n.188T>G c.908T>G (p.Leu303Arg) c.785T>G (p.Leu262Arg) | ClinVar dbSNP |
| 19 | g.41985036A>G | CA406052659 | ATP1A3 | c.914T>C (p.Leu305Pro) c.875T>C (p.Leu292Pro) n.188T>C c.908T>C (p.Leu303Pro) c.785T>C (p.Leu262Pro) | |
| 19 | g.41985036A>T | CA406052661 | ATP1A3 | c.914T>A (p.Leu305Gln) c.875T>A (p.Leu292Gln) n.188T>A c.908T>A (p.Leu303Gln) c.785T>A (p.Leu262Gln) | |
| 19 | g.41985037G>A | CA507695444 | ATP1A3 | c.913C>T (p.Leu305=) c.874C>T (p.Leu292=) n.187C>T c.907C>T (p.Leu303=) c.784C>T (p.Leu262=) | COSMIC |
| 19 | g.41985037G>C | CA406052663 | ATP1A3 | c.913C>G (p.Leu305Val) c.874C>G (p.Leu292Val) n.187C>G c.907C>G (p.Leu303Val) c.784C>G (p.Leu262Val) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985037G= | CA2336728007 | ATP1A3 | c.913C= (p.Leu305=) c.874C= (p.Leu292=) n.187C= c.907C= (p.Leu303=) c.784C= (p.Leu262=) | |
| 19 | g.41985037G>T | CA406052665 | ATP1A3 | c.913C>A (p.Leu305Met) c.874C>A (p.Leu292Met) n.187C>A c.907C>A (p.Leu303Met) c.784C>A (p.Leu262Met) | |
| 19 | g.41985038G>A | CA507695445 | ATP1A3 | c.912C>T (p.Phe304=) c.873C>T (p.Phe291=) n.186C>T c.906C>T (p.Phe302=) c.783C>T (p.Phe261=) | COSMIC |
| 19 | g.41985038G>C | CA406052669 | ATP1A3 | c.912C>G (p.Phe304Leu) c.873C>G (p.Phe291Leu) n.186C>G c.906C>G (p.Phe302Leu) c.783C>G (p.Phe261Leu) | |
| 19 | g.41985038G>T | CA406052671 | ATP1A3 | c.912C>A (p.Phe304Leu) c.873C>A (p.Phe291Leu) n.186C>A c.906C>A (p.Phe302Leu) c.783C>A (p.Phe261Leu) | |
| 19 | g.41985039A>C | CA406052674 | ATP1A3 | c.911T>G (p.Phe304Cys) c.872T>G (p.Phe291Cys) n.185T>G c.905T>G (p.Phe302Cys) c.782T>G (p.Phe261Cys) | |
| 19 | g.41985039A>G | CA406052677 | ATP1A3 | c.911T>C (p.Phe304Ser) c.872T>C (p.Phe291Ser) n.185T>C c.905T>C (p.Phe302Ser) c.782T>C (p.Phe261Ser) | |
| 19 | g.41985039A>T | CA406052680 | ATP1A3 | c.911T>A (p.Phe304Tyr) c.872T>A (p.Phe291Tyr) n.185T>A c.905T>A (p.Phe302Tyr) c.782T>A (p.Phe261Tyr) | |
| 19 | g.41985040A>C | CA406052682 | ATP1A3 | c.910T>G (p.Phe304Val) c.871T>G (p.Phe291Val) n.184T>G c.904T>G (p.Phe302Val) c.781T>G (p.Phe261Val) | |
| 19 | g.41985040A>G | CA406052685 | ATP1A3 | c.910T>C (p.Phe304Leu) c.871T>C (p.Phe291Leu) n.184T>C c.904T>C (p.Phe302Leu) c.781T>C (p.Phe261Leu) | |
| 19 | g.41985040A>T | CA406052687 | ATP1A3 | c.910T>A (p.Phe304Ile) c.871T>A (p.Phe291Ile) n.184T>A c.904T>A (p.Phe302Ile) c.781T>A (p.Phe261Ile) | |
| 19 | g.41985041G>A | CA507695446 | ATP1A3 | c.909C>T (p.Val303=) c.870C>T (p.Val290=) n.183C>T c.903C>T (p.Val301=) c.780C>T (p.Val260=) | |
| 19 | g.41985041G>C | CA507695448 | ATP1A3 | c.909C>G (p.Val303=) c.870C>G (p.Val290=) n.183C>G c.903C>G (p.Val301=) c.780C>G (p.Val260=) | |
| 19 | g.41985041G>T | CA507695447 | ATP1A3 | c.909C>A (p.Val303=) c.870C>A (p.Val290=) n.183C>A c.903C>A (p.Val301=) c.780C>A (p.Val260=) | |
| 19 | g.41985042A= | CA2336728008 | ATP1A3 | c.908T= (p.Val303=) c.869T= (p.Val290=) n.182T= c.902T= (p.Val301=) c.779T= (p.Val260=) | |
| 19 | g.41985042A>C | CA406052695 | ATP1A3 | c.908T>G (p.Val303Gly) c.869T>G (p.Val290Gly) n.182T>G c.902T>G (p.Val301Gly) c.779T>G (p.Val260Gly) | dbSNP |
| 19 | g.41985042A>G | CA406052691 | ATP1A3 | c.908T>C (p.Val303Ala) c.869T>C (p.Val290Ala) n.182T>C c.902T>C (p.Val301Ala) c.779T>C (p.Val260Ala) | |
| 19 | g.41985042A>T | CA406052692 | ATP1A3 | c.908T>A (p.Val303Asp) c.869T>A (p.Val290Asp) n.182T>A c.902T>A (p.Val301Asp) c.779T>A (p.Val260Asp) | |
| 19 | g.41985043C>A | CA406052698 | ATP1A3 | c.907G>T (p.Val303Phe) c.868G>T (p.Val290Phe) n.181G>T c.901G>T (p.Val301Phe) c.778G>T (p.Val260Phe) | |
| 19 | g.41985043C>G | CA406052699 | ATP1A3 | c.907G>C (p.Val303Leu) c.868G>C (p.Val290Leu) n.181G>C c.901G>C (p.Val301Leu) c.778G>C (p.Val260Leu) | gnomAD v4 |
| 19 | g.41985043C>T | CA406052702 | ATP1A3 | c.907G>A (p.Val303Ile) c.868G>A (p.Val290Ile) n.181G>A c.901G>A (p.Val301Ile) c.778G>A (p.Val260Ile) | |
| 19 | g.41985044A>C | CA507695449 | ATP1A3 | c.906T>G (p.Ala302=) c.867T>G (p.Ala289=) n.180T>G c.900T>G (p.Ala300=) c.777T>G (p.Ala259=) | |
| 19 | g.41985044A>G | CA507695450 | ATP1A3 | c.906T>C (p.Ala302=) c.867T>C (p.Ala289=) n.180T>C c.900T>C (p.Ala300=) c.777T>C (p.Ala259=) | |
| 19 | g.41985044A>T | CA507695451 | ATP1A3 | c.906T>A (p.Ala302=) c.867T>A (p.Ala289=) n.180T>A c.900T>A (p.Ala300=) c.777T>A (p.Ala259=) | |
| 19 | g.41985045G>A | CA406052705 | ATP1A3 | c.905C>T (p.Ala302Val) c.866C>T (p.Ala289Val) n.179C>T c.899C>T (p.Ala300Val) c.776C>T (p.Ala259Val) | |
| 19 | g.41985045G>C | CA406052708 | ATP1A3 | c.905C>G (p.Ala302Gly) c.866C>G (p.Ala289Gly) n.179C>G c.899C>G (p.Ala300Gly) c.776C>G (p.Ala259Gly) | |
| 19 | g.41985045G>T | CA406052709 | ATP1A3 | c.905C>A (p.Ala302Asp) c.866C>A (p.Ala289Asp) n.179C>A c.899C>A (p.Ala300Asp) c.776C>A (p.Ala259Asp) | |
| 19 | g.41985046C>A | CA406052711 | ATP1A3 | c.904G>T (p.Ala302Ser) c.865G>T (p.Ala289Ser) n.178G>T c.898G>T (p.Ala300Ser) c.775G>T (p.Ala259Ser) | |
| 19 | g.41985046C>G | CA406052712 | ATP1A3 | c.904G>C (p.Ala302Pro) c.865G>C (p.Ala289Pro) n.178G>C c.898G>C (p.Ala300Pro) c.775G>C (p.Ala259Pro) | |
| 19 | g.41985046C>T | CA406052715 | ATP1A3 | c.904G>A (p.Ala302Thr) c.865G>A (p.Ala289Thr) n.178G>A c.898G>A (p.Ala300Thr) c.775G>A (p.Ala259Thr) | |
| 19 | g.41985047C>A | CA507695452 | ATP1A3 | c.903G>T (p.Val301=) c.864G>T (p.Val288=) n.177G>T c.897G>T (p.Val299=) c.774G>T (p.Val258=) | |
| 19 | g.41985047C= | CA2336728009 | ATP1A3 | c.903G= (p.Val301=) c.864G= (p.Val288=) n.177G= c.897G= (p.Val299=) c.774G= (p.Val258=) | |
| 19 | g.41985047C>G | CA507695453 | ATP1A3 | c.903G>C (p.Val301=) c.864G>C (p.Val288=) n.177G>C c.897G>C (p.Val299=) c.774G>C (p.Val258=) | |
| 19 | g.41985047C>T | CA507695454 | ATP1A3 | c.903G>A (p.Val301=) c.864G>A (p.Val288=) n.177G>A c.897G>A (p.Val299=) c.774G>A (p.Val258=) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41985048A>C | CA406052718 | ATP1A3 | c.902T>G (p.Val301Gly) c.863T>G (p.Val288Gly) n.176T>G c.896T>G (p.Val299Gly) c.773T>G (p.Val258Gly) | |
| 19 | g.41985048A>G | CA406052720 | ATP1A3 | c.902T>C (p.Val301Ala) c.863T>C (p.Val288Ala) n.176T>C c.896T>C (p.Val299Ala) c.773T>C (p.Val258Ala) | |
| 19 | g.41985048A>T | CA406052722 | ATP1A3 | c.902T>A (p.Val301Glu) c.863T>A (p.Val288Glu) n.176T>A c.896T>A (p.Val299Glu) c.773T>A (p.Val258Glu) | |
| 19 | g.41985049C>A | CA406052725 | ATP1A3 | c.901G>T (p.Val301Leu) c.862G>T (p.Val288Leu) n.175G>T c.895G>T (p.Val299Leu) c.772G>T (p.Val258Leu) | |
| 19 | g.41985049C= | CA2336728010 | ATP1A3 | c.901G= (p.Val301=) c.862G= (p.Val288=) n.175G= c.895G= (p.Val299=) c.772G= (p.Val258=) | |
| 19 | g.41985049C>G | CA9467768 | ATP1A3 | c.901G>C (p.Val301Leu) c.862G>C (p.Val288Leu) n.175G>C c.895G>C (p.Val299Leu) c.772G>C (p.Val258Leu) | dbSNP ExAC gnomAD v2 |
| 19 | g.41985049C>T | CA9467767 | ATP1A3 | c.901G>A (p.Val301Met) c.862G>A (p.Val288Met) n.175G>A c.895G>A (p.Val299Met) c.772G>A (p.Val258Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985050G>A | CA9467769 | ATP1A3 | c.900C>T (p.Gly300=) c.861C>T (p.Gly287=) n.174C>T c.894C>T (p.Gly298=) c.771C>T (p.Gly257=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985050G>C | CA507695455 | ATP1A3 | c.900C>G (p.Gly300=) c.861C>G (p.Gly287=) n.174C>G c.894C>G (p.Gly298=) c.771C>G (p.Gly257=) | |
| 19 | g.41985050G= | CA2336728011 | ATP1A3 | c.900C= (p.Gly300=) c.861C= (p.Gly287=) n.174C= c.894C= (p.Gly298=) c.771C= (p.Gly257=) | |
| 19 | g.41985050G>T | CA507695456 | ATP1A3 | c.900C>A (p.Gly300=) c.861C>A (p.Gly287=) n.174C>A c.894C>A (p.Gly298=) c.771C>A (p.Gly257=) | |
| 19 | g.41985051C>A | CA406052731 | ATP1A3 | c.899G>T (p.Gly300Val) c.860G>T (p.Gly287Val) n.173G>T c.893G>T (p.Gly298Val) c.770G>T (p.Gly257Val) | |
| 19 | g.41985051C>G | CA406052732 | ATP1A3 | c.899G>C (p.Gly300Ala) c.860G>C (p.Gly287Ala) n.173G>C c.893G>C (p.Gly298Ala) c.770G>C (p.Gly257Ala) | |
| 19 | g.41985051C>T | CA406052735 | ATP1A3 | c.899G>A (p.Gly300Asp) c.860G>A (p.Gly287Asp) n.173G>A c.893G>A (p.Gly298Asp) c.770G>A (p.Gly257Asp) | COSMIC |
| 19 | g.41985052C>A | CA406052739 | ATP1A3 | c.898G>T (p.Gly300Cys) c.859G>T (p.Gly287Cys) n.172G>T c.892G>T (p.Gly298Cys) c.769G>T (p.Gly257Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985052C= | CA2336728012 | ATP1A3 | c.898G= (p.Gly300=) c.859G= (p.Gly287=) n.172G= c.892G= (p.Gly298=) c.769G= (p.Gly257=) | |
| 19 | g.41985052C>G | CA406052743 | ATP1A3 | c.898G>C (p.Gly300Arg) c.859G>C (p.Gly287Arg) n.172G>C c.892G>C (p.Gly298Arg) c.769G>C (p.Gly257Arg) | |
| 19 | g.41985052C>T | CA406052746 | ATP1A3 | c.898G>A (p.Gly300Ser) c.859G>A (p.Gly287Ser) n.172G>A c.892G>A (p.Gly298Ser) c.769G>A (p.Gly257Ser) | ClinVar gnomAD v4 |
| 19 | g.41985053G>A | CA9467770 | ATP1A3 | c.897C>T (p.Thr299=) c.858C>T (p.Thr286=) n.171C>T c.891C>T (p.Thr297=) c.768C>T (p.Thr256=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985053G>C | CA507695458 | ATP1A3 | c.897C>G (p.Thr299=) c.858C>G (p.Thr286=) n.171C>G c.891C>G (p.Thr297=) c.768C>G (p.Thr256=) | |
| 19 | g.41985053G= | CA2336728013 | ATP1A3 | c.897C= (p.Thr299=) c.858C= (p.Thr286=) n.171C= c.891C= (p.Thr297=) c.768C= (p.Thr256=) | |
| 19 | g.41985053G>T | CA507695459 | ATP1A3 | c.897C>A (p.Thr299=) c.858C>A (p.Thr286=) n.171C>A c.891C>A (p.Thr297=) c.768C>A (p.Thr256=) | |
| 19 | g.41985054G>A | CA406052751 | ATP1A3 | c.896C>T (p.Thr299Ile) c.857C>T (p.Thr286Ile) n.170C>T c.890C>T (p.Thr297Ile) c.767C>T (p.Thr256Ile) | |
| 19 | g.41985054G>C | CA406052753 | ATP1A3 | c.896C>G (p.Thr299Ser) c.857C>G (p.Thr286Ser) n.170C>G c.890C>G (p.Thr297Ser) c.767C>G (p.Thr256Ser) | |
| 19 | g.41985054G>T | CA406052755 | ATP1A3 | c.896C>A (p.Thr299Asn) c.857C>A (p.Thr286Asn) n.170C>A c.890C>A (p.Thr297Asn) c.767C>A (p.Thr256Asn) | |
| 19 | g.41985055T>A | CA406052758 | ATP1A3 | c.895A>T (p.Thr299Ser) c.856A>T (p.Thr286Ser) n.169A>T c.889A>T (p.Thr297Ser) c.766A>T (p.Thr256Ser) | |
| 19 | g.41985055T>C | CA406052760 | ATP1A3 | c.895A>G (p.Thr299Ala) c.856A>G (p.Thr286Ala) n.169A>G c.889A>G (p.Thr297Ala) c.766A>G (p.Thr256Ala) | |
| 19 | g.41985055T>G | CA406052765 | ATP1A3 | c.895A>C (p.Thr299Pro) c.856A>C (p.Thr286Pro) n.169A>C c.889A>C (p.Thr297Pro) c.766A>C (p.Thr256Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985055T= | CA2336728014 | ATP1A3 | c.895A= (p.Thr299=) c.856A= (p.Thr286=) n.169A= c.889A= (p.Thr297=) c.766A= (p.Thr256=) | |
| 19 | g.41985056G>A | CA507695462 | ATP1A3 | c.894C>T (p.Ile298=) c.855C>T (p.Ile285=) n.168C>T c.888C>T (p.Ile296=) c.765C>T (p.Ile255=) | dbSNP |
| 19 | g.41985056G>C | CA406052767 | ATP1A3 | c.894C>G (p.Ile298Met) c.855C>G (p.Ile285Met) n.168C>G c.888C>G (p.Ile296Met) c.765C>G (p.Ile255Met) | |
| 19 | g.41985056G= | CA2336728015 | ATP1A3 | c.894C= (p.Ile298=) c.855C= (p.Ile285=) n.168C= c.888C= (p.Ile296=) c.765C= (p.Ile255=) | |
| 19 | g.41985056G>T | CA507695463 | ATP1A3 | c.894C>A (p.Ile298=) c.855C>A (p.Ile285=) n.168C>A c.888C>A (p.Ile296=) c.765C>A (p.Ile255=) | |
| 19 | g.41985057A>C | CA406052771 | ATP1A3 | c.893T>G (p.Ile298Ser) c.854T>G (p.Ile285Ser) n.167T>G c.887T>G (p.Ile296Ser) c.764T>G (p.Ile255Ser) | |
| 19 | g.41985057A>G | CA406052774 | ATP1A3 | c.893T>C (p.Ile298Thr) c.854T>C (p.Ile285Thr) n.167T>C c.887T>C (p.Ile296Thr) c.764T>C (p.Ile255Thr) | |
| 19 | g.41985057A>T | CA406052777 | ATP1A3 | c.893T>A (p.Ile298Asn) c.854T>A (p.Ile285Asn) n.167T>A c.887T>A (p.Ile296Asn) c.764T>A (p.Ile255Asn) | |
| 19 | g.41985058T>A | CA406052780 | ATP1A3 | c.892A>T (p.Ile298Phe) c.853A>T (p.Ile285Phe) n.166A>T c.886A>T (p.Ile296Phe) c.763A>T (p.Ile255Phe) | |
| 19 | g.41985058T>C | CA406052784 | ATP1A3 | c.892A>G (p.Ile298Val) c.853A>G (p.Ile285Val) n.166A>G c.886A>G (p.Ile296Val) c.763A>G (p.Ile255Val) | |
| 19 | g.41985058T>G | CA406052787 | ATP1A3 | c.892A>C (p.Ile298Leu) c.853A>C (p.Ile285Leu) n.166A>C c.886A>C (p.Ile296Leu) c.763A>C (p.Ile255Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985058T= | CA2336728016 | ATP1A3 | c.892A= (p.Ile298=) c.853A= (p.Ile285=) n.166A= c.886A= (p.Ile296=) c.763A= (p.Ile255=) | |
| 19 | g.41985059G>A | CA9467771 | ATP1A3 | c.891C>T (p.Leu297=) c.852C>T (p.Leu284=) n.165C>T c.885C>T (p.Leu295=) c.762C>T (p.Leu254=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985059G>C | CA507695464 | ATP1A3 | c.891C>G (p.Leu297=) c.852C>G (p.Leu284=) n.165C>G c.885C>G (p.Leu295=) c.762C>G (p.Leu254=) | |
| 19 | g.41985059G= | CA2336728017 | ATP1A3 | c.891C= (p.Leu297=) c.852C= (p.Leu284=) n.165C= c.885C= (p.Leu295=) c.762C= (p.Leu254=) | |
| 19 | g.41985059G>T | CA507695466 | ATP1A3 | c.891C>A (p.Leu297=) c.852C>A (p.Leu284=) n.165C>A c.885C>A (p.Leu295=) c.762C>A (p.Leu254=) | |
| 19 | g.41985060A>C | CA406052790 | ATP1A3 | c.890T>G (p.Leu297Arg) c.851T>G (p.Leu284Arg) n.164T>G c.884T>G (p.Leu295Arg) c.761T>G (p.Leu254Arg) | |
| 19 | g.41985060A>G | CA406052793 | ATP1A3 | c.890T>C (p.Leu297Pro) c.851T>C (p.Leu284Pro) n.164T>C c.884T>C (p.Leu295Pro) c.761T>C (p.Leu254Pro) | |
| 19 | g.41985060A>T | CA406052795 | ATP1A3 | c.890T>A (p.Leu297His) c.851T>A (p.Leu284His) n.164T>A c.884T>A (p.Leu295His) c.761T>A (p.Leu254His) | |
| 19 | g.41985061G>A | CA406052798 | ATP1A3 | c.889C>T (p.Leu297Phe) c.850C>T (p.Leu284Phe) n.163C>T c.883C>T (p.Leu295Phe) c.760C>T (p.Leu254Phe) | |
| 19 | g.41985061G>C | CA406052799 | ATP1A3 | c.889C>G (p.Leu297Val) c.850C>G (p.Leu284Val) n.163C>G c.883C>G (p.Leu295Val) c.760C>G (p.Leu254Val) | |
| 19 | g.41985061G>T | CA406052800 | ATP1A3 | c.889C>A (p.Leu297Ile) c.850C>A (p.Leu284Ile) n.163C>A c.883C>A (p.Leu295Ile) c.760C>A (p.Leu254Ile) | COSMIC |
| 19 | g.41985062C>A | CA406052804 | ATP1A3 | c.888G>T (p.Gln296His) c.849G>T (p.Gln283His) n.162G>T c.882G>T (p.Gln294His) c.759G>T (p.Gln253His) | |
| 19 | g.41985062C= | CA2336728018 | ATP1A3 | c.888G= (p.Gln296=) c.849G= (p.Gln283=) n.162G= c.882G= (p.Gln294=) c.759G= (p.Gln253=) | |
| 19 | g.41985062C>G | CA406052805 | ATP1A3 | c.888G>C (p.Gln296His) c.849G>C (p.Gln283His) n.162G>C c.882G>C (p.Gln294His) c.759G>C (p.Gln253His) | |
| 19 | g.41985062C>T | CA507695469 | ATP1A3 | c.888G>A (p.Gln296=) c.849G>A (p.Gln283=) n.162G>A c.882G>A (p.Gln294=) c.759G>A (p.Gln253=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985063T>A | CA406052811 | ATP1A3 | c.887A>T (p.Gln296Leu) c.848A>T (p.Gln283Leu) n.161A>T c.881A>T (p.Gln294Leu) c.758A>T (p.Gln253Leu) | |
| 19 | g.41985063T>C | CA406052813 | ATP1A3 | c.887A>G (p.Gln296Arg) c.848A>G (p.Gln283Arg) n.161A>G c.881A>G (p.Gln294Arg) c.758A>G (p.Gln253Arg) | |
| 19 | g.41985063T>G | CA406052809 | ATP1A3 | c.887A>C (p.Gln296Pro) c.848A>C (p.Gln283Pro) n.161A>C c.881A>C (p.Gln294Pro) c.758A>C (p.Gln253Pro) | |
| 19 | g.41985064G>A | CA406052818 | ATP1A3 | c.886C>T (p.Gln296Ter) c.847C>T (p.Gln283Ter) n.160C>T c.880C>T (p.Gln294Ter) c.757C>T (p.Gln253Ter) | |
| 19 | g.41985064G>C | CA406052816 | ATP1A3 | c.886C>G (p.Gln296Glu) c.847C>G (p.Gln283Glu) n.160C>G c.880C>G (p.Gln294Glu) c.757C>G (p.Gln253Glu) | |
| 19 | g.41985064G>T | CA406052820 | ATP1A3 | c.886C>A (p.Gln296Lys) c.847C>A (p.Gln283Lys) n.160C>A c.880C>A (p.Gln294Lys) c.757C>A (p.Gln253Lys) | |
| 19 | g.41985065G>A | CA507695470 | ATP1A3 | c.885C>T (p.Ile295=) c.846C>T (p.Ile282=) n.159C>T c.879C>T (p.Ile293=) c.756C>T (p.Ile252=) | |
| 19 | g.41985065G>C | CA406052824 | ATP1A3 | c.885C>G (p.Ile295Met) c.846C>G (p.Ile282Met) n.159C>G c.879C>G (p.Ile293Met) c.756C>G (p.Ile252Met) | |
| 19 | g.41985065G>T | CA507695471 | ATP1A3 | c.885C>A (p.Ile295=) c.846C>A (p.Ile282=) n.159C>A c.879C>A (p.Ile293=) c.756C>A (p.Ile252=) | |
| 19 | g.41985066A>C | CA406052827 | ATP1A3 | c.884T>G (p.Ile295Ser) c.845T>G (p.Ile282Ser) n.158T>G c.878T>G (p.Ile293Ser) c.755T>G (p.Ile252Ser) | |
| 19 | g.41985066A>G | CA406052829 | ATP1A3 | c.884T>C (p.Ile295Thr) c.845T>C (p.Ile282Thr) n.158T>C c.878T>C (p.Ile293Thr) c.755T>C (p.Ile252Thr) | |
| 19 | g.41985066A>T | CA406052832 | ATP1A3 | c.884T>A (p.Ile295Asn) c.845T>A (p.Ile282Asn) n.158T>A c.878T>A (p.Ile293Asn) c.755T>A (p.Ile252Asn) | |
| 19 | g.41985067T>A | CA406052841 | ATP1A3 | c.883A>T (p.Ile295Phe) c.844A>T (p.Ile282Phe) c.754A>T n.157A>T c.877A>T (p.Ile293Phe) c.754A>T (p.Ile252Phe) | |
| 19 | g.41985067T>C | CA406052842 | ATP1A3 | c.883A>G (p.Ile295Val) c.844A>G (p.Ile282Val) c.754A>G n.157A>G c.877A>G (p.Ile293Val) c.754A>G (p.Ile252Val) | |
| 19 | g.41985067T>G | CA406052843 | ATP1A3 | c.883A>C (p.Ile295Leu) c.844A>C (p.Ile282Leu) c.754A>C n.157A>C c.877A>C (p.Ile293Leu) c.754A>C (p.Ile252Leu) | |
| 19 | g.41985068G>A | CA507695474 | ATP1A3 | c.882C>T (p.Phe294=) c.843C>T (p.Phe281=) c.753C>T (p.Phe251=) n.156C>T c.876C>T (p.Phe292=) | COSMIC |
| 19 | g.41985068G>C | CA406052844 | ATP1A3 | c.882C>G (p.Phe294Leu) c.843C>G (p.Phe281Leu) c.753C>G (p.Phe251Leu) n.156C>G c.876C>G (p.Phe292Leu) | |
| 19 | g.41985068G>T | CA406052845 | ATP1A3 | c.882C>A (p.Phe294Leu) c.843C>A (p.Phe281Leu) c.753C>A (p.Phe251Leu) n.156C>A c.876C>A (p.Phe292Leu) | |
| 19 | g.41985069A>C | CA406052847 | ATP1A3 | c.881T>G (p.Phe294Cys) c.842T>G (p.Phe281Cys) c.752T>G (p.Phe251Cys) n.155T>G c.875T>G (p.Phe292Cys) | |
| 19 | g.41985069A>G | CA406052849 | ATP1A3 | c.881T>C (p.Phe294Ser) c.842T>C (p.Phe281Ser) c.752T>C (p.Phe251Ser) n.155T>C c.875T>C (p.Phe292Ser) | |
| 19 | g.41985069A>T | CA406052851 | ATP1A3 | c.881T>A (p.Phe294Tyr) c.842T>A (p.Phe281Tyr) c.752T>A (p.Phe251Tyr) n.155T>A c.875T>A (p.Phe292Tyr) | |
| 19 | g.41985070A>C | CA406052852 | ATP1A3 | c.880T>G (p.Phe294Val) c.841T>G (p.Phe281Val) c.751T>G (p.Phe251Val) n.154T>G c.874T>G (p.Phe292Val) | ClinVar dbSNP |
| 19 | g.41985070A>G | CA406052854 | ATP1A3 | c.880T>C (p.Phe294Leu) c.841T>C (p.Phe281Leu) c.751T>C (p.Phe251Leu) n.154T>C c.874T>C (p.Phe292Leu) | |
| 19 | g.41985070A>T | CA406052853 | ATP1A3 | c.880T>A (p.Phe294Ile) c.841T>A (p.Phe281Ile) c.751T>A (p.Phe251Ile) n.154T>A c.874T>A (p.Phe292Ile) | |
| 19 | g.41985071G>A | CA507695476 | ATP1A3 | c.879C>T (p.His293=) c.840C>T (p.His280=) c.750C>T (p.His250=) n.153C>T c.873C>T (p.His291=) | |
| 19 | g.41985071G>C | CA406052855 | ATP1A3 | c.879C>G (p.His293Gln) c.840C>G (p.His280Gln) c.750C>G (p.His250Gln) n.153C>G c.873C>G (p.His291Gln) | |
| 19 | g.41985071G>T | CA406052857 | ATP1A3 | c.879C>A (p.His293Gln) c.840C>A (p.His280Gln) c.750C>A (p.His250Gln) n.153C>A c.873C>A (p.His291Gln) | gnomAD v4 |
| 19 | g.41985072T>A | CA406052858 | ATP1A3 | c.878A>T (p.His293Leu) c.839A>T (p.His280Leu) c.749A>T (p.His250Leu) n.152A>T c.872A>T (p.His291Leu) | gnomAD v4 |
| 19 | g.41985072T>C | CA406052859 | ATP1A3 | c.878A>G (p.His293Arg) c.839A>G (p.His280Arg) c.749A>G (p.His250Arg) n.152A>G c.872A>G (p.His291Arg) | |
| 19 | g.41985072T>G | CA406052862 | ATP1A3 | c.878A>C (p.His293Pro) c.839A>C (p.His280Pro) c.749A>C (p.His250Pro) n.152A>C c.872A>C (p.His291Pro) | |
| 19 | g.41985073G>A | CA406052863 | ATP1A3 | c.877C>T (p.His293Tyr) c.838C>T (p.His280Tyr) c.748C>T (p.His250Tyr) n.151C>T c.871C>T (p.His291Tyr) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41985073G>C | CA406052864 | ATP1A3 | c.877C>G (p.His293Asp) c.838C>G (p.His280Asp) c.748C>G (p.His250Asp) n.151C>G c.871C>G (p.His291Asp) | |
| 19 | g.41985073G= | CA2336728019 | ATP1A3 | c.877C= (p.His293=) c.838C= (p.His280=) c.748C= (p.His250=) n.151C= c.871C= (p.His291=) | |
| 19 | g.41985073G>T | CA406052866 | ATP1A3 | c.877C>A (p.His293Asn) c.838C>A (p.His280Asn) c.748C>A (p.His250Asn) n.151C>A c.871C>A (p.His291Asn) | |
| 19 | g.41985074C>A | CA406052868 | ATP1A3 | c.876G>T (p.Glu292Asp) c.837G>T (p.Glu279Asp) c.747G>T (p.Glu249Asp) n.150G>T c.870G>T (p.Glu290Asp) | gnomAD v4 |
| 19 | g.41985074C>G | CA406052869 | ATP1A3 | c.876G>C (p.Glu292Asp) c.837G>C (p.Glu279Asp) c.747G>C (p.Glu249Asp) n.150G>C c.870G>C (p.Glu290Asp) | |
| 19 | g.41985074C>T | CA507695123 | ATP1A3 | c.876G>A (p.Glu292=) c.837G>A (p.Glu279=) c.747G>A (p.Glu249=) n.150G>A c.870G>A (p.Glu290=) | gnomAD v4 |
| 19 | g.41985075T>A | CA406052874 | ATP1A3 | c.875A>T (p.Glu292Val) c.836A>T (p.Glu279Val) c.746A>T (p.Glu249Val) n.149A>T c.869A>T (p.Glu290Val) | |
| 19 | g.41985075T>C | CA406052876 | ATP1A3 | c.875A>G (p.Glu292Gly) c.836A>G (p.Glu279Gly) c.746A>G (p.Glu249Gly) n.149A>G c.869A>G (p.Glu290Gly) | |
| 19 | g.41985075T>G | CA406052872 | ATP1A3 | c.875A>C (p.Glu292Ala) c.836A>C (p.Glu279Ala) c.746A>C (p.Glu249Ala) n.149A>C c.869A>C (p.Glu290Ala) | |
| 19 | g.41985076C>A | CA406052878 | ATP1A3 | c.874G>T (p.Glu292Ter) c.835G>T (p.Glu279Ter) c.745G>T (p.Glu249Ter) n.148G>T c.868G>T (p.Glu290Ter) | |
| 19 | g.41985076C= | CA2336728020 | ATP1A3 | c.874G= (p.Glu292=) c.835G= (p.Glu279=) c.745G= (p.Glu249=) n.148G= c.868G= (p.Glu290=) | |
| 19 | g.41985076C>G | CA406052880 | ATP1A3 | c.874G>C (p.Glu292Gln) c.835G>C (p.Glu279Gln) c.745G>C (p.Glu249Gln) n.148G>C c.868G>C (p.Glu290Gln) | |
| 19 | g.41985076C>T | CA406052881 | ATP1A3 | c.874G>A (p.Glu292Lys) c.835G>A (p.Glu279Lys) c.745G>A (p.Glu249Lys) n.148G>A c.868G>A (p.Glu290Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41985077A>C | CA406052883 | ATP1A3 | c.873T>G (p.Ile291Met) c.834T>G (p.Ile278Met) c.744T>G (p.Ile248Met) n.147T>G c.867T>G (p.Ile289Met) | |
| 19 | g.41985077A>G | CA507695128 | ATP1A3 | c.873T>C (p.Ile291=) c.834T>C (p.Ile278=) c.744T>C (p.Ile248=) n.147T>C c.867T>C (p.Ile289=) | ClinVar dbSNP |
| 19 | g.41985077A>T | CA507695129 | ATP1A3 | c.873T>A (p.Ile291=) c.834T>A (p.Ile278=) c.744T>A (p.Ile248=) n.147T>A c.867T>A (p.Ile289=) | |
| 19 | g.41985078A>C | CA406052886 | ATP1A3 | c.872T>G (p.Ile291Ser) c.833T>G (p.Ile278Ser) c.743T>G (p.Ile248Ser) n.146T>G c.866T>G (p.Ile289Ser) | |
| 19 | g.41985078A>G | CA406052888 | ATP1A3 | c.872T>C (p.Ile291Thr) c.833T>C (p.Ile278Thr) c.743T>C (p.Ile248Thr) n.146T>C c.866T>C (p.Ile289Thr) | |
| 19 | g.41985078A>T | CA406052891 | ATP1A3 | c.872T>A (p.Ile291Asn) c.833T>A (p.Ile278Asn) c.743T>A (p.Ile248Asn) n.146T>A c.866T>A (p.Ile289Asn) | |
| 19 | g.41985079T>A | CA406052894 | ATP1A3 | c.871A>T (p.Ile291Phe) c.832A>T (p.Ile278Phe) c.742A>T (p.Ile248Phe) n.145A>T c.865A>T (p.Ile289Phe) | |
| 19 | g.41985079T>C | CA406052896 | ATP1A3 | c.871A>G (p.Ile291Val) c.832A>G (p.Ile278Val) c.742A>G (p.Ile248Val) n.145A>G c.865A>G (p.Ile289Val) | |
| 19 | g.41985079T>G | CA406052898 | ATP1A3 | c.871A>C (p.Ile291Leu) c.832A>C (p.Ile278Leu) c.742A>C (p.Ile248Leu) n.145A>C c.865A>C (p.Ile289Leu) | |
| 19 | g.41985080C>A | CA406052899 | ATP1A3 | c.870G>T (p.Glu290Asp) c.831G>T (p.Glu277Asp) c.741G>T (p.Glu247Asp) n.144G>T c.864G>T (p.Glu288Asp) | |
| 19 | g.41985080C>G | CA406052901 | ATP1A3 | c.870G>C (p.Glu290Asp) c.831G>C (p.Glu277Asp) c.741G>C (p.Glu247Asp) n.144G>C c.864G>C (p.Glu288Asp) | |
| 19 | g.41985080C>T | CA507695136 | ATP1A3 | c.870G>A (p.Glu290=) c.831G>A (p.Glu277=) c.741G>A (p.Glu247=) n.144G>A c.864G>A (p.Glu288=) | |
| 19 | g.41985081T>A | CA406052906 | ATP1A3 | c.869A>T (p.Glu290Val) c.830A>T (p.Glu277Val) c.740A>T (p.Glu247Val) n.143A>T c.863A>T (p.Glu288Val) | |
| 19 | g.41985081T>C | CA406052911 | ATP1A3 | c.869A>G (p.Glu290Gly) c.830A>G (p.Glu277Gly) c.740A>G (p.Glu247Gly) n.143A>G c.863A>G (p.Glu288Gly) | |
| 19 | g.41985081T>G | CA406052903 | ATP1A3 | c.869A>C (p.Glu290Ala) c.830A>C (p.Glu277Ala) c.740A>C (p.Glu247Ala) n.143A>C c.863A>C (p.Glu288Ala) | |
| 19 | g.41985082C>A | CA406052914 | ATP1A3 | c.868G>T (p.Glu290Ter) c.829G>T (p.Glu277Ter) c.739G>T (p.Glu247Ter) n.142G>T c.862G>T (p.Glu288Ter) | |
| 19 | g.41985082C= | CA2336728021 | ATP1A3 | c.868G= (p.Glu290=) c.829G= (p.Glu277=) c.739G= (p.Glu247=) n.142G= c.862G= (p.Glu288=) | |
| 19 | g.41985082C>G | CA406052917 | ATP1A3 | c.868G>C (p.Glu290Gln) c.829G>C (p.Glu277Gln) c.739G>C (p.Glu247Gln) n.142G>C c.862G>C (p.Glu288Gln) | |
| 19 | g.41985082C>T | CA341235 | ATP1A3 | c.868G>A (p.Glu290Lys) c.829G>A (p.Glu277Lys) c.739G>A (p.Glu247Lys) n.142G>A c.862G>A (p.Glu288Lys) | ClinVar dbSNP COSMIC |
| 19 | g.41985083G>A | CA9467772 | ATP1A3 | c.867C>T (p.Ile289=) c.828C>T (p.Ile276=) c.738C>T (p.Ile246=) n.141C>T c.861C>T (p.Ile287=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985083G>C | CA406052920 | ATP1A3 | c.867C>G (p.Ile289Met) c.828C>G (p.Ile276Met) c.738C>G (p.Ile246Met) n.141C>G c.861C>G (p.Ile287Met) | dbSNP gnomAD v4 |
| 19 | g.41985083G= | CA2336728022 | ATP1A3 | c.867C= (p.Ile289=) c.828C= (p.Ile276=) c.738C= (p.Ile246=) n.141C= c.861C= (p.Ile287=) | |
| 19 | g.41985083G>T | CA507695138 | ATP1A3 | c.867C>A (p.Ile289=) c.828C>A (p.Ile276=) c.738C>A (p.Ile246=) n.141C>A c.861C>A (p.Ile287=) | |
| 19 | g.41985084A>C | CA406052931 | ATP1A3 | c.866T>G (p.Ile289Ser) c.827T>G (p.Ile276Ser) c.737T>G (p.Ile246Ser) n.140T>G c.860T>G (p.Ile287Ser) | |
| 19 | g.41985084A>G | CA406052927 | ATP1A3 | c.866T>C (p.Ile289Thr) c.827T>C (p.Ile276Thr) c.737T>C (p.Ile246Thr) n.140T>C c.860T>C (p.Ile287Thr) | |
| 19 | g.41985084A>T | CA406052929 | ATP1A3 | c.866T>A (p.Ile289Asn) c.827T>A (p.Ile276Asn) c.737T>A (p.Ile246Asn) n.140T>A c.860T>A (p.Ile287Asn) | |
| 19 | g.41985085T>A | CA406052933 | ATP1A3 | c.865A>T (p.Ile289Phe) c.826A>T (p.Ile276Phe) c.736A>T (p.Ile246Phe) n.139A>T c.859A>T (p.Ile287Phe) | |
| 19 | g.41985085T>C | CA406052935 | ATP1A3 | c.865A>G (p.Ile289Val) c.826A>G (p.Ile276Val) c.736A>G (p.Ile246Val) n.139A>G c.859A>G (p.Ile287Val) | |
| 19 | g.41985085T>G | CA406052937 | ATP1A3 | c.865A>C (p.Ile289Leu) c.826A>C (p.Ile276Leu) c.736A>C (p.Ile246Leu) n.139A>C c.859A>C (p.Ile287Leu) | |
| 19 | g.41985086G>A | CA507695142 | ATP1A3 | c.864C>T (p.Ala288=) c.825C>T (p.Ala275=) c.735C>T (p.Ala245=) n.138C>T c.858C>T (p.Ala286=) | |
| 19 | g.41985086G>C | CA507695143 | ATP1A3 | c.864C>G (p.Ala288=) c.825C>G (p.Ala275=) c.735C>G (p.Ala245=) n.138C>G c.858C>G (p.Ala286=) | |
| 19 | g.41985086G>T | CA507695144 | ATP1A3 | c.864C>A (p.Ala288=) c.825C>A (p.Ala275=) c.735C>A (p.Ala245=) n.138C>A c.858C>A (p.Ala286=) | |
| 19 | g.41985087G>A | CA406052940 | ATP1A3 | c.863C>T (p.Ala288Val) c.824C>T (p.Ala275Val) c.734C>T (p.Ala245Val) n.137C>T c.857C>T (p.Ala286Val) | |
| 19 | g.41985087G>C | CA406052946 | ATP1A3 | c.863C>G (p.Ala288Gly) c.824C>G (p.Ala275Gly) c.734C>G (p.Ala245Gly) n.137C>G c.857C>G (p.Ala286Gly) | |
| 19 | g.41985087G>T | CA406052948 | ATP1A3 | c.863C>A (p.Ala288Asp) c.824C>A (p.Ala275Asp) c.734C>A (p.Ala245Asp) n.137C>A c.857C>A (p.Ala286Asp) | |
| 19 | g.41985088C>A | CA406052954 | ATP1A3 | c.862G>T (p.Ala288Ser) c.823G>T (p.Ala275Ser) c.733G>T (p.Ala245Ser) n.136G>T c.856G>T (p.Ala286Ser) | |
| 19 | g.41985088C= | CA2336728023 | ATP1A3 | c.862G= (p.Ala288=) c.823G= (p.Ala275=) c.733G= (p.Ala245=) n.136G= c.856G= (p.Ala286=) | |
| 19 | g.41985088C>G | CA406052956 | ATP1A3 | c.862G>C (p.Ala288Pro) c.823G>C (p.Ala275Pro) c.733G>C (p.Ala245Pro) n.136G>C c.856G>C (p.Ala286Pro) | |
| 19 | g.41985088C>T | CA406052951 | ATP1A3 | c.862G>A (p.Ala288Thr) c.823G>A (p.Ala275Thr) c.733G>A (p.Ala245Thr) n.136G>A c.856G>A (p.Ala286Thr) | dbSNP COSMIC |
| 19 | g.41985089G>A | CA9467773 | ATP1A3 | c.861C>T (p.Ile287=) c.822C>T (p.Ile274=) c.732C>T (p.Ile244=) n.135C>T c.855C>T (p.Ile285=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985089G>C | CA406052959 | ATP1A3 | c.861C>G (p.Ile287Met) c.822C>G (p.Ile274Met) c.732C>G (p.Ile244Met) n.135C>G c.855C>G (p.Ile285Met) | |
| 19 | g.41985089G= | CA2336728024 | ATP1A3 | c.861C= (p.Ile287=) c.822C= (p.Ile274=) c.732C= (p.Ile244=) n.135C= c.855C= (p.Ile285=) | |
| 19 | g.41985089G>T | CA507695149 | ATP1A3 | c.861C>A (p.Ile287=) c.822C>A (p.Ile274=) c.732C>A (p.Ile244=) n.135C>A c.855C>A (p.Ile285=) | gnomAD v4 |
| 19 | g.41985090A= | CA2336728025 | ATP1A3 | c.860T= (p.Ile287=) c.821T= (p.Ile274=) c.731T= (p.Ile244=) n.134T= c.854T= (p.Ile285=) | |
| 19 | g.41985090A>C | CA406052965 | ATP1A3 | c.860T>G (p.Ile287Ser) c.821T>G (p.Ile274Ser) c.731T>G (p.Ile244Ser) n.134T>G c.854T>G (p.Ile285Ser) | |
| 19 | g.41985090A>G | CA341234 | ATP1A3 | c.860T>C (p.Ile287Thr) c.821T>C (p.Ile274Thr) c.731T>C (p.Ile244Thr) n.134T>C c.854T>C (p.Ile285Thr) | ClinVar dbSNP |
| 19 | g.41985090A>T | CA346000 | ATP1A3 | c.860T>A (p.Ile287Asn) c.821T>A (p.Ile274Asn) c.731T>A (p.Ile244Asn) n.134T>A c.854T>A (p.Ile285Asn) | ClinVar dbSNP gnomAD v4 |
| 19 | g.41985091T>A | CA406052972 | ATP1A3 | c.859A>T (p.Ile287Phe) c.820A>T (p.Ile274Phe) c.730A>T (p.Ile244Phe) n.133A>T c.853A>T (p.Ile285Phe) | ClinVar |
| 19 | g.41985091T>C | CA406052974 | ATP1A3 | c.859A>G (p.Ile287Val) c.820A>G (p.Ile274Val) c.730A>G (p.Ile244Val) n.133A>G c.853A>G (p.Ile285Val) | dbSNP |
| 19 | g.41985091T>G | CA406052976 | ATP1A3 | c.859A>C (p.Ile287Leu) c.820A>C (p.Ile274Leu) c.730A>C (p.Ile244Leu) n.133A>C c.853A>C (p.Ile285Leu) | |
| 19 | g.41985091T= | CA2336728026 | ATP1A3 | c.859A= (p.Ile287=) c.820A= (p.Ile274=) c.730A= (p.Ile244=) n.133A= c.853A= (p.Ile285=) | |
| 19 | g.41985092G>A | CA507695153 | ATP1A3 | c.858C>T (p.Pro286=) c.819C>T (p.Pro273=) c.729C>T (p.Pro243=) n.132C>T c.852C>T (p.Pro284=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.41985092G>C | CA507695154 | ATP1A3 | c.858C>G (p.Pro286=) c.819C>G (p.Pro273=) c.729C>G (p.Pro243=) n.132C>G c.852C>G (p.Pro284=) | |
| 19 | g.41985092G= | CA2336728027 | ATP1A3 | c.858C= (p.Pro286=) c.819C= (p.Pro273=) c.729C= (p.Pro243=) n.132C= c.852C= (p.Pro284=) | |
| 19 | g.41985092G>T | CA9467774 | ATP1A3 | c.858C>A (p.Pro286=) c.819C>A (p.Pro273=) c.729C>A (p.Pro243=) n.132C>A c.852C>A (p.Pro284=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41985093G>A | CA406052980 | ATP1A3 | c.857C>T (p.Pro286Leu) c.818C>T (p.Pro273Leu) c.728C>T (p.Pro243Leu) n.131C>T c.851C>T (p.Pro284Leu) | |
| 19 | g.41985093G>C | CA406052985 | ATP1A3 | c.857C>G (p.Pro286Arg) c.818C>G (p.Pro273Arg) c.728C>G (p.Pro243Arg) n.131C>G c.851C>G (p.Pro284Arg) | |
| 19 | g.41985093G>T | CA406052982 | ATP1A3 | c.857C>A (p.Pro286His) c.818C>A (p.Pro273His) c.728C>A (p.Pro243His) n.131C>A c.851C>A (p.Pro284His) | |
| 19 | g.41985094G>A | CA406052987 | ATP1A3 | c.856C>T (p.Pro286Ser) c.817C>T (p.Pro273Ser) c.727C>T (p.Pro243Ser) n.130C>T c.850C>T (p.Pro284Ser) | |
| 19 | g.41985094G>C | CA406052990 | ATP1A3 | c.856C>G (p.Pro286Ala) c.817C>G (p.Pro273Ala) c.727C>G (p.Pro243Ala) n.130C>G c.850C>G (p.Pro284Ala) | |
| 19 | g.41985094G>T | CA406052992 | ATP1A3 | c.856C>A (p.Pro286Thr) c.817C>A (p.Pro273Thr) c.727C>A (p.Pro243Thr) n.130C>A c.850C>A (p.Pro284Thr) | |
| 19 | g.41985095C>A | CA507695159 | ATP1A3 | c.855G>T (p.Thr285=) c.816G>T (p.Thr272=) c.726G>T (p.Thr242=) n.129G>T c.849G>T (p.Thr283=) | |
| 19 | g.41985095C= | CA2336728028 | ATP1A3 | c.855G= (p.Thr285=) c.816G= (p.Thr272=) c.726G= (p.Thr242=) n.129G= c.849G= (p.Thr283=) | |
| 19 | g.41985095C>G | CA507695158 | ATP1A3 | c.855G>C (p.Thr285=) c.816G>C (p.Thr272=) c.726G>C (p.Thr242=) n.129G>C c.849G>C (p.Thr283=) | |
| 19 | g.41985095C>T | CA9467775 | ATP1A3 | c.855G>A (p.Thr285=) c.816G>A (p.Thr272=) c.726G>A (p.Thr242=) n.129G>A c.849G>A (p.Thr283=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985096G>A | CA406052996 | ATP1A3 | c.854C>T (p.Thr285Met) c.815C>T (p.Thr272Met) c.725C>T (p.Thr242Met) n.128C>T c.848C>T (p.Thr283Met) | COSMIC |
| 19 | g.41985096G>C | CA406053001 | ATP1A3 | c.854C>G (p.Thr285Arg) c.815C>G (p.Thr272Arg) c.725C>G (p.Thr242Arg) n.128C>G c.848C>G (p.Thr283Arg) | gnomAD v4 |
| 19 | g.41985096G>T | CA406052999 | ATP1A3 | c.854C>A (p.Thr285Lys) c.815C>A (p.Thr272Lys) c.725C>A (p.Thr242Lys) n.128C>A c.848C>A (p.Thr283Lys) | |
| 19 | g.41985097T>A | CA406053004 | ATP1A3 | c.853A>T (p.Thr285Ser) c.814A>T (p.Thr272Ser) c.724A>T (p.Thr242Ser) n.127A>T c.847A>T (p.Thr283Ser) | |
| 19 | g.41985097T>C | CA406053006 | ATP1A3 | c.853A>G (p.Thr285Ala) c.814A>G (p.Thr272Ala) c.724A>G (p.Thr242Ala) n.127A>G c.847A>G (p.Thr283Ala) | gnomAD v4 |
| 19 | g.41985097T>G | CA406053009 | ATP1A3 | c.853A>C (p.Thr285Pro) c.814A>C (p.Thr272Pro) c.724A>C (p.Thr242Pro) n.127A>C c.847A>C (p.Thr283Pro) | |
| 19 | g.41985098C>A | CA406053011 | ATP1A3 | c.852G>T (p.Lys284Asn) c.813G>T (p.Lys271Asn) c.723G>T (p.Lys241Asn) n.126G>T c.846G>T (p.Lys282Asn) | |
| 19 | g.41985098C>G | CA406053014 | ATP1A3 | c.852G>C (p.Lys284Asn) c.813G>C (p.Lys271Asn) c.723G>C (p.Lys241Asn) n.126G>C c.846G>C (p.Lys282Asn) | |
| 19 | g.41985098C>T | CA507695164 | ATP1A3 | c.852G>A (p.Lys284=) c.813G>A (p.Lys271=) c.723G>A (p.Lys241=) n.126G>A c.846G>A (p.Lys282=) | |
| 19 | g.41985099T>A | CA406053016 | ATP1A3 | c.851A>T (p.Lys284Met) c.812A>T (p.Lys271Met) c.722A>T (p.Lys241Met) n.125A>T c.845A>T (p.Lys282Met) | |
| 19 | g.41985099T>C | CA406053025 | ATP1A3 | c.851A>G (p.Lys284Arg) c.812A>G (p.Lys271Arg) c.722A>G (p.Lys241Arg) n.125A>G c.845A>G (p.Lys282Arg) | |
| 19 | g.41985099T>G | CA406053027 | ATP1A3 | c.851A>C (p.Lys284Thr) c.812A>C (p.Lys271Thr) c.722A>C (p.Lys241Thr) n.125A>C c.845A>C (p.Lys282Thr) | |
| 19 | g.41985100T>A | CA406053029 | ATP1A3 | c.850A>T (p.Lys284Ter) c.811A>T (p.Lys271Ter) c.721A>T (p.Lys241Ter) n.124A>T c.844A>T (p.Lys282Ter) | |
| 19 | g.41985100T>C | CA406053030 | ATP1A3 | c.850A>G (p.Lys284Glu) c.811A>G (p.Lys271Glu) c.721A>G (p.Lys241Glu) n.124A>G c.844A>G (p.Lys282Glu) | dbSNP |
| 19 | g.41985100T>G | CA406053032 | ATP1A3 | c.850A>C (p.Lys284Gln) c.811A>C (p.Lys271Gln) c.721A>C (p.Lys241Gln) n.124A>C c.844A>C (p.Lys282Gln) | |
| 19 | g.41985100T= | CA2336728029 | ATP1A3 | c.850A= (p.Lys284=) c.811A= (p.Lys271=) c.721A= (p.Lys241=) n.124A= c.844A= (p.Lys282=) | |
| 19 | g.41985101G>A | CA507695169 | ATP1A3 | c.849C>T (p.Gly283=) c.810C>T (p.Gly270=) c.720C>T (p.Gly240=) n.123C>T c.843C>T (p.Gly281=) | |
| 19 | g.41985101G>C | CA507695171 | ATP1A3 | c.849C>G (p.Gly283=) c.810C>G (p.Gly270=) c.720C>G (p.Gly240=) n.123C>G c.843C>G (p.Gly281=) | gnomAD v4 |
| 19 | g.41985101G= | CA2336728030 | ATP1A3 | c.849C= (p.Gly283=) c.810C= (p.Gly270=) c.720C= (p.Gly240=) n.123C= c.843C= (p.Gly281=) | |
| 19 | g.41985101G>T | CA507695170 | ATP1A3 | c.849C>A (p.Gly283=) c.810C>A (p.Gly270=) c.720C>A (p.Gly240=) n.123C>A c.843C>A (p.Gly281=) | dbSNP |
| 19 | g.41985102C>A | CA406053041 | ATP1A3 | c.848G>T (p.Gly283Val) c.809G>T (p.Gly270Val) c.719G>T (p.Gly240Val) n.122G>T c.842G>T (p.Gly281Val) | |
| 19 | g.41985102C= | CA2336728031 | ATP1A3 | c.848G= (p.Gly283=) c.809G= (p.Gly270=) c.719G= (p.Gly240=) n.122G= c.842G= (p.Gly281=) | |
| 19 | g.41985102C>G | CA406053038 | ATP1A3 | c.848G>C (p.Gly283Ala) c.809G>C (p.Gly270Ala) c.719G>C (p.Gly240Ala) n.122G>C c.842G>C (p.Gly281Ala) | |
| 19 | g.41985102C>T | CA406053036 | ATP1A3 | c.848G>A (p.Gly283Asp) c.809G>A (p.Gly270Asp) c.719G>A (p.Gly240Asp) n.122G>A c.842G>A (p.Gly281Asp) | ClinVar dbSNP gnomAD v2 |
| 19 | g.41985103C>A | CA406053044 | ATP1A3 | c.847G>T (p.Gly283Cys) c.808G>T (p.Gly270Cys) c.718G>T (p.Gly240Cys) n.121G>T c.841G>T (p.Gly281Cys) | |
| 19 | g.41985103C>G | CA406053046 | ATP1A3 | c.847G>C (p.Gly283Arg) c.808G>C (p.Gly270Arg) c.718G>C (p.Gly240Arg) n.121G>C c.841G>C (p.Gly281Arg) | |
| 19 | g.41985103C>T | CA406053049 | ATP1A3 | c.847G>A (p.Gly283Ser) c.808G>A (p.Gly270Ser) c.718G>A (p.Gly240Ser) n.121G>A c.841G>A (p.Gly281Ser) | ClinVar |
| 19 | g.41985104C>A | CA507695175 | ATP1A3 | c.846G>T (p.Val282=) c.807G>T (p.Val269=) c.717G>T (p.Val239=) n.120G>T c.840G>T (p.Val280=) | |
| 19 | g.41985104C>G | CA507695176 | ATP1A3 | c.846G>C (p.Val282=) c.807G>C (p.Val269=) c.717G>C (p.Val239=) n.120G>C c.840G>C (p.Val280=) | |
| 19 | g.41985104C>T | CA507695178 | ATP1A3 | c.846G>A (p.Val282=) c.807G>A (p.Val269=) c.717G>A (p.Val239=) n.120G>A c.840G>A (p.Val280=) | |
| 19 | g.41985105A= | CA2336728032 | ATP1A3 | c.845T= (p.Val282=) c.806T= (p.Val269=) c.716T= (p.Val239=) n.119T= c.839T= (p.Val280=) | |
| 19 | g.41985105A>C | CA406053052 | ATP1A3 | c.845T>G (p.Val282Gly) c.806T>G (p.Val269Gly) c.716T>G (p.Val239Gly) n.119T>G c.839T>G (p.Val280Gly) | dbSNP |
| 19 | g.41985105A>G | CA406053053 | ATP1A3 | c.845T>C (p.Val282Ala) c.806T>C (p.Val269Ala) c.716T>C (p.Val239Ala) n.119T>C c.839T>C (p.Val280Ala) | |
| 19 | g.41985105A>T | CA406053055 | ATP1A3 | c.845T>A (p.Val282Glu) c.806T>A (p.Val269Glu) c.716T>A (p.Val239Glu) n.119T>A c.839T>A (p.Val280Glu) | |
| 19 | g.41985106C>A | CA406053062 | ATP1A3 | c.844G>T (p.Val282Leu) c.805G>T (p.Val269Leu) c.715G>T (p.Val239Leu) n.118G>T c.838G>T (p.Val280Leu) | |
| 19 | g.41985106C= | CA2336728033 | ATP1A3 | c.844G= (p.Val282=) c.805G= (p.Val269=) c.715G= (p.Val239=) n.118G= c.838G= (p.Val280=) | |
| 19 | g.41985106C>G | CA406053061 | ATP1A3 | c.844G>C (p.Val282Leu) c.805G>C (p.Val269Leu) c.715G>C (p.Val239Leu) n.118G>C c.838G>C (p.Val280Leu) | |
| 19 | g.41985106C>T | CA9467776 | ATP1A3 | c.844G>A (p.Val282Met) c.805G>A (p.Val269Met) c.715G>A (p.Val239Met) n.118G>A c.838G>A (p.Val280Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.41985107C>A | CA406053066 | ATP1A3 | c.843G>T (p.Glu281Asp) c.804G>T (p.Glu268Asp) c.714G>T (p.Glu238Asp) n.117G>T c.837G>T (p.Glu279Asp) | |
| 19 | g.41985107C= | CA2336728034 | ATP1A3 | c.843G= (p.Glu281=) c.804G= (p.Glu268=) c.714G= (p.Glu238=) n.117G= c.837G= (p.Glu279=) | |
| 19 | g.41985107C>G | CA406053068 | ATP1A3 | c.843G>C (p.Glu281Asp) c.804G>C (p.Glu268Asp) c.714G>C (p.Glu238Asp) n.117G>C c.837G>C (p.Glu279Asp) | |
| 19 | g.41985107C>T | CA9467777 | ATP1A3 | c.843G>A (p.Glu281=) c.804G>A (p.Glu268=) c.714G>A (p.Glu238=) n.117G>A c.837G>A (p.Glu279=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41985108T>A | CA406053071 | ATP1A3 | c.842A>T (p.Glu281Val) c.803A>T (p.Glu268Val) c.713A>T (p.Glu238Val) n.116A>T c.836A>T (p.Glu279Val) | |
| 19 | g.41985108T>C | CA406053074 | ATP1A3 | c.842A>G (p.Glu281Gly) c.803A>G (p.Glu268Gly) c.713A>G (p.Glu238Gly) n.116A>G c.836A>G (p.Glu279Gly) | |
| 19 | g.41985108T>G | CA406053076 | ATP1A3 | c.842A>C (p.Glu281Ala) c.803A>C (p.Glu268Ala) c.713A>C (p.Glu238Ala) n.116A>C c.836A>C (p.Glu279Ala) | |
| 19 | g.41985109C>A | CA406053078 | ATP1A3 | c.841G>T (p.Glu281Ter) c.802G>T (p.Glu268Ter) c.712G>T (p.Glu238Ter) n.115G>T c.835G>T (p.Glu279Ter) | COSMIC |
| 19 | g.41985109C>G | CA406053085 | ATP1A3 | c.841G>C (p.Glu281Gln) c.802G>C (p.Glu268Gln) c.712G>C (p.Glu238Gln) n.115G>C c.835G>C (p.Glu279Gln) | |
| 19 | g.41985109C>T | CA406053082 | ATP1A3 | c.841G>A (p.Glu281Lys) c.802G>A (p.Glu268Lys) c.712G>A (p.Glu238Lys) n.115G>A c.835G>A (p.Glu279Lys) | |
| 19 | g.41985110C>A | CA507695182 | ATP1A3 | c.840G>T (p.Leu280=) c.801G>T (p.Leu267=) c.711G>T (p.Leu237=) n.114G>T c.834G>T (p.Leu278=) | |
| 19 | g.41985110C>G | CA507695183 | ATP1A3 | c.840G>C (p.Leu280=) c.801G>C (p.Leu267=) c.711G>C (p.Leu237=) n.114G>C c.834G>C (p.Leu278=) | |
| 19 | g.41985110C>T | CA507695184 | ATP1A3 | c.840G>A (p.Leu280=) c.801G>A (p.Leu267=) c.711G>A (p.Leu237=) n.114G>A c.834G>A (p.Leu278=) | |
| 19 | g.41985111A>C | CA406053088 | ATP1A3 | c.839T>G (p.Leu280Arg) c.800T>G (p.Leu267Arg) c.710T>G (p.Leu237Arg) n.113T>G c.833T>G (p.Leu278Arg) | |
| 19 | g.41985111A>G | CA406053090 | ATP1A3 | c.839T>C (p.Leu280Pro) c.800T>C (p.Leu267Pro) c.710T>C (p.Leu237Pro) n.113T>C c.833T>C (p.Leu278Pro) | |
| 19 | g.41985111A>T | CA406053093 | ATP1A3 | c.839T>A (p.Leu280Gln) c.800T>A (p.Leu267Gln) c.710T>A (p.Leu237Gln) n.113T>A c.833T>A (p.Leu278Gln) | |
| 19 | g.41985111dup | CA2814451412 | ATP1A3 | c.839dup (p.Glu281GlyfsTer12) c.800dup (p.Glu268GlyfsTer12) c.710dup (p.Glu238GlyfsTer12) n.113dup c.833dup (p.Glu279GlyfsTer12) | |
| 19 | g.41985112G>A | CA507695185 | ATP1A3 | c.838C>T (p.Leu280=) c.799C>T (p.Leu267=) c.709C>T (p.Leu237=) n.112C>T c.832C>T (p.Leu278=) | |
| 19 | g.41985112G>C | CA406053094 | ATP1A3 | c.838C>G (p.Leu280Val) c.799C>G (p.Leu267Val) c.709C>G (p.Leu237Val) n.112C>G c.832C>G (p.Leu278Val) | |
| 19 | g.41985112G>T | CA406053096 | ATP1A3 | c.838C>A (p.Leu280Met) c.799C>A (p.Leu267Met) c.709C>A (p.Leu237Met) n.112C>A c.832C>A (p.Leu278Met) | |
| 19 | g.41985113C>A | CA507695186 | ATP1A3 | c.837G>T (p.Gly279=) c.798G>T (p.Gly266=) c.708G>T (p.Gly236=) n.111G>T c.831G>T (p.Gly277=) | gnomAD v4 |
| 19 | g.41985113C>G | CA507695187 | ATP1A3 | c.837G>C (p.Gly279=) c.798G>C (p.Gly266=) c.708G>C (p.Gly236=) n.111G>C c.831G>C (p.Gly277=) | gnomAD v4 |
| 19 | g.41985113C>T | CA507695188 | ATP1A3 | c.837G>A (p.Gly279=) c.798G>A (p.Gly266=) c.708G>A (p.Gly236=) n.111G>A c.831G>A (p.Gly277=) | ClinVar dbSNP |
| 19 | g.41985114C>A | CA406053099 | ATP1A3 | c.836G>T (p.Gly279Val) c.797G>T (p.Gly266Val) c.707G>T (p.Gly236Val) n.110G>T c.830G>T (p.Gly277Val) | ClinVar |
| 19 | g.41985114C>G | CA406053101 | ATP1A3 | c.836G>C (p.Gly279Ala) c.797G>C (p.Gly266Ala) c.707G>C (p.Gly236Ala) n.110G>C c.830G>C (p.Gly277Ala) | |
| 19 | g.41985114C>T | CA406053104 | ATP1A3 | c.836G>A (p.Gly279Glu) c.797G>A (p.Gly266Glu) c.707G>A (p.Gly236Glu) n.110G>A c.830G>A (p.Gly277Glu) |