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 |
|---|---|---|---|---|---|
| X | g.18588058T>A | CA412353474 | CDKL5 | c.659T>A (p.Leu220His) n.373T>A c.527T>A (p.Leu176His) n.911T>A | |
| X | g.18588058T>C | CA170500 | CDKL5 | c.659T>C (p.Leu220Pro) n.373T>C c.527T>C (p.Leu176Pro) n.911T>C | ClinVar dbSNP |
| X | g.18588058T>G | CA412353477 | CDKL5 | c.659T>G (p.Leu220Arg) n.373T>G c.527T>G (p.Leu176Arg) n.911T>G | |
| X | g.18588058T= | CA2417969138 | CDKL5 | c.659T= (p.Leu220=) n.373T= c.527T= (p.Leu176=) n.911T= | |
| X | g.18588062dup | CA915950762 | CDKL5 | c.663dup (p.Thr222TyrfsTer12) n.377dup c.531dup (p.Thr178TyrfsTer12) n.915dup | ClinVar dbSNP |
| X | g.18588059T>A | CA515470335 | CDKL5 | c.660T>A (p.Leu220=) n.374T>A c.528T>A (p.Leu176=) n.912T>A | |
| X | g.18588059T>C | CA10360292 | CDKL5 | c.660T>C (p.Leu220=) n.374T>C c.528T>C (p.Leu176=) n.912T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18588059T>G | CA515470336 | CDKL5 | c.660T>G (p.Leu220=) n.374T>G c.528T>G (p.Leu176=) n.912T>G | |
| X | g.18588059T= | CA2417969139 | CDKL5 | c.660T= (p.Leu220=) n.374T= c.528T= (p.Leu176=) n.912T= | |
| X | g.18588059_18588063dup | CA199414 | CDKL5 | c.660_664dup (p.Thr222IlefsTer8) n.374_378dup c.528_532dup (p.Thr178IlefsTer8) n.912_916dup | ClinVar dbSNP |
| X | g.18588060T>A | CA412353485 | CDKL5 | c.661T>A (p.Phe221Ile) n.375T>A c.529T>A (p.Phe177Ile) n.913T>A | |
| X | g.18588060T>C | CA412353482 | CDKL5 | c.661T>C (p.Phe221Leu) n.375T>C c.529T>C (p.Phe177Leu) n.913T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588060T>G | CA412353483 | CDKL5 | c.661T>G (p.Phe221Val) n.375T>G c.529T>G (p.Phe177Val) n.913T>G | |
| X | g.18588060T= | CA2417969140 | CDKL5 | c.661T= (p.Phe221=) n.375T= c.529T= (p.Phe177=) n.913T= | |
| X | g.18588061T>A | CA412353488 | CDKL5 | c.662T>A (p.Phe221Tyr) n.376T>A c.530T>A (p.Phe177Tyr) n.914T>A | |
| X | g.18588061T>C | CA412353490 | CDKL5 | c.662T>C (p.Phe221Ser) n.376T>C c.530T>C (p.Phe177Ser) n.914T>C | |
| X | g.18588061T>G | CA412353492 | CDKL5 | c.662T>G (p.Phe221Cys) n.376T>G c.530T>G (p.Phe177Cys) n.914T>G | gnomAD v4 |
| X | g.18588062T>A | CA412353494 | CDKL5 | c.663T>A (p.Phe221Leu) n.377T>A c.531T>A (p.Phe177Leu) n.915T>A | |
| X | g.18588062T>C | CA515470337 | CDKL5 | c.663T>C (p.Phe221=) n.377T>C c.531T>C (p.Phe177=) n.915T>C | |
| X | g.18588062T>G | CA412353495 | CDKL5 | c.663T>G (p.Phe221Leu) n.377T>G c.531T>G (p.Phe177Leu) n.915T>G | |
| X | g.18588063A>C | CA412353496 | CDKL5 | c.664A>C (p.Thr222Pro) n.378A>C c.532A>C (p.Thr178Pro) n.916A>C | |
| X | g.18588063A>G | CA412353497 | CDKL5 | c.664A>G (p.Thr222Ala) n.378A>G c.532A>G (p.Thr178Ala) n.916A>G | |
| X | g.18588063A>T | CA412353498 | CDKL5 | c.664A>T (p.Thr222Ser) n.378A>T c.532A>T (p.Thr178Ser) n.916A>T | |
| X | g.18588064del | CA2580100402 | CDKL5 | c.665del (p.Thr222IlefsTer6) n.379del c.533del (p.Thr178IlefsTer6) n.917del | ClinVar |
| X | g.18588064C>A | CA412353499 | CDKL5 | c.665C>A (p.Thr222Asn) n.379C>A c.533C>A (p.Thr178Asn) n.917C>A | |
| X | g.18588064C= | CA2417969141 | CDKL5 | c.665C= (p.Thr222=) n.379C= c.533C= (p.Thr178=) n.917C= | |
| X | g.18588064C>G | CA412353500 | CDKL5 | c.665C>G (p.Thr222Ser) n.379C>G c.533C>G (p.Thr178Ser) n.917C>G | |
| X | g.18588064C>T | CA326985331 | CDKL5 | c.665C>T (p.Thr222Ile) n.379C>T c.533C>T (p.Thr178Ile) n.917C>T | dbSNP |
| X | g.18588064_18588065delinsCT | CA2417969142 | CDKL5 | c.665_666delinsCT (p.Thr222=) n.379_380delinsCT c.533_534delinsCT (p.Thr178=) n.917_918delinsCT | |
| X | g.18588065del | CA891843669 | CDKL5 | c.666del (p.Ile223PhefsTer5) n.380del c.534del (p.Ile179PhefsTer5) n.918del | ClinVar dbSNP |
| X | g.18588065T>A | CA515470338 | CDKL5 | c.666T>A (p.Thr222=) n.380T>A c.534T>A (p.Thr178=) n.918T>A | |
| X | g.18588065T>C | CA515470339 | CDKL5 | c.666T>C (p.Thr222=) n.380T>C c.534T>C (p.Thr178=) n.918T>C | |
| X | g.18588065T>G | CA515470340 | CDKL5 | c.666T>G (p.Thr222=) n.380T>G c.534T>G (p.Thr178=) n.918T>G | |
| X | g.18588066A>C | CA412353503 | CDKL5 | c.667A>C (p.Ile223Leu) n.381A>C c.535A>C (p.Ile179Leu) n.919A>C | |
| X | g.18588066A>G | CA412353502 | CDKL5 | c.667A>G (p.Ile223Val) n.381A>G c.535A>G (p.Ile179Val) n.919A>G | |
| X | g.18588066A>T | CA412353501 | CDKL5 | c.667A>T (p.Ile223Phe) n.381A>T c.535A>T (p.Ile179Phe) n.919A>T | |
| X | g.18588067T>A | CA412353504 | CDKL5 | c.668T>A (p.Ile223Asn) n.382T>A c.536T>A (p.Ile179Asn) n.920T>A | |
| X | g.18588067T>C | CA412353506 | CDKL5 | c.668T>C (p.Ile223Thr) n.382T>C c.536T>C (p.Ile179Thr) n.920T>C | |
| X | g.18588067T>G | CA412353505 | CDKL5 | c.668T>G (p.Ile223Ser) n.382T>G c.536T>G (p.Ile179Ser) n.920T>G | |
| X | g.18588068T>A | CA515470341 | CDKL5 | c.669T>A (p.Ile223=) n.383T>A c.537T>A (p.Ile179=) n.921T>A | |
| X | g.18588068T>C | CA515470342 | CDKL5 | c.669T>C (p.Ile223=) n.383T>C c.537T>C (p.Ile179=) n.921T>C | |
| X | g.18588068T>G | CA412353507 | CDKL5 | c.669T>G (p.Ile223Met) n.383T>G c.537T>G (p.Ile179Met) n.921T>G | |
| X | g.18588069C>A | CA412353510 | CDKL5 | c.670C>A (p.Gln224Lys) n.384C>A c.538C>A (p.Gln180Lys) n.922C>A | |
| X | g.18588069C= | CA2417969143 | CDKL5 | c.670C= (p.Gln224=) n.384C= c.538C= (p.Gln180=) n.922C= | |
| X | g.18588069C>G | CA412353508 | CDKL5 | c.670C>G (p.Gln224Glu) n.384C>G c.538C>G (p.Gln180Glu) n.922C>G | |
| X | g.18588069C>T | CA412353509 | CDKL5 | c.670C>T (p.Gln224Ter) n.384C>T c.538C>T (p.Gln180Ter) n.922C>T | ClinVar dbSNP |
| X | g.18588070A>C | CA412353511 | CDKL5 | c.671A>C (p.Gln224Pro) n.385A>C c.539A>C (p.Gln180Pro) n.923A>C | |
| X | g.18588070A>G | CA412353512 | CDKL5 | c.671A>G (p.Gln224Arg) n.385A>G c.539A>G (p.Gln180Arg) n.923A>G | |
| X | g.18588070A>T | CA412353513 | CDKL5 | c.671A>T (p.Gln224Leu) n.385A>T c.539A>T (p.Gln180Leu) n.923A>T | |
| X | g.18588071G>A | CA515470343 | CDKL5 | c.672G>A (p.Gln224=) n.386G>A c.540G>A (p.Gln180=) n.924G>A | |
| X | g.18588071G>C | CA412353514 | CDKL5 | c.672G>C (p.Gln224His) n.386G>C c.540G>C (p.Gln180His) n.924G>C | |
| X | g.18588071G>T | CA412353515 | CDKL5 | c.672G>T (p.Gln224His) n.386G>T c.540G>T (p.Gln180His) n.924G>T | |
| X | g.18588072A>C | CA412353518 | CDKL5 | c.673A>C (p.Lys225Gln) n.387A>C c.541A>C (p.Lys181Gln) n.925A>C | |
| X | g.18588072A>G | CA412353516 | CDKL5 | c.673A>G (p.Lys225Glu) n.387A>G c.541A>G (p.Lys181Glu) n.925A>G | |
| X | g.18588072A>T | CA412353517 | CDKL5 | c.673A>T (p.Lys225Ter) n.387A>T c.541A>T (p.Lys181Ter) n.925A>T | |
| X | g.18588073A= | CA2417969144 | CDKL5 | c.674A= (p.Lys225=) n.388A= c.542A= (p.Lys181=) n.926A= | |
| X | g.18588073A>C | CA412353519 | CDKL5 | c.674A>C (p.Lys225Thr) n.388A>C c.542A>C (p.Lys181Thr) n.926A>C | |
| X | g.18588073A>G | CA10360293 | CDKL5 | c.674A>G (p.Lys225Arg) n.388A>G c.542A>G (p.Lys181Arg) n.926A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18588073A>T | CA412353520 | CDKL5 | c.674A>T (p.Lys225Met) n.388A>T c.542A>T (p.Lys181Met) n.926A>T | |
| X | g.18588074G>A | CA515470344 | CDKL5 | c.675G>A (p.Lys225=) n.389G>A c.543G>A (p.Lys181=) n.927G>A | |
| X | g.18588074G>C | CA412353521 | CDKL5 | c.675G>C (p.Lys225Asn) n.389G>C c.543G>C (p.Lys181Asn) n.927G>C | |
| X | g.18588074G>T | CA412353522 | CDKL5 | c.675G>T (p.Lys225Asn) n.389G>T c.543G>T (p.Lys181Asn) n.927G>T | |
| X | g.18588075G>A | CA412353523 | CDKL5 | c.676G>A (p.Val226Met) n.390G>A c.544G>A (p.Val182Met) n.928G>A | gnomAD v4 |
| X | g.18588075G>C | CA412353525 | CDKL5 | c.676G>C (p.Val226Leu) n.390G>C c.544G>C (p.Val182Leu) n.928G>C | |
| X | g.18588075G>T | CA412353524 | CDKL5 | c.676G>T (p.Val226Leu) n.390G>T c.544G>T (p.Val182Leu) n.928G>T | |
| X | g.18588076T>A | CA412353526 | CDKL5 | c.677T>A (p.Val226Glu) n.391T>A c.545T>A (p.Val182Glu) n.929T>A | |
| X | g.18588076T>C | CA412353527 | CDKL5 | c.677T>C (p.Val226Ala) n.391T>C c.545T>C (p.Val182Ala) n.929T>C | |
| X | g.18588076T>G | CA412353528 | CDKL5 | c.677T>G (p.Val226Gly) n.391T>G c.545T>G (p.Val182Gly) n.929T>G | |
| X | g.18588077G>A | CA515470345 | CDKL5 | c.678G>A (p.Val226=) n.392G>A c.546G>A (p.Val182=) n.930G>A | ClinVar gnomAD v4 |
| X | g.18588077G>C | CA515470346 | CDKL5 | c.678G>C (p.Val226=) n.392G>C c.546G>C (p.Val182=) n.930G>C | |
| X | g.18588077G>T | CA515470347 | CDKL5 | c.678G>T (p.Val226=) n.392G>T c.546G>T (p.Val182=) n.930G>T | ClinVar |
| X | g.18588077_18588090delinsGCTAGGACCACTTC | CA2417969145 | CDKL5 | c.678_691delinsGCTAGGACCACTTC (p.Val226=) n.392_405delinsGCTAGGACCACTTC c.546_559delinsGCTAGGACCACTTC (p.Val182=) n.930_943delinsGCTAGGACCACTTC | |
| X | g.18588078C>A | CA412353529 | CDKL5 | c.679C>A (p.Leu227Ile) n.393C>A c.547C>A (p.Leu183Ile) n.931C>A | |
| X | g.18588078C>G | CA412353530 | CDKL5 | c.679C>G (p.Leu227Val) n.393C>G c.547C>G (p.Leu183Val) n.931C>G | |
| X | g.18588078C>T | CA515470348 | CDKL5 | c.679C>T (p.Leu227=) n.393C>T c.547C>T (p.Leu183=) n.931C>T | |
| X | g.18588078_18588090delinsGATCGTGGAA | CA199426 | CDKL5 | c.679_691delinsGATCGTGGAA (p.Leu227_Pro231delinsAspArgGlyThr) n.393_405delinsGATCGTGGAA c.547_559delinsGATCGTGGAA (p.Leu183_Pro187delinsAspArgGlyThr) n.931_943delinsGATCGTGGAA | ClinVar dbSNP |
| X | g.18588079T>A | CA412353531 | CDKL5 | c.680T>A (p.Leu227Gln) n.394T>A c.548T>A (p.Leu183Gln) n.932T>A | |
| X | g.18588079T>C | CA412353532 | CDKL5 | c.680T>C (p.Leu227Pro) n.394T>C c.548T>C (p.Leu183Pro) n.932T>C | ClinVar dbSNP |
| X | g.18588079T>G | CA170502 | CDKL5 | c.680T>G (p.Leu227Arg) n.394T>G c.548T>G (p.Leu183Arg) n.932T>G | ClinVar dbSNP |
| X | g.18588079T= | CA2417969146 | CDKL5 | c.680T= (p.Leu227=) n.394T= c.548T= (p.Leu183=) n.932T= | |
| X | g.18588080A= | CA2417969147 | CDKL5 | c.681A= (p.Leu227=) n.395A= c.549A= (p.Leu183=) n.933A= | |
| X | g.18588080A>C | CA515470349 | CDKL5 | c.681A>C (p.Leu227=) n.395A>C c.549A>C (p.Leu183=) n.933A>C | |
| X | g.18588080A>G | CA16609161 | CDKL5 | c.681A>G (p.Leu227=) n.395A>G c.549A>G (p.Leu183=) n.933A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18588080A>T | CA515470350 | CDKL5 | c.681A>T (p.Leu227=) n.395A>T c.549A>T (p.Leu183=) n.933A>T | |
| X | g.18588081G>A | CA412353533 | CDKL5 | c.682G>A (p.Gly228Arg) n.396G>A c.550G>A (p.Gly184Arg) n.934G>A | |
| X | g.18588081G>C | CA412353534 | CDKL5 | c.682G>C (p.Gly228Arg) n.396G>C c.550G>C (p.Gly184Arg) n.934G>C | |
| X | g.18588081G>T | CA412353535 | CDKL5 | c.682G>T (p.Gly228Ter) n.396G>T c.550G>T (p.Gly184Ter) n.934G>T | |
| X | g.18588082G>A | CA412353538 | CDKL5 | c.683G>A (p.Gly228Glu) n.397G>A c.551G>A (p.Gly184Glu) n.935G>A | |
| X | g.18588082G>C | CA412353536 | CDKL5 | c.683G>C (p.Gly228Ala) n.397G>C c.551G>C (p.Gly184Ala) n.935G>C | |
| X | g.18588082G>T | CA412353537 | CDKL5 | c.683G>T (p.Gly228Val) n.397G>T c.551G>T (p.Gly184Val) n.935G>T | |
| X | g.18588083A>C | CA515470351 | CDKL5 | c.684A>C (p.Gly228=) n.398A>C c.552A>C (p.Gly184=) n.936A>C | |
| X | g.18588083A>G | CA515470352 | CDKL5 | c.684A>G (p.Gly228=) n.398A>G c.552A>G (p.Gly184=) n.936A>G | |
| X | g.18588083A>T | CA515470353 | CDKL5 | c.684A>T (p.Gly228=) n.398A>T c.552A>T (p.Gly184=) n.936A>T | |
| X | g.18588084C>A | CA412353539 | CDKL5 | c.685C>A (p.Pro229Thr) n.399C>A c.553C>A (p.Pro185Thr) n.937C>A | |
| X | g.18588084C>G | CA412353540 | CDKL5 | c.685C>G (p.Pro229Ala) n.399C>G c.553C>G (p.Pro185Ala) n.937C>G | |
| X | g.18588084C>T | CA412353541 | CDKL5 | c.685C>T (p.Pro229Ser) n.399C>T c.553C>T (p.Pro185Ser) n.937C>T | |
| X | g.18588085C>A | CA412353542 | CDKL5 | c.686C>A (p.Pro229Gln) n.400C>A c.554C>A (p.Pro185Gln) n.938C>A | dbSNP |
| X | g.18588085C= | CA2417969148 | CDKL5 | c.686C= (p.Pro229=) n.400C= c.554C= (p.Pro185=) n.938C= | |
| X | g.18588085C>G | CA412353543 | CDKL5 | c.686C>G (p.Pro229Arg) n.400C>G c.554C>G (p.Pro185Arg) n.938C>G | |
| X | g.18588085C>T | CA412353544 | CDKL5 | c.686C>T (p.Pro229Leu) n.400C>T c.554C>T (p.Pro185Leu) n.938C>T | |
| X | g.18588086A= | CA2417969149 | CDKL5 | c.687A= (p.Pro229=) n.401A= c.555A= (p.Pro185=) n.939A= | |
| X | g.18588086A>C | CA515470354 | CDKL5 | c.687A>C (p.Pro229=) n.401A>C c.555A>C (p.Pro185=) n.939A>C | |
| X | g.18588086A>G | CA10360294 | CDKL5 | c.687A>G (p.Pro229=) n.401A>G c.555A>G (p.Pro185=) n.939A>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588086A>T | CA515470355 | CDKL5 | c.687A>T (p.Pro229=) n.401A>T c.555A>T (p.Pro185=) n.939A>T | |
| X | g.18588087C>A | CA412353545 | CDKL5 | c.688C>A (p.Leu230Ile) n.402C>A c.556C>A (p.Leu186Ile) n.940C>A | |
| X | g.18588087C= | CA2417969150 | CDKL5 | c.688C= (p.Leu230=) n.402C= c.556C= (p.Leu186=) n.940C= | |
| X | g.18588087C>G | CA412353546 | CDKL5 | c.688C>G (p.Leu230Val) n.402C>G c.556C>G (p.Leu186Val) n.940C>G | |
| X | g.18588087C>T | CA412353547 | CDKL5 | c.688C>T (p.Leu230Phe) n.402C>T c.556C>T (p.Leu186Phe) n.940C>T | dbSNP |
| X | g.18588088T>A | CA412353548 | CDKL5 | c.689T>A (p.Leu230His) n.403T>A c.557T>A (p.Leu186His) n.941T>A | ClinVar dbSNP |
| X | g.18588088T>C | CA412353549 | CDKL5 | c.689T>C (p.Leu230Pro) n.403T>C c.557T>C (p.Leu186Pro) n.941T>C | |
| X | g.18588088T>G | CA412353550 | CDKL5 | c.689T>G (p.Leu230Arg) n.403T>G c.557T>G (p.Leu186Arg) n.941T>G | |
| X | g.18588088T= | CA2417969151 | CDKL5 | c.689T= (p.Leu230=) n.403T= c.557T= (p.Leu186=) n.941T= | |
| X | g.18588089T>A | CA515470358 | CDKL5 | c.690T>A (p.Leu230=) n.404T>A c.558T>A (p.Leu186=) n.942T>A | |
| X | g.18588089T>C | CA515470357 | CDKL5 | c.690T>C (p.Leu230=) n.404T>C c.558T>C (p.Leu186=) n.942T>C | |
| X | g.18588089T>G | CA515470356 | CDKL5 | c.690T>G (p.Leu230=) n.404T>G c.558T>G (p.Leu186=) n.942T>G | |
| X | g.18588090C>A | CA412353553 | CDKL5 | c.691C>A (p.Pro231Thr) n.405C>A c.559C>A (p.Pro187Thr) n.943C>A | |
| X | g.18588090C>G | CA412353552 | CDKL5 | c.691C>G (p.Pro231Ala) n.405C>G c.559C>G (p.Pro187Ala) n.943C>G | |
| X | g.18588090C>T | CA412353551 | CDKL5 | c.691C>T (p.Pro231Ser) n.405C>T c.559C>T (p.Pro187Ser) n.943C>T | COSMIC |
| X | g.18588091del | CA2695231333 | CDKL5 | c.692del (p.Pro231HisfsTer5) n.406del c.560del (p.Pro187HisfsTer5) n.944del | ClinVar |
| X | g.18588091C>A | CA412353554 | CDKL5 | c.692C>A (p.Pro231Gln) n.406C>A c.560C>A (p.Pro187Gln) n.944C>A | |
| X | g.18588091C>G | CA412353555 | CDKL5 | c.692C>G (p.Pro231Arg) n.406C>G c.560C>G (p.Pro187Arg) n.944C>G | |
| X | g.18588091C>T | CA412353556 | CDKL5 | c.692C>T (p.Pro231Leu) n.406C>T c.560C>T (p.Pro187Leu) n.944C>T | |
| X | g.18588091_18588092delinsCA | CA2417969152 | CDKL5 | c.692_693delinsCA (p.Pro231=) n.406_407delinsCA c.560_561delinsCA (p.Pro187=) n.944_945delinsCA | |
| X | g.18588092del | CA10603550 | CDKL5 | c.693del (p.Ser232LeufsTer4) n.407del c.561del (p.Ser188LeufsTer4) n.945del | ClinVar dbSNP |
| X | g.18588092A>C | CA515470359 | CDKL5 | c.693A>C (p.Pro231=) n.407A>C c.561A>C (p.Pro187=) n.945A>C | |
| X | g.18588092A>G | CA515470360 | CDKL5 | c.693A>G (p.Pro231=) n.407A>G c.561A>G (p.Pro187=) n.945A>G | |
| X | g.18588092A>T | CA515470361 | CDKL5 | c.693A>T (p.Pro231=) n.407A>T c.561A>T (p.Pro187=) n.945A>T | gnomAD v4 |
| X | g.18588093T>A | CA412353557 | CDKL5 | c.694T>A (p.Ser232Thr) n.408T>A c.562T>A (p.Ser188Thr) n.946T>A | |
| X | g.18588093T>C | CA412353558 | CDKL5 | c.694T>C (p.Ser232Pro) n.408T>C c.562T>C (p.Ser188Pro) n.946T>C | |
| X | g.18588093T>G | CA412353559 | CDKL5 | c.694T>G (p.Ser232Ala) n.408T>G c.562T>G (p.Ser188Ala) n.946T>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588093T= | CA2417969153 | CDKL5 | c.694T= (p.Ser232=) n.408T= c.562T= (p.Ser188=) n.946T= | |
| X | g.18588094C>A | CA412353560 | CDKL5 | c.695C>A (p.Ser232Tyr) n.409C>A c.563C>A (p.Ser188Tyr) n.947C>A | |
| X | g.18588094C>G | CA412353561 | CDKL5 | c.695C>G (p.Ser232Cys) n.409C>G c.563C>G (p.Ser188Cys) n.947C>G | |
| X | g.18588094C>T | CA412353562 | CDKL5 | c.695C>T (p.Ser232Phe) n.409C>T c.563C>T (p.Ser188Phe) n.947C>T | |
| X | g.18588095T>A | CA515470362 | CDKL5 | c.696T>A (p.Ser232=) n.410T>A c.564T>A (p.Ser188=) n.948T>A | |
| X | g.18588095T>C | CA515470363 | CDKL5 | c.696T>C (p.Ser232=) n.410T>C c.564T>C (p.Ser188=) n.948T>C | |
| X | g.18588095T>G | CA515470364 | CDKL5 | c.696T>G (p.Ser232=) n.410T>G c.564T>G (p.Ser188=) n.948T>G | |
| X | g.18588096G>A | CA412353563 | CDKL5 | c.697G>A (p.Glu233Lys) n.411G>A c.565G>A (p.Glu189Lys) n.949G>A | |
| X | g.18588096G>C | CA412353564 | CDKL5 | c.697G>C (p.Glu233Gln) n.411G>C c.565G>C (p.Glu189Gln) n.949G>C | |
| X | g.18588096G= | CA2417969154 | CDKL5 | c.697G= (p.Glu233=) n.411G= c.565G= (p.Glu189=) n.949G= | |
| X | g.18588096G>T | CA412353565 | CDKL5 | c.697G>T (p.Glu233Ter) n.411G>T c.565G>T (p.Glu189Ter) n.949G>T | ClinVar dbSNP |
| X | g.18588097A>C | CA412353568 | CDKL5 | c.698A>C (p.Glu233Ala) n.412A>C c.566A>C (p.Glu189Ala) n.950A>C | |
| X | g.18588097A>G | CA412353567 | CDKL5 | c.698A>G (p.Glu233Gly) n.412A>G c.566A>G (p.Glu189Gly) n.950A>G | |
| X | g.18588097A>T | CA412353566 | CDKL5 | c.698A>T (p.Glu233Val) n.412A>T c.566A>T (p.Glu189Val) n.950A>T | |
| X | g.18588098G>A | CA515470365 | CDKL5 | c.699G>A (p.Glu233=) n.413G>A c.567G>A (p.Glu189=) n.951G>A | |
| X | g.18588098G>C | CA412353569 | CDKL5 | c.699G>C (p.Glu233Asp) n.413G>C c.567G>C (p.Glu189Asp) n.951G>C | |
| X | g.18588098G>T | CA412353570 | CDKL5 | c.699G>T (p.Glu233Asp) n.413G>T c.567G>T (p.Glu189Asp) n.951G>T | |
| X | g.18588099C>A | CA412353571 | CDKL5 | c.700C>A (p.Gln234Lys) n.414C>A c.568C>A (p.Gln190Lys) n.952C>A | |
| X | g.18588099C= | CA2417969155 | CDKL5 | c.700C= (p.Gln234=) n.414C= c.568C= (p.Gln190=) n.952C= | |
| X | g.18588099C>G | CA412353572 | CDKL5 | c.700C>G (p.Gln234Glu) n.414C>G c.568C>G (p.Gln190Glu) n.952C>G | |
| X | g.18588099C>T | CA294612 | CDKL5 | c.700C>T (p.Gln234Ter) n.414C>T c.568C>T (p.Gln190Ter) n.952C>T | ClinVar dbSNP |
| X | g.18588100A>C | CA412353573 | CDKL5 | c.701A>C (p.Gln234Pro) n.415A>C c.569A>C (p.Gln190Pro) n.953A>C | |
| X | g.18588100A>G | CA412353574 | CDKL5 | c.701A>G (p.Gln234Arg) n.415A>G c.569A>G (p.Gln190Arg) n.953A>G | |
| X | g.18588100A>T | CA412353575 | CDKL5 | c.701A>T (p.Gln234Leu) n.415A>T c.569A>T (p.Gln190Leu) n.953A>T | |
| X | g.18588101G>A | CA515470366 | CDKL5 | c.702G>A (p.Gln234=) n.416G>A c.570G>A (p.Gln190=) n.954G>A | |
| X | g.18588101G>C | CA412353576 | CDKL5 | c.702G>C (p.Gln234His) n.416G>C c.570G>C (p.Gln190His) n.954G>C | |
| X | g.18588101G>T | CA412353577 | CDKL5 | c.702G>T (p.Gln234His) n.416G>T c.570G>T (p.Gln190His) n.954G>T | COSMIC |
| X | g.18588102A= | CA2417969156 | CDKL5 | c.703A= (p.Met235=) n.417A= c.571A= (p.Met191=) n.955A= | |
| X | g.18588102A>C | CA412353578 | CDKL5 | c.703A>C (p.Met235Leu) n.417A>C c.571A>C (p.Met191Leu) n.955A>C | |
| X | g.18588102A>G | CA412353579 | CDKL5 | c.703A>G (p.Met235Val) n.417A>G c.571A>G (p.Met191Val) n.955A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18588102A>T | CA412353580 | CDKL5 | c.703A>T (p.Met235Leu) n.417A>T c.571A>T (p.Met191Leu) n.955A>T | |
| X | g.18588103T>A | CA412353583 | CDKL5 | c.704T>A (p.Met235Lys) n.418T>A c.572T>A (p.Met191Lys) n.956T>A | |
| X | g.18588103T>C | CA412353582 | CDKL5 | c.704T>C (p.Met235Thr) n.418T>C c.572T>C (p.Met191Thr) n.956T>C | gnomAD v4 |
| X | g.18588103T>G | CA412353581 | CDKL5 | c.704T>G (p.Met235Arg) n.418T>G c.572T>G (p.Met191Arg) n.956T>G | |
| X | g.18588103dup | CA2695231335 | CDKL5 | c.704dup (p.Met235IlefsTer7) n.418dup c.572dup (p.Met191IlefsTer7) n.956dup | |
| X | g.18588104G>A | CA412353584 | CDKL5 | c.705G>A (p.Met235Ile) n.419G>A c.573G>A (p.Met191Ile) n.957G>A | COSMIC |
| X | g.18588104G>C | CA412353585 | CDKL5 | c.705G>C (p.Met235Ile) n.419G>C c.573G>C (p.Met191Ile) n.957G>C | |
| X | g.18588104G>T | CA412353586 | CDKL5 | c.705G>T (p.Met235Ile) n.419G>T c.573G>T (p.Met191Ile) n.957G>T | |
| X | g.18588105A>C | CA412353587 | CDKL5 | c.706A>C (p.Lys236Gln) n.420A>C c.574A>C (p.Lys192Gln) n.958A>C | |
| X | g.18588105A>G | CA412353588 | CDKL5 | c.706A>G (p.Lys236Glu) n.420A>G c.574A>G (p.Lys192Glu) n.958A>G | |
| X | g.18588105A>T | CA412353589 | CDKL5 | c.706A>T (p.Lys236Ter) n.420A>T c.574A>T (p.Lys192Ter) n.958A>T | |
| X | g.18588106A>C | CA412353590 | CDKL5 | c.707A>C (p.Lys236Thr) n.421A>C c.575A>C (p.Lys192Thr) n.959A>C | |
| X | g.18588106A>G | CA412353591 | CDKL5 | c.707A>G (p.Lys236Arg) n.421A>G c.575A>G (p.Lys192Arg) n.959A>G | gnomAD v4 |
| X | g.18588106A>T | CA412353592 | CDKL5 | c.707A>T (p.Lys236Met) n.421A>T c.575A>T (p.Lys192Met) n.959A>T | |
| X | g.18588107G>A | CA515470367 | CDKL5 | c.708G>A (p.Lys236=) n.422G>A c.576G>A (p.Lys192=) n.960G>A | |
| X | g.18588107G>C | CA412353593 | CDKL5 | c.708G>C (p.Lys236Asn) n.422G>C c.576G>C (p.Lys192Asn) n.960G>C | |
| X | g.18588107G>T | CA412353594 | CDKL5 | c.708G>T (p.Lys236Asn) n.422G>T c.576G>T (p.Lys192Asn) n.960G>T | |
| X | g.18588108C>A | CA412353595 | CDKL5 | c.709C>A (p.Leu237Ile) n.423C>A c.577C>A (p.Leu193Ile) n.961C>A | |
| X | g.18588108C>G | CA412353596 | CDKL5 | c.709C>G (p.Leu237Val) n.423C>G c.577C>G (p.Leu193Val) n.961C>G | |
| X | g.18588108C>T | CA412353597 | CDKL5 | c.709C>T (p.Leu237Phe) n.423C>T c.577C>T (p.Leu193Phe) n.961C>T | |
| X | g.18588108_18588109delinsCT | CA2417969157 | CDKL5 | c.709_710delinsCT (p.Leu237=) n.423_424delinsCT c.577_578delinsCT (p.Leu193=) n.961_962delinsCT | |
| X | g.18588109T>A | CA412353599 | CDKL5 | c.710T>A (p.Leu237His) n.424T>A c.578T>A (p.Leu193His) n.962T>A | |
| X | g.18588109T>C | CA412353600 | CDKL5 | c.710T>C (p.Leu237Pro) n.424T>C c.578T>C (p.Leu193Pro) n.962T>C | |
| X | g.18588109T>G | CA412353598 | CDKL5 | c.710T>G (p.Leu237Arg) n.424T>G c.578T>G (p.Leu193Arg) n.962T>G | |
| X | g.18588111_18588112dup | CA2580100405 | CDKL5 | c.712_713dup (p.Tyr239SerfsTer29) n.426_427dup c.580_581dup (p.Tyr195SerfsTer29) n.964_965dup | ClinVar |
| X | g.18588112del | CA658799604 | CDKL5 | c.713del (p.Phe238SerfsTer29) n.427del c.581del (p.Phe194SerfsTer29) n.965del | ClinVar dbSNP |
| X | g.18588110T>A | CA515470369 | CDKL5 | c.711T>A (p.Leu237=) n.425T>A c.579T>A (p.Leu193=) n.963T>A | |
| X | g.18588110T>C | CA515470370 | CDKL5 | c.711T>C (p.Leu237=) n.425T>C c.579T>C (p.Leu193=) n.963T>C | |
| X | g.18588110T>G | CA515470368 | CDKL5 | c.711T>G (p.Leu237=) n.425T>G c.579T>G (p.Leu193=) n.963T>G | COSMIC |
| X | g.18588111T>A | CA412353601 | CDKL5 | c.712T>A (p.Phe238Ile) n.426T>A c.580T>A (p.Phe194Ile) n.964T>A | |
| X | g.18588111T>C | CA412353602 | CDKL5 | c.712T>C (p.Phe238Leu) n.426T>C c.580T>C (p.Phe194Leu) n.964T>C | |
| X | g.18588111T>G | CA412353603 | CDKL5 | c.712T>G (p.Phe238Val) n.426T>G c.580T>G (p.Phe194Val) n.964T>G | |
| X | g.18588112T>A | CA412353604 | CDKL5 | c.713T>A (p.Phe238Tyr) n.427T>A c.581T>A (p.Phe194Tyr) n.965T>A | |
| X | g.18588112T>C | CA412353605 | CDKL5 | c.713T>C (p.Phe238Ser) n.427T>C c.581T>C (p.Phe194Ser) n.965T>C | |
| X | g.18588112T>G | CA412353606 | CDKL5 | c.713T>G (p.Phe238Cys) n.427T>G c.581T>G (p.Phe194Cys) n.965T>G | |
| X | g.18588113C>A | CA412353607 | CDKL5 | c.714C>A (p.Phe238Leu) n.428C>A c.582C>A (p.Phe194Leu) n.966C>A | |
| X | g.18588113C>G | CA412353608 | CDKL5 | c.714C>G (p.Phe238Leu) n.428C>G c.582C>G (p.Phe194Leu) n.966C>G | gnomAD v4 |
| X | g.18588113C>T | CA515470372 | CDKL5 | c.714C>T (p.Phe238=) n.428C>T c.582C>T (p.Phe194=) n.966C>T | |
| X | g.18588114T>A | CA412353609 | CDKL5 | c.715T>A (p.Tyr239Asn) n.429T>A c.583T>A (p.Tyr195Asn) n.967T>A | |
| X | g.18588114T>C | CA412353610 | CDKL5 | c.715T>C (p.Tyr239His) n.429T>C c.583T>C (p.Tyr195His) n.967T>C | |
| X | g.18588114T>G | CA412353611 | CDKL5 | c.715T>G (p.Tyr239Asp) n.429T>G c.583T>G (p.Tyr195Asp) n.967T>G | |
| X | g.18588115A>C | CA412353612 | CDKL5 | c.716A>C (p.Tyr239Ser) n.430A>C c.584A>C (p.Tyr195Ser) n.968A>C | |
| X | g.18588115A>G | CA412353613 | CDKL5 | c.716A>G (p.Tyr239Cys) n.430A>G c.584A>G (p.Tyr195Cys) n.968A>G | |
| X | g.18588115A>T | CA412353614 | CDKL5 | c.716A>T (p.Tyr239Phe) n.430A>T c.584A>T (p.Tyr195Phe) n.968A>T | |
| X | g.18588116C>A | CA412353615 | CDKL5 | c.717C>A (p.Tyr239Ter) n.431C>A c.585C>A (p.Tyr195Ter) n.969C>A | |
| X | g.18588116C>G | CA412353616 | CDKL5 | c.717C>G (p.Tyr239Ter) n.431C>G c.585C>G (p.Tyr195Ter) n.969C>G | |
| X | g.18588116C>T | CA515470373 | CDKL5 | c.717C>T (p.Tyr239=) n.431C>T c.585C>T (p.Tyr195=) n.969C>T | |
| X | g.18588117A= | CA2417969158 | CDKL5 | c.718A= (p.Ser240=) n.432A= c.586A= (p.Ser196=) n.970A= | |
| X | g.18588117A>C | CA412353617 | CDKL5 | c.718A>C (p.Ser240Arg) n.432A>C c.586A>C (p.Ser196Arg) n.970A>C | |
| X | g.18588117A>G | CA412353618 | CDKL5 | c.718A>G (p.Ser240Gly) n.432A>G c.586A>G (p.Ser196Gly) n.970A>G | dbSNP |
| X | g.18588117A>T | CA412353619 | CDKL5 | c.718A>T (p.Ser240Cys) n.432A>T c.586A>T (p.Ser196Cys) n.970A>T | |
| X | g.18588118G>A | CA412353620 | CDKL5 | c.719G>A (p.Ser240Asn) n.433G>A c.587G>A (p.Ser196Asn) n.971G>A | |
| X | g.18588118G>C | CA10360295 | CDKL5 | c.719G>C (p.Ser240Thr) n.433G>C c.587G>C (p.Ser196Thr) n.971G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588118G= | CA2417969159 | CDKL5 | c.719G= (p.Ser240=) n.433G= c.587G= (p.Ser196=) n.971G= | |
| X | g.18588118G>T | CA412353621 | CDKL5 | c.719G>T (p.Ser240Ile) n.433G>T c.587G>T (p.Ser196Ile) n.971G>T | ClinVar |
| X | g.18588119T>A | CA412353622 | CDKL5 | c.720T>A (p.Ser240Arg) n.434T>A c.588T>A (p.Ser196Arg) n.972T>A | |
| X | g.18588119T>C | CA515470374 | CDKL5 | c.720T>C (p.Ser240=) n.434T>C c.588T>C (p.Ser196=) n.972T>C | |
| X | g.18588119T>G | CA412353623 | CDKL5 | c.720T>G (p.Ser240Arg) n.434T>G c.588T>G (p.Ser196Arg) n.972T>G | |
| X | g.18588120A>C | CA412353624 | CDKL5 | c.721A>C (p.Asn241His) n.435A>C c.589A>C (p.Asn197His) n.973A>C | |
| X | g.18588120A>G | CA412353625 | CDKL5 | c.721A>G (p.Asn241Asp) n.435A>G c.589A>G (p.Asn197Asp) n.973A>G | |
| X | g.18588120A>T | CA412353626 | CDKL5 | c.721A>T (p.Asn241Tyr) n.435A>T c.589A>T (p.Asn197Tyr) n.973A>T | |
| X | g.18588121A>C | CA412353627 | CDKL5 | c.722A>C (p.Asn241Thr) n.436A>C c.590A>C (p.Asn197Thr) n.974A>C | |
| X | g.18588121A>G | CA412353629 | CDKL5 | c.722A>G (p.Asn241Ser) n.436A>G c.590A>G (p.Asn197Ser) n.974A>G | |
| X | g.18588121A>T | CA412353628 | CDKL5 | c.722A>T (p.Asn241Ile) n.436A>T c.590A>T (p.Asn197Ile) n.974A>T | |
| X | g.18588122T>A | CA412353630 | CDKL5 | c.723T>A (p.Asn241Lys) n.437T>A c.591T>A (p.Asn197Lys) n.975T>A | |
| X | g.18588122T>C | CA515470375 | CDKL5 | c.723T>C (p.Asn241=) n.437T>C c.591T>C (p.Asn197=) n.975T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588122T>G | CA412353631 | CDKL5 | c.723T>G (p.Asn241Lys) n.437T>G c.591T>G (p.Asn197Lys) n.975T>G | |
| X | g.18588122T= | CA2417969161 | CDKL5 | c.723T= (p.Asn241=) n.437T= c.591T= (p.Asn197=) n.975T= | |
| X | g.18588122_18588123delinsTC | CA2417969160 | CDKL5 | c.723_724delinsTC (p.Asn241=) n.437_438delinsTC c.591_592delinsTC (p.Asn197=) n.975_976delinsTC | |
| X | g.18588123C>A | CA412353632 | CDKL5 | c.724C>A (p.Pro242Thr) n.438C>A c.592C>A (p.Pro198Thr) n.976C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588123C= | CA2417969162 | CDKL5 | c.724C= (p.Pro242=) n.438C= c.592C= (p.Pro198=) n.976C= | |
| X | g.18588123C>G | CA412353634 | CDKL5 | c.724C>G (p.Pro242Ala) n.438C>G c.592C>G (p.Pro198Ala) n.976C>G | |
| X | g.18588123C>T | CA412353633 | CDKL5 | c.724C>T (p.Pro242Ser) n.438C>T c.592C>T (p.Pro198Ser) n.976C>T | |
| X | g.18588124del | CA658799605 | CDKL5 | c.725del (p.Pro242LeufsTer25) n.439del c.593del (p.Pro198LeufsTer25) n.977del | ClinVar dbSNP |
| X | g.18588124C>A | CA412353635 | CDKL5 | c.725C>A (p.Pro242His) n.439C>A c.593C>A (p.Pro198His) n.977C>A | |
| X | g.18588124C>G | CA412353636 | CDKL5 | c.725C>G (p.Pro242Arg) n.439C>G c.593C>G (p.Pro198Arg) n.977C>G | gnomAD v4 |
| X | g.18588124C>T | CA412353637 | CDKL5 | c.725C>T (p.Pro242Leu) n.439C>T c.593C>T (p.Pro198Leu) n.977C>T | |
| X | g.18588125T>A | CA515470376 | CDKL5 | c.726T>A (p.Pro242=) n.440T>A c.594T>A (p.Pro198=) n.978T>A | gnomAD v4 |
| X | g.18588125T>C | CA515470377 | CDKL5 | c.726T>C (p.Pro242=) n.440T>C c.594T>C (p.Pro198=) n.978T>C | |
| X | g.18588125T>G | CA515470378 | CDKL5 | c.726T>G (p.Pro242=) n.440T>G c.594T>G (p.Pro198=) n.978T>G | |
| X | g.18588126C>A | CA412353638 | CDKL5 | c.727C>A (p.Arg243Ser) n.441C>A c.595C>A (p.Arg199Ser) n.979C>A | |
| X | g.18588126C= | CA2417969163 | CDKL5 | c.727C= (p.Arg243=) n.441C= c.595C= (p.Arg199=) n.979C= | |
| X | g.18588126C>G | CA412353639 | CDKL5 | c.727C>G (p.Arg243Gly) n.441C>G c.595C>G (p.Arg199Gly) n.979C>G | |
| X | g.18588126C>T | CA326985345 | CDKL5 | c.727C>T (p.Arg243Cys) n.441C>T c.595C>T (p.Arg199Cys) n.979C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588127G>A | CA412353640 | CDKL5 | c.728G>A (p.Arg243His) n.442G>A c.596G>A (p.Arg199His) n.980G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.18588127G>C | CA412353641 | CDKL5 | c.728G>C (p.Arg243Pro) n.442G>C c.596G>C (p.Arg199Pro) n.980G>C | |
| X | g.18588127G= | CA2417969164 | CDKL5 | c.728G= (p.Arg243=) n.442G= c.596G= (p.Arg199=) n.980G= | |
| X | g.18588127G>T | CA412353642 | CDKL5 | c.728G>T (p.Arg243Leu) n.442G>T c.596G>T (p.Arg199Leu) n.980G>T | gnomAD v3 gnomAD v4 |
| X | g.18588128C>A | CA515470379 | CDKL5 | c.729C>A (p.Arg243=) n.443C>A c.597C>A (p.Arg199=) n.981C>A | |
| X | g.18588128C= | CA2417969165 | CDKL5 | c.729C= (p.Arg243=) n.443C= c.597C= (p.Arg199=) n.981C= | |
| X | g.18588128C>G | CA515470380 | CDKL5 | c.729C>G (p.Arg243=) n.443C>G c.597C>G (p.Arg199=) n.981C>G | |
| X | g.18588128C>T | CA515470381 | CDKL5 | c.729C>T (p.Arg243=) n.443C>T c.597C>T (p.Arg199=) n.981C>T | dbSNP gnomAD v2 |
| X | g.18588129T>A | CA412353643 | CDKL5 | c.730T>A (p.Phe244Ile) n.444T>A c.598T>A (p.Phe200Ile) n.982T>A | |
| X | g.18588129T>C | CA412353644 | CDKL5 | c.730T>C (p.Phe244Leu) n.444T>C c.598T>C (p.Phe200Leu) n.982T>C | |
| X | g.18588129T>G | CA412353645 | CDKL5 | c.730T>G (p.Phe244Val) n.444T>G c.598T>G (p.Phe200Val) n.982T>G | |
| X | g.18588130T>A | CA412353648 | CDKL5 | c.731T>A (p.Phe244Tyr) n.445T>A c.599T>A (p.Phe200Tyr) n.983T>A | |
| X | g.18588130T>C | CA412353646 | CDKL5 | c.731T>C (p.Phe244Ser) n.445T>C c.599T>C (p.Phe200Ser) n.983T>C | |
| X | g.18588130T>G | CA412353647 | CDKL5 | c.731T>G (p.Phe244Cys) n.445T>G c.599T>G (p.Phe200Cys) n.983T>G | |
| X | g.18588131C>A | CA412353649 | CDKL5 | c.732C>A (p.Phe244Leu) n.446C>A c.600C>A (p.Phe200Leu) n.984C>A | |
| X | g.18588131C= | CA2417969166 | CDKL5 | c.732C= (p.Phe244=) n.446C= c.600C= (p.Phe200=) n.984C= | |
| X | g.18588131C>G | CA412353650 | CDKL5 | c.732C>G (p.Phe244Leu) n.446C>G c.600C>G (p.Phe200Leu) n.984C>G | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588131C>T | CA515470382 | CDKL5 | c.732C>T (p.Phe244=) n.446C>T c.600C>T (p.Phe200=) n.984C>T | |
| X | g.18588132C>A | CA412353651 | CDKL5 | c.733C>A (p.His245Asn) n.447C>A c.601C>A (p.His201Asn) n.985C>A | |
| X | g.18588132C>G | CA412353652 | CDKL5 | c.733C>G (p.His245Asp) n.447C>G c.601C>G (p.His201Asp) n.985C>G | |
| X | g.18588132C>T | CA412353653 | CDKL5 | c.733C>T (p.His245Tyr) n.447C>T c.601C>T (p.His201Tyr) n.985C>T | |
| X | g.18588133A= | CA2417969167 | CDKL5 | c.734A= (p.His245=) n.448A= c.602A= (p.His201=) n.986A= | |
| X | g.18588133A>C | CA412353654 | CDKL5 | c.734A>C (p.His245Pro) n.448A>C c.602A>C (p.His201Pro) n.986A>C | |
| X | g.18588133A>G | CA412353655 | CDKL5 | c.734A>G (p.His245Arg) n.448A>G c.602A>G (p.His201Arg) n.986A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588133A>T | CA412353656 | CDKL5 | c.734A>T (p.His245Leu) n.448A>T c.602A>T (p.His201Leu) n.986A>T | |
| X | g.18588134T>A | CA412353657 | CDKL5 | c.735T>A (p.His245Gln) n.449T>A c.603T>A (p.His201Gln) n.987T>A | |
| X | g.18588134T>C | CA515470383 | CDKL5 | c.735T>C (p.His245=) n.449T>C c.603T>C (p.His201=) n.987T>C | ClinVar gnomAD v4 |
| X | g.18588134T>G | CA412353658 | CDKL5 | c.735T>G (p.His245Gln) n.449T>G c.603T>G (p.His201Gln) n.987T>G | |
| X | g.18588135G>A | CA412353661 | CDKL5 | c.736G>A (p.Gly246Arg) n.450G>A c.604G>A (p.Gly202Arg) n.988G>A | |
| X | g.18588135G>C | CA412353660 | CDKL5 | c.736G>C (p.Gly246Arg) n.450G>C c.604G>C (p.Gly202Arg) n.988G>C | |
| X | g.18588135G>T | CA412353659 | CDKL5 | c.736G>T (p.Gly246Trp) n.450G>T c.604G>T (p.Gly202Trp) n.988G>T | |
| X | g.18588136G>A | CA412353662 | CDKL5 | c.737G>A (p.Gly246Glu) n.451G>A c.605G>A (p.Gly202Glu) n.989G>A | |
| X | g.18588136G>C | CA412353663 | CDKL5 | c.737G>C (p.Gly246Ala) n.451G>C c.605G>C (p.Gly202Ala) n.989G>C | |
| X | g.18588136G>T | CA412353664 | CDKL5 | c.737G>T (p.Gly246Val) n.451G>T c.605G>T (p.Gly202Val) n.989G>T | |
| X | g.18588137G>A | CA515470384 | CDKL5 | c.738G>A (p.Gly246=) n.452G>A c.606G>A (p.Gly202=) n.990G>A | |
| X | g.18588137G>C | CA515470385 | CDKL5 | c.738G>C (p.Gly246=) n.452G>C c.606G>C (p.Gly202=) n.990G>C | |
| X | g.18588137G>T | CA515470386 | CDKL5 | c.738G>T (p.Gly246=) n.452G>T c.606G>T (p.Gly202=) n.990G>T | |
| X | g.18588138C>A | CA412353665 | CDKL5 | c.739C>A (p.Leu247Ile) n.453C>A c.607C>A (p.Leu203Ile) n.991C>A | |
| X | g.18588138C>G | CA412353666 | CDKL5 | c.739C>G (p.Leu247Val) n.453C>G c.607C>G (p.Leu203Val) n.991C>G | |
| X | g.18588138C>T | CA412353667 | CDKL5 | c.739C>T (p.Leu247Phe) n.453C>T c.607C>T (p.Leu203Phe) n.991C>T | |
| X | g.18588139T>A | CA412353668 | CDKL5 | c.740T>A (p.Leu247His) n.454T>A c.608T>A (p.Leu203His) n.992T>A | |
| X | g.18588139T>C | CA412353669 | CDKL5 | c.740T>C (p.Leu247Pro) n.454T>C c.608T>C (p.Leu203Pro) n.992T>C | |
| X | g.18588139T>G | CA412353670 | CDKL5 | c.740T>G (p.Leu247Arg) n.454T>G c.608T>G (p.Leu203Arg) n.992T>G | |
| X | g.18588140C>A | CA515470387 | CDKL5 | c.741C>A (p.Leu247=) n.455C>A c.609C>A (p.Leu203=) n.993C>A | |
| X | g.18588140C= | CA2417969168 | CDKL5 | c.741C= (p.Leu247=) n.455C= c.609C= (p.Leu203=) n.993C= | |
| X | g.18588140C>G | CA515470388 | CDKL5 | c.741C>G (p.Leu247=) n.455C>G c.609C>G (p.Leu203=) n.993C>G | |
| X | g.18588140C>T | CA10360296 | CDKL5 | c.741C>T (p.Leu247=) n.455C>T c.609C>T (p.Leu203=) n.993C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18588141C>A | CA515470389 | CDKL5 | c.742C>A (p.Arg248=) n.456C>A c.610C>A (p.Arg204=) n.994C>A | |
| X | g.18588141C= | CA2417969169 | CDKL5 | c.742C= (p.Arg248=) n.456C= c.610C= (p.Arg204=) n.994C= | |
| X | g.18588141C>G | CA412353671 | CDKL5 | c.742C>G (p.Arg248Gly) n.456C>G c.610C>G (p.Arg204Gly) n.994C>G | |
| X | g.18588141C>T | CA326985348 | CDKL5 | c.742C>T (p.Arg248Trp) n.456C>T c.610C>T (p.Arg204Trp) n.994C>T | dbSNP COSMIC |
| X | g.18588142G>A | CA412353673 | CDKL5 | c.743G>A (p.Arg248Gln) n.457G>A c.611G>A (p.Arg204Gln) n.995G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588142G>C | CA412353672 | CDKL5 | c.743G>C (p.Arg248Pro) n.457G>C c.611G>C (p.Arg204Pro) n.995G>C | |
| X | g.18588142G= | CA2417969170 | CDKL5 | c.743G= (p.Arg248=) n.457G= c.611G= (p.Arg204=) n.995G= | |
| X | g.18588142G>T | CA16621271 | CDKL5 | c.743G>T (p.Arg248Leu) n.457G>T c.611G>T (p.Arg204Leu) n.995G>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588143G>A | CA515470390 | CDKL5 | c.744G>A (p.Arg248=) n.458G>A c.612G>A (p.Arg204=) n.996G>A | |
| X | g.18588143G>C | CA515470392 | CDKL5 | c.744G>C (p.Arg248=) n.458G>C c.612G>C (p.Arg204=) n.996G>C | |
| X | g.18588143G>T | CA515470391 | CDKL5 | c.744G>T (p.Arg248=) n.458G>T c.612G>T (p.Arg204=) n.996G>T | |
| X | g.18588144G>A | CA412353674 | CDKL5 | c.744+1G>A (n.744+1G>A) n.459G>A c.612+1G>A (n.612+1G>A) n.996+1G>A | ClinVar dbSNP |
| X | g.18588144G>C | CA412353675 | CDKL5 | c.744+1G>C (n.744+1G>C) n.459G>C c.612+1G>C (n.612+1G>C) n.996+1G>C | |
| X | g.18588144G= | CA2417969171 | CDKL5 | c.744+1G= (n.744+1G=) n.459G= c.612+1G= (n.612+1G=) n.996+1G= | |
| X | g.18588144G>T | CA412353676 | CDKL5 | c.744+1G>T (n.744+1G>T) n.459G>T c.612+1G>T (n.612+1G>T) n.996+1G>T | |
| X | g.18588145T>A | CA412353677 | CDKL5 | c.744+2T>A (n.744+2T>A) n.460T>A c.612+2T>A (n.612+2T>A) n.996+2T>A | |
| X | g.18588145T>C | CA412353678 | CDKL5 | c.744+2T>C (n.744+2T>C) n.460T>C c.612+2T>C (n.612+2T>C) n.996+2T>C | |
| X | g.18588145T>G | CA412353679 | CDKL5 | c.744+2T>G (n.744+2T>G) n.460T>G c.612+2T>G (n.612+2T>G) n.996+2T>G | |
| X | g.18588150G>A | CA2693221842 | CDKL5 | c.744+7G>A (n.744+7G>A) n.465G>A c.612+7G>A (n.612+7G>A) n.996+7G>A | gnomAD v4 |
| X | g.18588150G>C | CA640510407 | CDKL5 | c.744+7G>C (n.744+7G>C) n.465G>C c.612+7G>C (n.612+7G>C) n.996+7G>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588150G= | CA2417969172 | CDKL5 | c.744+7G= (n.744+7G=) n.465G= c.612+7G= (n.612+7G=) n.996+7G= | |
| X | g.18588152T>C | CA2516774033 | CDKL5 | c.744+9T>C (n.744+9T>C) n.467T>C c.612+9T>C (n.612+9T>C) n.996+9T>C | |
| X | g.18588155del | CA2693221843 | CDKL5 | c.744+12del (n.744+12del) n.470del c.612+12del (n.612+12del) n.996+12del | gnomAD v4 |
| X | g.18588153T>G | CA2693221844 | CDKL5 | c.744+10T>G (n.744+10T>G) n.468T>G c.612+10T>G (n.612+10T>G) n.996+10T>G | gnomAD v4 |
| X | g.18588156G>A | CA2579562853 | CDKL5 | c.744+13G>A (n.744+13G>A) n.471G>A c.612+13G>A (n.612+13G>A) n.996+13G>A | |
| X | g.18588156G>T | CA2819901923 | CDKL5 | c.744+13G>T (n.744+13G>T) n.471G>T c.612+13G>T (n.612+13G>T) n.996+13G>T | |
| X | g.18588157C>A | CA2693221845 | CDKL5 | c.744+14C>A (n.744+14C>A) n.472C>A c.612+14C>A (n.612+14C>A) n.996+14C>A | gnomAD v4 |
| X | g.18588158T>C | CA2693221846 | CDKL5 | c.744+15T>C (n.744+15T>C) n.473T>C c.612+15T>C (n.612+15T>C) n.996+15T>C | gnomAD v4 |