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.18588077_18588090delinsGCTAGGACCACTTC | CA2417969145 | CDKL5 | c.678_691delinsGCTAGGACCACTTC (p.Val226=) n.392_405delinsGCTAGGACCACTTC c.546_559delinsGCTAGGACCACTTC (p.Val182=) n.930_943delinsGCTAGGACCACTTC | |
| 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 |