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.18580508_18584414del | CA199399 | CDKL5 | c.403+540_554+61del c.271+540_422+61del n.655+540_806+61del | ClinVar |
| X | g.18584305_18584306del | CA199407 | CDKL5 | c.506_507del (p.Thr169ArgfsTer?) c.374_375del (p.Thr125ArgfsTer?) n.758_759del | ClinVar dbSNP |
| X | g.18584305C>A | CA412352353 | CDKL5 | c.506C>A (p.Thr169Lys) c.374C>A (p.Thr125Lys) n.758C>A | gnomAD v4 |
| X | g.18584305C>G | CA412352355 | CDKL5 | c.506C>G (p.Thr169Arg) c.374C>G (p.Thr125Arg) n.758C>G | |
| X | g.18584305C>T | CA412352356 | CDKL5 | c.506C>T (p.Thr169Ile) c.374C>T (p.Thr125Ile) n.758C>T | |
| X | g.18584306A= | CA2417968020 | CDKL5 | c.507A= (p.Thr169=) c.375A= (p.Thr125=) n.759A= | |
| X | g.18584306A>C | CA515470190 | CDKL5 | c.507A>C (p.Thr169=) c.375A>C (p.Thr125=) n.759A>C | ClinVar dbSNP gnomAD v2 |
| X | g.18584306A>G | CA515470191 | CDKL5 | c.507A>G (p.Thr169=) c.375A>G (p.Thr125=) n.759A>G | |
| X | g.18584306A>T | CA515470192 | CDKL5 | c.507A>T (p.Thr169=) c.375A>T (p.Thr125=) n.759A>T | |
| X | g.18584306dup | CA2580100395 | CDKL5 | c.507dup (p.Glu170ArgfsTer?) c.375dup (p.Glu126ArgfsTer?) n.759dup | ClinVar |
| X | g.18584308_18584309del | CA2695231299 | CDKL5 | c.509_510del (p.Glu170ValfsTer?) c.377_378del (p.Glu126ValfsTer?) n.761_762del | |
| X | g.18584307G>A | CA412352366 | CDKL5 | c.508G>A (p.Glu170Lys) c.376G>A (p.Glu126Lys) n.760G>A | gnomAD v4 |
| X | g.18584307G>C | CA412352363 | CDKL5 | c.508G>C (p.Glu170Gln) c.376G>C (p.Glu126Gln) n.760G>C | |
| X | g.18584307G= | CA2417968021 | CDKL5 | c.508G= (p.Glu170=) c.376G= (p.Glu126=) n.760G= | |
| X | g.18584307G>T | CA412352360 | CDKL5 | c.508G>T (p.Glu170Ter) c.376G>T (p.Glu126Ter) n.760G>T | ClinVar dbSNP |
| X | g.18584308A= | CA2417968022 | CDKL5 | c.509A= (p.Glu170=) c.377A= (p.Glu126=) n.761A= | |
| X | g.18584308A>C | CA412352371 | CDKL5 | c.509A>C (p.Glu170Ala) c.377A>C (p.Glu126Ala) n.761A>C | |
| X | g.18584308A>G | CA412352376 | CDKL5 | c.509A>G (p.Glu170Gly) c.377A>G (p.Glu126Gly) n.761A>G | |
| X | g.18584308A>T | CA412352373 | CDKL5 | c.509A>T (p.Glu170Val) c.377A>T (p.Glu126Val) n.761A>T | |
| X | g.18584309G>A | CA515470193 | CDKL5 | c.510G>A (p.Glu170=) c.378G>A (p.Glu126=) n.762G>A | |
| X | g.18584309G>C | CA412352380 | CDKL5 | c.510G>C (p.Glu170Asp) c.378G>C (p.Glu126Asp) n.762G>C | |
| X | g.18584309G>T | CA412352383 | CDKL5 | c.510G>T (p.Glu170Asp) c.378G>T (p.Glu126Asp) n.762G>T | |
| X | g.18584309_18584310dup | CA199408 | CDKL5 | c.510_511dup (p.Tyr171CysfsTer?) c.378_379dup (p.Tyr127CysfsTer?) n.762_763dup | ClinVar dbSNP |
| X | g.18584310T>A | CA412352386 | CDKL5 | c.511T>A (p.Tyr171Asn) c.379T>A (p.Tyr127Asn) n.763T>A | |
| X | g.18584310T>C | CA412352392 | CDKL5 | c.511T>C (p.Tyr171His) c.379T>C (p.Tyr127His) n.763T>C | |
| X | g.18584310T>G | CA412352389 | CDKL5 | c.511T>G (p.Tyr171Asp) c.379T>G (p.Tyr127Asp) n.763T>G | |
| X | g.18584311A>C | CA412352395 | CDKL5 | c.512A>C (p.Tyr171Ser) c.380A>C (p.Tyr127Ser) n.764A>C | |
| X | g.18584311A>G | CA412352398 | CDKL5 | c.512A>G (p.Tyr171Cys) c.380A>G (p.Tyr127Cys) n.764A>G | |
| X | g.18584311A>T | CA412352400 | CDKL5 | c.512A>T (p.Tyr171Phe) c.380A>T (p.Tyr127Phe) n.764A>T | |
| X | g.18584312C>A | CA171644 | CDKL5 | c.513C>A (p.Tyr171Ter) c.381C>A (p.Tyr127Ter) n.765C>A | ClinVar dbSNP |
| X | g.18584312C= | CA2417968023 | CDKL5 | c.513C= (p.Tyr171=) c.381C= (p.Tyr127=) n.765C= | |
| X | g.18584312C>G | CA412352405 | CDKL5 | c.513C>G (p.Tyr171Ter) c.381C>G (p.Tyr127Ter) n.765C>G | ClinVar dbSNP |
| X | g.18584312C>T | CA326984734 | CDKL5 | c.513C>T (p.Tyr171=) c.381C>T (p.Tyr127=) n.765C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584313G>A | CA204612 | CDKL5 | c.514G>A (p.Val172Ile) c.382G>A (p.Val128Ile) n.766G>A | ClinVar dbSNP gnomAD v4 |
| X | g.18584313G>C | CA412352410 | CDKL5 | c.514G>C (p.Val172Leu) c.382G>C (p.Val128Leu) n.766G>C | |
| X | g.18584313G= | CA2417968024 | CDKL5 | c.514G= (p.Val172=) c.382G= (p.Val128=) n.766G= | |
| X | g.18584313G>T | CA412352413 | CDKL5 | c.514G>T (p.Val172Phe) c.382G>T (p.Val128Phe) n.766G>T | |
| X | g.18584314T>A | CA412352417 | CDKL5 | c.515T>A (p.Val172Asp) c.383T>A (p.Val128Asp) n.767T>A | |
| X | g.18584314T>C | CA412352418 | CDKL5 | c.515T>C (p.Val172Ala) c.383T>C (p.Val128Ala) n.767T>C | |
| X | g.18584314T>G | CA412352420 | CDKL5 | c.515T>G (p.Val172Gly) c.383T>G (p.Val128Gly) n.767T>G | ClinVar |
| X | g.18584315T>A | CA515470194 | CDKL5 | c.516T>A (p.Val172=) c.384T>A (p.Val128=) n.768T>A | |
| X | g.18584315T>C | CA515470195 | CDKL5 | c.516T>C (p.Val172=) c.384T>C (p.Val128=) n.768T>C | |
| X | g.18584315T>G | CA515470196 | CDKL5 | c.516T>G (p.Val172=) c.384T>G (p.Val128=) n.768T>G | |
| X | g.18584316G>A | CA412352430 | CDKL5 | c.517G>A (p.Ala173Thr) c.385G>A (p.Ala129Thr) n.769G>A | |
| X | g.18584316G>C | CA412352424 | CDKL5 | c.517G>C (p.Ala173Pro) c.385G>C (p.Ala129Pro) n.769G>C | |
| X | g.18584316G>T | CA412352427 | CDKL5 | c.517G>T (p.Ala173Ser) c.385G>T (p.Ala129Ser) n.769G>T | |
| X | g.18584317C>A | CA412352434 | CDKL5 | c.518C>A (p.Ala173Asp) c.386C>A (p.Ala129Asp) n.770C>A | |
| X | g.18584317C>G | CA412352435 | CDKL5 | c.518C>G (p.Ala173Gly) c.386C>G (p.Ala129Gly) n.770C>G | |
| X | g.18584317C>T | CA412352437 | CDKL5 | c.518C>T (p.Ala173Val) c.386C>T (p.Ala129Val) n.770C>T | |
| X | g.18584318del | CA2579562826 | CDKL5 | c.519del (p.Thr174ProfsTer?) c.387del (p.Thr130ProfsTer?) n.771del | gnomAD v4 |