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.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 |
| X | g.18584318C>A | CA515470197 | CDKL5 | c.519C>A (p.Ala173=) c.387C>A (p.Ala129=) n.771C>A | |
| X | g.18584318C>G | CA515470198 | CDKL5 | c.519C>G (p.Ala173=) c.387C>G (p.Ala129=) n.771C>G | |
| X | g.18584318C>T | CA515470199 | CDKL5 | c.519C>T (p.Ala173=) c.387C>T (p.Ala129=) n.771C>T | |
| X | g.18584318_18584319delinsCA | CA2417968025 | CDKL5 | c.519_520delinsCA (p.Ala173=) c.387_388delinsCA (p.Ala129=) n.771_772delinsCA | |
| X | g.18584319del | CA915950761 | CDKL5 | c.520del (p.Thr174ProfsTer?) c.388del (p.Thr130ProfsTer?) n.772del | ClinVar dbSNP |
| X | g.18584319A>C | CA412352439 | CDKL5 | c.520A>C (p.Thr174Pro) c.388A>C (p.Thr130Pro) n.772A>C | |
| X | g.18584319A>G | CA412352441 | CDKL5 | c.520A>G (p.Thr174Ala) c.388A>G (p.Thr130Ala) n.772A>G | ClinVar |
| X | g.18584319A>T | CA412352442 | CDKL5 | c.520A>T (p.Thr174Ser) c.388A>T (p.Thr130Ser) n.772A>T | |
| X | g.18584320C>A | CA412352444 | CDKL5 | c.521C>A (p.Thr174Asn) c.389C>A (p.Thr130Asn) n.773C>A | gnomAD v4 |
| X | g.18584320C>G | CA412352446 | CDKL5 | c.521C>G (p.Thr174Ser) c.389C>G (p.Thr130Ser) n.773C>G | |
| X | g.18584320C>T | CA412352447 | CDKL5 | c.521C>T (p.Thr174Ile) c.389C>T (p.Thr130Ile) n.773C>T | |
| X | g.18584321del | CA2579562827 | CDKL5 | c.522del (p.Arg175AspfsTer?) c.390del (p.Arg131AspfsTer?) n.774del | |
| X | g.18584321C>A | CA515470201 | CDKL5 | c.522C>A (p.Thr174=) c.390C>A (p.Thr130=) n.774C>A | |
| X | g.18584321C>G | CA515470202 | CDKL5 | c.522C>G (p.Thr174=) c.390C>G (p.Thr130=) n.774C>G | |
| X | g.18584321C>T | CA515470200 | CDKL5 | c.522C>T (p.Thr174=) c.390C>T (p.Thr130=) n.774C>T | |
| X | g.18584322A= | CA2417968026 | CDKL5 | c.523A= (p.Arg175=) c.391A= (p.Arg131=) n.775A= | |
| X | g.18584322A>C | CA515470203 | CDKL5 | c.523A>C (p.Arg175=) c.391A>C (p.Arg131=) n.775A>C | |
| X | g.18584322A>G | CA412352449 | CDKL5 | c.523A>G (p.Arg175Gly) c.391A>G (p.Arg131Gly) n.775A>G | ClinVar dbSNP |
| X | g.18584322A>T | CA412352451 | CDKL5 | c.523A>T (p.Arg175Ter) c.391A>T (p.Arg131Ter) n.775A>T | |
| X | g.18584323G>A | CA412352455 | CDKL5 | c.524G>A (p.Arg175Lys) c.392G>A (p.Arg131Lys) n.776G>A | ClinVar |
| X | g.18584323G>C | CA412352453 | CDKL5 | c.524G>C (p.Arg175Thr) c.392G>C (p.Arg131Thr) n.776G>C | ClinVar dbSNP |
| X | g.18584323G= | CA2417968027 | CDKL5 | c.524G= (p.Arg175=) c.392G= (p.Arg131=) n.776G= | |
| X | g.18584323G>T | CA16621270 | CDKL5 | c.524G>T (p.Arg175Ile) c.392G>T (p.Arg131Ile) n.776G>T | ClinVar dbSNP |
| X | g.18584324A= | CA2417968028 | CDKL5 | c.525A= (p.Arg175=) c.393A= (p.Arg131=) n.777A= | |
| X | g.18584324A>C | CA412352458 | CDKL5 | c.525A>C (p.Arg175Ser) c.393A>C (p.Arg131Ser) n.777A>C | |
| X | g.18584324A>G | CA515470204 | CDKL5 | c.525A>G (p.Arg175=) c.393A>G (p.Arg131=) n.777A>G | |
| X | g.18584324A>T | CA121517 | CDKL5 | c.525A>T (p.Arg175Ser) c.393A>T (p.Arg131Ser) n.777A>T | ClinVar dbSNP |
| X | g.18584325T>A | CA294603 | CDKL5 | c.526T>A (p.Trp176Arg) c.394T>A (p.Trp132Arg) n.778T>A | ClinVar dbSNP |