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.18579843_18579854delinsTTTAGAATATGC | CA2417966719 | CDKL5 | c.283-5_289delinsTTTAGAATATGC c.151-5_157delinsTTTAGAATATGC n.535-5_541delinsTTTAGAATATGC | |
| X | g.18579845_18579855del | CA199397 | CDKL5 | c.283-3_290del c.151-3_158del n.535-3_542del | ClinVar dbSNP |
| X | g.18579846A>C | CA412349702 | CDKL5 | c.283-2A>C (n.283-2A>C) c.151-2A>C (n.151-2A>C) n.535-2A>C | |
| X | g.18579846A>G | CA412349705 | CDKL5 | c.283-2A>G (n.283-2A>G) c.151-2A>G (n.151-2A>G) n.535-2A>G | |
| X | g.18579846A>T | CA412349706 | CDKL5 | c.283-2A>T (n.283-2A>T) c.151-2A>T (n.151-2A>T) n.535-2A>T | |
| X | g.18579847G>A | CA412349709 | CDKL5 | c.283-1G>A (n.283-1G>A) c.151-1G>A (n.151-1G>A) n.535-1G>A | |
| X | g.18579847G>C | CA412349710 | CDKL5 | c.283-1G>C (n.283-1G>C) c.151-1G>C (n.151-1G>C) n.535-1G>C | |
| X | g.18579847G>T | CA412349712 | CDKL5 | c.283-1G>T (n.283-1G>T) c.151-1G>T (n.151-1G>T) n.535-1G>T | |
| X | g.18579848A>C | CA412349715 | CDKL5 | c.283A>C (p.Asn95His) c.151A>C (p.Asn51His) n.535A>C | |
| X | g.18579848A>G | CA412349716 | CDKL5 | c.283A>G (p.Asn95Asp) c.151A>G (p.Asn51Asp) n.535A>G | |
| X | g.18579848A>T | CA412349718 | CDKL5 | c.283A>T (p.Asn95Tyr) c.151A>T (p.Asn51Tyr) n.535A>T | |
| X | g.18579849A>C | CA412349720 | CDKL5 | c.284A>C (p.Asn95Thr) c.152A>C (p.Asn51Thr) n.536A>C | |
| X | g.18579849A>G | CA412349721 | CDKL5 | c.284A>G (p.Asn95Ser) c.152A>G (p.Asn51Ser) n.536A>G | |
| X | g.18579849A>T | CA412349722 | CDKL5 | c.284A>T (p.Asn95Ile) c.152A>T (p.Asn51Ile) n.536A>T | |
| X | g.18579850T>A | CA412349726 | CDKL5 | c.285T>A (p.Asn95Lys) c.153T>A (p.Asn51Lys) n.537T>A | |
| X | g.18579850T>C | CA515470064 | CDKL5 | c.285T>C (p.Asn95=) c.153T>C (p.Asn51=) n.537T>C | |
| X | g.18579850T>G | CA412349724 | CDKL5 | c.285T>G (p.Asn95Lys) c.153T>G (p.Asn51Lys) n.537T>G | |
| X | g.18579851A>C | CA412349729 | CDKL5 | c.286A>C (p.Met96Leu) c.154A>C (p.Met52Leu) n.538A>C | |
| X | g.18579851A>G | CA412349731 | CDKL5 | c.286A>G (p.Met96Val) c.154A>G (p.Met52Val) n.538A>G | |
| X | g.18579851A>T | CA412349734 | CDKL5 | c.286A>T (p.Met96Leu) c.154A>T (p.Met52Leu) n.538A>T | |
| X | g.18579852T>A | CA412349738 | CDKL5 | c.287T>A (p.Met96Lys) c.155T>A (p.Met52Lys) n.539T>A | |
| X | g.18579852T>C | CA412349741 | CDKL5 | c.287T>C (p.Met96Thr) c.155T>C (p.Met52Thr) n.539T>C | |
| X | g.18579852T>G | CA412349743 | CDKL5 | c.287T>G (p.Met96Arg) c.155T>G (p.Met52Arg) n.539T>G | |
| X | g.18579853G>A | CA412349747 | CDKL5 | c.288G>A (p.Met96Ile) c.156G>A (p.Met52Ile) n.540G>A | |
| X | g.18579853G>C | CA412349750 | CDKL5 | c.288G>C (p.Met96Ile) c.156G>C (p.Met52Ile) n.540G>C | |
| X | g.18579853G>T | CA412349753 | CDKL5 | c.288G>T (p.Met96Ile) c.156G>T (p.Met52Ile) n.540G>T | |
| X | g.18579854C>A | CA412349756 | CDKL5 | c.289C>A (p.Leu97Ile) c.157C>A (p.Leu53Ile) n.541C>A | |
| X | g.18579854C>G | CA412349758 | CDKL5 | c.289C>G (p.Leu97Val) c.157C>G (p.Leu53Val) n.541C>G | |
| X | g.18579854C>T | CA412349760 | CDKL5 | c.289C>T (p.Leu97Phe) c.157C>T (p.Leu53Phe) n.541C>T | gnomAD v4 |
| X | g.18579855T>A | CA412349772 | CDKL5 | c.290T>A (p.Leu97His) c.158T>A (p.Leu53His) n.542T>A | |
| X | g.18579855T>C | CA412349776 | CDKL5 | c.290T>C (p.Leu97Pro) c.158T>C (p.Leu53Pro) n.542T>C | ClinVar dbSNP |
| X | g.18579855T>G | CA412349770 | CDKL5 | c.290T>G (p.Leu97Arg) c.158T>G (p.Leu53Arg) n.542T>G | |
| X | g.18579855T= | CA2417966722 | CDKL5 | c.290T= (p.Leu97=) c.158T= (p.Leu53=) n.542T= | |
| X | g.18579856C>A | CA515470066 | CDKL5 | c.291C>A (p.Leu97=) c.159C>A (p.Leu53=) n.543C>A | gnomAD v4 |
| X | g.18579856C= | CA2417966723 | CDKL5 | c.291C= (p.Leu97=) c.159C= (p.Leu53=) n.543C= | |
| X | g.18579856C>G | CA515470065 | CDKL5 | c.291C>G (p.Leu97=) c.159C>G (p.Leu53=) n.543C>G | ClinVar dbSNP gnomAD v4 |
| X | g.18579856C>T | CA10360246 | CDKL5 | c.291C>T (p.Leu97=) c.159C>T (p.Leu53=) n.543C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579857G>A | CA412349784 | CDKL5 | c.292G>A (p.Glu98Lys) c.160G>A (p.Glu54Lys) n.544G>A | gnomAD v4 COSMIC |
| X | g.18579857G>C | CA412349787 | CDKL5 | c.292G>C (p.Glu98Gln) c.160G>C (p.Glu54Gln) n.544G>C | |
| X | g.18579857G>T | CA412349790 | CDKL5 | c.292G>T (p.Glu98Ter) c.160G>T (p.Glu54Ter) n.544G>T | ClinVar dbSNP gnomAD v4 |
| X | g.18579858A>C | CA412349799 | CDKL5 | c.293A>C (p.Glu98Ala) c.161A>C (p.Glu54Ala) n.545A>C | |
| X | g.18579858A>G | CA412349796 | CDKL5 | c.293A>G (p.Glu98Gly) c.161A>G (p.Glu54Gly) n.545A>G | |
| X | g.18579858A>T | CA412349793 | CDKL5 | c.293A>T (p.Glu98Val) c.161A>T (p.Glu54Val) n.545A>T | |
| X | g.18579859A>C | CA412349802 | CDKL5 | c.294A>C (p.Glu98Asp) c.162A>C (p.Glu54Asp) n.546A>C | |
| X | g.18579859A>G | CA515470067 | CDKL5 | c.294A>G (p.Glu98=) c.162A>G (p.Glu54=) n.546A>G | |
| X | g.18579859A>T | CA412349805 | CDKL5 | c.294A>T (p.Glu98Asp) c.162A>T (p.Glu54Asp) n.546A>T | |
| X | g.18579860T>A | CA412349809 | CDKL5 | c.295T>A (p.Leu99Met) c.163T>A (p.Leu55Met) n.547T>A | |
| X | g.18579860T>C | CA515470068 | CDKL5 | c.295T>C (p.Leu99=) c.163T>C (p.Leu55=) n.547T>C | ClinVar dbSNP |
| X | g.18579860T>G | CA412349811 | CDKL5 | c.295T>G (p.Leu99Val) c.163T>G (p.Leu55Val) n.547T>G | |
| X | g.18579861T>A | CA412349816 | CDKL5 | c.296T>A (p.Leu99Ter) c.164T>A (p.Leu55Ter) n.548T>A |