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.18579937_18579950del | CA2580100385 | CDKL5 | c.372_385del (p.His124GlnfsTer2) c.240_253del (p.His80GlnfsTer2) n.624_637del | ClinVar |
| X | g.18579938_18579946del | CA2559228289 | CDKL5 | c.373_381del (p.Trp125_His127del) c.241_249del (p.Trp81_His83del) n.625_633del | |
| X | g.18579945A= | CA2417966754 | CDKL5 | c.380A= (p.His127=) c.248A= (p.His83=) n.632A= | |
| X | g.18579945A>C | CA412350310 | CDKL5 | c.380A>C (p.His127Pro) c.248A>C (p.His83Pro) n.632A>C | |
| X | g.18579945A>G | CA199281 | CDKL5 | c.380A>G (p.His127Arg) c.248A>G (p.His83Arg) n.632A>G | ClinVar dbSNP COSMIC |
| X | g.18579945A>T | CA412350314 | CDKL5 | c.380A>T (p.His127Leu) c.248A>T (p.His83Leu) n.632A>T | |
| X | g.18579946T>A | CA412350320 | CDKL5 | c.381T>A (p.His127Gln) c.249T>A (p.His83Gln) n.633T>A | |
| X | g.18579946T>C | CA515470115 | CDKL5 | c.381T>C (p.His127=) c.249T>C (p.His83=) n.633T>C | |
| X | g.18579946T>G | CA412350323 | CDKL5 | c.381T>G (p.His127Gln) c.249T>G (p.His83Gln) n.633T>G | |
| X | g.18579946_18579947delinsTA | CA2417966755 | CDKL5 | c.381_382delinsTA (p.His127=) c.249_250delinsTA (p.His83=) n.633_634delinsTA | |
| X | g.18579947A>C | CA412350326 | CDKL5 | c.382A>C (p.Lys128Gln) c.250A>C (p.Lys84Gln) n.634A>C | |
| X | g.18579947A>G | CA412350328 | CDKL5 | c.382A>G (p.Lys128Glu) c.250A>G (p.Lys84Glu) n.634A>G | |
| X | g.18579947A>T | CA412350337 | CDKL5 | c.382A>T (p.Lys128Ter) c.250A>T (p.Lys84Ter) n.634A>T | |
| X | g.18579948del | CA915950759 | CDKL5 | c.383del (p.Lys128ArgfsTer9) c.251del (p.Lys84ArgfsTer9) n.635del | ClinVar dbSNP |
| X | g.18579948A>C | CA412350340 | CDKL5 | c.383A>C (p.Lys128Thr) c.251A>C (p.Lys84Thr) n.635A>C | |
| X | g.18579948A>G | CA412350341 | CDKL5 | c.383A>G (p.Lys128Arg) c.251A>G (p.Lys84Arg) n.635A>G | |
| X | g.18579948A>T | CA412350344 | CDKL5 | c.383A>T (p.Lys128Met) c.251A>T (p.Lys84Met) n.635A>T | |
| X | g.18579949G>A | CA515470116 | CDKL5 | c.384G>A (p.Lys128=) c.252G>A (p.Lys84=) n.636G>A | |
| X | g.18579949G>C | CA412350345 | CDKL5 | c.384G>C (p.Lys128Asn) c.252G>C (p.Lys84Asn) n.636G>C | |
| X | g.18579949G>T | CA412350346 | CDKL5 | c.384G>T (p.Lys128Asn) c.252G>T (p.Lys84Asn) n.636G>T | |
| X | g.18579949_18579950delinsGA | CA2417966756 | CDKL5 | c.384_385delinsGA (p.Lys128=) c.252_253delinsGA (p.Lys84=) n.636_637delinsGA | |
| X | g.18579950A>C | CA412350348 | CDKL5 | c.385A>C (p.Asn129His) c.253A>C (p.Asn85His) n.637A>C | |
| X | g.18579950A>G | CA412350350 | CDKL5 | c.385A>G (p.Asn129Asp) c.253A>G (p.Asn85Asp) n.637A>G | COSMIC |
| X | g.18579950A>T | CA412350352 | CDKL5 | c.385A>T (p.Asn129Tyr) c.253A>T (p.Asn85Tyr) n.637A>T | |
| X | g.18579951del | CA915950760 | CDKL5 | c.386del (p.Asn129MetfsTer8) c.254del (p.Asn85MetfsTer8) n.638del | ClinVar dbSNP |
| X | g.18579951A>C | CA412350355 | CDKL5 | c.386A>C (p.Asn129Thr) c.254A>C (p.Asn85Thr) n.638A>C | |
| X | g.18579951A>G | CA412350359 | CDKL5 | c.386A>G (p.Asn129Ser) c.254A>G (p.Asn85Ser) n.638A>G | gnomAD v4 |
| X | g.18579951A>T | CA412350357 | CDKL5 | c.386A>T (p.Asn129Ile) c.254A>T (p.Asn85Ile) n.638A>T | |
| X | g.18579953_18579955del | CA2697552873 | CDKL5 | c.388_390del (p.Asp130del) c.256_258del (p.Asp86del) n.640_642del | ClinVar |
| X | g.18579952T>A | CA412350361 | CDKL5 | c.387T>A (p.Asn129Lys) c.255T>A (p.Asn85Lys) n.639T>A | |
| X | g.18579952T>C | CA515470117 | CDKL5 | c.387T>C (p.Asn129=) c.255T>C (p.Asn85=) n.639T>C | |
| X | g.18579952T>G | CA412350363 | CDKL5 | c.387T>G (p.Asn129Lys) c.255T>G (p.Asn85Lys) n.639T>G | |
| X | g.18579953G>A | CA412350365 | CDKL5 | c.388G>A (p.Asp130Asn) c.256G>A (p.Asp86Asn) n.640G>A | |
| X | g.18579953G>C | CA412350367 | CDKL5 | c.388G>C (p.Asp130His) c.256G>C (p.Asp86His) n.640G>C | |
| X | g.18579953G>T | CA412350369 | CDKL5 | c.388G>T (p.Asp130Tyr) c.256G>T (p.Asp86Tyr) n.640G>T | |
| X | g.18579953_18579959del | CA2520792542 | CDKL5 | c.388_394del (p.Asp130SerfsTer5) c.256_262del (p.Asp86SerfsTer5) n.640_646del | |
| X | g.18579954A>C | CA412350371 | CDKL5 | c.389A>C (p.Asp130Ala) c.257A>C (p.Asp86Ala) n.641A>C | |
| X | g.18579954A>G | CA412350374 | CDKL5 | c.389A>G (p.Asp130Gly) c.257A>G (p.Asp86Gly) n.641A>G | |
| X | g.18579954A>T | CA412350376 | CDKL5 | c.389A>T (p.Asp130Val) c.257A>T (p.Asp86Val) n.641A>T | |
| X | g.18579955T>A | CA412350378 | CDKL5 | c.390T>A (p.Asp130Glu) c.258T>A (p.Asp86Glu) n.642T>A | |
| X | g.18579955T>C | CA515470118 | CDKL5 | c.390T>C (p.Asp130=) c.258T>C (p.Asp86=) n.642T>C | |
| X | g.18579955T>G | CA412350379 | CDKL5 | c.390T>G (p.Asp130Glu) c.258T>G (p.Asp86Glu) n.642T>G | |
| X | g.18579956A>C | CA412350385 | CDKL5 | c.391A>C (p.Ile131Leu) c.259A>C (p.Ile87Leu) n.643A>C | |
| X | g.18579956A>G | CA412350383 | CDKL5 | c.391A>G (p.Ile131Val) c.259A>G (p.Ile87Val) n.643A>G | gnomAD v4 |
| X | g.18579956A>T | CA412350382 | CDKL5 | c.391A>T (p.Ile131Phe) c.259A>T (p.Ile87Phe) n.643A>T | |
| X | g.18579957T>A | CA412350391 | CDKL5 | c.392T>A (p.Ile131Asn) c.260T>A (p.Ile87Asn) n.644T>A | |
| X | g.18579957T>C | CA412350387 | CDKL5 | c.392T>C (p.Ile131Thr) c.260T>C (p.Ile87Thr) n.644T>C | ClinVar dbSNP |
| X | g.18579957T>G | CA412350389 | CDKL5 | c.392T>G (p.Ile131Ser) c.260T>G (p.Ile87Ser) n.644T>G | |
| X | g.18579958del | CA2695231286 | CDKL5 | c.393del (p.Ile131MetfsTer6) c.261del (p.Ile87MetfsTer6) n.645del | |
| X | g.18579958T>A | CA515470119 | CDKL5 | c.393T>A (p.Ile131=) c.261T>A (p.Ile87=) n.645T>A |