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.18575356_18575364del | CA645613868 | CDKL5 | c.148_156del c.16_24del n.400_408del | COSMIC |
| X | g.18575353G>A | CA171613 | CDKL5 | c.146-1G>A (n.146-1G>A) c.14-1G>A (n.14-1G>A) n.398-1G>A | ClinVar dbSNP |
| X | g.18575353G>C | CA412348444 | CDKL5 | c.146-1G>C (n.146-1G>C) c.14-1G>C (n.14-1G>C) n.398-1G>C | |
| X | g.18575353G= | CA2417965291 | CDKL5 | c.146-1G= (n.146-1G=) c.14-1G= (n.14-1G=) n.398-1G= | |
| X | g.18575353G>T | CA412348442 | CDKL5 | c.146-1G>T (n.146-1G>T) c.14-1G>T (n.14-1G>T) n.398-1G>T | ClinVar |
| X | g.18575354A>C | CA412348446 | CDKL5 | c.146A>C (p.Glu49Ala) c.14A>C (p.Glu5Ala) n.398A>C | |
| X | g.18575354A>G | CA412348448 | CDKL5 | c.146A>G (p.Glu49Gly) c.14A>G (p.Glu5Gly) n.398A>G | |
| X | g.18575354A>T | CA412348450 | CDKL5 | c.146A>T (p.Glu49Val) c.14A>T (p.Glu5Val) n.398A>T | |
| X | g.18575355A>C | CA412348452 | CDKL5 | c.147A>C (p.Glu49Asp) c.15A>C (p.Glu5Asp) n.399A>C | |
| X | g.18575355A>G | CA515469980 | CDKL5 | c.147A>G (p.Glu49=) c.15A>G (p.Glu5=) n.399A>G | |
| X | g.18575355A>T | CA412348454 | CDKL5 | c.147A>T (p.Glu49Asp) c.15A>T (p.Glu5Asp) n.399A>T | |
| X | g.18575356A>C | CA412348456 | CDKL5 | c.148A>C (p.Asn50His) c.16A>C (p.Asn6His) n.400A>C | |
| X | g.18575356A>G | CA412348457 | CDKL5 | c.148A>G (p.Asn50Asp) c.16A>G (p.Asn6Asp) n.400A>G | |
| X | g.18575356A>T | CA412348459 | CDKL5 | c.148A>T (p.Asn50Tyr) c.16A>T (p.Asn6Tyr) n.400A>T | |
| X | g.18575357A>C | CA412348462 | CDKL5 | c.149A>C (p.Asn50Thr) c.17A>C (p.Asn6Thr) n.401A>C | |
| X | g.18575357A>G | CA412348463 | CDKL5 | c.149A>G (p.Asn50Ser) c.17A>G (p.Asn6Ser) n.401A>G | |
| X | g.18575357A>T | CA412348465 | CDKL5 | c.149A>T (p.Asn50Ile) c.17A>T (p.Asn6Ile) n.401A>T | |
| X | g.18575358T>A | CA412348469 | CDKL5 | c.150T>A (p.Asn50Lys) c.18T>A (p.Asn6Lys) n.402T>A | |
| X | g.18575358T>C | CA515469981 | CDKL5 | c.150T>C (p.Asn50=) c.18T>C (p.Asn6=) n.402T>C | |
| X | g.18575358T>G | CA412348467 | CDKL5 | c.150T>G (p.Asn50Lys) c.18T>G (p.Asn6Lys) n.402T>G | |
| X | g.18575359G>A | CA412348471 | CDKL5 | c.151G>A (p.Glu51Lys) c.19G>A (p.Glu7Lys) n.403G>A | |
| X | g.18575359G>C | CA412348475 | CDKL5 | c.151G>C (p.Glu51Gln) c.19G>C (p.Glu7Gln) n.403G>C | |
| X | g.18575359G>T | CA412348473 | CDKL5 | c.151G>T (p.Glu51Ter) c.19G>T (p.Glu7Ter) n.403G>T | |
| X | g.18575360A>C | CA412348477 | CDKL5 | c.152A>C (p.Glu51Ala) c.20A>C (p.Glu7Ala) n.404A>C | |
| X | g.18575360A>G | CA412348479 | CDKL5 | c.152A>G (p.Glu51Gly) c.20A>G (p.Glu7Gly) n.404A>G | |
| X | g.18575360A>T | CA412348481 | CDKL5 | c.152A>T (p.Glu51Val) c.20A>T (p.Glu7Val) n.404A>T | |
| X | g.18575361A>C | CA412348482 | CDKL5 | c.153A>C (p.Glu51Asp) c.21A>C (p.Glu7Asp) n.405A>C | |
| X | g.18575361A>G | CA515469982 | CDKL5 | c.153A>G (p.Glu51=) c.21A>G (p.Glu7=) n.405A>G | |
| X | g.18575361A>T | CA412348484 | CDKL5 | c.153A>T (p.Glu51Asp) c.21A>T (p.Glu7Asp) n.405A>T | |
| X | g.18575362G>A | CA412348486 | CDKL5 | c.154G>A (p.Glu52Lys) c.22G>A (p.Glu8Lys) n.406G>A | |
| X | g.18575362G>C | CA412348488 | CDKL5 | c.154G>C (p.Glu52Gln) c.22G>C (p.Glu8Gln) n.406G>C | COSMIC |
| X | g.18575362G= | CA2417965292 | CDKL5 | c.154G= (p.Glu52=) c.22G= (p.Glu8=) n.406G= | |
| X | g.18575362G>T | CA412348490 | CDKL5 | c.154G>T (p.Glu52Ter) c.22G>T (p.Glu8Ter) n.406G>T | ClinVar dbSNP |
| X | g.18575363A>C | CA412348492 | CDKL5 | c.155A>C (p.Glu52Ala) c.23A>C (p.Glu8Ala) n.407A>C | |
| X | g.18575363A>G | CA412348494 | CDKL5 | c.155A>G (p.Glu52Gly) c.23A>G (p.Glu8Gly) n.407A>G | |
| X | g.18575363A>T | CA412348496 | CDKL5 | c.155A>T (p.Glu52Val) c.23A>T (p.Glu8Val) n.407A>T | |
| X | g.18575363_18575364del | CA2573055181 | CDKL5 | c.155_156del (p.Glu52GlyfsTer10) c.155_156del (p.Glu52GlyfsTer?) c.23_24del (p.Glu8GlyfsTer10) n.407_408del | ClinVar dbSNP |
| X | g.18575364A>C | CA412348498 | CDKL5 | c.156A>C (p.Glu52Asp) c.24A>C (p.Glu8Asp) n.408A>C | |
| X | g.18575364A>G | CA515469983 | CDKL5 | c.156A>G (p.Glu52=) c.24A>G (p.Glu8=) n.408A>G | |
| X | g.18575364A>T | CA412348499 | CDKL5 | c.156A>T (p.Glu52Asp) c.24A>T (p.Glu8Asp) n.408A>T | |
| X | g.18575365G>A | CA412348504 | CDKL5 | c.157G>A (p.Val53Ile) c.25G>A (p.Val9Ile) n.409G>A | |
| X | g.18575365G>C | CA412348501 | CDKL5 | c.157G>C (p.Val53Leu) c.25G>C (p.Val9Leu) n.409G>C | |
| X | g.18575365G>T | CA412348502 | CDKL5 | c.157G>T (p.Val53Phe) c.25G>T (p.Val9Phe) n.409G>T | |
| X | g.18575366T>A | CA412348506 | CDKL5 | c.158T>A (p.Val53Asp) c.26T>A (p.Val9Asp) n.410T>A | gnomAD v4 |
| X | g.18575366T>C | CA412348508 | CDKL5 | c.158T>C (p.Val53Ala) c.26T>C (p.Val9Ala) n.410T>C | |
| X | g.18575366T>G | CA412348510 | CDKL5 | c.158T>G (p.Val53Gly) c.26T>G (p.Val9Gly) n.410T>G | |
| X | g.18575367C>A | CA515469984 | CDKL5 | c.159C>A (p.Val53=) c.27C>A (p.Val9=) n.411C>A | gnomAD v4 |
| X | g.18575367C>G | CA515469985 | CDKL5 | c.159C>G (p.Val53=) c.27C>G (p.Val9=) n.411C>G | |
| X | g.18575367C>T | CA515469986 | CDKL5 | c.159C>T (p.Val53=) c.27C>T (p.Val9=) n.411C>T | |
| X | g.18575367_18575371delinsCAAAG | CA2417965293 | CDKL5 | c.159_163delinsCAAAG (p.Val53=) c.27_31delinsCAAAG (p.Val9=) n.411_415delinsCAAAG |