OUTAGE/INTERRUPTION NOTICE:2024-06-14T21:00:00-0400 — 2024-06-17T08:00:00-0400
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
The first of two essential broad service outages will occur over the weekend.
The outage is expected to be shorter than the indicated time, but due to its scope and importance, a longer window is planned.
Affected ClinGen services include the UIs and APIs of the Allele Registry, ACI, Cspec, Erepo, LDH
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18575322T>C | CA2693221229 | CDKL5 | c.146-32T>C (n.146-32T>C) c.14-32T>C (n.14-32T>C) n.398-32T>C | gnomAD v4 |
| X | g.18575324T>G | CA10360220 | CDKL5 | c.146-30T>G (n.146-30T>G) c.14-30T>G (n.14-30T>G) n.398-30T>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18575324T= | CA2417965277 | CDKL5 | c.146-30T= (n.146-30T=) c.14-30T= (n.14-30T=) n.398-30T= | |
| X | g.18575326A>T | CA2693221230 | CDKL5 | c.146-28A>T (n.146-28A>T) c.14-28A>T (n.14-28A>T) n.398-28A>T | gnomAD v4 |
| X | g.18575327G>A | CA2693221231 | CDKL5 | c.146-27G>A (n.146-27G>A) c.14-27G>A (n.14-27G>A) n.398-27G>A | gnomAD v4 |
| X | g.18575327G>C | CA2693221232 | CDKL5 | c.146-27G>C (n.146-27G>C) c.14-27G>C (n.14-27G>C) n.398-27G>C | gnomAD v4 |
| X | g.18575327G>T | CA2819900294 | CDKL5 | c.146-27G>T (n.146-27G>T) c.14-27G>T (n.14-27G>T) n.398-27G>T | |
| X | g.18575329C>A | CA2417965279 | CDKL5 | c.146-25C>A (n.146-25C>A) c.14-25C>A (n.14-25C>A) n.398-25C>A | dbSNP gnomAD v4 |
| X | g.18575329C= | CA2417965278 | CDKL5 | c.146-25C= (n.146-25C=) c.14-25C= (n.14-25C=) n.398-25C= | |
| X | g.18575329C>G | CA2579562756 | CDKL5 | c.146-25C>G (n.146-25C>G) c.14-25C>G (n.14-25C>G) n.398-25C>G | |
| X | g.18575329C>T | CA2819900296 | CDKL5 | c.146-25C>T (n.146-25C>T) c.14-25C>T (n.14-25C>T) n.398-25C>T | |
| X | g.18575331C>A | CA2819900299 | CDKL5 | c.146-23C>A (n.146-23C>A) c.14-23C>A (n.14-23C>A) n.398-23C>A | |
| X | g.18575331C= | CA2417965280 | CDKL5 | c.146-23C= (n.146-23C=) c.14-23C= (n.14-23C=) n.398-23C= | |
| X | g.18575331C>G | CA326982297 | CDKL5 | c.146-23C>G (n.146-23C>G) c.14-23C>G (n.14-23C>G) n.398-23C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18575331C>T | CA10360221 | CDKL5 | c.146-23C>T (n.146-23C>T) c.14-23C>T (n.14-23C>T) n.398-23C>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18575332T>G | CA2579562757 | CDKL5 | c.146-22T>G (n.146-22T>G) c.14-22T>G (n.14-22T>G) n.398-22T>G | |
| X | g.18575333_18575336delinsTCAC | CA2417965281 | CDKL5 | c.146-21_146-18delinsTCAC (n.146-21_146-18delinsTCAC) c.14-21_14-18delinsTCAC (n.14-21_14-18delinsTCAC) n.398-21_398-18delinsTCAC | |
| X | g.18575334C>A | CA2693221233 | CDKL5 | c.146-20C>A (n.146-20C>A) c.14-20C>A (n.14-20C>A) n.398-20C>A | gnomAD v4 |
| X | g.18575334C= | CA2417965282 | CDKL5 | c.146-20C= (n.146-20C=) c.14-20C= (n.14-20C=) n.398-20C= | |
| X | g.18575334C>T | CA2417965283 | CDKL5 | c.146-20C>T (n.146-20C>T) c.14-20C>T (n.14-20C>T) n.398-20C>T | dbSNP gnomAD v4 |
| X | g.18575336_18575338del | CA640508904 | CDKL5 | c.146-18_146-16del (n.146-18_146-16del) c.14-18_14-16del (n.14-18_14-16del) n.398-18_398-16del | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18575335A= | CA2417965284 | CDKL5 | c.146-19A= (n.146-19A=) c.14-19A= (n.14-19A=) n.398-19A= | |
| X | g.18575335A>G | CA16608851 | CDKL5 | c.146-19A>G (n.146-19A>G) c.14-19A>G (n.14-19A>G) n.398-19A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18575335dup | CA2693221234 | CDKL5 | c.146-19dup (n.146-19dup) c.14-19dup (n.14-19dup) n.398-19dup | gnomAD v4 |
| X | g.18575337C>A | CA2693221235 | CDKL5 | c.146-17C>A (n.146-17C>A) c.14-17C>A (n.14-17C>A) n.398-17C>A | gnomAD v4 |
| X | g.18575338del | CA2693221236 | CDKL5 | c.146-16del (n.146-16del) c.14-16del (n.14-16del) n.398-16del | gnomAD v4 |
| X | g.18575338A= | CA2417965285 | CDKL5 | c.146-16A= (n.146-16A=) c.14-16A= (n.14-16A=) n.398-16A= | |
| X | g.18575338A>G | CA873687663 | CDKL5 | c.146-16A>G (n.146-16A>G) c.14-16A>G (n.14-16A>G) n.398-16A>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18575339T>C | CA2693221237 | CDKL5 | c.146-15T>C (n.146-15T>C) c.14-15T>C (n.14-15T>C) n.398-15T>C | ClinVar gnomAD v4 |
| X | g.18575340T>G | CA2417965287 | CDKL5 | c.146-14T>G (n.146-14T>G) c.14-14T>G (n.14-14T>G) n.398-14T>G | ClinVar dbSNP gnomAD v4 |
| X | g.18575340T= | CA2417965286 | CDKL5 | c.146-14T= (n.146-14T=) c.14-14T= (n.14-14T=) n.398-14T= | |
| X | g.18575341G>A | CA2693221238 | CDKL5 | c.146-13G>A (n.146-13G>A) c.14-13G>A (n.14-13G>A) n.398-13G>A | gnomAD v4 |
| X | g.18575341G= | CA2417965288 | CDKL5 | c.146-13G= (n.146-13G=) c.14-13G= (n.14-13G=) n.398-13G= | |
| X | g.18575341G>T | CA2693221239 | CDKL5 | c.146-13G>T (n.146-13G>T) c.14-13G>T (n.14-13G>T) n.398-13G>T | gnomAD v4 |
| X | g.18575342T>A | CA2693221240 | CDKL5 | c.146-12T>A (n.146-12T>A) c.14-12T>A (n.14-12T>A) n.398-12T>A | gnomAD v4 |
| X | g.18575342T>C | CA640508905 | CDKL5 | c.146-12T>C (n.146-12T>C) c.14-12T>C (n.14-12T>C) n.398-12T>C | dbSNP gnomAD v2 |
| X | g.18575342T= | CA2417965289 | CDKL5 | c.146-12T= (n.146-12T=) c.14-12T= (n.14-12T=) n.398-12T= | |
| X | g.18575344dup | CA10360222 | CDKL5 | c.146-10dup (n.146-10dup) c.14-10dup (n.14-10dup) n.398-10dup | dbSNP ExAC gnomAD v2 |
| X | g.18575343T>G | CA2499226531 | CDKL5 | c.146-11T>G (n.146-11T>G) c.14-11T>G (n.14-11T>G) n.398-11T>G | ClinVar dbSNP gnomAD v4 |
| X | g.18575345A>G | CA2693221241 | CDKL5 | c.146-9A>G (n.146-9A>G) c.14-9A>G (n.14-9A>G) n.398-9A>G | gnomAD v4 |
| X | g.18575346C>A | CA2693221242 | CDKL5 | c.146-8C>A (n.146-8C>A) c.14-8C>A (n.14-8C>A) n.398-8C>A | gnomAD v4 |
| X | g.18575346C= | CA2417965290 | CDKL5 | c.146-8C= (n.146-8C=) c.14-8C= (n.14-8C=) n.398-8C= | |
| X | g.18575346C>T | CA640508906 | CDKL5 | c.146-8C>T (n.146-8C>T) c.14-8C>T (n.14-8C>T) n.398-8C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18575347A>G | CA2740092038 | CDKL5 | c.146-7A>G (n.146-7A>G) c.14-7A>G (n.14-7A>G) n.398-7A>G | ClinVar |
| X | g.18575348T>G | CA2695231274 | CDKL5 | c.146-6T>G (n.146-6T>G) c.14-6T>G (n.14-6T>G) n.398-6T>G | |
| X | g.18575352A>C | CA412348436 | CDKL5 | c.146-2A>C (n.146-2A>C) c.14-2A>C (n.14-2A>C) n.398-2A>C | ClinVar dbSNP |
| X | g.18575352A>G | CA412348437 | CDKL5 | c.146-2A>G (n.146-2A>G) c.14-2A>G (n.14-2A>G) n.398-2A>G | ClinVar |
| X | g.18575352A>T | CA412348439 | CDKL5 | c.146-2A>T (n.146-2A>T) c.14-2A>T (n.14-2A>T) n.398-2A>T | |
| 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 | |
| X | g.18575368A>C | CA412348513 | CDKL5 | c.160A>C (p.Lys54Gln) c.28A>C (p.Lys10Gln) n.412A>C | |
| X | g.18575368A>G | CA412348515 | CDKL5 | c.160A>G (p.Lys54Glu) c.28A>G (p.Lys10Glu) n.412A>G | |
| X | g.18575368A>T | CA412348516 | CDKL5 | c.160A>T (p.Lys54Ter) c.28A>T (p.Lys10Ter) n.412A>T | |
| X | g.18575371_18575374del | CA170451 | CDKL5 | c.163_166del (p.Glu55ArgfsTer20) c.163_166del (p.Glu55ArgfsTer?) c.31_34del (p.Glu11ArgfsTer20) n.415_418del | ClinVar dbSNP |
| X | g.18575369A>C | CA412348520 | CDKL5 | c.161A>C (p.Lys54Thr) c.29A>C (p.Lys10Thr) n.413A>C | |
| X | g.18575369A>G | CA412348521 | CDKL5 | c.161A>G (p.Lys54Arg) c.29A>G (p.Lys10Arg) n.413A>G | |
| X | g.18575369A>T | CA412348523 | CDKL5 | c.161A>T (p.Lys54Ile) c.29A>T (p.Lys10Ile) n.413A>T | |
| X | g.18575370A>C | CA412348525 | CDKL5 | c.162A>C (p.Lys54Asn) c.30A>C (p.Lys10Asn) n.414A>C | |
| X | g.18575370A>G | CA515469987 | CDKL5 | c.162A>G (p.Lys54=) c.30A>G (p.Lys10=) n.414A>G | |
| X | g.18575370A>T | CA412348527 | CDKL5 | c.162A>T (p.Lys54Asn) c.30A>T (p.Lys10Asn) n.414A>T | |
| X | g.18575371G>A | CA412348531 | CDKL5 | c.163G>A (p.Glu55Lys) c.31G>A (p.Glu11Lys) n.415G>A | |
| X | g.18575371G>C | CA412348529 | CDKL5 | c.163G>C (p.Glu55Gln) c.31G>C (p.Glu11Gln) n.415G>C | |
| X | g.18575371G>T | CA412348533 | CDKL5 | c.163G>T (p.Glu55Ter) c.31G>T (p.Glu11Ter) n.415G>T | ClinVar |
| X | g.18575372A>C | CA412348534 | CDKL5 | c.164A>C (p.Glu55Ala) c.32A>C (p.Glu11Ala) n.416A>C | |
| X | g.18575372A>G | CA412348535 | CDKL5 | c.164A>G (p.Glu55Gly) c.32A>G (p.Glu11Gly) n.416A>G | |
| X | g.18575372A>T | CA412348537 | CDKL5 | c.164A>T (p.Glu55Val) c.32A>T (p.Glu11Val) n.416A>T | |
| X | g.18575373A>C | CA412348540 | CDKL5 | c.165A>C (p.Glu55Asp) c.33A>C (p.Glu11Asp) n.417A>C | gnomAD v4 |
| X | g.18575373A>G | CA515469988 | CDKL5 | c.165A>G (p.Glu55=) c.33A>G (p.Glu11=) n.417A>G | gnomAD v4 COSMIC |
| X | g.18575373A>T | CA412348541 | CDKL5 | c.165A>T (p.Glu55Asp) c.33A>T (p.Glu11Asp) n.417A>T | |
| X | g.18575374A>C | CA412348543 | CDKL5 | c.166A>C (p.Thr56Pro) c.34A>C (p.Thr12Pro) n.418A>C | |
| X | g.18575374A>G | CA412348545 | CDKL5 | c.166A>G (p.Thr56Ala) c.34A>G (p.Thr12Ala) n.418A>G | |
| X | g.18575374A>T | CA412348547 | CDKL5 | c.166A>T (p.Thr56Ser) c.34A>T (p.Thr12Ser) n.418A>T | |
| X | g.18575378_18575385del | CA2580100389 | CDKL5 | c.170_177del (p.Thr57ArgfsTer3) c.170_177del (p.Thr57ArgfsTer?) c.38_45del (p.Thr13ArgfsTer3) n.422_429del | ClinVar |
| X | g.18575375C>A | CA412348549 | CDKL5 | c.167C>A (p.Thr56Lys) c.35C>A (p.Thr12Lys) n.419C>A | |
| X | g.18575375C= | CA2417965294 | CDKL5 | c.167C= (p.Thr56=) c.35C= (p.Thr12=) n.419C= | |
| X | g.18575375C>G | CA412348551 | CDKL5 | c.167C>G (p.Thr56Arg) c.35C>G (p.Thr12Arg) n.419C>G | |
| X | g.18575375C>T | CA10360223 | CDKL5 | c.167C>T (p.Thr56Met) c.35C>T (p.Thr12Met) n.419C>T | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| X | g.18575375_18575376del | CA2695231275 | CDKL5 | c.167_168del (p.Thr56AsnfsTer6) c.167_168del (p.Thr56AsnfsTer?) c.35_36del (p.Thr12AsnfsTer6) n.419_420del | |
| X | g.18575376G>A | CA10360224 | CDKL5 | c.168G>A (p.Thr56=) c.36G>A (p.Thr12=) n.420G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18575376G>C | CA515469990 | CDKL5 | c.168G>C (p.Thr56=) c.36G>C (p.Thr12=) n.420G>C | |
| X | g.18575376G= | CA2417965295 | CDKL5 | c.168G= (p.Thr56=) c.36G= (p.Thr12=) n.420G= | |
| X | g.18575376G>T | CA515469989 | CDKL5 | c.168G>T (p.Thr56=) c.36G>T (p.Thr12=) n.420G>T | gnomAD v4 |
| X | g.18575377A>C | CA412348558 | CDKL5 | c.169A>C (p.Thr57Pro) c.37A>C (p.Thr13Pro) n.421A>C | |
| X | g.18575377A>G | CA412348556 | CDKL5 | c.169A>G (p.Thr57Ala) c.37A>G (p.Thr13Ala) n.421A>G | |
| X | g.18575377A>T | CA412348557 | CDKL5 | c.169A>T (p.Thr57Ser) c.37A>T (p.Thr13Ser) n.421A>T | |
| X | g.18575378C>A | CA412348561 | CDKL5 | c.170C>A (p.Thr57Asn) c.38C>A (p.Thr13Asn) n.422C>A | |
| X | g.18575378C>G | CA412348562 | CDKL5 | c.170C>G (p.Thr57Ser) c.38C>G (p.Thr13Ser) n.422C>G | dbSNP |
| X | g.18575378C>T | CA412348564 | CDKL5 | c.170C>T (p.Thr57Ile) c.38C>T (p.Thr13Ile) n.422C>T | |
| X | g.18575379T>A | CA515469991 | CDKL5 | c.171T>A (p.Thr57=) c.39T>A (p.Thr13=) n.423T>A | |
| X | g.18575379T>C | CA515469992 | CDKL5 | c.171T>C (p.Thr57=) c.39T>C (p.Thr13=) n.423T>C | |
| X | g.18575379T>G | CA515469993 | CDKL5 | c.171T>G (p.Thr57=) c.39T>G (p.Thr13=) n.423T>G | |
| X | g.18575380T>A | CA412348566 | CDKL5 | c.172T>A (p.Leu58Ile) c.40T>A (p.Leu14Ile) n.424T>A | |
| X | g.18575380T>C | CA515469994 | CDKL5 | c.172T>C (p.Leu58=) c.40T>C (p.Leu14=) n.424T>C | |
| X | g.18575380T>G | CA412348568 | CDKL5 | c.172T>G (p.Leu58Val) c.40T>G (p.Leu14Val) n.424T>G | |
| X | g.18575381T>A | CA10576343 | CDKL5 | c.173T>A (p.Leu58Ter) c.41T>A (p.Leu14Ter) n.425T>A | ClinVar dbSNP |
| X | g.18575381T>C | CA412348570 | CDKL5 | c.173T>C (p.Leu58Ser) c.41T>C (p.Leu14Ser) n.425T>C | |
| X | g.18575381T>G | CA412348572 | CDKL5 | c.173T>G (p.Leu58Ter) c.41T>G (p.Leu14Ter) n.425T>G | |
| X | g.18575381T= | CA2417965296 | CDKL5 | c.173T= (p.Leu58=) c.41T= (p.Leu14=) n.425T= | |
| X | g.18575382del | CA2579562758 | CDKL5 | c.174del (p.Leu58PhefsTer18) c.174del (p.Leu58PhefsTer?) c.42del (p.Leu14PhefsTer18) n.426del | |
| X | g.18575382A>C | CA412348575 | CDKL5 | c.174A>C (p.Leu58Phe) c.42A>C (p.Leu14Phe) n.426A>C | |
| X | g.18575382A>G | CA515469995 | CDKL5 | c.174A>G (p.Leu58=) c.42A>G (p.Leu14=) n.426A>G | |
| X | g.18575382A>T | CA412348576 | CDKL5 | c.174A>T (p.Leu58Phe) c.42A>T (p.Leu14Phe) n.426A>T | |
| X | g.18575383C>A | CA515469996 | CDKL5 | c.175C>A (p.Arg59=) c.43C>A (p.Arg15=) n.427C>A | |
| X | g.18575383C= | CA2417965297 | CDKL5 | c.175C= (p.Arg59=) c.43C= (p.Arg15=) n.427C= | |
| X | g.18575383C>G | CA412348578 | CDKL5 | c.175C>G (p.Arg59Gly) c.43C>G (p.Arg15Gly) n.427C>G | |
| X | g.18575383C>T | CA171618 | CDKL5 | c.175C>T (p.Arg59Ter) c.43C>T (p.Arg15Ter) n.427C>T | ClinVar dbSNP COSMIC |
| X | g.18575384G>A | CA412348584 | CDKL5 | c.176G>A (p.Arg59Gln) c.44G>A (p.Arg15Gln) n.428G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| X | g.18575384G>C | CA412348582 | CDKL5 | c.176G>C (p.Arg59Pro) c.44G>C (p.Arg15Pro) n.428G>C | ClinVar dbSNP |
| X | g.18575384G= | CA2417965298 | CDKL5 | c.176G= (p.Arg59=) c.44G= (p.Arg15=) n.428G= | |
| X | g.18575384G>T | CA412348581 | CDKL5 | c.176G>T (p.Arg59Leu) c.44G>T (p.Arg15Leu) n.428G>T | |
| X | g.18575385A>C | CA515469997 | CDKL5 | c.177A>C (p.Arg59=) c.45A>C (p.Arg15=) n.429A>C | |
| X | g.18575385A>G | CA515469998 | CDKL5 | c.177A>G (p.Arg59=) c.45A>G (p.Arg15=) n.429A>G | |
| X | g.18575385A>T | CA515469999 | CDKL5 | c.177A>T (p.Arg59=) c.45A>T (p.Arg15=) n.429A>T | |
| X | g.18575386G>A | CA412348586 | CDKL5 | c.178G>A (p.Glu60Lys) c.46G>A (p.Glu16Lys) n.430G>A | ClinVar dbSNP |
| X | g.18575386G>C | CA412348590 | CDKL5 | c.178G>C (p.Glu60Gln) c.46G>C (p.Glu16Gln) n.430G>C | ClinVar dbSNP |
| X | g.18575386G= | CA2417965299 | CDKL5 | c.178G= (p.Glu60=) c.46G= (p.Glu16=) n.430G= | |
| X | g.18575386G>T | CA412348588 | CDKL5 | c.178G>T (p.Glu60Ter) c.46G>T (p.Glu16Ter) n.430G>T | |
| X | g.18575387A>C | CA412348592 | CDKL5 | c.179A>C (p.Glu60Ala) c.47A>C (p.Glu16Ala) n.431A>C | |
| X | g.18575387A>G | CA412348596 | CDKL5 | c.179A>G (p.Glu60Gly) c.47A>G (p.Glu16Gly) n.431A>G | ClinVar |
| X | g.18575387A>T | CA412348594 | CDKL5 | c.179A>T (p.Glu60Val) c.47A>T (p.Glu16Val) n.431A>T | |
| X | g.18575388G>A | CA200253 | CDKL5 | c.180G>A (p.Glu60=) c.48G>A (p.Glu16=) n.432G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18575388G>C | CA412348598 | CDKL5 | c.180G>C (p.Glu60Asp) c.48G>C (p.Glu16Asp) n.432G>C | |
| X | g.18575388G= | CA2417965300 | CDKL5 | c.180G= (p.Glu60=) c.48G= (p.Glu16=) n.432G= | |
| X | g.18575388G>T | CA412348599 | CDKL5 | c.180G>T (p.Glu60Asp) c.48G>T (p.Glu16Asp) n.432G>T | |
| X | g.18575389C>A | CA412348600 | CDKL5 | c.181C>A (p.Leu61Ile) c.181C>A c.49C>A (p.Leu17Ile) n.433C>A | |
| X | g.18575389C>G | CA412348601 | CDKL5 | c.181C>G (p.Leu61Val) c.181C>G c.49C>G (p.Leu17Val) n.433C>G | |
| X | g.18575389C>T | CA412348602 | CDKL5 | c.181C>T (p.Leu61Phe) c.181C>T c.49C>T (p.Leu17Phe) n.433C>T | |
| X | g.18575389_18575390delinsCT | CA2417965301 | CDKL5 | c.181_182delinsCT (p.Leu61=) c.181_182delinsCT c.49_50delinsCT (p.Leu17=) n.433_434delinsCT | |
| X | g.18575390T>A | CA412348603 | CDKL5 | c.182T>A (p.Leu61His) c.182T>A c.50T>A (p.Leu17His) n.434T>A | |
| X | g.18575390T>C | CA412348604 | CDKL5 | c.182T>C (p.Leu61Pro) c.182T>C c.50T>C (p.Leu17Pro) n.434T>C | |
| X | g.18575390T>G | CA412348605 | CDKL5 | c.182T>G (p.Leu61Arg) c.182T>G c.50T>G (p.Leu17Arg) n.434T>G | |
| X | g.18575391del | CA170456 | CDKL5 | c.183del (p.Met63CysfsTer13) c.183del (p.Met63CysfsTer?) c.51del (p.Met19CysfsTer13) n.435del | ClinVar dbSNP |
| X | g.18575391T>A | CA515470001 | CDKL5 | c.183T>A (p.Leu61=) c.51T>A (p.Leu17=) n.435T>A | |
| X | g.18575391T>C | CA515470002 | CDKL5 | c.183T>C (p.Leu61=) c.51T>C (p.Leu17=) n.435T>C | |
| X | g.18575391T>G | CA515470000 | CDKL5 | c.183T>G (p.Leu61=) c.51T>G (p.Leu17=) n.435T>G | |
| X | g.18575392A>C | CA412348608 | CDKL5 | c.184A>C (p.Lys62Gln) c.52A>C (p.Lys18Gln) n.436A>C | |
| X | g.18575392A>G | CA412348607 | CDKL5 | c.184A>G (p.Lys62Glu) c.52A>G (p.Lys18Glu) n.436A>G | |
| X | g.18575392A>T | CA412348606 | CDKL5 | c.184A>T (p.Lys62Ter) c.52A>T (p.Lys18Ter) n.436A>T | |
| X | g.18575395del | CA2579562759 | CDKL5 | c.187del (p.Met63CysfsTer13) c.187del (p.Met63CysfsTer?) c.55del (p.Met19CysfsTer13) n.439del | |
| X | g.18575393A>C | CA412348609 | CDKL5 | c.185A>C (p.Lys62Thr) c.53A>C (p.Lys18Thr) n.437A>C | |
| X | g.18575393A>G | CA412348610 | CDKL5 | c.185A>G (p.Lys62Arg) c.53A>G (p.Lys18Arg) n.437A>G | |
| X | g.18575393A>T | CA412348611 | CDKL5 | c.185A>T (p.Lys62Ile) c.53A>T (p.Lys18Ile) n.437A>T | |
| X | g.18575394A>C | CA412348612 | CDKL5 | c.186A>C (p.Lys62Asn) c.54A>C (p.Lys18Asn) n.438A>C | |
| X | g.18575394A>G | CA515470003 | CDKL5 | c.186A>G (p.Lys62=) c.54A>G (p.Lys18=) n.438A>G | |
| X | g.18575394A>T | CA412348613 | CDKL5 | c.186A>T (p.Lys62Asn) c.54A>T (p.Lys18Asn) n.438A>T | |
| X | g.18575395A>C | CA412348614 | CDKL5 | c.187A>C (p.Met63Leu) c.55A>C (p.Met19Leu) n.439A>C | |
| X | g.18575395A>G | CA412348615 | CDKL5 | c.187A>G (p.Met63Val) c.55A>G (p.Met19Val) n.439A>G | gnomAD v4 |
| X | g.18575395A>T | CA412348616 | CDKL5 | c.187A>T (p.Met63Leu) c.55A>T (p.Met19Leu) n.439A>T | |
| X | g.18575396T>A | CA412348617 | CDKL5 | c.188T>A (p.Met63Lys) c.56T>A (p.Met19Lys) n.440T>A | |
| X | g.18575396T>C | CA412348618 | CDKL5 | c.188T>C (p.Met63Thr) c.56T>C (p.Met19Thr) n.440T>C | |
| X | g.18575396T>G | CA412348619 | CDKL5 | c.188T>G (p.Met63Arg) c.56T>G (p.Met19Arg) n.440T>G | |
| X | g.18575397G>A | CA412348622 | CDKL5 | c.189G>A (p.Met63Ile) c.57G>A (p.Met19Ile) n.441G>A | |
| X | g.18575397G>C | CA412348621 | CDKL5 | c.189G>C (p.Met63Ile) c.57G>C (p.Met19Ile) n.441G>C | |
| X | g.18575397G>T | CA412348620 | CDKL5 | c.189G>T (p.Met63Ile) c.57G>T (p.Met19Ile) n.441G>T | |
| X | g.18575398C>A | CA412348623 | CDKL5 | c.190C>A (p.Leu64Ile) c.58C>A (p.Leu20Ile) n.442C>A | |
| X | g.18575398C>G | CA412348624 | CDKL5 | c.190C>G (p.Leu64Val) c.58C>G (p.Leu20Val) n.442C>G | |
| X | g.18575398C>T | CA412348625 | CDKL5 | c.190C>T (p.Leu64Phe) c.58C>T (p.Leu20Phe) n.442C>T | |
| X | g.18575399T>A | CA412348626 | CDKL5 | c.191T>A (p.Leu64His) c.59T>A (p.Leu20His) n.443T>A | |
| X | g.18575399T>C | CA170460 | CDKL5 | c.191T>C (p.Leu64Pro) c.59T>C (p.Leu20Pro) n.443T>C | ClinVar dbSNP |
| X | g.18575399T>G | CA412348627 | CDKL5 | c.191T>G (p.Leu64Arg) c.59T>G (p.Leu20Arg) n.443T>G | |
| X | g.18575399T= | CA2417965302 | CDKL5 | c.191T= (p.Leu64=) c.59T= (p.Leu20=) n.443T= | |
| X | g.18575400T>A | CA515470004 | CDKL5 | c.192T>A (p.Leu64=) c.60T>A (p.Leu20=) n.444T>A | |
| X | g.18575400T>C | CA515470005 | CDKL5 | c.192T>C (p.Leu64=) c.60T>C (p.Leu20=) n.444T>C | |
| X | g.18575400T>G | CA10360225 | CDKL5 | c.192T>G (p.Leu64=) c.60T>G (p.Leu20=) n.444T>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18575400T= | CA2417965303 | CDKL5 | c.192T= (p.Leu64=) c.60T= (p.Leu20=) n.444T= | |
| X | g.18575401C>A | CA515470006 | CDKL5 | c.193C>A (p.Arg65=) c.61C>A (p.Arg21=) n.445C>A | |
| X | g.18575401C>G | CA412348628 | CDKL5 | c.193C>G (p.Arg65Gly) c.61C>G (p.Arg21Gly) n.445C>G | |
| X | g.18575401C>T | CA412348629 | CDKL5 | c.193C>T (p.Arg65Trp) c.61C>T (p.Arg21Trp) n.445C>T | |
| X | g.18575402G>A | CA170462 | CDKL5 | c.194G>A (p.Arg65Gln) c.62G>A (p.Arg21Gln) n.446G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| X | g.18575402G>C | CA412348630 | CDKL5 | c.194G>C (p.Arg65Pro) c.62G>C (p.Arg21Pro) n.446G>C | ClinVar dbSNP |
| X | g.18575402G= | CA2417965304 | CDKL5 | c.194G= (p.Arg65=) c.62G= (p.Arg21=) n.446G= | |
| X | g.18575402G>T | CA412348631 | CDKL5 | c.194G>T (p.Arg65Leu) c.62G>T (p.Arg21Leu) n.446G>T | |
| X | g.18575403G>A | CA515470007 | CDKL5 | c.195G>A (p.Arg65=) c.63G>A (p.Arg21=) n.447G>A | |
| X | g.18575403G>C | CA515470009 | CDKL5 | c.195G>C (p.Arg65=) c.63G>C (p.Arg21=) n.447G>C | |
| X | g.18575403G>T | CA515470008 | CDKL5 | c.195G>T (p.Arg65=) c.63G>T (p.Arg21=) n.447G>T | |
| X | g.18575404A>C | CA412348634 | CDKL5 | c.196A>C (p.Thr66Pro) c.64A>C (p.Thr22Pro) n.448A>C | |
| X | g.18575404A>G | CA412348632 | CDKL5 | c.196A>G (p.Thr66Ala) c.64A>G (p.Thr22Ala) n.448A>G | |
| X | g.18575404A>T | CA412348633 | CDKL5 | c.196A>T (p.Thr66Ser) c.64A>T (p.Thr22Ser) n.448A>T | |
| X | g.18575404_18575406delinsACT | CA2417965305 | CDKL5 | c.196_198delinsACT (p.Thr66=) c.64_66delinsACT (p.Thr22=) n.448_450delinsACT | |
| X | g.18575405C>A | CA412348635 | CDKL5 | c.197C>A (p.Thr66Asn) c.65C>A (p.Thr22Asn) n.449C>A | |
| X | g.18575405C>G | CA412348636 | CDKL5 | c.197C>G (p.Thr66Ser) c.65C>G (p.Thr22Ser) n.449C>G | |
| X | g.18575405C>T | CA412348637 | CDKL5 | c.197C>T (p.Thr66Ile) c.65C>T (p.Thr22Ile) n.449C>T | |
| X | g.18575408_18575409del | CA658799601 | CDKL5 | c.200_201del (p.Leu67GlnfsTer23) c.200_201del (p.Leu67GlnfsTer?) c.68_69del (p.Leu23GlnfsTer23) n.452_453del | ClinVar dbSNP |
| X | g.18575406T>A | CA515470010 | CDKL5 | c.198T>A (p.Thr66=) c.66T>A (p.Thr22=) n.450T>A | |
| X | g.18575406T>C | CA515470011 | CDKL5 | c.198T>C (p.Thr66=) c.66T>C (p.Thr22=) n.450T>C | gnomAD v4 |
| X | g.18575406T>G | CA515470012 | CDKL5 | c.198T>G (p.Thr66=) c.66T>G (p.Thr22=) n.450T>G | |
| X | g.18575407C>A | CA412348638 | CDKL5 | c.199C>A (p.Leu67Ile) c.67C>A (p.Leu23Ile) n.451C>A | |
| X | g.18575407C= | CA2417965306 | CDKL5 | c.199C= (p.Leu67=) c.67C= (p.Leu23=) n.451C= | |
| X | g.18575407C>G | CA412348639 | CDKL5 | c.199C>G (p.Leu67Val) c.67C>G (p.Leu23Val) n.451C>G | |
| X | g.18575407C>T | CA170464 | CDKL5 | c.199C>T (p.Leu67Phe) c.67C>T (p.Leu23Phe) n.451C>T | ClinVar dbSNP |
| X | g.18575407_18575413del | CA2695231276 | CDKL5 | c.199_205del (p.Leu67ArgfsTer7) c.199_205del (p.Leu67=) c.67_73del (p.Leu23ArgfsTer7) n.451_457del | |
| X | g.18575408T>A | CA412348640 | CDKL5 | c.200T>A (p.Leu67His) c.68T>A (p.Leu23His) n.452T>A | |
| X | g.18575408T>C | CA412348641 | CDKL5 | c.200T>C (p.Leu67Pro) c.68T>C (p.Leu23Pro) n.452T>C | |
| X | g.18575408T>G | CA412348642 | CDKL5 | c.200T>G (p.Leu67Arg) c.68T>G (p.Leu23Arg) n.452T>G | |
| X | g.18575409C>A | CA515470013 | CDKL5 | c.201C>A (p.Leu67=) c.69C>A (p.Leu23=) n.453C>A | |
| X | g.18575409C>G | CA515470015 | CDKL5 | c.201C>G (p.Leu67=) c.69C>G (p.Leu23=) n.453C>G | |
| X | g.18575409C>T | CA515470014 | CDKL5 | c.201C>T (p.Leu67=) c.69C>T (p.Leu23=) n.453C>T | |
| X | g.18575410A>C | CA412348643 | CDKL5 | c.202A>C (p.Lys68Gln) c.70A>C (p.Lys24Gln) n.454A>C | gnomAD v4 |
| X | g.18575410A>G | CA412348644 | CDKL5 | c.202A>G (p.Lys68Glu) c.70A>G (p.Lys24Glu) n.454A>G | |
| X | g.18575410A>T | CA412348645 | CDKL5 | c.202A>T (p.Lys68Ter) c.70A>T (p.Lys24Ter) n.454A>T | |
| X | g.18575411A>C | CA412348647 | CDKL5 | c.203A>C (p.Lys68Thr) c.71A>C (p.Lys24Thr) n.455A>C | |
| X | g.18575411A>G | CA412348648 | CDKL5 | c.203A>G (p.Lys68Arg) c.71A>G (p.Lys24Arg) n.455A>G | |
| X | g.18575411A>T | CA412348646 | CDKL5 | c.203A>T (p.Lys68Met) c.71A>T (p.Lys24Met) n.455A>T | |
| X | g.18575412G>A | CA515470016 | CDKL5 | c.204G>A (p.Lys68=) c.72G>A (p.Lys24=) n.456G>A | |
| X | g.18575412G>C | CA412348650 | CDKL5 | c.204G>C (p.Lys68Asn) c.72G>C (p.Lys24Asn) n.456G>C | |
| X | g.18575412G>T | CA412348649 | CDKL5 | c.204G>T (p.Lys68Asn) c.72G>T (p.Lys24Asn) n.456G>T | |
| X | g.18575413C>A | CA412348651 | CDKL5 | c.205C>A (p.Gln69Lys) c.205C>A c.73C>A (p.Gln25Lys) n.457C>A | |
| X | g.18575413C>G | CA412348652 | CDKL5 | c.205C>G (p.Gln69Glu) c.205C>G c.73C>G (p.Gln25Glu) n.457C>G | |
| X | g.18575413C>T | CA412348653 | CDKL5 | c.205C>T (p.Gln69Ter) c.205C>T c.73C>T (p.Gln25Ter) n.457C>T | ClinVar |
| X | g.18575414A>C | CA412348654 | CDKL5 | c.206A>C (p.Gln69Pro) c.206A>C c.74A>C (p.Gln25Pro) n.458A>C | ClinVar |
| X | g.18575414A>G | CA412348655 | CDKL5 | c.206A>G (p.Gln69Arg) c.206A>G c.74A>G (p.Gln25Arg) n.458A>G | |
| X | g.18575414A>T | CA412348656 | CDKL5 | c.206A>T (p.Gln69Leu) c.206A>T c.74A>T (p.Gln25Leu) n.458A>T | |
| X | g.18575414_18575421delinsAGGAAAAC | CA2417965307 | CDKL5 | c.206_213delinsAGGAAAAC (p.Gln69=) c.74_81delinsAGGAAAAC (p.Gln25=) n.458_465delinsAGGAAAAC | |
| X | g.18575415G>A | CA515470017 | CDKL5 | c.207G>A (p.Gln69=) c.75G>A (p.Gln25=) n.459G>A | |
| X | g.18575415G>C | CA412348657 | CDKL5 | c.207G>C (p.Gln69His) c.75G>C (p.Gln25His) n.459G>C | |
| X | g.18575415G>T | CA412348658 | CDKL5 | c.207G>T (p.Gln69His) c.75G>T (p.Gln25His) n.459G>T | |
| X | g.18575415_18575421del | CA199387 | CDKL5 | c.207_213del (p.Glu70LeufsTer4) c.75_81del (p.Glu26LeufsTer4) n.459_465del | ClinVar dbSNP |
| X | g.18575416G>A | CA412348659 | CDKL5 | c.208G>A (p.Glu70Lys) c.76G>A (p.Glu26Lys) n.460G>A | COSMIC |
| X | g.18575416G>C | CA412348660 | CDKL5 | c.208G>C (p.Glu70Gln) c.76G>C (p.Glu26Gln) n.460G>C | |
| X | g.18575416G>T | CA412348661 | CDKL5 | c.208G>T (p.Glu70Ter) c.76G>T (p.Glu26Ter) n.460G>T | |
| X | g.18575416_18575417delinsGA | CA2417965308 | CDKL5 | c.208_209delinsGA (p.Glu70=) c.76_77delinsGA (p.Glu26=) n.460_461delinsGA | |
| X | g.18575417A>C | CA412348664 | CDKL5 | c.209A>C (p.Glu70Ala) c.77A>C (p.Glu26Ala) n.461A>C | |
| X | g.18575417A>G | CA412348662 | CDKL5 | c.209A>G (p.Glu70Gly) c.77A>G (p.Glu26Gly) n.461A>G | |
| X | g.18575417A>T | CA412348663 | CDKL5 | c.209A>T (p.Glu70Val) c.77A>T (p.Glu26Val) n.461A>T | |
| X | g.18575420del | CA10605348 | CDKL5 | c.212del (p.Asn71ThrfsTer5) c.80del (p.Asn27ThrfsTer5) n.464del | ClinVar dbSNP |
| X | g.18575418A= | CA2417965309 | CDKL5 | c.210A= (p.Glu70=) c.78A= (p.Glu26=) n.462A= | |
| X | g.18575418A>C | CA412348665 | CDKL5 | c.210A>C (p.Glu70Asp) c.78A>C (p.Glu26Asp) n.462A>C | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18575418A>G | CA515470018 | CDKL5 | c.210A>G (p.Glu70=) c.78A>G (p.Glu26=) n.462A>G | |
| X | g.18575418A>T | CA412348666 | CDKL5 | c.210A>T (p.Glu70Asp) c.78A>T (p.Glu26Asp) n.462A>T | |
| X | g.18575419A= | CA2417965310 | CDKL5 | c.211A= (p.Asn71=) c.79A= (p.Asn27=) n.463A= | |
| X | g.18575419A>C | CA412348667 | CDKL5 | c.211A>C (p.Asn71His) c.79A>C (p.Asn27His) n.463A>C | |
| X | g.18575419A>G | CA199365 | CDKL5 | c.211A>G (p.Asn71Asp) c.79A>G (p.Asn27Asp) n.463A>G | ClinVar dbSNP |
| X | g.18575419A>T | CA412348668 | CDKL5 | c.211A>T (p.Asn71Tyr) c.79A>T (p.Asn27Tyr) n.463A>T | |
| X | g.18575420A= | CA2417965311 | CDKL5 | c.212A= (p.Asn71=) c.80A= (p.Asn27=) n.464A= | |
| X | g.18575420A>C | CA412348669 | CDKL5 | c.212A>C (p.Asn71Thr) c.80A>C (p.Asn27Thr) n.464A>C | |
| X | g.18575420A>G | CA412348670 | CDKL5 | c.212A>G (p.Asn71Ser) c.80A>G (p.Asn27Ser) n.464A>G | ClinVar dbSNP |
| X | g.18575420A>T | CA412348671 | CDKL5 | c.212A>T (p.Asn71Ile) c.80A>T (p.Asn27Ile) n.464A>T | |
| X | g.18575421C>A | CA412348672 | CDKL5 | c.213C>A (p.Asn71Lys) c.81C>A (p.Asn27Lys) n.465C>A | |
| X | g.18575421C= | CA2417965313 | CDKL5 | c.213C= (p.Asn71=) c.81C= (p.Asn27=) n.465C= | |
| X | g.18575421C>G | CA412348673 | CDKL5 | c.213C>G (p.Asn71Lys) c.81C>G (p.Asn27Lys) n.465C>G | ClinVar dbSNP |
| X | g.18575421C>T | CA515470019 | CDKL5 | c.213C>T (p.Asn71=) c.81C>T (p.Asn27=) n.465C>T | |
| X | g.18575421_18575424delinsCATT | CA2417965312 | CDKL5 | c.213_216delinsCATT (p.Asn71=) c.81_84delinsCATT (p.Asn27=) n.465_468delinsCATT | |
| X | g.18575422A>C | CA412348675 | CDKL5 | c.214A>C (p.Ile72Leu) c.82A>C (p.Ile28Leu) n.466A>C | |
| X | g.18575422A>G | CA412348676 | CDKL5 | c.214A>G (p.Ile72Val) c.82A>G (p.Ile28Val) n.466A>G | |
| X | g.18575422A>T | CA412348674 | CDKL5 | c.214A>T (p.Ile72Phe) c.82A>T (p.Ile28Phe) n.466A>T | |
| X | g.18575422_18575424del | CA235604 | CDKL5 | c.214_216del (p.Ile72del) c.82_84del (p.Ile28del) n.466_468del | ClinVar dbSNP |