| 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.18584329_18584334del | CA2580617640 | CDKL5 | c.530_535del (p.Tyr177_Arg178del) c.398_403del (p.Tyr133_Arg134del) n.782_787del | ClinVar |
| X | g.18584332_18584335dup | CA2580100396 | CDKL5 | c.533_536dup (p.Pro180ValfsTer27) c.401_404dup (p.Pro136ValfsTer27) n.785_788dup | ClinVar |
| X | g.18584332G>A | CA199289 | CDKL5 | c.533G>A (p.Arg178Gln) c.401G>A (p.Arg134Gln) n.785G>A | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.18584332G>C | CA121529 | CDKL5 | c.533G>C (p.Arg178Pro) c.401G>C (p.Arg134Pro) n.785G>C | ClinVar dbSNP |
| X | g.18584332G= | CA2417968032 | CDKL5 | c.533G= (p.Arg178=) c.401G= (p.Arg134=) n.785G= | |
| X | g.18584332G>T | CA412352495 | CDKL5 | c.533G>T (p.Arg178Leu) c.401G>T (p.Arg134Leu) n.785G>T | ClinVar |
| X | g.18584333G>A | CA10360277 | CDKL5 | c.534G>A (p.Arg178=) c.402G>A (p.Arg134=) n.786G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18584333G>C | CA515470206 | CDKL5 | c.534G>C (p.Arg178=) c.402G>C (p.Arg134=) n.786G>C | |
| X | g.18584333G= | CA2417968033 | CDKL5 | c.534G= (p.Arg178=) c.402G= (p.Arg134=) n.786G= | |
| X | g.18584333G>T | CA515470207 | CDKL5 | c.534G>T (p.Arg178=) c.402G>T (p.Arg134=) n.786G>T | |
| X | g.18584334T>A | CA412352497 | CDKL5 | c.535T>A (p.Ser179Thr) c.403T>A (p.Ser135Thr) n.787T>A | |
| X | g.18584334T>C | CA412352499 | CDKL5 | c.535T>C (p.Ser179Pro) c.403T>C (p.Ser135Pro) n.787T>C | |
| X | g.18584334T>G | CA412352500 | CDKL5 | c.535T>G (p.Ser179Ala) c.403T>G (p.Ser135Ala) n.787T>G | |
| X | g.18584335C>A | CA412352504 | CDKL5 | c.536C>A (p.Ser179Tyr) c.404C>A (p.Ser135Tyr) n.788C>A | |
| X | g.18584335C>G | CA412352506 | CDKL5 | c.536C>G (p.Ser179Cys) c.404C>G (p.Ser135Cys) n.788C>G | |
| X | g.18584335C>T | CA412352502 | CDKL5 | c.536C>T (p.Ser179Phe) c.404C>T (p.Ser135Phe) n.788C>T | |
| X | g.18584338del | CA2579562828 | CDKL5 | c.539del (p.Pro180GlnfsTer?) c.407del (p.Pro136GlnfsTer?) n.791del | |
| X | g.18584337_18584338del | CA2579562829 | CDKL5 | c.538_539del (p.Pro180ArgfsTer25) c.406_407del (p.Pro136ArgfsTer25) n.790_791del | |
| X | g.18584336C>A | CA515470208 | CDKL5 | c.537C>A (p.Ser179=) c.405C>A (p.Ser135=) n.789C>A | |
| X | g.18584336C>G | CA515470209 | CDKL5 | c.537C>G (p.Ser179=) c.405C>G (p.Ser135=) n.789C>G | |
| X | g.18584336C>T | CA515470210 | CDKL5 | c.537C>T (p.Ser179=) c.405C>T (p.Ser135=) n.789C>T | |
| X | g.18584337C>A | CA412352508 | CDKL5 | c.538C>A (p.Pro180Thr) c.406C>A (p.Pro136Thr) n.790C>A | |
| X | g.18584337C>G | CA412352512 | CDKL5 | c.538C>G (p.Pro180Ala) c.406C>G (p.Pro136Ala) n.790C>G | |
| X | g.18584337C>T | CA412352510 | CDKL5 | c.538C>T (p.Pro180Ser) c.406C>T (p.Pro136Ser) n.790C>T | ClinVar |
| X | g.18584338C>A | CA412352515 | CDKL5 | c.539C>A (p.Pro180Gln) c.407C>A (p.Pro136Gln) n.791C>A | |
| X | g.18584338C= | CA2417968034 | CDKL5 | c.539C= (p.Pro180=) c.407C= (p.Pro136=) n.791C= | |
| X | g.18584338C>G | CA412352517 | CDKL5 | c.539C>G (p.Pro180Arg) c.407C>G (p.Pro136Arg) n.791C>G | |
| X | g.18584338C>T | CA170494 | CDKL5 | c.539C>T (p.Pro180Leu) c.407C>T (p.Pro136Leu) n.791C>T | ClinVar dbSNP gnomAD v4 |
| X | g.18584339A>C | CA515470211 | CDKL5 | c.540A>C (p.Pro180=) c.408A>C (p.Pro136=) n.792A>C | |
| X | g.18584339A>G | CA515470212 | CDKL5 | c.540A>G (p.Pro180=) c.408A>G (p.Pro136=) n.792A>G | gnomAD v4 |
| X | g.18584339A>T | CA515470213 | CDKL5 | c.540A>T (p.Pro180=) c.408A>T (p.Pro136=) n.792A>T | |
| X | g.18584340G>A | CA247610 | CDKL5 | c.541G>A (p.Glu181Lys) c.409G>A (p.Glu137Lys) n.793G>A | ClinVar dbSNP |
| X | g.18584340G>C | CA412352521 | CDKL5 | c.541G>C (p.Glu181Gln) c.409G>C (p.Glu137Gln) n.793G>C | |
| X | g.18584340G= | CA2417968035 | CDKL5 | c.541G= (p.Glu181=) c.409G= (p.Glu137=) n.793G= | |
| X | g.18584340G>T | CA412352523 | CDKL5 | c.541G>T (p.Glu181Ter) c.409G>T (p.Glu137Ter) n.793G>T | |
| X | g.18584341A= | CA2417968036 | CDKL5 | c.542A= (p.Glu181=) c.410A= (p.Glu137=) n.794A= | |
| X | g.18584341A>C | CA294604 | CDKL5 | c.542A>C (p.Glu181Ala) c.410A>C (p.Glu137Ala) n.794A>C | ClinVar dbSNP |
| X | g.18584341A>G | CA412352526 | CDKL5 | c.542A>G (p.Glu181Gly) c.410A>G (p.Glu137Gly) n.794A>G | |
| X | g.18584341A>T | CA412352528 | CDKL5 | c.542A>T (p.Glu181Val) c.410A>T (p.Glu137Val) n.794A>T | |
| X | g.18584342A>C | CA412352530 | CDKL5 | c.543A>C (p.Glu181Asp) c.411A>C (p.Glu137Asp) n.795A>C | |
| X | g.18584342A>G | CA515470214 | CDKL5 | c.543A>G (p.Glu181=) c.411A>G (p.Glu137=) n.795A>G | |
| X | g.18584342A>T | CA412352531 | CDKL5 | c.543A>T (p.Glu181Asp) c.411A>T (p.Glu137Asp) n.795A>T | |
| X | g.18584343C>A | CA412352542 | CDKL5 | c.544C>A (p.Leu182Ile) c.412C>A (p.Leu138Ile) n.796C>A | gnomAD v4 |
| X | g.18584343C= | CA2417968037 | CDKL5 | c.544C= (p.Leu182=) c.412C= (p.Leu138=) n.796C= | |
| X | g.18584343C>G | CA412352540 | CDKL5 | c.544C>G (p.Leu182Val) c.412C>G (p.Leu138Val) n.796C>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18584343C>T | CA412352535 | CDKL5 | c.544C>T (p.Leu182Phe) c.412C>T (p.Leu138Phe) n.796C>T | |
| X | g.18584344T>A | CA412352544 | CDKL5 | c.545T>A (p.Leu182His) c.413T>A (p.Leu138His) n.797T>A | |
| X | g.18584344T>C | CA412352546 | CDKL5 | c.545T>C (p.Leu182Pro) c.413T>C (p.Leu138Pro) n.797T>C | ClinVar dbSNP gnomAD v4 |
| X | g.18584344T>G | CA412352548 | CDKL5 | c.545T>G (p.Leu182Arg) c.413T>G (p.Leu138Arg) n.797T>G |