| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.18587958C>A | CA412353024 | CDKL5 | c.559C>A (p.Pro187Thr) n.273C>A c.427C>A (p.Pro143Thr) n.811C>A | |
| X | g.18587958C>G | CA412353026 | CDKL5 | c.559C>G (p.Pro187Ala) n.273C>G c.427C>G (p.Pro143Ala) n.811C>G | |
| X | g.18587958C>T | CA412353028 | CDKL5 | c.559C>T (p.Pro187Ser) n.273C>T c.427C>T (p.Pro143Ser) n.811C>T | |
| X | g.18587959C>A | CA412353030 | CDKL5 | c.560C>A (p.Pro187His) n.274C>A c.428C>A (p.Pro143His) n.812C>A | |
| X | g.18587959C>G | CA412353032 | CDKL5 | c.560C>G (p.Pro187Arg) n.274C>G c.428C>G (p.Pro143Arg) n.812C>G | |
| X | g.18587959C>T | CA412353034 | CDKL5 | c.560C>T (p.Pro187Leu) n.274C>T c.428C>T (p.Pro143Leu) n.812C>T | gnomAD v4 |
| X | g.18587960C>A | CA515470253 | CDKL5 | c.561C>A (p.Pro187=) n.275C>A c.429C>A (p.Pro143=) n.813C>A | gnomAD v4 |
| X | g.18587960C>G | CA515470254 | CDKL5 | c.561C>G (p.Pro187=) n.275C>G c.429C>G (p.Pro143=) n.813C>G | gnomAD v4 |
| X | g.18587960C>T | CA515470255 | CDKL5 | c.561C>T (p.Pro187=) n.275C>T c.429C>T (p.Pro143=) n.813C>T | gnomAD v4 |
| X | g.18587961T>A | CA412353038 | CDKL5 | c.562T>A (p.Tyr188Asn) n.276T>A c.430T>A (p.Tyr144Asn) n.814T>A | |
| X | g.18587961T>C | CA412353039 | CDKL5 | c.562T>C (p.Tyr188His) n.276T>C c.430T>C (p.Tyr144His) n.814T>C | |
| X | g.18587961T>G | CA412353036 | CDKL5 | c.562T>G (p.Tyr188Asp) n.276T>G c.430T>G (p.Tyr144Asp) n.814T>G | |
| X | g.18587962A>C | CA412353043 | CDKL5 | c.563A>C (p.Tyr188Ser) n.277A>C c.431A>C (p.Tyr144Ser) n.815A>C | |
| X | g.18587962A>G | CA412353042 | CDKL5 | c.563A>G (p.Tyr188Cys) n.277A>G c.431A>G (p.Tyr144Cys) n.815A>G | |
| X | g.18587962A>T | CA412353045 | CDKL5 | c.563A>T (p.Tyr188Phe) n.277A>T c.431A>T (p.Tyr144Phe) n.815A>T | |
| X | g.18587963T>A | CA412353047 | CDKL5 | c.564T>A (p.Tyr188Ter) n.278T>A c.432T>A (p.Tyr144Ter) n.816T>A | |
| X | g.18587963T>C | CA515470257 | CDKL5 | c.564T>C (p.Tyr188=) n.278T>C c.432T>C (p.Tyr144=) n.816T>C | |
| X | g.18587963T>G | CA412353049 | CDKL5 | c.564T>G (p.Tyr188Ter) n.278T>G c.432T>G (p.Tyr144Ter) n.816T>G | |
| X | g.18587964G>A | CA412353051 | CDKL5 | c.565G>A (p.Gly189Arg) n.279G>A c.433G>A (p.Gly145Arg) n.817G>A | |
| X | g.18587964G>C | CA412353053 | CDKL5 | c.565G>C (p.Gly189Arg) n.279G>C c.433G>C (p.Gly145Arg) n.817G>C | |
| X | g.18587964G>T | CA412353055 | CDKL5 | c.565G>T (p.Gly189Ter) n.279G>T c.433G>T (p.Gly145Ter) n.817G>T | |
| X | g.18587965dup | CA2573158450 | CDKL5 | c.566dup (p.Ser191ValfsTer15) n.280dup c.434dup (p.Ser147ValfsTer15) n.818dup | ClinVar dbSNP |
| X | g.18587965G>A | CA412353057 | CDKL5 | c.566G>A (p.Gly189Glu) n.280G>A c.434G>A (p.Gly145Glu) n.818G>A | |
| X | g.18587965G>C | CA412353059 | CDKL5 | c.566G>C (p.Gly189Ala) n.280G>C c.434G>C (p.Gly145Ala) n.818G>C | |
| X | g.18587965G>T | CA412353061 | CDKL5 | c.566G>T (p.Gly189Val) n.280G>T c.434G>T (p.Gly145Val) n.818G>T | |
| X | g.18587966A>C | CA515470261 | CDKL5 | c.567A>C (p.Gly189=) n.281A>C c.435A>C (p.Gly145=) n.819A>C | |
| X | g.18587966A>G | CA515470259 | CDKL5 | c.567A>G (p.Gly189=) n.281A>G c.435A>G (p.Gly145=) n.819A>G | gnomAD v4 |
| X | g.18587966A>T | CA515470260 | CDKL5 | c.567A>T (p.Gly189=) n.281A>T c.435A>T (p.Gly145=) n.819A>T | |
| X | g.18587967_18587968del | CA2695231308 | CDKL5 | c.568_569del (p.Lys190ValfsTer15) n.282_283del c.436_437del (p.Lys146ValfsTer15) n.820_821del | |
| X | g.18587967A>C | CA412353062 | CDKL5 | c.568A>C (p.Lys190Gln) n.282A>C c.436A>C (p.Lys146Gln) n.820A>C | |
| X | g.18587967A>G | CA412353064 | CDKL5 | c.568A>G (p.Lys190Glu) n.282A>G c.436A>G (p.Lys146Glu) n.820A>G | |
| X | g.18587967A>T | CA412353066 | CDKL5 | c.568A>T (p.Lys190Ter) n.282A>T c.436A>T (p.Lys146Ter) n.820A>T | |
| X | g.18587968A>C | CA412353068 | CDKL5 | c.569A>C (p.Lys190Thr) n.283A>C c.437A>C (p.Lys146Thr) n.821A>C | |
| X | g.18587968A>G | CA412353070 | CDKL5 | c.569A>G (p.Lys190Arg) n.283A>G c.437A>G (p.Lys146Arg) n.821A>G | |
| X | g.18587968A>T | CA412353072 | CDKL5 | c.569A>T (p.Lys190Met) n.283A>T c.437A>T (p.Lys146Met) n.821A>T | |
| X | g.18587969G>A | CA515470265 | CDKL5 | c.570G>A (p.Lys190=) n.284G>A c.438G>A (p.Lys146=) n.822G>A | dbSNP |
| X | g.18587969G>C | CA412353076 | CDKL5 | c.570G>C (p.Lys190Asn) n.284G>C c.438G>C (p.Lys146Asn) n.822G>C | |
| X | g.18587969G= | CA2417969108 | CDKL5 | c.570G= (p.Lys190=) n.284G= c.438G= (p.Lys146=) n.822G= | |
| X | g.18587969G>T | CA412353074 | CDKL5 | c.570G>T (p.Lys190Asn) n.284G>T c.438G>T (p.Lys146Asn) n.822G>T | |
| X | g.18587970T>A | CA412353078 | CDKL5 | c.571T>A (p.Ser191Thr) n.285T>A c.439T>A (p.Ser147Thr) n.823T>A | |
| X | g.18587970T>C | CA412353079 | CDKL5 | c.571T>C (p.Ser191Pro) n.285T>C c.439T>C (p.Ser147Pro) n.823T>C | |
| X | g.18587970T>G | CA412353081 | CDKL5 | c.571T>G (p.Ser191Ala) n.285T>G c.439T>G (p.Ser147Ala) n.823T>G | |
| X | g.18587971C>A | CA412353084 | CDKL5 | c.572C>A (p.Ser191Tyr) n.286C>A c.440C>A (p.Ser147Tyr) n.824C>A | gnomAD v4 |
| X | g.18587971C>G | CA412353085 | CDKL5 | c.572C>G (p.Ser191Cys) n.286C>G c.440C>G (p.Ser147Cys) n.824C>G | |
| X | g.18587971C>T | CA412353087 | CDKL5 | c.572C>T (p.Ser191Phe) n.286C>T c.440C>T (p.Ser147Phe) n.824C>T | |
| X | g.18587972C>A | CA515470267 | CDKL5 | c.573C>A (p.Ser191=) n.287C>A c.441C>A (p.Ser147=) n.825C>A | gnomAD v4 |
| X | g.18587972C= | CA2417969109 | CDKL5 | c.573C= (p.Ser191=) n.287C= c.441C= (p.Ser147=) n.825C= | |
| X | g.18587972C>G | CA199352 | CDKL5 | c.573C>G (p.Ser191=) n.287C>G c.441C>G (p.Ser147=) n.825C>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18587972C>T | CA515470268 | CDKL5 | c.573C>T (p.Ser191=) n.287C>T c.441C>T (p.Ser147=) n.825C>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18587973G>A | CA326985315 | CDKL5 | c.574G>A (p.Val192Met) n.288G>A c.442G>A (p.Val148Met) n.826G>A | ClinVar dbSNP gnomAD v4 COSMIC |