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.18587921G>A | CA2693221832 | CDKL5 | c.555-33G>A (n.555-33G>A) n.236G>A c.423-33G>A (n.423-33G>A) n.807-33G>A | gnomAD v4 |
| X | g.18587923T>C | CA2693221833 | CDKL5 | c.555-31T>C (n.555-31T>C) n.238T>C c.423-31T>C (n.423-31T>C) n.807-31T>C | gnomAD v4 |
| X | g.18587924G>A | CA10360284 | CDKL5 | c.555-30G>A (n.555-30G>A) n.239G>A c.423-30G>A (n.423-30G>A) n.807-30G>A | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18587924G= | CA2417969092 | CDKL5 | c.555-30G= (n.555-30G=) n.239G= c.423-30G= (n.423-30G=) n.807-30G= | |
| X | g.18587925C>A | CA2693221835 | CDKL5 | c.555-29C>A (n.555-29C>A) n.240C>A c.423-29C>A (n.423-29C>A) n.807-29C>A | gnomAD v4 |
| X | g.18587925C>T | CA2693221834 | CDKL5 | c.555-29C>T (n.555-29C>T) n.240C>T c.423-29C>T (n.423-29C>T) n.807-29C>T | gnomAD v4 |
| X | g.18587926C>A | CA2579562852 | CDKL5 | c.555-28C>A (n.555-28C>A) n.241C>A c.423-28C>A (n.423-28C>A) n.807-28C>A | gnomAD v4 |
| X | g.18587926_18587927delinsCA | CA2417969093 | CDKL5 | c.555-28_555-27delinsCA (n.555-28_555-27delinsCA) n.241_242delinsCA c.423-28_423-27delinsCA (n.423-28_423-27delinsCA) n.807-28_807-27delinsCA | |
| X | g.18587930del | CA873657778 | CDKL5 | c.555-24del (n.555-24del) n.245del c.423-24del (n.423-24del) n.807-24del | dbSNP |
| X | g.18587929A= | CA2417969094 | CDKL5 | c.555-25A= (n.555-25A=) n.244A= c.423-25A= (n.423-25A=) n.807-25A= | |
| X | g.18587929A>T | CA10360285 | CDKL5 | c.555-25A>T (n.555-25A>T) n.244A>T c.423-25A>T (n.423-25A>T) n.807-25A>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18587931_18587932delinsTA | CA2417969095 | CDKL5 | c.555-23_555-22delinsTA (n.555-23_555-22delinsTA) n.246_247delinsTA c.423-23_423-22delinsTA (n.423-23_423-22delinsTA) n.807-23_807-22delinsTA | |
| X | g.18587932_18587942del | CA2693221836 | CDKL5 | c.555-22_555-12del (n.555-22_555-12del) n.247_257del c.423-22_423-12del (n.423-22_423-12del) n.807-22_807-12del | gnomAD v4 |
| X | g.18587932A>G | CA2693221837 | CDKL5 | c.555-22A>G (n.555-22A>G) n.247A>G c.423-22A>G (n.423-22A>G) n.807-22A>G | gnomAD v4 |
| X | g.18587933del | CA1131401547 | CDKL5 | c.555-21del (n.555-21del) n.248del c.423-21del (n.423-21del) n.807-21del | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18587935C>A | CA2740092042 | CDKL5 | c.555-19C>A (n.555-19C>A) n.250C>A c.423-19C>A (n.423-19C>A) n.807-19C>A | ClinVar |
| X | g.18587935C= | CA2417969096 | CDKL5 | c.555-19C= (n.555-19C=) n.250C= c.423-19C= (n.423-19C=) n.807-19C= | |
| X | g.18587935C>G | CA213362 | CDKL5 | c.555-19C>G (n.555-19C>G) n.250C>G c.423-19C>G (n.423-19C>G) n.807-19C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18587935C>T | CA10360286 | CDKL5 | c.555-19C>T (n.555-19C>T) n.250C>T c.423-19C>T (n.423-19C>T) n.807-19C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18587936T>G | CA2417969098 | CDKL5 | c.555-18T>G (n.555-18T>G) n.251T>G c.423-18T>G (n.423-18T>G) n.807-18T>G | dbSNP |
| X | g.18587936T= | CA2417969097 | CDKL5 | c.555-18T= (n.555-18T=) n.251T= c.423-18T= (n.423-18T=) n.807-18T= | |
| X | g.18587937C= | CA2417969099 | CDKL5 | c.555-17C= (n.555-17C=) n.252C= c.423-17C= (n.423-17C=) n.807-17C= | |
| X | g.18587937C>T | CA10360287 | CDKL5 | c.555-17C>T (n.555-17C>T) n.252C>T c.423-17C>T (n.423-17C>T) n.807-17C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18587938T>C | CA2693221838 | CDKL5 | c.555-16T>C (n.555-16T>C) n.253T>C c.423-16T>C (n.423-16T>C) n.807-16T>C | gnomAD v4 |
| X | g.18587940C>G | CA2693221839 | CDKL5 | c.555-14C>G (n.555-14C>G) n.255C>G c.423-14C>G (n.423-14C>G) n.807-14C>G | gnomAD v4 |
| X | g.18587941C>T | CA2693221840 | CDKL5 | c.555-13C>T (n.555-13C>T) n.256C>T c.423-13C>T (n.423-13C>T) n.807-13C>T | gnomAD v4 |
| X | g.18587945A= | CA2417969100 | CDKL5 | c.555-9A= (n.555-9A=) n.260A= c.423-9A= (n.423-9A=) n.807-9A= | |
| X | g.18587945A>G | CA2417969101 | CDKL5 | c.555-9A>G (n.555-9A>G) n.260A>G c.423-9A>G (n.423-9A>G) n.807-9A>G | dbSNP gnomAD v4 |
| X | g.18587946T>C | CA640510279 | CDKL5 | c.555-8T>C (n.555-8T>C) n.261T>C c.423-8T>C (n.423-8T>C) n.807-8T>C | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18587946T= | CA2417969102 | CDKL5 | c.555-8T= (n.555-8T=) n.261T= c.423-8T= (n.423-8T=) n.807-8T= | |
| X | g.18587947T>A | CA640510280 | CDKL5 | c.555-7T>A (n.555-7T>A) n.262T>A c.423-7T>A (n.423-7T>A) n.807-7T>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18587947T= | CA2417969103 | CDKL5 | c.555-7T= (n.555-7T=) n.262T= c.423-7T= (n.423-7T=) n.807-7T= | |
| X | g.18587949T>G | CA10360288 | CDKL5 | c.555-5T>G (n.555-5T>G) n.264T>G c.423-5T>G (n.423-5T>G) n.807-5T>G | dbSNP ExAC gnomAD v2 |
| X | g.18587949T= | CA2417969104 | CDKL5 | c.555-5T= (n.555-5T=) n.264T= c.423-5T= (n.423-5T=) n.807-5T= | |
| X | g.18587951C>A | CA2693221841 | CDKL5 | c.555-3C>A (n.555-3C>A) n.266C>A c.423-3C>A (n.423-3C>A) n.807-3C>A | gnomAD v4 |
| X | g.18587952A= | CA2417969105 | CDKL5 | c.555-2A= (n.555-2A=) n.267A= c.423-2A= (n.423-2A=) n.807-2A= | |
| X | g.18587952A>C | CA412353005 | CDKL5 | c.555-2A>C (n.555-2A>C) n.267A>C c.423-2A>C (n.423-2A>C) n.807-2A>C | |
| X | g.18587952A>G | CA412353007 | CDKL5 | c.555-2A>G (n.555-2A>G) n.267A>G c.423-2A>G (n.423-2A>G) n.807-2A>G | ClinVar dbSNP |
| X | g.18587952A>T | CA412353009 | CDKL5 | c.555-2A>T (n.555-2A>T) n.267A>T c.423-2A>T (n.423-2A>T) n.807-2A>T | |
| X | g.18587953G>A | CA412353014 | CDKL5 | c.555-1G>A (n.555-1G>A) n.268G>A c.423-1G>A (n.423-1G>A) n.807-1G>A | |
| X | g.18587953G>C | CA412353012 | CDKL5 | c.555-1G>C (n.555-1G>C) n.268G>C c.423-1G>C (n.423-1G>C) n.807-1G>C | |
| X | g.18587953G>T | CA412353013 | CDKL5 | c.555-1G>T (n.555-1G>T) n.268G>T c.423-1G>T (n.423-1G>T) n.807-1G>T | |
| X | g.18587954C>A | CA515470246 | CDKL5 | c.555C>A (p.Gly185=) n.269C>A c.423C>A (p.Gly141=) n.807C>A | |
| X | g.18587954C= | CA2417969106 | CDKL5 | c.555C= (p.Gly185=) n.269C= c.423C= (p.Gly141=) n.807C= | |
| X | g.18587954C>G | CA515470247 | CDKL5 | c.555C>G (p.Gly185=) n.269C>G c.423C>G (p.Gly141=) n.807C>G | |
| X | g.18587954C>T | CA326985311 | CDKL5 | c.555C>T (p.Gly185=) n.269C>T c.423C>T (p.Gly141=) n.807C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.18587955G>A | CA10360289 | CDKL5 | c.556G>A (p.Ala186Thr) n.270G>A c.424G>A (p.Ala142Thr) n.808G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18587955G>C | CA412353016 | CDKL5 | c.556G>C (p.Ala186Pro) n.270G>C c.424G>C (p.Ala142Pro) n.808G>C | |
| X | g.18587955G= | CA2417969107 | CDKL5 | c.556G= (p.Ala186=) n.270G= c.424G= (p.Ala142=) n.808G= | |
| X | g.18587955G>T | CA412353018 | CDKL5 | c.556G>T (p.Ala186Ser) n.270G>T c.424G>T (p.Ala142Ser) n.808G>T | gnomAD v4 |
| X | g.18587956C>A | CA412353020 | CDKL5 | c.557C>A (p.Ala186Asp) n.271C>A c.425C>A (p.Ala142Asp) n.809C>A | |
| X | g.18587956C>G | CA412353021 | CDKL5 | c.557C>G (p.Ala186Gly) n.271C>G c.425C>G (p.Ala142Gly) n.809C>G | |
| X | g.18587956C>T | CA412353023 | CDKL5 | c.557C>T (p.Ala186Val) n.271C>T c.425C>T (p.Ala142Val) n.809C>T | |
| X | g.18587957T>A | CA515470249 | CDKL5 | c.558T>A (p.Ala186=) n.272T>A c.426T>A (p.Ala142=) n.810T>A | gnomAD v4 |
| X | g.18587957T>C | CA515470250 | CDKL5 | c.558T>C (p.Ala186=) n.272T>C c.426T>C (p.Ala142=) n.810T>C | |
| X | g.18587957T>G | CA515470251 | CDKL5 | c.558T>G (p.Ala186=) n.272T>G c.426T>G (p.Ala142=) n.810T>G | |
| 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 |
| X | g.18587973G>C | CA412353090 | CDKL5 | c.574G>C (p.Val192Leu) n.288G>C c.442G>C (p.Val148Leu) n.826G>C | |
| X | g.18587973G= | CA2417969110 | CDKL5 | c.574G= (p.Val192=) n.288G= c.442G= (p.Val148=) n.826G= | |
| X | g.18587973G>T | CA412353091 | CDKL5 | c.574G>T (p.Val192Leu) n.288G>T c.442G>T (p.Val148Leu) n.826G>T | COSMIC |
| X | g.18587974T>A | CA412353094 | CDKL5 | c.575T>A (p.Val192Glu) n.289T>A c.443T>A (p.Val148Glu) n.827T>A | |
| X | g.18587974T>C | CA412353096 | CDKL5 | c.575T>C (p.Val192Ala) n.289T>C c.443T>C (p.Val148Ala) n.827T>C | |
| X | g.18587974T>G | CA412353097 | CDKL5 | c.575T>G (p.Val192Gly) n.289T>G c.443T>G (p.Val148Gly) n.827T>G | |
| X | g.18587975G>A | CA515470271 | CDKL5 | c.576G>A (p.Val192=) n.290G>A c.444G>A (p.Val148=) n.828G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18587975G>C | CA515470272 | CDKL5 | c.576G>C (p.Val192=) n.290G>C c.444G>C (p.Val148=) n.828G>C | |
| X | g.18587975G= | CA2417969111 | CDKL5 | c.576G= (p.Val192=) n.290G= c.444G= (p.Val148=) n.828G= | |
| X | g.18587975G>T | CA515470273 | CDKL5 | c.576G>T (p.Val192=) n.290G>T c.444G>T (p.Val148=) n.828G>T | |
| X | g.18587976G>A | CA294606 | CDKL5 | c.577G>A (p.Asp193Asn) n.291G>A c.445G>A (p.Asp149Asn) n.829G>A | ClinVar dbSNP |
| X | g.18587976G>C | CA412353102 | CDKL5 | c.577G>C (p.Asp193His) n.291G>C c.445G>C (p.Asp149His) n.829G>C | |
| X | g.18587976G= | CA2417969112 | CDKL5 | c.577G= (p.Asp193=) n.291G= c.445G= (p.Asp149=) n.829G= | |
| X | g.18587976G>T | CA412353100 | CDKL5 | c.577G>T (p.Asp193Tyr) n.291G>T c.445G>T (p.Asp149Tyr) n.829G>T | |
| X | g.18587977A= | CA2417969113 | CDKL5 | c.578A= (p.Asp193=) n.292A= c.446A= (p.Asp149=) n.830A= | |
| X | g.18587977A>C | CA412353104 | CDKL5 | c.578A>C (p.Asp193Ala) n.292A>C c.446A>C (p.Asp149Ala) n.830A>C | ClinVar dbSNP |
| X | g.18587977A>G | CA171648 | CDKL5 | c.578A>G (p.Asp193Gly) n.292A>G c.446A>G (p.Asp149Gly) n.830A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18587977A>T | CA412353107 | CDKL5 | c.578A>T (p.Asp193Val) n.292A>T c.446A>T (p.Asp149Val) n.830A>T | ClinVar |
| X | g.18587978C>A | CA412353109 | CDKL5 | c.579C>A (p.Asp193Glu) n.293C>A c.447C>A (p.Asp149Glu) n.831C>A | |
| X | g.18587978C>G | CA412353110 | CDKL5 | c.579C>G (p.Asp193Glu) n.293C>G c.447C>G (p.Asp149Glu) n.831C>G | |
| X | g.18587978C>T | CA515470275 | CDKL5 | c.579C>T (p.Asp193=) n.293C>T c.447C>T (p.Asp149=) n.831C>T | |
| X | g.18587979A>C | CA412353113 | CDKL5 | c.580A>C (p.Met194Leu) n.294A>C c.448A>C (p.Met150Leu) n.832A>C | |
| X | g.18587979A>G | CA412353115 | CDKL5 | c.580A>G (p.Met194Val) n.294A>G c.448A>G (p.Met150Val) n.832A>G | |
| X | g.18587979A>T | CA412353117 | CDKL5 | c.580A>T (p.Met194Leu) n.294A>T c.448A>T (p.Met150Leu) n.832A>T | |
| X | g.18587980T>A | CA412353119 | CDKL5 | c.581T>A (p.Met194Lys) n.295T>A c.449T>A (p.Met150Lys) n.833T>A | |
| X | g.18587980T>C | CA412353120 | CDKL5 | c.581T>C (p.Met194Thr) n.295T>C c.449T>C (p.Met150Thr) n.833T>C | |
| X | g.18587980T>G | CA412353122 | CDKL5 | c.581T>G (p.Met194Arg) n.295T>G c.449T>G (p.Met150Arg) n.833T>G | |
| X | g.18587981G>A | CA412353128 | CDKL5 | c.582G>A (p.Met194Ile) n.296G>A c.450G>A (p.Met150Ile) n.834G>A | |
| X | g.18587981G>C | CA412353126 | CDKL5 | c.582G>C (p.Met194Ile) n.296G>C c.450G>C (p.Met150Ile) n.834G>C | |
| X | g.18587981G>T | CA412353125 | CDKL5 | c.582G>T (p.Met194Ile) n.296G>T c.450G>T (p.Met150Ile) n.834G>T | |
| X | g.18587981dup | CA2695231313 | CDKL5 | c.582dup (p.Trp195ValfsTer11) n.296dup c.450dup (p.Trp151ValfsTer11) n.834dup | |
| X | g.18587982T>A | CA412353129 | CDKL5 | c.583T>A (p.Trp195Arg) n.297T>A c.451T>A (p.Trp151Arg) n.835T>A | |
| X | g.18587982T>C | CA412353131 | CDKL5 | c.583T>C (p.Trp195Arg) n.297T>C c.451T>C (p.Trp151Arg) n.835T>C | |
| X | g.18587982T>G | CA412353133 | CDKL5 | c.583T>G (p.Trp195Gly) n.297T>G c.451T>G (p.Trp151Gly) n.835T>G | ClinVar dbSNP |
| X | g.18587982T= | CA2417969114 | CDKL5 | c.583T= (p.Trp195=) n.297T= c.451T= (p.Trp151=) n.835T= | |
| X | g.18587983G>A | CA412353134 | CDKL5 | c.584G>A (p.Trp195Ter) n.298G>A c.452G>A (p.Trp151Ter) n.836G>A | |
| X | g.18587983G>C | CA412353136 | CDKL5 | c.584G>C (p.Trp195Ser) n.298G>C c.452G>C (p.Trp151Ser) n.836G>C | |
| X | g.18587983G>T | CA412353138 | CDKL5 | c.584G>T (p.Trp195Leu) n.298G>T c.452G>T (p.Trp151Leu) n.836G>T | |
| X | g.18587984G>A | CA412353140 | CDKL5 | c.585G>A (p.Trp195Ter) n.299G>A c.453G>A (p.Trp151Ter) n.837G>A | ClinVar dbSNP |
| X | g.18587984G>C | CA412353142 | CDKL5 | c.585G>C (p.Trp195Cys) n.299G>C c.453G>C (p.Trp151Cys) n.837G>C | |
| X | g.18587984G>T | CA412353143 | CDKL5 | c.585G>T (p.Trp195Cys) n.299G>T c.453G>T (p.Trp151Cys) n.837G>T | ClinVar |
| X | g.18587985T>A | CA412353145 | CDKL5 | c.586T>A (p.Ser196Thr) n.300T>A c.454T>A (p.Ser152Thr) n.838T>A | |
| X | g.18587985T>C | CA412353147 | CDKL5 | c.586T>C (p.Ser196Pro) n.300T>C c.454T>C (p.Ser152Pro) n.838T>C | |
| X | g.18587985T>G | CA412353149 | CDKL5 | c.586T>G (p.Ser196Ala) n.300T>G c.454T>G (p.Ser152Ala) n.838T>G | |
| X | g.18587986C>A | CA412353152 | CDKL5 | c.587C>A (p.Ser196Ter) n.301C>A c.455C>A (p.Ser152Ter) n.839C>A | gnomAD v4 |
| X | g.18587986C= | CA2417969115 | CDKL5 | c.587C= (p.Ser196=) n.301C= c.455C= (p.Ser152=) n.839C= | |
| X | g.18587986C>G | CA412353153 | CDKL5 | c.587C>G (p.Ser196Trp) n.301C>G c.455C>G (p.Ser152Trp) n.839C>G | |
| X | g.18587986C>T | CA171650 | CDKL5 | c.587C>T (p.Ser196Leu) n.301C>T c.455C>T (p.Ser152Leu) n.839C>T | ClinVar dbSNP COSMIC |
| X | g.18587987G>A | CA10360290 | CDKL5 | c.588G>A (p.Ser196=) n.302G>A c.456G>A (p.Ser152=) n.840G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18587987G>C | CA515470280 | CDKL5 | c.588G>C (p.Ser196=) n.302G>C c.456G>C (p.Ser152=) n.840G>C | |
| X | g.18587987G= | CA2417969116 | CDKL5 | c.588G= (p.Ser196=) n.302G= c.456G= (p.Ser152=) n.840G= | |
| X | g.18587987G>T | CA515470281 | CDKL5 | c.588G>T (p.Ser196=) n.302G>T c.456G>T (p.Ser152=) n.840G>T | |
| X | g.18587988G>A | CA412353157 | CDKL5 | c.589G>A (p.Val197Met) n.303G>A c.457G>A (p.Val153Met) n.841G>A | |
| X | g.18587988G>C | CA412353159 | CDKL5 | c.589G>C (p.Val197Leu) n.303G>C c.457G>C (p.Val153Leu) n.841G>C | |
| X | g.18587988G>T | CA412353161 | CDKL5 | c.589G>T (p.Val197Leu) n.303G>T c.457G>T (p.Val153Leu) n.841G>T | |
| X | g.18587989_18587990del | CA2695231316 | CDKL5 | c.590_591del (p.Val197GlyfsTer8) n.304_305del c.458_459del (p.Val153GlyfsTer8) n.842_843del | |
| X | g.18587989T>A | CA412353163 | CDKL5 | c.590T>A (p.Val197Glu) n.304T>A c.458T>A (p.Val153Glu) n.842T>A | |
| X | g.18587989T>C | CA412353164 | CDKL5 | c.590T>C (p.Val197Ala) n.304T>C c.458T>C (p.Val153Ala) n.842T>C | |
| X | g.18587989T>G | CA16608793 | CDKL5 | c.590T>G (p.Val197Gly) n.304T>G c.458T>G (p.Val153Gly) n.842T>G | ClinVar dbSNP |
| X | g.18587989T= | CA2417969117 | CDKL5 | c.590T= (p.Val197=) n.304T= c.458T= (p.Val153=) n.842T= | |
| X | g.18587990G>A | CA515470283 | CDKL5 | c.591G>A (p.Val197=) n.305G>A c.459G>A (p.Val153=) n.843G>A | |
| X | g.18587990G>C | CA515470284 | CDKL5 | c.591G>C (p.Val197=) n.305G>C c.459G>C (p.Val153=) n.843G>C | |
| X | g.18587990G>T | CA515470285 | CDKL5 | c.591G>T (p.Val197=) n.305G>T c.459G>T (p.Val153=) n.843G>T | |
| X | g.18587992del | CA2559228119 | CDKL5 | c.593del (p.Gly198AlafsTer30) n.307del c.461del (p.Gly154AlafsTer30) n.845del | |
| X | g.18587991G>A | CA412353166 | CDKL5 | c.592G>A (p.Gly198Ser) n.306G>A c.460G>A (p.Gly154Ser) n.844G>A | |
| X | g.18587991G>C | CA412353168 | CDKL5 | c.592G>C (p.Gly198Arg) n.306G>C c.460G>C (p.Gly154Arg) n.844G>C | |
| X | g.18587991G>T | CA412353170 | CDKL5 | c.592G>T (p.Gly198Cys) n.306G>T c.460G>T (p.Gly154Cys) n.844G>T | COSMIC |
| X | g.18587992G>A | CA412353172 | CDKL5 | c.593G>A (p.Gly198Asp) n.307G>A c.461G>A (p.Gly154Asp) n.845G>A | ClinVar dbSNP |
| X | g.18587992G>C | CA412353174 | CDKL5 | c.593G>C (p.Gly198Ala) n.307G>C c.461G>C (p.Gly154Ala) n.845G>C | |
| X | g.18587992G= | CA2417969118 | CDKL5 | c.593G= (p.Gly198=) n.307G= c.461G= (p.Gly154=) n.845G= | |
| X | g.18587992G>T | CA412353176 | CDKL5 | c.593G>T (p.Gly198Val) n.307G>T c.461G>T (p.Gly154Val) n.845G>T | |
| X | g.18587993C>A | CA515470286 | CDKL5 | c.594C>A (p.Gly198=) n.308C>A c.462C>A (p.Gly154=) n.846C>A | |
| X | g.18587993C>G | CA515470287 | CDKL5 | c.594C>G (p.Gly198=) n.308C>G c.462C>G (p.Gly154=) n.846C>G | |
| X | g.18587993C>T | CA515470288 | CDKL5 | c.594C>T (p.Gly198=) n.308C>T c.462C>T (p.Gly154=) n.846C>T | |
| X | g.18587994T>A | CA412353182 | CDKL5 | c.595T>A (p.Cys199Ser) n.309T>A c.463T>A (p.Cys155Ser) n.847T>A | |
| X | g.18587994T>C | CA412353178 | CDKL5 | c.595T>C (p.Cys199Arg) n.309T>C c.463T>C (p.Cys155Arg) n.847T>C | ClinVar |
| X | g.18587994T>G | CA412353180 | CDKL5 | c.595T>G (p.Cys199Gly) n.309T>G c.463T>G (p.Cys155Gly) n.847T>G | |
| X | g.18587995G>A | CA412353184 | CDKL5 | c.596G>A (p.Cys199Tyr) n.310G>A c.464G>A (p.Cys155Tyr) n.848G>A | |
| X | g.18587995G>C | CA412353186 | CDKL5 | c.596G>C (p.Cys199Ser) n.310G>C c.464G>C (p.Cys155Ser) n.848G>C | |
| X | g.18587995G>T | CA412353188 | CDKL5 | c.596G>T (p.Cys199Phe) n.310G>T c.464G>T (p.Cys155Phe) n.848G>T | |
| X | g.18587996T>A | CA412353190 | CDKL5 | c.597T>A (p.Cys199Ter) n.311T>A c.465T>A (p.Cys155Ter) n.849T>A | |
| X | g.18587996T>C | CA515470290 | CDKL5 | c.597T>C (p.Cys199=) n.311T>C c.465T>C (p.Cys155=) n.849T>C | ClinVar |
| X | g.18587996T>G | CA412353192 | CDKL5 | c.597T>G (p.Cys199Trp) n.311T>G c.465T>G (p.Cys155Trp) n.849T>G | |
| X | g.18587997A>C | CA412353194 | CDKL5 | c.598A>C (p.Ile200Leu) n.312A>C c.466A>C (p.Ile156Leu) n.850A>C | |
| X | g.18587997A>G | CA412353196 | CDKL5 | c.598A>G (p.Ile200Val) n.312A>G c.466A>G (p.Ile156Val) n.850A>G | |
| X | g.18587997A>T | CA412353198 | CDKL5 | c.598A>T (p.Ile200Phe) n.312A>T c.466A>T (p.Ile156Phe) n.850A>T | |
| X | g.18587998T>A | CA412353200 | CDKL5 | c.599T>A (p.Ile200Asn) n.313T>A c.467T>A (p.Ile156Asn) n.851T>A | ClinVar dbSNP |
| X | g.18587998T>C | CA412353202 | CDKL5 | c.599T>C (p.Ile200Thr) n.313T>C c.467T>C (p.Ile156Thr) n.851T>C | |
| X | g.18587998T>G | CA412353204 | CDKL5 | c.599T>G (p.Ile200Ser) n.313T>G c.467T>G (p.Ile156Ser) n.851T>G | |
| X | g.18588000_18588002del | CA2499226534 | CDKL5 | c.601_603del (p.Leu201del) n.315_317del c.469_471del (p.Leu157del) n.853_855del | ClinVar dbSNP |
| X | g.18587999T>A | CA515470292 | CDKL5 | c.600T>A (p.Ile200=) n.314T>A c.468T>A (p.Ile156=) n.852T>A | |
| X | g.18587999T>C | CA515470293 | CDKL5 | c.600T>C (p.Ile200=) n.314T>C c.468T>C (p.Ile156=) n.852T>C | |
| X | g.18587999T>G | CA412353206 | CDKL5 | c.600T>G (p.Ile200Met) n.314T>G c.468T>G (p.Ile156Met) n.852T>G | |
| X | g.18587999_18588000delinsTC | CA2417969119 | CDKL5 | c.600_601delinsTC (p.Ile200=) n.314_315delinsTC c.468_469delinsTC (p.Ile156=) n.852_853delinsTC | |
| X | g.18588000del | CA1139667239 | CDKL5 | c.601del (p.Glu203SerfsTer25) n.315del c.469del (p.Glu159SerfsTer25) n.853del | ClinVar dbSNP |
| X | g.18588000C>A | CA412353210 | CDKL5 | c.601C>A (p.Leu201Ile) n.315C>A c.469C>A (p.Leu157Ile) n.853C>A | |
| X | g.18588000C>G | CA412353212 | CDKL5 | c.601C>G (p.Leu201Val) n.315C>G c.469C>G (p.Leu157Val) n.853C>G | |
| X | g.18588000C>T | CA412353208 | CDKL5 | c.601C>T (p.Leu201Phe) n.315C>T c.469C>T (p.Leu157Phe) n.853C>T | gnomAD v4 |
| X | g.18588001T>A | CA412353214 | CDKL5 | c.602T>A (p.Leu201His) n.316T>A c.470T>A (p.Leu157His) n.854T>A | |
| X | g.18588001T>C | CA294608 | CDKL5 | c.602T>C (p.Leu201Pro) n.316T>C c.470T>C (p.Leu157Pro) n.854T>C | ClinVar dbSNP |
| X | g.18588001T>G | CA412353217 | CDKL5 | c.602T>G (p.Leu201Arg) n.316T>G c.470T>G (p.Leu157Arg) n.854T>G | |
| X | g.18588001T= | CA2417969120 | CDKL5 | c.602T= (p.Leu201=) n.316T= c.470T= (p.Leu157=) n.854T= | |
| X | g.18588002T>A | CA515470295 | CDKL5 | c.603T>A (p.Leu201=) n.317T>A c.471T>A (p.Leu157=) n.855T>A | |
| X | g.18588002T>C | CA10360291 | CDKL5 | c.603T>C (p.Leu201=) n.317T>C c.471T>C (p.Leu157=) n.855T>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588002T>G | CA515470296 | CDKL5 | c.603T>G (p.Leu201=) n.317T>G c.471T>G (p.Leu157=) n.855T>G | |
| X | g.18588002T= | CA2417969121 | CDKL5 | c.603T= (p.Leu201=) n.317T= c.471T= (p.Leu157=) n.855T= | |
| X | g.18588003G>A | CA412353220 | CDKL5 | c.604G>A (p.Gly202Arg) n.318G>A c.472G>A (p.Gly158Arg) n.856G>A | |
| X | g.18588003G>C | CA412353222 | CDKL5 | c.604G>C (p.Gly202Arg) n.318G>C c.472G>C (p.Gly158Arg) n.856G>C | |
| X | g.18588003G>T | CA412353223 | CDKL5 | c.604G>T (p.Gly202Trp) n.318G>T c.472G>T (p.Gly158Trp) n.856G>T | ClinVar dbSNP |
| X | g.18588004G>A | CA412353226 | CDKL5 | c.605G>A (p.Gly202Glu) n.319G>A c.473G>A (p.Gly158Glu) n.857G>A | ClinVar |
| X | g.18588004G>C | CA412353228 | CDKL5 | c.605G>C (p.Gly202Ala) n.319G>C c.473G>C (p.Gly158Ala) n.857G>C | |
| X | g.18588004G>T | CA412353230 | CDKL5 | c.605G>T (p.Gly202Val) n.319G>T c.473G>T (p.Gly158Val) n.857G>T | |
| X | g.18588005G>A | CA515470299 | CDKL5 | c.606G>A (p.Gly202=) n.320G>A c.474G>A (p.Gly158=) n.858G>A | |
| X | g.18588005G>C | CA515470300 | CDKL5 | c.606G>C (p.Gly202=) n.320G>C c.474G>C (p.Gly158=) n.858G>C | |
| X | g.18588005G>T | CA515470298 | CDKL5 | c.606G>T (p.Gly202=) n.320G>T c.474G>T (p.Gly158=) n.858G>T | |
| X | g.18588006G>A | CA412353232 | CDKL5 | c.607G>A (p.Glu203Lys) n.321G>A c.475G>A (p.Glu159Lys) n.859G>A | |
| X | g.18588006G>C | CA412353234 | CDKL5 | c.607G>C (p.Glu203Gln) n.321G>C c.475G>C (p.Glu159Gln) n.859G>C | |
| X | g.18588006G= | CA2417969122 | CDKL5 | c.607G= (p.Glu203=) n.321G= c.475G= (p.Glu159=) n.859G= | |
| X | g.18588006G>T | CA170498 | CDKL5 | c.607G>T (p.Glu203Ter) n.321G>T c.475G>T (p.Glu159Ter) n.859G>T | ClinVar dbSNP |
| X | g.18588007A= | CA2417969123 | CDKL5 | c.608A= (p.Glu203=) n.322A= c.476A= (p.Glu159=) n.860A= | |
| X | g.18588007A>C | CA412353241 | CDKL5 | c.608A>C (p.Glu203Ala) n.322A>C c.476A>C (p.Glu159Ala) n.860A>C | |
| X | g.18588007A>G | CA412353240 | CDKL5 | c.608A>G (p.Glu203Gly) n.322A>G c.476A>G (p.Glu159Gly) n.860A>G | ClinVar dbSNP |
| X | g.18588007A>T | CA412353238 | CDKL5 | c.608A>T (p.Glu203Val) n.322A>T c.476A>T (p.Glu159Val) n.860A>T | |
| X | g.18588008G>A | CA515470304 | CDKL5 | c.609G>A (p.Glu203=) n.323G>A c.477G>A (p.Glu159=) n.861G>A | |
| X | g.18588008G>C | CA412353244 | CDKL5 | c.609G>C (p.Glu203Asp) n.323G>C c.477G>C (p.Glu159Asp) n.861G>C | ClinVar |
| X | g.18588008G>T | CA412353246 | CDKL5 | c.609G>T (p.Glu203Asp) n.323G>T c.477G>T (p.Glu159Asp) n.861G>T | COSMIC |
| X | g.18588009C>A | CA412353248 | CDKL5 | c.610C>A (p.Leu204Ile) n.324C>A c.478C>A (p.Leu160Ile) n.862C>A | gnomAD v4 |
| X | g.18588009C>G | CA412353250 | CDKL5 | c.610C>G (p.Leu204Val) n.324C>G c.478C>G (p.Leu160Val) n.862C>G | |
| X | g.18588009C>T | CA412353252 | CDKL5 | c.610C>T (p.Leu204Phe) n.324C>T c.478C>T (p.Leu160Phe) n.862C>T | |
| X | g.18588010T>A | CA412353254 | CDKL5 | c.611T>A (p.Leu204His) n.325T>A c.479T>A (p.Leu160His) n.863T>A | |
| X | g.18588010T>C | CA412353255 | CDKL5 | c.611T>C (p.Leu204Pro) n.325T>C c.479T>C (p.Leu160Pro) n.863T>C | |
| X | g.18588010T>G | CA412353257 | CDKL5 | c.611T>G (p.Leu204Arg) n.325T>G c.479T>G (p.Leu160Arg) n.863T>G | ClinVar dbSNP |
| X | g.18588010T= | CA2417969124 | CDKL5 | c.611T= (p.Leu204=) n.325T= c.479T= (p.Leu160=) n.863T= | |
| X | g.18588011T>A | CA515470306 | CDKL5 | c.612T>A (p.Leu204=) n.326T>A c.480T>A (p.Leu160=) n.864T>A | |
| X | g.18588011T>C | CA515470308 | CDKL5 | c.612T>C (p.Leu204=) n.326T>C c.480T>C (p.Leu160=) n.864T>C | |
| X | g.18588011T>G | CA515470307 | CDKL5 | c.612T>G (p.Leu204=) n.326T>G c.480T>G (p.Leu160=) n.864T>G | |
| X | g.18588011T= | CA2417969125 | CDKL5 | c.612T= (p.Leu204=) n.326T= c.480T= (p.Leu160=) n.864T= | |
| X | g.18588012A>C | CA412353260 | CDKL5 | c.613A>C (p.Ser205Arg) n.327A>C c.481A>C (p.Ser161Arg) n.865A>C | |
| X | g.18588012A>G | CA412353261 | CDKL5 | c.613A>G (p.Ser205Gly) n.327A>G c.481A>G (p.Ser161Gly) n.865A>G | |
| X | g.18588012A>T | CA412353263 | CDKL5 | c.613A>T (p.Ser205Cys) n.327A>T c.481A>T (p.Ser161Cys) n.865A>T | gnomAD v4 |
| X | g.18588013_18588016dup | CA658799602 | CDKL5 | c.614_617dup (p.Asp206GlufsTer12) n.328_331dup c.482_485dup (p.Asp162GlufsTer12) n.866_869dup | ClinVar dbSNP |
| X | g.18588013G>A | CA412353266 | CDKL5 | c.614G>A (p.Ser205Asn) n.328G>A c.482G>A (p.Ser161Asn) n.866G>A | |
| X | g.18588013G>C | CA412353267 | CDKL5 | c.614G>C (p.Ser205Thr) n.328G>C c.482G>C (p.Ser161Thr) n.866G>C | |
| X | g.18588013G>T | CA412353269 | CDKL5 | c.614G>T (p.Ser205Ile) n.328G>T c.482G>T (p.Ser161Ile) n.866G>T | |
| X | g.18588014C>A | CA412353273 | CDKL5 | c.615C>A (p.Ser205Arg) n.329C>A c.483C>A (p.Ser161Arg) n.867C>A | |
| X | g.18588014C= | CA2417969126 | CDKL5 | c.615C= (p.Ser205=) n.329C= c.483C= (p.Ser161=) n.867C= | |
| X | g.18588014C>G | CA412353271 | CDKL5 | c.615C>G (p.Ser205Arg) n.329C>G c.483C>G (p.Ser161Arg) n.867C>G | |
| X | g.18588014C>T | CA515470312 | CDKL5 | c.615C>T (p.Ser205=) n.329C>T c.483C>T (p.Ser161=) n.867C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588015G>A | CA412353275 | CDKL5 | c.616G>A (p.Asp206Asn) n.330G>A c.484G>A (p.Asp162Asn) n.868G>A | |
| X | g.18588015G>C | CA412353279 | CDKL5 | c.616G>C (p.Asp206His) n.330G>C c.484G>C (p.Asp162His) n.868G>C | |
| X | g.18588015G= | CA2417969127 | CDKL5 | c.616G= (p.Asp206=) n.330G= c.484G= (p.Asp162=) n.868G= | |
| X | g.18588015G>T | CA412353277 | CDKL5 | c.616G>T (p.Asp206Tyr) n.330G>T c.484G>T (p.Asp162Tyr) n.868G>T | ClinVar dbSNP |
| X | g.18588016A>C | CA412353282 | CDKL5 | c.617A>C (p.Asp206Ala) n.331A>C c.485A>C (p.Asp162Ala) n.869A>C | |
| X | g.18588016A>G | CA412353285 | CDKL5 | c.617A>G (p.Asp206Gly) n.331A>G c.485A>G (p.Asp162Gly) n.869A>G | |
| X | g.18588016A>T | CA412353283 | CDKL5 | c.617A>T (p.Asp206Val) n.331A>T c.485A>T (p.Asp162Val) n.869A>T | |
| X | g.18588017T>A | CA412353287 | CDKL5 | c.618T>A (p.Asp206Glu) n.332T>A c.486T>A (p.Asp162Glu) n.870T>A | |
| X | g.18588017T>C | CA515470313 | CDKL5 | c.618T>C (p.Asp206=) n.332T>C c.486T>C (p.Asp162=) n.870T>C | |
| X | g.18588017T>G | CA412353289 | CDKL5 | c.618T>G (p.Asp206Glu) n.332T>G c.486T>G (p.Asp162Glu) n.870T>G | |
| X | g.18588018G>A | CA412353291 | CDKL5 | c.619G>A (p.Gly207Arg) n.333G>A c.487G>A (p.Gly163Arg) n.871G>A | |
| X | g.18588018G>C | CA412353293 | CDKL5 | c.619G>C (p.Gly207Arg) n.333G>C c.487G>C (p.Gly163Arg) n.871G>C | |
| X | g.18588018G>T | CA412353295 | CDKL5 | c.619G>T (p.Gly207Ter) n.333G>T c.487G>T (p.Gly163Ter) n.871G>T | |
| X | g.18588019G>A | CA412353297 | CDKL5 | c.620G>A (p.Gly207Glu) n.334G>A c.488G>A (p.Gly163Glu) n.872G>A | |
| X | g.18588019G>C | CA412353299 | CDKL5 | c.620G>C (p.Gly207Ala) n.334G>C c.488G>C (p.Gly163Ala) n.872G>C | |
| X | g.18588019G>T | CA412353301 | CDKL5 | c.620G>T (p.Gly207Val) n.334G>T c.488G>T (p.Gly163Val) n.872G>T | ClinVar dbSNP |
| X | g.18588020A= | CA2417969128 | CDKL5 | c.621A= (p.Gly207=) n.335A= c.489A= (p.Gly163=) n.873A= | |
| X | g.18588020A>C | CA515470314 | CDKL5 | c.621A>C (p.Gly207=) n.335A>C c.489A>C (p.Gly163=) n.873A>C | |
| X | g.18588020A>G | CA515470315 | CDKL5 | c.621A>G (p.Gly207=) n.335A>G c.489A>G (p.Gly163=) n.873A>G | |
| X | g.18588020A>T | CA515470316 | CDKL5 | c.621A>T (p.Gly207=) n.335A>T c.489A>T (p.Gly163=) n.873A>T | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| X | g.18588021C>A | CA412353303 | CDKL5 | c.622C>A (p.Gln208Lys) n.336C>A c.490C>A (p.Gln164Lys) n.874C>A | |
| X | g.18588021C= | CA2417969129 | CDKL5 | c.622C= (p.Gln208=) n.336C= c.490C= (p.Gln164=) n.874C= | |
| X | g.18588021C>G | CA412353304 | CDKL5 | c.622C>G (p.Gln208Glu) n.336C>G c.490C>G (p.Gln164Glu) n.874C>G | |
| X | g.18588021C>T | CA171652 | CDKL5 | c.622C>T (p.Gln208Ter) n.336C>T c.490C>T (p.Gln164Ter) n.874C>T | ClinVar dbSNP |