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.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 |
| X | g.18588022del | CA2695231324 | CDKL5 | c.623del (p.Gln208ArgfsTer20) n.337del c.491del (p.Gln164ArgfsTer20) n.875del | |
| X | g.18588022A>C | CA412353311 | CDKL5 | c.623A>C (p.Gln208Pro) n.337A>C c.491A>C (p.Gln164Pro) n.875A>C | |
| X | g.18588022A>G | CA412353308 | CDKL5 | c.623A>G (p.Gln208Arg) n.337A>G c.491A>G (p.Gln164Arg) n.875A>G | |
| X | g.18588022A>T | CA412353310 | CDKL5 | c.623A>T (p.Gln208Leu) n.337A>T c.491A>T (p.Gln164Leu) n.875A>T | |
| X | g.18588023G>A | CA515470317 | CDKL5 | c.624G>A (p.Gln208=) n.338G>A c.492G>A (p.Gln164=) n.876G>A | COSMIC |
| X | g.18588023G>C | CA412353313 | CDKL5 | c.624G>C (p.Gln208His) n.338G>C c.492G>C (p.Gln164His) n.876G>C | |
| X | g.18588023G>T | CA412353314 | CDKL5 | c.624G>T (p.Gln208His) n.338G>T c.492G>T (p.Gln164His) n.876G>T | |
| X | g.18588024C>A | CA412353316 | CDKL5 | c.625C>A (p.Pro209Thr) n.339C>A c.493C>A (p.Pro165Thr) n.877C>A | ClinVar |
| X | g.18588024C>G | CA412353318 | CDKL5 | c.625C>G (p.Pro209Ala) n.339C>G c.493C>G (p.Pro165Ala) n.877C>G | |
| X | g.18588024C>T | CA412353320 | CDKL5 | c.625C>T (p.Pro209Ser) n.339C>T c.493C>T (p.Pro165Ser) n.877C>T | COSMIC |
| X | g.18588025C>A | CA412353322 | CDKL5 | c.626C>A (p.Pro209His) n.340C>A c.494C>A (p.Pro165His) n.878C>A | |
| X | g.18588025C= | CA2417969131 | CDKL5 | c.626C= (p.Pro209=) n.340C= c.494C= (p.Pro165=) n.878C= | |
| X | g.18588025C>G | CA294610 | CDKL5 | c.626C>G (p.Pro209Arg) n.340C>G c.494C>G (p.Pro165Arg) n.878C>G | ClinVar dbSNP |
| X | g.18588025C>T | CA412353325 | CDKL5 | c.626C>T (p.Pro209Leu) n.340C>T c.494C>T (p.Pro165Leu) n.878C>T | |
| X | g.18588025_18588026delinsCT | CA2417969130 | CDKL5 | c.626_627delinsCT (p.Pro209=) n.340_341delinsCT c.494_495delinsCT (p.Pro165=) n.878_879delinsCT | |
| X | g.18588026T>A | CA515470320 | CDKL5 | c.627T>A (p.Pro209=) n.341T>A c.495T>A (p.Pro165=) n.879T>A | |
| X | g.18588026T>C | CA515470319 | CDKL5 | c.627T>C (p.Pro209=) n.341T>C c.495T>C (p.Pro165=) n.879T>C | |
| X | g.18588026T>G | CA515470318 | CDKL5 | c.627T>G (p.Pro209=) n.341T>G c.495T>G (p.Pro165=) n.879T>G | |
| X | g.18588028del | CA658799603 | CDKL5 | c.629del (p.Leu210TyrfsTer18) n.343del c.497del (p.Leu166TyrfsTer18) n.881del | ClinVar dbSNP |
| X | g.18588027T>A | CA412353327 | CDKL5 | c.628T>A (p.Leu210Ile) n.342T>A c.496T>A (p.Leu166Ile) n.880T>A | |
| X | g.18588027T>C | CA515470321 | CDKL5 | c.628T>C (p.Leu210=) n.342T>C c.496T>C (p.Leu166=) n.880T>C | |
| X | g.18588027T>G | CA412353329 | CDKL5 | c.628T>G (p.Leu210Val) n.342T>G c.496T>G (p.Leu166Val) n.880T>G | |
| X | g.18588028T>A | CA412353333 | CDKL5 | c.629T>A (p.Leu210Ter) n.343T>A c.497T>A (p.Leu166Ter) n.881T>A | |
| X | g.18588028T>C | CA412353335 | CDKL5 | c.629T>C (p.Leu210Ser) n.343T>C c.497T>C (p.Leu166Ser) n.881T>C | |
| X | g.18588028T>G | CA412353331 | CDKL5 | c.629T>G (p.Leu210Ter) n.343T>G c.497T>G (p.Leu166Ter) n.881T>G | |
| X | g.18588029_18588030del | CA2580100400 | CDKL5 | c.630_631del (p.Leu210PhefsTer6) n.344_345del c.498_499del (p.Leu166PhefsTer6) n.882_883del | ClinVar |
| X | g.18588029A= | CA2417969132 | CDKL5 | c.630A= (p.Leu210=) n.344A= c.498A= (p.Leu166=) n.882A= | |
| X | g.18588029A>C | CA412353337 | CDKL5 | c.630A>C (p.Leu210Phe) n.344A>C c.498A>C (p.Leu166Phe) n.882A>C | |
| X | g.18588029A>G | CA515470322 | CDKL5 | c.630A>G (p.Leu210=) n.344A>G c.498A>G (p.Leu166=) n.882A>G | dbSNP gnomAD v4 |
| X | g.18588029A>T | CA412353339 | CDKL5 | c.630A>T (p.Leu210Phe) n.344A>T c.498A>T (p.Leu166Phe) n.882A>T | |
| X | g.18588030T>A | CA412353341 | CDKL5 | c.631T>A (p.Phe211Ile) n.345T>A c.499T>A (p.Phe167Ile) n.883T>A | |
| X | g.18588030T>C | CA412353342 | CDKL5 | c.631T>C (p.Phe211Leu) n.345T>C c.499T>C (p.Phe167Leu) n.883T>C | |
| X | g.18588030T>G | CA412353344 | CDKL5 | c.631T>G (p.Phe211Val) n.345T>G c.499T>G (p.Phe167Val) n.883T>G | |
| X | g.18588031T>A | CA412353346 | CDKL5 | c.632T>A (p.Phe211Tyr) n.346T>A c.500T>A (p.Phe167Tyr) n.884T>A | |
| X | g.18588031T>C | CA412353348 | CDKL5 | c.632T>C (p.Phe211Ser) n.346T>C c.500T>C (p.Phe167Ser) n.884T>C | ClinVar dbSNP |
| X | g.18588031T>G | CA412353349 | CDKL5 | c.632T>G (p.Phe211Cys) n.346T>G c.500T>G (p.Phe167Cys) n.884T>G | |
| X | g.18588032T>A | CA412353351 | CDKL5 | c.633T>A (p.Phe211Leu) n.347T>A c.501T>A (p.Phe167Leu) n.885T>A | |
| X | g.18588032T>C | CA515470323 | CDKL5 | c.633T>C (p.Phe211=) n.347T>C c.501T>C (p.Phe167=) n.885T>C | |
| X | g.18588032T>G | CA412353352 | CDKL5 | c.633T>G (p.Phe211Leu) n.347T>G c.501T>G (p.Phe167Leu) n.885T>G | |
| X | g.18588033C>A | CA412353354 | CDKL5 | c.634C>A (p.Pro212Thr) n.348C>A c.502C>A (p.Pro168Thr) n.886C>A | gnomAD v4 |
| X | g.18588033C>G | CA412353356 | CDKL5 | c.634C>G (p.Pro212Ala) n.348C>G c.502C>G (p.Pro168Ala) n.886C>G | |
| X | g.18588033C>T | CA412353358 | CDKL5 | c.634C>T (p.Pro212Ser) n.348C>T c.502C>T (p.Pro168Ser) n.886C>T | |
| X | g.18588034C>A | CA412353364 | CDKL5 | c.635C>A (p.Pro212His) n.349C>A c.503C>A (p.Pro168His) n.887C>A | dbSNP |
| X | g.18588034C>G | CA412353362 | CDKL5 | c.635C>G (p.Pro212Arg) n.349C>G c.503C>G (p.Pro168Arg) n.887C>G | |
| X | g.18588034C>T | CA412353360 | CDKL5 | c.635C>T (p.Pro212Leu) n.349C>T c.503C>T (p.Pro168Leu) n.887C>T | |
| X | g.18588035T>A | CA515470324 | CDKL5 | c.636T>A (p.Pro212=) n.350T>A c.504T>A (p.Pro168=) n.888T>A | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588035T>C | CA326985324 | CDKL5 | c.636T>C (p.Pro212=) n.350T>C c.504T>C (p.Pro168=) n.888T>C | dbSNP |
| X | g.18588035T>G | CA515470325 | CDKL5 | c.636T>G (p.Pro212=) n.350T>G c.504T>G (p.Pro168=) n.888T>G | |
| X | g.18588035T= | CA2417969133 | CDKL5 | c.636T= (p.Pro212=) n.350T= c.504T= (p.Pro168=) n.888T= | |
| X | g.18588036G>A | CA412353368 | CDKL5 | c.637G>A (p.Gly213Arg) n.351G>A c.505G>A (p.Gly169Arg) n.889G>A | ClinVar dbSNP |
| X | g.18588036G>C | CA412353370 | CDKL5 | c.637G>C (p.Gly213Arg) n.351G>C c.505G>C (p.Gly169Arg) n.889G>C | |
| X | g.18588036G>T | CA412353371 | CDKL5 | c.637G>T (p.Gly213Ter) n.351G>T c.505G>T (p.Gly169Ter) n.889G>T | |
| X | g.18588037G>A | CA412353374 | CDKL5 | c.638G>A (p.Gly213Glu) n.352G>A c.506G>A (p.Gly169Glu) n.890G>A | ClinVar dbSNP |
| X | g.18588037G>C | CA412353376 | CDKL5 | c.638G>C (p.Gly213Ala) n.352G>C c.506G>C (p.Gly169Ala) n.890G>C | |
| X | g.18588037G= | CA2417969134 | CDKL5 | c.638G= (p.Gly213=) n.352G= c.506G= (p.Gly169=) n.890G= | |
| X | g.18588037G>T | CA412353377 | CDKL5 | c.638G>T (p.Gly213Val) n.352G>T c.506G>T (p.Gly169Val) n.890G>T | |
| X | g.18588038A= | CA2417969135 | CDKL5 | c.639A= (p.Gly213=) n.353A= c.507A= (p.Gly169=) n.891A= | |
| X | g.18588038A>C | CA515470326 | CDKL5 | c.639A>C (p.Gly213=) n.353A>C c.507A>C (p.Gly169=) n.891A>C | |
| X | g.18588038A>G | CA515470327 | CDKL5 | c.639A>G (p.Gly213=) n.353A>G c.507A>G (p.Gly169=) n.891A>G | |
| X | g.18588038A>T | CA326985325 | CDKL5 | c.639A>T (p.Gly213=) n.353A>T c.507A>T (p.Gly169=) n.891A>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18588039G>A | CA412353380 | CDKL5 | c.640G>A (p.Glu214Lys) n.354G>A c.508G>A (p.Glu170Lys) n.892G>A | |
| X | g.18588039G>C | CA412353381 | CDKL5 | c.640G>C (p.Glu214Gln) n.354G>C c.508G>C (p.Glu170Gln) n.892G>C | |
| X | g.18588039G>T | CA412353383 | CDKL5 | c.640G>T (p.Glu214Ter) n.354G>T c.508G>T (p.Glu170Ter) n.892G>T | |
| X | g.18588040A>C | CA412353385 | CDKL5 | c.641A>C (p.Glu214Ala) n.355A>C c.509A>C (p.Glu170Ala) n.893A>C | |
| X | g.18588040A>G | CA412353387 | CDKL5 | c.641A>G (p.Glu214Gly) n.355A>G c.509A>G (p.Glu170Gly) n.893A>G | |
| X | g.18588040A>T | CA412353388 | CDKL5 | c.641A>T (p.Glu214Val) n.355A>T c.509A>T (p.Glu170Val) n.893A>T | |
| X | g.18588041A>C | CA412353392 | CDKL5 | c.642A>C (p.Glu214Asp) n.356A>C c.510A>C (p.Glu170Asp) n.894A>C | |
| X | g.18588041A>G | CA515470328 | CDKL5 | c.642A>G (p.Glu214=) n.356A>G c.510A>G (p.Glu170=) n.894A>G | |
| X | g.18588041A>T | CA412353391 | CDKL5 | c.642A>T (p.Glu214Asp) n.356A>T c.510A>T (p.Glu170Asp) n.894A>T | |
| X | g.18588042A>C | CA412353394 | CDKL5 | c.643A>C (p.Ser215Arg) n.357A>C c.511A>C (p.Ser171Arg) n.895A>C | |
| X | g.18588042A>G | CA412353396 | CDKL5 | c.643A>G (p.Ser215Gly) n.357A>G c.511A>G (p.Ser171Gly) n.895A>G | |
| X | g.18588042A>T | CA412353398 | CDKL5 | c.643A>T (p.Ser215Cys) n.357A>T c.511A>T (p.Ser171Cys) n.895A>T | |
| X | g.18588043G>A | CA412353400 | CDKL5 | c.644G>A (p.Ser215Asn) n.358G>A c.512G>A (p.Ser171Asn) n.896G>A | |
| X | g.18588043G>C | CA412353402 | CDKL5 | c.644G>C (p.Ser215Thr) n.358G>C c.512G>C (p.Ser171Thr) n.896G>C | |
| X | g.18588043G>T | CA412353404 | CDKL5 | c.644G>T (p.Ser215Ile) n.358G>T c.512G>T (p.Ser171Ile) n.896G>T | |
| X | g.18588044T>A | CA412353406 | CDKL5 | c.645T>A (p.Ser215Arg) n.359T>A c.513T>A (p.Ser171Arg) n.897T>A | |
| X | g.18588044T>C | CA515470329 | CDKL5 | c.645T>C (p.Ser215=) n.359T>C c.513T>C (p.Ser171=) n.897T>C | gnomAD v4 |
| X | g.18588044T>G | CA412353409 | CDKL5 | c.645T>G (p.Ser215Arg) n.359T>G c.513T>G (p.Ser171Arg) n.897T>G | |
| X | g.18588045G>A | CA412353411 | CDKL5 | c.646G>A (p.Glu216Lys) n.360G>A c.514G>A (p.Glu172Lys) n.898G>A | |
| X | g.18588045G>C | CA412353414 | CDKL5 | c.646G>C (p.Glu216Gln) n.360G>C c.514G>C (p.Glu172Gln) n.898G>C | |
| X | g.18588045G>T | CA412353413 | CDKL5 | c.646G>T (p.Glu216Ter) n.360G>T c.514G>T (p.Glu172Ter) n.898G>T | |
| X | g.18588046A>C | CA412353416 | CDKL5 | c.647A>C (p.Glu216Ala) n.361A>C c.515A>C (p.Glu172Ala) n.899A>C | |
| X | g.18588046A>G | CA412353418 | CDKL5 | c.647A>G (p.Glu216Gly) n.361A>G c.515A>G (p.Glu172Gly) n.899A>G | |
| X | g.18588046A>T | CA412353420 | CDKL5 | c.647A>T (p.Glu216Val) n.361A>T c.515A>T (p.Glu172Val) n.899A>T | |
| X | g.18588047A>C | CA412353421 | CDKL5 | c.648A>C (p.Glu216Asp) n.362A>C c.516A>C (p.Glu172Asp) n.900A>C | |
| X | g.18588047A>G | CA515470330 | CDKL5 | c.648A>G (p.Glu216=) n.362A>G c.516A>G (p.Glu172=) n.900A>G | |
| X | g.18588047A>T | CA412353423 | CDKL5 | c.648A>T (p.Glu216Asp) n.362A>T c.516A>T (p.Glu172Asp) n.900A>T | |
| X | g.18588048A>C | CA412353425 | CDKL5 | c.649A>C (p.Ile217Leu) n.363A>C c.517A>C (p.Ile173Leu) n.901A>C | |
| X | g.18588048A>G | CA412353429 | CDKL5 | c.649A>G (p.Ile217Val) n.363A>G c.517A>G (p.Ile173Val) n.901A>G | |
| X | g.18588048A>T | CA412353427 | CDKL5 | c.649A>T (p.Ile217Phe) n.363A>T c.517A>T (p.Ile173Phe) n.901A>T | |
| X | g.18588049T>A | CA412353430 | CDKL5 | c.650T>A (p.Ile217Asn) n.364T>A c.518T>A (p.Ile173Asn) n.902T>A | |
| X | g.18588049T>C | CA412353432 | CDKL5 | c.650T>C (p.Ile217Thr) n.364T>C c.518T>C (p.Ile173Thr) n.902T>C | |
| X | g.18588049T>G | CA412353434 | CDKL5 | c.650T>G (p.Ile217Ser) n.364T>G c.518T>G (p.Ile173Ser) n.902T>G | |
| X | g.18588050T>A | CA515470331 | CDKL5 | c.651T>A (p.Ile217=) n.365T>A c.519T>A (p.Ile173=) n.903T>A | |
| X | g.18588050T>C | CA515470332 | CDKL5 | c.651T>C (p.Ile217=) n.365T>C c.519T>C (p.Ile173=) n.903T>C | |
| X | g.18588050T>G | CA412353436 | CDKL5 | c.651T>G (p.Ile217Met) n.365T>G c.519T>G (p.Ile173Met) n.903T>G | |
| X | g.18588051G>A | CA412353439 | CDKL5 | c.652G>A (p.Asp218Asn) n.366G>A c.520G>A (p.Asp174Asn) n.904G>A | |
| X | g.18588051G>C | CA412353441 | CDKL5 | c.652G>C (p.Asp218His) n.366G>C c.520G>C (p.Asp174His) n.904G>C | |
| X | g.18588051G>T | CA412353443 | CDKL5 | c.652G>T (p.Asp218Tyr) n.366G>T c.520G>T (p.Asp174Tyr) n.904G>T | |
| X | g.18588052A>C | CA412353445 | CDKL5 | c.653A>C (p.Asp218Ala) n.367A>C c.521A>C (p.Asp174Ala) n.905A>C | |
| X | g.18588052A>G | CA412353447 | CDKL5 | c.653A>G (p.Asp218Gly) n.367A>G c.521A>G (p.Asp174Gly) n.905A>G | |
| X | g.18588052A>T | CA412353448 | CDKL5 | c.653A>T (p.Asp218Val) n.367A>T c.521A>T (p.Asp174Val) n.905A>T | |
| X | g.18588053_18588055dup | CA915940358 | CDKL5 | c.654_656dup (p.Asp218_Gln219insHis) n.368_370dup c.522_524dup (p.Asp174_Gln175insHis) n.906_908dup | |
| X | g.18588053C>A | CA412353451 | CDKL5 | c.654C>A (p.Asp218Glu) n.368C>A c.522C>A (p.Asp174Glu) n.906C>A | dbSNP |
| X | g.18588053C>G | CA412353453 | CDKL5 | c.654C>G (p.Asp218Glu) n.368C>G c.522C>G (p.Asp174Glu) n.906C>G | |
| X | g.18588053C>T | CA515470333 | CDKL5 | c.654C>T (p.Asp218=) n.368C>T c.522C>T (p.Asp174=) n.906C>T | |
| X | g.18588054C>A | CA412353455 | CDKL5 | c.655C>A (p.Gln219Lys) n.369C>A c.523C>A (p.Gln175Lys) n.907C>A | |
| X | g.18588054C>G | CA412353458 | CDKL5 | c.655C>G (p.Gln219Glu) n.369C>G c.523C>G (p.Gln175Glu) n.907C>G | |
| X | g.18588054C>T | CA412353457 | CDKL5 | c.655C>T (p.Gln219Ter) n.369C>T c.523C>T (p.Gln175Ter) n.907C>T | |
| X | g.18588055A= | CA2417969136 | CDKL5 | c.656A= (p.Gln219=) n.370A= c.524A= (p.Gln175=) n.908A= | |
| X | g.18588055A>C | CA199370 | CDKL5 | c.656A>C (p.Gln219Pro) n.370A>C c.524A>C (p.Gln175Pro) n.908A>C | ClinVar dbSNP |
| X | g.18588055A>G | CA412353461 | CDKL5 | c.656A>G (p.Gln219Arg) n.370A>G c.524A>G (p.Gln175Arg) n.908A>G | ClinVar |
| X | g.18588055A>T | CA412353463 | CDKL5 | c.656A>T (p.Gln219Leu) n.370A>T c.524A>T (p.Gln175Leu) n.908A>T | |
| X | g.18588056A>C | CA412353464 | CDKL5 | c.657A>C (p.Gln219His) n.371A>C c.525A>C (p.Gln175His) n.909A>C | |
| X | g.18588056A>G | CA515470334 | CDKL5 | c.657A>G (p.Gln219=) n.371A>G c.525A>G (p.Gln175=) n.909A>G | |
| X | g.18588056A>T | CA412353466 | CDKL5 | c.657A>T (p.Gln219His) n.371A>T c.525A>T (p.Gln175His) n.909A>T | |
| X | g.18588057C>A | CA412353468 | CDKL5 | c.658C>A (p.Leu220Ile) n.372C>A c.526C>A (p.Leu176Ile) n.910C>A | |
| X | g.18588057C= | CA2417969137 | CDKL5 | c.658C= (p.Leu220=) n.372C= c.526C= (p.Leu176=) n.910C= | |
| X | g.18588057C>G | CA412353470 | CDKL5 | c.658C>G (p.Leu220Val) n.372C>G c.526C>G (p.Leu176Val) n.910C>G | |
| X | g.18588057C>T | CA412353472 | CDKL5 | c.658C>T (p.Leu220Phe) n.372C>T c.526C>T (p.Leu176Phe) n.910C>T | |
| X | g.18588058T>A | CA412353474 | CDKL5 | c.659T>A (p.Leu220His) n.373T>A c.527T>A (p.Leu176His) n.911T>A | |
| X | g.18588058T>C | CA170500 | CDKL5 | c.659T>C (p.Leu220Pro) n.373T>C c.527T>C (p.Leu176Pro) n.911T>C | ClinVar dbSNP |
| X | g.18588058T>G | CA412353477 | CDKL5 | c.659T>G (p.Leu220Arg) n.373T>G c.527T>G (p.Leu176Arg) n.911T>G | |
| X | g.18588058T= | CA2417969138 | CDKL5 | c.659T= (p.Leu220=) n.373T= c.527T= (p.Leu176=) n.911T= | |
| X | g.18588062dup | CA915950762 | CDKL5 | c.663dup (p.Thr222TyrfsTer12) n.377dup c.531dup (p.Thr178TyrfsTer12) n.915dup | ClinVar dbSNP |
| X | g.18588059T>A | CA515470335 | CDKL5 | c.660T>A (p.Leu220=) n.374T>A c.528T>A (p.Leu176=) n.912T>A | |
| X | g.18588059T>C | CA10360292 | CDKL5 | c.660T>C (p.Leu220=) n.374T>C c.528T>C (p.Leu176=) n.912T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18588059T>G | CA515470336 | CDKL5 | c.660T>G (p.Leu220=) n.374T>G c.528T>G (p.Leu176=) n.912T>G | |
| X | g.18588059T= | CA2417969139 | CDKL5 | c.660T= (p.Leu220=) n.374T= c.528T= (p.Leu176=) n.912T= | |
| X | g.18588059_18588063dup | CA199414 | CDKL5 | c.660_664dup (p.Thr222IlefsTer8) n.374_378dup c.528_532dup (p.Thr178IlefsTer8) n.912_916dup | ClinVar dbSNP |
| X | g.18588060T>A | CA412353485 | CDKL5 | c.661T>A (p.Phe221Ile) n.375T>A c.529T>A (p.Phe177Ile) n.913T>A | |
| X | g.18588060T>C | CA412353482 | CDKL5 | c.661T>C (p.Phe221Leu) n.375T>C c.529T>C (p.Phe177Leu) n.913T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18588060T>G | CA412353483 | CDKL5 | c.661T>G (p.Phe221Val) n.375T>G c.529T>G (p.Phe177Val) n.913T>G | |
| X | g.18588060T= | CA2417969140 | CDKL5 | c.661T= (p.Phe221=) n.375T= c.529T= (p.Phe177=) n.913T= | |
| X | g.18588061T>A | CA412353488 | CDKL5 | c.662T>A (p.Phe221Tyr) n.376T>A c.530T>A (p.Phe177Tyr) n.914T>A | |
| X | g.18588061T>C | CA412353490 | CDKL5 | c.662T>C (p.Phe221Ser) n.376T>C c.530T>C (p.Phe177Ser) n.914T>C | |
| X | g.18588061T>G | CA412353492 | CDKL5 | c.662T>G (p.Phe221Cys) n.376T>G c.530T>G (p.Phe177Cys) n.914T>G | gnomAD v4 |
| X | g.18588062T>A | CA412353494 | CDKL5 | c.663T>A (p.Phe221Leu) n.377T>A c.531T>A (p.Phe177Leu) n.915T>A | |
| X | g.18588062T>C | CA515470337 | CDKL5 | c.663T>C (p.Phe221=) n.377T>C c.531T>C (p.Phe177=) n.915T>C | |
| X | g.18588062T>G | CA412353495 | CDKL5 | c.663T>G (p.Phe221Leu) n.377T>G c.531T>G (p.Phe177Leu) n.915T>G | |
| X | g.18588063A>C | CA412353496 | CDKL5 | c.664A>C (p.Thr222Pro) n.378A>C c.532A>C (p.Thr178Pro) n.916A>C | |
| X | g.18588063A>G | CA412353497 | CDKL5 | c.664A>G (p.Thr222Ala) n.378A>G c.532A>G (p.Thr178Ala) n.916A>G | |
| X | g.18588063A>T | CA412353498 | CDKL5 | c.664A>T (p.Thr222Ser) n.378A>T c.532A>T (p.Thr178Ser) n.916A>T | |
| X | g.18588064del | CA2580100402 | CDKL5 | c.665del (p.Thr222IlefsTer6) n.379del c.533del (p.Thr178IlefsTer6) n.917del | ClinVar |
| X | g.18588064C>A | CA412353499 | CDKL5 | c.665C>A (p.Thr222Asn) n.379C>A c.533C>A (p.Thr178Asn) n.917C>A | |
| X | g.18588064C= | CA2417969141 | CDKL5 | c.665C= (p.Thr222=) n.379C= c.533C= (p.Thr178=) n.917C= | |
| X | g.18588064C>G | CA412353500 | CDKL5 | c.665C>G (p.Thr222Ser) n.379C>G c.533C>G (p.Thr178Ser) n.917C>G | |
| X | g.18588064C>T | CA326985331 | CDKL5 | c.665C>T (p.Thr222Ile) n.379C>T c.533C>T (p.Thr178Ile) n.917C>T | dbSNP |
| X | g.18588064_18588065delinsCT | CA2417969142 | CDKL5 | c.665_666delinsCT (p.Thr222=) n.379_380delinsCT c.533_534delinsCT (p.Thr178=) n.917_918delinsCT | |
| X | g.18588065del | CA891843669 | CDKL5 | c.666del (p.Ile223PhefsTer5) n.380del c.534del (p.Ile179PhefsTer5) n.918del | ClinVar dbSNP |
| X | g.18588065T>A | CA515470338 | CDKL5 | c.666T>A (p.Thr222=) n.380T>A c.534T>A (p.Thr178=) n.918T>A | |
| X | g.18588065T>C | CA515470339 | CDKL5 | c.666T>C (p.Thr222=) n.380T>C c.534T>C (p.Thr178=) n.918T>C | |
| X | g.18588065T>G | CA515470340 | CDKL5 | c.666T>G (p.Thr222=) n.380T>G c.534T>G (p.Thr178=) n.918T>G |