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.18580508_18584414del | CA199399 | CDKL5 | c.403+540_554+61del c.271+540_422+61del n.655+540_806+61del | ClinVar |
| X | g.18584242T>C | CA2693221637 | CDKL5 | c.464-21T>C (n.464-21T>C) c.332-21T>C (n.332-21T>C) n.716-21T>C | gnomAD v4 |
| X | g.18584243T>C | CA2693221638 | CDKL5 | c.464-20T>C (n.464-20T>C) c.332-20T>C (n.332-20T>C) n.716-20T>C | gnomAD v4 |
| X | g.18584244G>A | CA2579562819 | CDKL5 | c.464-19G>A (n.464-19G>A) c.332-19G>A (n.332-19G>A) n.716-19G>A | gnomAD v4 |
| X | g.18584244G>C | CA2693221639 | CDKL5 | c.464-19G>C (n.464-19G>C) c.332-19G>C (n.332-19G>C) n.716-19G>C | gnomAD v4 |
| X | g.18584245del | CA2819901363 | CDKL5 | c.464-18del (n.464-18del) c.332-18del (n.332-18del) n.716-18del | |
| X | g.18584245G>A | CA2693221640 | CDKL5 | c.464-18G>A (n.464-18G>A) c.332-18G>A (n.332-18G>A) n.716-18G>A | gnomAD v4 |
| X | g.18584245G= | CA2417968004 | CDKL5 | c.464-18G= (n.464-18G=) c.332-18G= (n.332-18G=) n.716-18G= | |
| X | g.18584245G>T | CA2417968005 | CDKL5 | c.464-18G>T (n.464-18G>T) c.332-18G>T (n.332-18G>T) n.716-18G>T | dbSNP |
| X | g.18584246A>G | CA2693221641 | CDKL5 | c.464-17A>G (n.464-17A>G) c.332-17A>G (n.332-17A>G) n.716-17A>G | gnomAD v4 |
| X | g.18584247del | CA2693221642 | CDKL5 | c.464-16del (n.464-16del) c.332-16del (n.332-16del) n.716-16del | gnomAD v4 |
| X | g.18584247C>A | CA2693221643 | CDKL5 | c.464-16C>A (n.464-16C>A) c.332-16C>A (n.332-16C>A) n.716-16C>A | gnomAD v4 |
| X | g.18584247C>T | CA2555893574 | CDKL5 | c.464-16C>T (n.464-16C>T) c.332-16C>T (n.332-16C>T) n.716-16C>T | gnomAD v4 |
| X | g.18584250del | CA2579562820 | CDKL5 | c.464-13del (n.464-13del) c.332-13del (n.332-13del) n.716-13del | |
| X | g.18584249T>C | CA2693221644 | CDKL5 | c.464-14T>C (n.464-14T>C) c.332-14T>C (n.332-14T>C) n.716-14T>C | gnomAD v4 |
| X | g.18584250T>C | CA326984686 | CDKL5 | c.464-13T>C (n.464-13T>C) c.332-13T>C (n.332-13T>C) n.716-13T>C | dbSNP gnomAD v4 |
| X | g.18584250T= | CA2417968006 | CDKL5 | c.464-13T= (n.464-13T=) c.332-13T= (n.332-13T=) n.716-13T= | |
| X | g.18584251G>A | CA2693221645 | CDKL5 | c.464-12G>A (n.464-12G>A) c.332-12G>A (n.332-12G>A) n.716-12G>A | gnomAD v4 |
| X | g.18584252C>A | CA2693221646 | CDKL5 | c.464-11C>A (n.464-11C>A) c.332-11C>A (n.332-11C>A) n.716-11C>A | gnomAD v4 |
| X | g.18584252C>T | CA2693221647 | CDKL5 | c.464-11C>T (n.464-11C>T) c.332-11C>T (n.332-11C>T) n.716-11C>T | gnomAD v4 |
| X | g.18584254A= | CA2417968007 | CDKL5 | c.464-9A= (n.464-9A=) c.332-9A= (n.332-9A=) n.716-9A= | |
| X | g.18584254A>C | CA2579562821 | CDKL5 | c.464-9A>C (n.464-9A>C) c.332-9A>C (n.332-9A>C) n.716-9A>C | gnomAD v4 |
| X | g.18584254A>G | CA10360271 | CDKL5 | c.464-9A>G (n.464-9A>G) c.332-9A>G (n.332-9A>G) n.716-9A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584256C>A | CA2693221648 | CDKL5 | c.464-7C>A (n.464-7C>A) c.332-7C>A (n.332-7C>A) n.716-7C>A | gnomAD v4 |
| X | g.18584257T>C | CA2693221649 | CDKL5 | c.464-6T>C (n.464-6T>C) c.332-6T>C (n.332-6T>C) n.716-6T>C | gnomAD v4 |
| X | g.18584258T>C | CA2693221650 | CDKL5 | c.464-5T>C (n.464-5T>C) c.332-5T>C (n.332-5T>C) n.716-5T>C | gnomAD v4 |
| X | g.18584258T>G | CA2579562822 | CDKL5 | c.464-5T>G (n.464-5T>G) c.332-5T>G (n.332-5T>G) n.716-5T>G | |
| X | g.18584259T>C | CA2693221651 | CDKL5 | c.464-4T>C (n.464-4T>C) c.332-4T>C (n.332-4T>C) n.716-4T>C | gnomAD v4 |
| X | g.18584263_18584283del | CA2740097958 | CDKL5 | c.464_484del c.332_352del n.716_736del | |
| X | g.18584260del | CA2579562823 | CDKL5 | c.464-3del (n.464-3del) c.332-3del (n.332-3del) n.716-3del | |
| X | g.18584260C>A | CA2693221652 | CDKL5 | c.464-3C>A (n.464-3C>A) c.332-3C>A (n.332-3C>A) n.716-3C>A | gnomAD v4 |
| X | g.18584260C>G | CA2580100394 | CDKL5 | c.464-3C>G (n.464-3C>G) c.332-3C>G (n.332-3C>G) n.716-3C>G | ClinVar |
| X | g.18584261A= | CA2417968008 | CDKL5 | c.464-2A= (n.464-2A=) c.332-2A= (n.332-2A=) n.716-2A= | |
| X | g.18584261A>C | CA412352081 | CDKL5 | c.464-2A>C (n.464-2A>C) c.332-2A>C (n.332-2A>C) n.716-2A>C | ClinVar dbSNP |
| X | g.18584261A>G | CA199406 | CDKL5 | c.464-2A>G (n.464-2A>G) c.332-2A>G (n.332-2A>G) n.716-2A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18584261A>T | CA412352086 | CDKL5 | c.464-2A>T (n.464-2A>T) c.332-2A>T (n.332-2A>T) n.716-2A>T | |
| X | g.18584262G>A | CA199405 | CDKL5 | c.464-1G>A (n.464-1G>A) c.332-1G>A (n.332-1G>A) n.716-1G>A | ClinVar dbSNP gnomAD v4 |
| X | g.18584262G>C | CA412352089 | CDKL5 | c.464-1G>C (n.464-1G>C) c.332-1G>C (n.332-1G>C) n.716-1G>C | ClinVar dbSNP |
| X | g.18584262G= | CA2417968009 | CDKL5 | c.464-1G= (n.464-1G=) c.332-1G= (n.332-1G=) n.716-1G= | |
| X | g.18584262G>T | CA412352092 | CDKL5 | c.464-1G>T (n.464-1G>T) c.332-1G>T (n.332-1G>T) n.716-1G>T | gnomAD v4 |
| X | g.18584263G>A | CA412352093 | CDKL5 | c.464G>A (p.Gly155Asp) c.332G>A (p.Gly111Asp) n.716G>A | |
| X | g.18584263G>C | CA412352094 | CDKL5 | c.464G>C (p.Gly155Ala) c.332G>C (p.Gly111Ala) n.716G>C | |
| X | g.18584263G>T | CA412352095 | CDKL5 | c.464G>T (p.Gly155Val) c.332G>T (p.Gly111Val) n.716G>T | |
| X | g.18584264T>A | CA515470165 | CDKL5 | c.465T>A (p.Gly155=) c.333T>A (p.Gly111=) n.717T>A | |
| X | g.18584264T>C | CA515470164 | CDKL5 | c.465T>C (p.Gly155=) c.333T>C (p.Gly111=) n.717T>C | |
| X | g.18584264T>G | CA515470163 | CDKL5 | c.465T>G (p.Gly155=) c.333T>G (p.Gly111=) n.717T>G | |
| X | g.18584265T>A | CA412352096 | CDKL5 | c.466T>A (p.Phe156Ile) c.334T>A (p.Phe112Ile) n.718T>A | |
| X | g.18584265T>C | CA412352098 | CDKL5 | c.466T>C (p.Phe156Leu) c.334T>C (p.Phe112Leu) n.718T>C | gnomAD v4 |
| X | g.18584265T>G | CA412352100 | CDKL5 | c.466T>G (p.Phe156Val) c.334T>G (p.Phe112Val) n.718T>G | |
| X | g.18584266T>A | CA412352103 | CDKL5 | c.467T>A (p.Phe156Tyr) c.335T>A (p.Phe112Tyr) n.719T>A | |
| X | g.18584266T>C | CA412352106 | CDKL5 | c.467T>C (p.Phe156Ser) c.335T>C (p.Phe112Ser) n.719T>C | |
| X | g.18584266T>G | CA412352108 | CDKL5 | c.467T>G (p.Phe156Cys) c.335T>G (p.Phe112Cys) n.719T>G | |
| X | g.18584267T>A | CA412352111 | CDKL5 | c.468T>A (p.Phe156Leu) c.336T>A (p.Phe112Leu) n.720T>A | |
| X | g.18584267T>C | CA515470166 | CDKL5 | c.468T>C (p.Phe156=) c.336T>C (p.Phe112=) n.720T>C | |
| X | g.18584267T>G | CA412352113 | CDKL5 | c.468T>G (p.Phe156Leu) c.336T>G (p.Phe112Leu) n.720T>G | |
| X | g.18584268G>A | CA412352123 | CDKL5 | c.469G>A (p.Ala157Thr) c.337G>A (p.Ala113Thr) n.721G>A | gnomAD v4 |
| X | g.18584268G>C | CA412352120 | CDKL5 | c.469G>C (p.Ala157Pro) c.337G>C (p.Ala113Pro) n.721G>C | ClinVar dbSNP |
| X | g.18584268G>T | CA412352117 | CDKL5 | c.469G>T (p.Ala157Ser) c.337G>T (p.Ala113Ser) n.721G>T | |
| X | g.18584269C>A | CA412352126 | CDKL5 | c.470C>A (p.Ala157Asp) c.338C>A (p.Ala113Asp) n.722C>A | gnomAD v4 |
| X | g.18584269C= | CA2417968010 | CDKL5 | c.470C= (p.Ala157=) c.338C= (p.Ala113=) n.722C= | |
| X | g.18584269C>G | CA412352129 | CDKL5 | c.470C>G (p.Ala157Gly) c.338C>G (p.Ala113Gly) n.722C>G | |
| X | g.18584269C>T | CA279171 | CDKL5 | c.470C>T (p.Ala157Val) c.338C>T (p.Ala113Val) n.722C>T | ClinVar dbSNP gnomAD v4 |
| X | g.18584270T>A | CA515470167 | CDKL5 | c.471T>A (p.Ala157=) c.339T>A (p.Ala113=) n.723T>A | |
| X | g.18584270T>C | CA515470168 | CDKL5 | c.471T>C (p.Ala157=) c.339T>C (p.Ala113=) n.723T>C | |
| X | g.18584270T>G | CA515470169 | CDKL5 | c.471T>G (p.Ala157=) c.339T>G (p.Ala113=) n.723T>G | |
| X | g.18584271C>A | CA412352132 | CDKL5 | c.472C>A (p.Arg158Ser) c.340C>A (p.Arg114Ser) n.724C>A | |
| X | g.18584271C>G | CA412352133 | CDKL5 | c.472C>G (p.Arg158Gly) c.340C>G (p.Arg114Gly) n.724C>G | |
| X | g.18584271C>T | CA412352135 | CDKL5 | c.472C>T (p.Arg158Cys) c.340C>T (p.Arg114Cys) n.724C>T | gnomAD v4 |
| X | g.18584272G>A | CA10360272 | CDKL5 | c.473G>A (p.Arg158His) c.341G>A (p.Arg114His) n.725G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18584272G>C | CA199368 | CDKL5 | c.473G>C (p.Arg158Pro) c.341G>C (p.Arg114Pro) n.725G>C | ClinVar dbSNP COSMIC |
| X | g.18584272G= | CA2417968011 | CDKL5 | c.473G= (p.Arg158=) c.341G= (p.Arg114=) n.725G= | |
| X | g.18584272G>T | CA412352141 | CDKL5 | c.473G>T (p.Arg158Leu) c.341G>T (p.Arg114Leu) n.725G>T | |
| X | g.18584273T>A | CA515470170 | CDKL5 | c.474T>A (p.Arg158=) c.342T>A (p.Arg114=) n.726T>A | |
| X | g.18584273T>C | CA515470171 | CDKL5 | c.474T>C (p.Arg158=) c.342T>C (p.Arg114=) n.726T>C | |
| X | g.18584273T>G | CA515470172 | CDKL5 | c.474T>G (p.Arg158=) c.342T>G (p.Arg114=) n.726T>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18584273T= | CA2417968012 | CDKL5 | c.474T= (p.Arg158=) c.342T= (p.Arg114=) n.726T= | |
| X | g.18584274A>C | CA412352146 | CDKL5 | c.475A>C (p.Asn159His) c.343A>C (p.Asn115His) n.727A>C | |
| X | g.18584274A>G | CA412352148 | CDKL5 | c.475A>G (p.Asn159Asp) c.343A>G (p.Asn115Asp) n.727A>G | |
| X | g.18584274A>T | CA412352151 | CDKL5 | c.475A>T (p.Asn159Tyr) c.343A>T (p.Asn115Tyr) n.727A>T | |
| X | g.18584275A>C | CA412352157 | CDKL5 | c.476A>C (p.Asn159Thr) c.344A>C (p.Asn115Thr) n.728A>C | |
| X | g.18584275A>G | CA412352155 | CDKL5 | c.476A>G (p.Asn159Ser) c.344A>G (p.Asn115Ser) n.728A>G | |
| X | g.18584275A>T | CA412352153 | CDKL5 | c.476A>T (p.Asn159Ile) c.344A>T (p.Asn115Ile) n.728A>T | |
| X | g.18584276T>A | CA412352159 | CDKL5 | c.477T>A (p.Asn159Lys) c.345T>A (p.Asn115Lys) n.729T>A | |
| X | g.18584276T>C | CA10360273 | CDKL5 | c.477T>C (p.Asn159=) c.345T>C (p.Asn115=) n.729T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18584276T>G | CA412352162 | CDKL5 | c.477T>G (p.Asn159Lys) c.345T>G (p.Asn115Lys) n.729T>G | |
| X | g.18584276T= | CA2417968013 | CDKL5 | c.477T= (p.Asn159=) c.345T= (p.Asn115=) n.729T= | |
| X | g.18584277C>A | CA412352166 | CDKL5 | c.478C>A (p.Leu160Met) c.346C>A (p.Leu116Met) n.730C>A | |
| X | g.18584277C>G | CA412352168 | CDKL5 | c.478C>G (p.Leu160Val) c.346C>G (p.Leu116Val) n.730C>G | |
| X | g.18584277C>T | CA515470173 | CDKL5 | c.478C>T (p.Leu160=) c.346C>T (p.Leu116=) n.730C>T | |
| X | g.18584278T>A | CA412352171 | CDKL5 | c.479T>A (p.Leu160Gln) c.347T>A (p.Leu116Gln) n.731T>A | |
| X | g.18584278T>C | CA412352172 | CDKL5 | c.479T>C (p.Leu160Pro) c.347T>C (p.Leu116Pro) n.731T>C | gnomAD v4 |
| X | g.18584278T>G | CA412352175 | CDKL5 | c.479T>G (p.Leu160Arg) c.347T>G (p.Leu116Arg) n.731T>G | |
| X | g.18584279G>A | CA10360274 | CDKL5 | c.480G>A (p.Leu160=) c.348G>A (p.Leu116=) n.732G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584279G>C | CA515470175 | CDKL5 | c.480G>C (p.Leu160=) c.348G>C (p.Leu116=) n.732G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584279G= | CA2417968014 | CDKL5 | c.480G= (p.Leu160=) c.348G= (p.Leu116=) n.732G= | |
| X | g.18584279G>T | CA515470174 | CDKL5 | c.480G>T (p.Leu160=) c.348G>T (p.Leu116=) n.732G>T | ClinVar dbSNP |
| X | g.18584280T>A | CA412352179 | CDKL5 | c.481T>A (p.Ser161Thr) c.349T>A (p.Ser117Thr) n.733T>A | |
| X | g.18584280T>C | CA412352182 | CDKL5 | c.481T>C (p.Ser161Pro) c.349T>C (p.Ser117Pro) n.733T>C | |
| X | g.18584280T>G | CA412352185 | CDKL5 | c.481T>G (p.Ser161Ala) c.349T>G (p.Ser117Ala) n.733T>G | |
| X | g.18584281del | CA2579562824 | CDKL5 | c.482del (p.Ser161Ter) c.350del (p.Ser117Ter) n.734del | |
| X | g.18584281C>A | CA412352193 | CDKL5 | c.482C>A (p.Ser161Ter) c.350C>A (p.Ser117Ter) n.734C>A | |
| X | g.18584281C>G | CA412352191 | CDKL5 | c.482C>G (p.Ser161Ter) c.350C>G (p.Ser117Ter) n.734C>G | |
| X | g.18584281C>T | CA412352188 | CDKL5 | c.482C>T (p.Ser161Leu) c.350C>T (p.Ser117Leu) n.734C>T | |
| X | g.18584282A>C | CA515470178 | CDKL5 | c.483A>C (p.Ser161=) c.351A>C (p.Ser117=) n.735A>C | |
| X | g.18584282A>G | CA515470177 | CDKL5 | c.483A>G (p.Ser161=) c.351A>G (p.Ser117=) n.735A>G | |
| X | g.18584282A>T | CA515470176 | CDKL5 | c.483A>T (p.Ser161=) c.351A>T (p.Ser117=) n.735A>T | |
| X | g.18584283G>A | CA412352196 | CDKL5 | c.484G>A (p.Glu162Lys) c.352G>A (p.Glu118Lys) n.736G>A | |
| X | g.18584283G>C | CA412352200 | CDKL5 | c.484G>C (p.Glu162Gln) c.352G>C (p.Glu118Gln) n.736G>C | |
| X | g.18584283G>T | CA412352202 | CDKL5 | c.484G>T (p.Glu162Ter) c.352G>T (p.Glu118Ter) n.736G>T | |
| X | g.18584284A>C | CA412352205 | CDKL5 | c.485A>C (p.Glu162Ala) c.353A>C (p.Glu118Ala) n.737A>C | |
| X | g.18584284A>G | CA412352208 | CDKL5 | c.485A>G (p.Glu162Gly) c.353A>G (p.Glu118Gly) n.737A>G | |
| X | g.18584284A>T | CA412352211 | CDKL5 | c.485A>T (p.Glu162Val) c.353A>T (p.Glu118Val) n.737A>T | |
| X | g.18584285A= | CA2417968015 | CDKL5 | c.486A= (p.Glu162=) c.354A= (p.Glu118=) n.738A= | |
| X | g.18584285A>C | CA10360275 | CDKL5 | c.486A>C (p.Glu162Asp) c.354A>C (p.Glu118Asp) n.738A>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18584285A>G | CA515470179 | CDKL5 | c.486A>G (p.Glu162=) c.354A>G (p.Glu118=) n.738A>G | |
| X | g.18584285A>T | CA412352214 | CDKL5 | c.486A>T (p.Glu162Asp) c.354A>T (p.Glu118Asp) n.738A>T | |
| X | g.18584286G>A | CA412352219 | CDKL5 | c.487G>A (p.Gly163Ser) c.355G>A (p.Gly119Ser) n.739G>A | |
| X | g.18584286G>C | CA412352221 | CDKL5 | c.487G>C (p.Gly163Arg) c.355G>C (p.Gly119Arg) n.739G>C | |
| X | g.18584286G>T | CA412352223 | CDKL5 | c.487G>T (p.Gly163Cys) c.355G>T (p.Gly119Cys) n.739G>T | |
| X | g.18584287G>A | CA412352227 | CDKL5 | c.488G>A (p.Gly163Asp) c.356G>A (p.Gly119Asp) n.740G>A | |
| X | g.18584287G>C | CA412352229 | CDKL5 | c.488G>C (p.Gly163Ala) c.356G>C (p.Gly119Ala) n.740G>C | |
| X | g.18584287G>T | CA412352232 | CDKL5 | c.488G>T (p.Gly163Val) c.356G>T (p.Gly119Val) n.740G>T | |
| X | g.18584288C>A | CA515470180 | CDKL5 | c.489C>A (p.Gly163=) c.357C>A (p.Gly119=) n.741C>A | |
| X | g.18584288C>G | CA515470181 | CDKL5 | c.489C>G (p.Gly163=) c.357C>G (p.Gly119=) n.741C>G | |
| X | g.18584288C>T | CA515470182 | CDKL5 | c.489C>T (p.Gly163=) c.357C>T (p.Gly119=) n.741C>T | |
| X | g.18584289A>C | CA412352242 | CDKL5 | c.490A>C (p.Asn164His) c.358A>C (p.Asn120His) n.742A>C | |
| X | g.18584289A>G | CA412352235 | CDKL5 | c.490A>G (p.Asn164Asp) c.358A>G (p.Asn120Asp) n.742A>G | gnomAD v4 |
| X | g.18584289A>T | CA412352237 | CDKL5 | c.490A>T (p.Asn164Tyr) c.358A>T (p.Asn120Tyr) n.742A>T | |
| X | g.18584290A>C | CA412352245 | CDKL5 | c.491A>C (p.Asn164Thr) c.359A>C (p.Asn120Thr) n.743A>C | |
| X | g.18584290A>G | CA412352247 | CDKL5 | c.491A>G (p.Asn164Ser) c.359A>G (p.Asn120Ser) n.743A>G | gnomAD v4 |
| X | g.18584290A>T | CA412352251 | CDKL5 | c.491A>T (p.Asn164Ile) c.359A>T (p.Asn120Ile) n.743A>T | |
| X | g.18584291T>A | CA412352253 | CDKL5 | c.492T>A (p.Asn164Lys) c.360T>A (p.Asn120Lys) n.744T>A | |
| X | g.18584291T>C | CA515470183 | CDKL5 | c.492T>C (p.Asn164=) c.360T>C (p.Asn120=) n.744T>C | |
| X | g.18584291T>G | CA412352256 | CDKL5 | c.492T>G (p.Asn164Lys) c.360T>G (p.Asn120Lys) n.744T>G | |
| X | g.18584292A>C | CA412352258 | CDKL5 | c.493A>C (p.Asn165His) c.361A>C (p.Asn121His) n.745A>C | |
| X | g.18584292A>G | CA412352262 | CDKL5 | c.493A>G (p.Asn165Asp) c.361A>G (p.Asn121Asp) n.745A>G | |
| X | g.18584292A>T | CA412352264 | CDKL5 | c.493A>T (p.Asn165Tyr) c.361A>T (p.Asn121Tyr) n.745A>T | |
| X | g.18584293A= | CA2417968016 | CDKL5 | c.494A= (p.Asn165=) c.362A= (p.Asn121=) n.746A= | |
| X | g.18584293A>C | CA412352268 | CDKL5 | c.494A>C (p.Asn165Thr) c.362A>C (p.Asn121Thr) n.746A>C | |
| X | g.18584293A>G | CA412352270 | CDKL5 | c.494A>G (p.Asn165Ser) c.362A>G (p.Asn121Ser) n.746A>G | |
| X | g.18584293A>T | CA412352273 | CDKL5 | c.494A>T (p.Asn165Ile) c.362A>T (p.Asn121Ile) n.746A>T | |
| X | g.18584294T>A | CA412352275 | CDKL5 | c.495T>A (p.Asn165Lys) c.363T>A (p.Asn121Lys) n.747T>A | |
| X | g.18584294T>C | CA515470184 | CDKL5 | c.495T>C (p.Asn165=) c.363T>C (p.Asn121=) n.747T>C | |
| X | g.18584294T>G | CA412352276 | CDKL5 | c.495T>G (p.Asn165Lys) c.363T>G (p.Asn121Lys) n.747T>G | |
| X | g.18584294dup | CA916083854 | CDKL5 | c.495dup (p.Ala166CysfsTer2) c.363dup (p.Ala122CysfsTer2) n.747dup | ClinVar dbSNP |
| X | g.18584295G>A | CA412352278 | CDKL5 | c.496G>A (p.Ala166Thr) c.364G>A (p.Ala122Thr) n.748G>A | ClinVar dbSNP gnomAD v4 |
| X | g.18584295G>C | CA412352284 | CDKL5 | c.496G>C (p.Ala166Pro) c.364G>C (p.Ala122Pro) n.748G>C | |
| X | g.18584295G>T | CA412352281 | CDKL5 | c.496G>T (p.Ala166Ser) c.364G>T (p.Ala122Ser) n.748G>T | |
| X | g.18584296C>A | CA412352287 | CDKL5 | c.497C>A (p.Ala166Asp) c.365C>A (p.Ala122Asp) n.749C>A | gnomAD v4 |
| X | g.18584296C= | CA2417968017 | CDKL5 | c.497C= (p.Ala166=) c.365C= (p.Ala122=) n.749C= | |
| X | g.18584296C>G | CA412352290 | CDKL5 | c.497C>G (p.Ala166Gly) c.365C>G (p.Ala122Gly) n.749C>G | dbSNP gnomAD v4 |
| X | g.18584296C>T | CA412352293 | CDKL5 | c.497C>T (p.Ala166Val) c.365C>T (p.Ala122Val) n.749C>T | |
| X | g.18584297T>A | CA515470185 | CDKL5 | c.498T>A (p.Ala166=) c.366T>A (p.Ala122=) n.750T>A | |
| X | g.18584297T>C | CA515470186 | CDKL5 | c.498T>C (p.Ala166=) c.366T>C (p.Ala122=) n.750T>C | |
| X | g.18584297T>G | CA515470187 | CDKL5 | c.498T>G (p.Ala166=) c.366T>G (p.Ala122=) n.750T>G | |
| X | g.18584298A>C | CA412352297 | CDKL5 | c.499A>C (p.Asn167His) c.367A>C (p.Asn123His) n.751A>C | |
| X | g.18584298A>G | CA412352299 | CDKL5 | c.499A>G (p.Asn167Asp) c.367A>G (p.Asn123Asp) n.751A>G | |
| X | g.18584298A>T | CA412352300 | CDKL5 | c.499A>T (p.Asn167Tyr) c.367A>T (p.Asn123Tyr) n.751A>T | |
| X | g.18584299del | CA2579562825 | CDKL5 | c.500del (p.Asn167IlefsTer?) c.368del (p.Asn123IlefsTer?) n.752del | |
| X | g.18584299A>C | CA412352301 | CDKL5 | c.500A>C (p.Asn167Thr) c.368A>C (p.Asn123Thr) n.752A>C | |
| X | g.18584299A>G | CA412352302 | CDKL5 | c.500A>G (p.Asn167Ser) c.368A>G (p.Asn123Ser) n.752A>G | |
| X | g.18584299A>T | CA412352303 | CDKL5 | c.500A>T (p.Asn167Ile) c.368A>T (p.Asn123Ile) n.752A>T | |
| X | g.18584300T>A | CA412352305 | CDKL5 | c.501T>A (p.Asn167Lys) c.369T>A (p.Asn123Lys) n.753T>A | |
| X | g.18584300T>C | CA515470188 | CDKL5 | c.501T>C (p.Asn167=) c.369T>C (p.Asn123=) n.753T>C | |
| X | g.18584300T>G | CA412352308 | CDKL5 | c.501T>G (p.Asn167Lys) c.369T>G (p.Asn123Lys) n.753T>G | |
| X | g.18584301T>A | CA412352317 | CDKL5 | c.502T>A (p.Tyr168Asn) c.370T>A (p.Tyr124Asn) n.754T>A | |
| X | g.18584301T>C | CA412352314 | CDKL5 | c.502T>C (p.Tyr168His) c.370T>C (p.Tyr124His) n.754T>C | |
| X | g.18584301T>G | CA412352311 | CDKL5 | c.502T>G (p.Tyr168Asp) c.370T>G (p.Tyr124Asp) n.754T>G | |
| X | g.18584301_18584303delinsTAC | CA2417968018 | CDKL5 | c.502_504delinsTAC (p.Tyr168=) c.370_372delinsTAC (p.Tyr124=) n.754_756delinsTAC | |
| X | g.18584302A= | CA2417968019 | CDKL5 | c.503A= (p.Tyr168=) c.371A= (p.Tyr124=) n.755A= | |
| X | g.18584302A>C | CA412352321 | CDKL5 | c.503A>C (p.Tyr168Ser) c.371A>C (p.Tyr124Ser) n.755A>C | |
| X | g.18584302A>G | CA326984728 | CDKL5 | c.503A>G (p.Tyr168Cys) c.371A>G (p.Tyr124Cys) n.755A>G | dbSNP |
| X | g.18584302A>T | CA412352326 | CDKL5 | c.503A>T (p.Tyr168Phe) c.371A>T (p.Tyr124Phe) n.755A>T | |
| X | g.18584302dup | CA2740092041 | CDKL5 | c.503dup (p.Tyr168Ter) c.371dup (p.Tyr124Ter) n.755dup | ClinVar |
| X | g.18584305_18584306del | CA199407 | CDKL5 | c.506_507del (p.Thr169ArgfsTer?) c.374_375del (p.Thr125ArgfsTer?) n.758_759del | ClinVar dbSNP |
| X | g.18584303C>A | CA412352331 | CDKL5 | c.504C>A (p.Tyr168Ter) c.372C>A (p.Tyr124Ter) n.756C>A | gnomAD v4 |
| X | g.18584303C>G | CA412352333 | CDKL5 | c.504C>G (p.Tyr168Ter) c.372C>G (p.Tyr124Ter) n.756C>G | |
| X | g.18584303C>T | CA515470189 | CDKL5 | c.504C>T (p.Tyr168=) c.372C>T (p.Tyr124=) n.756C>T | |
| X | g.18584304A>C | CA412352335 | CDKL5 | c.505A>C (p.Thr169Pro) c.373A>C (p.Thr125Pro) n.757A>C | |
| X | g.18584304A>G | CA412352339 | CDKL5 | c.505A>G (p.Thr169Ala) c.373A>G (p.Thr125Ala) n.757A>G | |
| X | g.18584304A>T | CA412352349 | CDKL5 | c.505A>T (p.Thr169Ser) c.373A>T (p.Thr125Ser) n.757A>T | |
| X | g.18584305C>A | CA412352353 | CDKL5 | c.506C>A (p.Thr169Lys) c.374C>A (p.Thr125Lys) n.758C>A | gnomAD v4 |
| X | g.18584305C>G | CA412352355 | CDKL5 | c.506C>G (p.Thr169Arg) c.374C>G (p.Thr125Arg) n.758C>G | |
| X | g.18584305C>T | CA412352356 | CDKL5 | c.506C>T (p.Thr169Ile) c.374C>T (p.Thr125Ile) n.758C>T | |
| X | g.18584306A= | CA2417968020 | CDKL5 | c.507A= (p.Thr169=) c.375A= (p.Thr125=) n.759A= | |
| X | g.18584306A>C | CA515470190 | CDKL5 | c.507A>C (p.Thr169=) c.375A>C (p.Thr125=) n.759A>C | ClinVar dbSNP gnomAD v2 |
| X | g.18584306A>G | CA515470191 | CDKL5 | c.507A>G (p.Thr169=) c.375A>G (p.Thr125=) n.759A>G | |
| X | g.18584306A>T | CA515470192 | CDKL5 | c.507A>T (p.Thr169=) c.375A>T (p.Thr125=) n.759A>T | |
| X | g.18584306dup | CA2580100395 | CDKL5 | c.507dup (p.Glu170ArgfsTer?) c.375dup (p.Glu126ArgfsTer?) n.759dup | ClinVar |
| X | g.18584308_18584309del | CA2695231299 | CDKL5 | c.509_510del (p.Glu170ValfsTer?) c.377_378del (p.Glu126ValfsTer?) n.761_762del | |
| X | g.18584307G>A | CA412352366 | CDKL5 | c.508G>A (p.Glu170Lys) c.376G>A (p.Glu126Lys) n.760G>A | gnomAD v4 |
| X | g.18584307G>C | CA412352363 | CDKL5 | c.508G>C (p.Glu170Gln) c.376G>C (p.Glu126Gln) n.760G>C | |
| X | g.18584307G= | CA2417968021 | CDKL5 | c.508G= (p.Glu170=) c.376G= (p.Glu126=) n.760G= | |
| X | g.18584307G>T | CA412352360 | CDKL5 | c.508G>T (p.Glu170Ter) c.376G>T (p.Glu126Ter) n.760G>T | ClinVar dbSNP |
| X | g.18584308A= | CA2417968022 | CDKL5 | c.509A= (p.Glu170=) c.377A= (p.Glu126=) n.761A= | |
| X | g.18584308A>C | CA412352371 | CDKL5 | c.509A>C (p.Glu170Ala) c.377A>C (p.Glu126Ala) n.761A>C | |
| X | g.18584308A>G | CA412352376 | CDKL5 | c.509A>G (p.Glu170Gly) c.377A>G (p.Glu126Gly) n.761A>G | |
| X | g.18584308A>T | CA412352373 | CDKL5 | c.509A>T (p.Glu170Val) c.377A>T (p.Glu126Val) n.761A>T | |
| X | g.18584309G>A | CA515470193 | CDKL5 | c.510G>A (p.Glu170=) c.378G>A (p.Glu126=) n.762G>A | |
| X | g.18584309G>C | CA412352380 | CDKL5 | c.510G>C (p.Glu170Asp) c.378G>C (p.Glu126Asp) n.762G>C | |
| X | g.18584309G>T | CA412352383 | CDKL5 | c.510G>T (p.Glu170Asp) c.378G>T (p.Glu126Asp) n.762G>T | |
| X | g.18584309_18584310dup | CA199408 | CDKL5 | c.510_511dup (p.Tyr171CysfsTer?) c.378_379dup (p.Tyr127CysfsTer?) n.762_763dup | ClinVar dbSNP |
| X | g.18584310T>A | CA412352386 | CDKL5 | c.511T>A (p.Tyr171Asn) c.379T>A (p.Tyr127Asn) n.763T>A | |
| X | g.18584310T>C | CA412352392 | CDKL5 | c.511T>C (p.Tyr171His) c.379T>C (p.Tyr127His) n.763T>C | |
| X | g.18584310T>G | CA412352389 | CDKL5 | c.511T>G (p.Tyr171Asp) c.379T>G (p.Tyr127Asp) n.763T>G | |
| X | g.18584311A>C | CA412352395 | CDKL5 | c.512A>C (p.Tyr171Ser) c.380A>C (p.Tyr127Ser) n.764A>C | |
| X | g.18584311A>G | CA412352398 | CDKL5 | c.512A>G (p.Tyr171Cys) c.380A>G (p.Tyr127Cys) n.764A>G | |
| X | g.18584311A>T | CA412352400 | CDKL5 | c.512A>T (p.Tyr171Phe) c.380A>T (p.Tyr127Phe) n.764A>T | |
| X | g.18584312C>A | CA171644 | CDKL5 | c.513C>A (p.Tyr171Ter) c.381C>A (p.Tyr127Ter) n.765C>A | ClinVar dbSNP |
| X | g.18584312C= | CA2417968023 | CDKL5 | c.513C= (p.Tyr171=) c.381C= (p.Tyr127=) n.765C= | |
| X | g.18584312C>G | CA412352405 | CDKL5 | c.513C>G (p.Tyr171Ter) c.381C>G (p.Tyr127Ter) n.765C>G | ClinVar dbSNP |
| X | g.18584312C>T | CA326984734 | CDKL5 | c.513C>T (p.Tyr171=) c.381C>T (p.Tyr127=) n.765C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584313G>A | CA204612 | CDKL5 | c.514G>A (p.Val172Ile) c.382G>A (p.Val128Ile) n.766G>A | ClinVar dbSNP gnomAD v4 |
| X | g.18584313G>C | CA412352410 | CDKL5 | c.514G>C (p.Val172Leu) c.382G>C (p.Val128Leu) n.766G>C | |
| X | g.18584313G= | CA2417968024 | CDKL5 | c.514G= (p.Val172=) c.382G= (p.Val128=) n.766G= | |
| X | g.18584313G>T | CA412352413 | CDKL5 | c.514G>T (p.Val172Phe) c.382G>T (p.Val128Phe) n.766G>T | |
| X | g.18584314T>A | CA412352417 | CDKL5 | c.515T>A (p.Val172Asp) c.383T>A (p.Val128Asp) n.767T>A | |
| X | g.18584314T>C | CA412352418 | CDKL5 | c.515T>C (p.Val172Ala) c.383T>C (p.Val128Ala) n.767T>C | |
| X | g.18584314T>G | CA412352420 | CDKL5 | c.515T>G (p.Val172Gly) c.383T>G (p.Val128Gly) n.767T>G | ClinVar |
| X | g.18584315T>A | CA515470194 | CDKL5 | c.516T>A (p.Val172=) c.384T>A (p.Val128=) n.768T>A | |
| X | g.18584315T>C | CA515470195 | CDKL5 | c.516T>C (p.Val172=) c.384T>C (p.Val128=) n.768T>C | |
| X | g.18584315T>G | CA515470196 | CDKL5 | c.516T>G (p.Val172=) c.384T>G (p.Val128=) n.768T>G | |
| X | g.18584316G>A | CA412352430 | CDKL5 | c.517G>A (p.Ala173Thr) c.385G>A (p.Ala129Thr) n.769G>A | |
| X | g.18584316G>C | CA412352424 | CDKL5 | c.517G>C (p.Ala173Pro) c.385G>C (p.Ala129Pro) n.769G>C | |
| X | g.18584316G>T | CA412352427 | CDKL5 | c.517G>T (p.Ala173Ser) c.385G>T (p.Ala129Ser) n.769G>T | |
| X | g.18584317C>A | CA412352434 | CDKL5 | c.518C>A (p.Ala173Asp) c.386C>A (p.Ala129Asp) n.770C>A | |
| X | g.18584317C>G | CA412352435 | CDKL5 | c.518C>G (p.Ala173Gly) c.386C>G (p.Ala129Gly) n.770C>G | |
| X | g.18584317C>T | CA412352437 | CDKL5 | c.518C>T (p.Ala173Val) c.386C>T (p.Ala129Val) n.770C>T | |
| X | g.18584318del | CA2579562826 | CDKL5 | c.519del (p.Thr174ProfsTer?) c.387del (p.Thr130ProfsTer?) n.771del | gnomAD v4 |
| X | g.18584318C>A | CA515470197 | CDKL5 | c.519C>A (p.Ala173=) c.387C>A (p.Ala129=) n.771C>A | |
| X | g.18584318C>G | CA515470198 | CDKL5 | c.519C>G (p.Ala173=) c.387C>G (p.Ala129=) n.771C>G | |
| X | g.18584318C>T | CA515470199 | CDKL5 | c.519C>T (p.Ala173=) c.387C>T (p.Ala129=) n.771C>T | |
| X | g.18584318_18584319delinsCA | CA2417968025 | CDKL5 | c.519_520delinsCA (p.Ala173=) c.387_388delinsCA (p.Ala129=) n.771_772delinsCA | |
| X | g.18584319del | CA915950761 | CDKL5 | c.520del (p.Thr174ProfsTer?) c.388del (p.Thr130ProfsTer?) n.772del | ClinVar dbSNP |
| X | g.18584319A>C | CA412352439 | CDKL5 | c.520A>C (p.Thr174Pro) c.388A>C (p.Thr130Pro) n.772A>C | |
| X | g.18584319A>G | CA412352441 | CDKL5 | c.520A>G (p.Thr174Ala) c.388A>G (p.Thr130Ala) n.772A>G | ClinVar |
| X | g.18584319A>T | CA412352442 | CDKL5 | c.520A>T (p.Thr174Ser) c.388A>T (p.Thr130Ser) n.772A>T | |
| X | g.18584320C>A | CA412352444 | CDKL5 | c.521C>A (p.Thr174Asn) c.389C>A (p.Thr130Asn) n.773C>A | gnomAD v4 |
| X | g.18584320C>G | CA412352446 | CDKL5 | c.521C>G (p.Thr174Ser) c.389C>G (p.Thr130Ser) n.773C>G | |
| X | g.18584320C>T | CA412352447 | CDKL5 | c.521C>T (p.Thr174Ile) c.389C>T (p.Thr130Ile) n.773C>T | |
| X | g.18584321del | CA2579562827 | CDKL5 | c.522del (p.Arg175AspfsTer?) c.390del (p.Arg131AspfsTer?) n.774del | |
| X | g.18584321C>A | CA515470201 | CDKL5 | c.522C>A (p.Thr174=) c.390C>A (p.Thr130=) n.774C>A | |
| X | g.18584321C>G | CA515470202 | CDKL5 | c.522C>G (p.Thr174=) c.390C>G (p.Thr130=) n.774C>G | |
| X | g.18584321C>T | CA515470200 | CDKL5 | c.522C>T (p.Thr174=) c.390C>T (p.Thr130=) n.774C>T | |
| X | g.18584322A= | CA2417968026 | CDKL5 | c.523A= (p.Arg175=) c.391A= (p.Arg131=) n.775A= | |
| X | g.18584322A>C | CA515470203 | CDKL5 | c.523A>C (p.Arg175=) c.391A>C (p.Arg131=) n.775A>C | |
| X | g.18584322A>G | CA412352449 | CDKL5 | c.523A>G (p.Arg175Gly) c.391A>G (p.Arg131Gly) n.775A>G | ClinVar dbSNP |
| X | g.18584322A>T | CA412352451 | CDKL5 | c.523A>T (p.Arg175Ter) c.391A>T (p.Arg131Ter) n.775A>T | |
| X | g.18584323G>A | CA412352455 | CDKL5 | c.524G>A (p.Arg175Lys) c.392G>A (p.Arg131Lys) n.776G>A | ClinVar |
| X | g.18584323G>C | CA412352453 | CDKL5 | c.524G>C (p.Arg175Thr) c.392G>C (p.Arg131Thr) n.776G>C | ClinVar dbSNP |
| X | g.18584323G= | CA2417968027 | CDKL5 | c.524G= (p.Arg175=) c.392G= (p.Arg131=) n.776G= | |
| X | g.18584323G>T | CA16621270 | CDKL5 | c.524G>T (p.Arg175Ile) c.392G>T (p.Arg131Ile) n.776G>T | ClinVar dbSNP |
| X | g.18584324A= | CA2417968028 | CDKL5 | c.525A= (p.Arg175=) c.393A= (p.Arg131=) n.777A= | |
| X | g.18584324A>C | CA412352458 | CDKL5 | c.525A>C (p.Arg175Ser) c.393A>C (p.Arg131Ser) n.777A>C | |
| X | g.18584324A>G | CA515470204 | CDKL5 | c.525A>G (p.Arg175=) c.393A>G (p.Arg131=) n.777A>G | |
| X | g.18584324A>T | CA121517 | CDKL5 | c.525A>T (p.Arg175Ser) c.393A>T (p.Arg131Ser) n.777A>T | ClinVar dbSNP |
| X | g.18584325T>A | CA294603 | CDKL5 | c.526T>A (p.Trp176Arg) c.394T>A (p.Trp132Arg) n.778T>A | ClinVar dbSNP |
| X | g.18584325T>C | CA171646 | CDKL5 | c.526T>C (p.Trp176Arg) c.394T>C (p.Trp132Arg) n.778T>C | ClinVar dbSNP |
| X | g.18584325T>G | CA199409 | CDKL5 | c.526T>G (p.Trp176Gly) c.394T>G (p.Trp132Gly) n.778T>G | ClinVar dbSNP |
| X | g.18584325T= | CA2417968029 | CDKL5 | c.526T= (p.Trp176=) c.394T= (p.Trp132=) n.778T= | |
| X | g.18584326G>A | CA412352463 | CDKL5 | c.527G>A (p.Trp176Ter) c.395G>A (p.Trp132Ter) n.779G>A | ClinVar dbSNP |
| X | g.18584326G>C | CA412352465 | CDKL5 | c.527G>C (p.Trp176Ser) c.395G>C (p.Trp132Ser) n.779G>C | |
| X | g.18584326G>T | CA412352467 | CDKL5 | c.527G>T (p.Trp176Leu) c.395G>T (p.Trp132Leu) n.779G>T | |
| X | g.18584329_18584334del | CA2580617640 | CDKL5 | c.530_535del (p.Tyr177_Arg178del) c.398_403del (p.Tyr133_Arg134del) n.782_787del | ClinVar |
| X | g.18584327G>A | CA412352468 | CDKL5 | c.528G>A (p.Trp176Ter) c.396G>A (p.Trp132Ter) n.780G>A | |
| X | g.18584327G>C | CA412352470 | CDKL5 | c.528G>C (p.Trp176Cys) c.396G>C (p.Trp132Cys) n.780G>C | |
| X | g.18584327G= | CA2417968030 | CDKL5 | c.528G= (p.Trp176=) c.396G= (p.Trp132=) n.780G= | |
| X | g.18584327G>T | CA199411 | CDKL5 | c.528G>T (p.Trp176Cys) c.396G>T (p.Trp132Cys) n.780G>T | ClinVar dbSNP |
| X | g.18584328T>A | CA412352473 | CDKL5 | c.529T>A (p.Tyr177Asn) c.397T>A (p.Tyr133Asn) n.781T>A | |
| X | g.18584328T>C | CA412352475 | CDKL5 | c.529T>C (p.Tyr177His) c.397T>C (p.Tyr133His) n.781T>C | |
| X | g.18584328T>G | CA412352478 | CDKL5 | c.529T>G (p.Tyr177Asp) c.397T>G (p.Tyr133Asp) n.781T>G | |
| X | g.18584329A>C | CA412352484 | CDKL5 | c.530A>C (p.Tyr177Ser) c.398A>C (p.Tyr133Ser) n.782A>C | |
| X | g.18584329A>G | CA412352481 | CDKL5 | c.530A>G (p.Tyr177Cys) c.398A>G (p.Tyr133Cys) n.782A>G | ClinVar dbSNP gnomAD v4 COSMIC |
| X | g.18584329A>T | CA412352482 | CDKL5 | c.530A>T (p.Tyr177Phe) c.398A>T (p.Tyr133Phe) n.782A>T | |
| X | g.18584330T>A | CA412352486 | CDKL5 | c.531T>A (p.Tyr177Ter) c.399T>A (p.Tyr133Ter) n.783T>A | |
| X | g.18584330T>C | CA515470205 | CDKL5 | c.531T>C (p.Tyr177=) c.399T>C (p.Tyr133=) n.783T>C | |
| X | g.18584330T>G | CA412352488 | CDKL5 | c.531T>G (p.Tyr177Ter) c.399T>G (p.Tyr133Ter) n.783T>G | |
| X | g.18584332_18584335dup | CA2580100396 | CDKL5 | c.533_536dup (p.Pro180ValfsTer27) c.401_404dup (p.Pro136ValfsTer27) n.785_788dup | ClinVar |
| X | g.18584331C>A | CA10360276 | CDKL5 | c.532C>A (p.Arg178=) c.400C>A (p.Arg134=) n.784C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18584331C= | CA2417968031 | CDKL5 | c.532C= (p.Arg178=) c.400C= (p.Arg134=) n.784C= | |
| X | g.18584331C>G | CA412352491 | CDKL5 | c.532C>G (p.Arg178Gly) c.400C>G (p.Arg134Gly) n.784C>G | ClinVar dbSNP |
| X | g.18584331C>T | CA199283 | CDKL5 | c.532C>T (p.Arg178Trp) c.400C>T (p.Arg134Trp) n.784C>T | ClinVar dbSNP gnomAD v4 |
| 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 |