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.18579890C>A | CA412349996 | CDKL5 | c.325C>A (p.Pro109Thr) c.193C>A (p.Pro65Thr) n.577C>A | |
| X | g.18579890C>G | CA412349999 | CDKL5 | c.325C>G (p.Pro109Ala) c.193C>G (p.Pro65Ala) n.577C>G | |
| X | g.18579890C>T | CA412350002 | CDKL5 | c.325C>T (p.Pro109Ser) c.193C>T (p.Pro65Ser) n.577C>T | |
| X | g.18579890_18579891del | CA2559486819 | CDKL5 | c.325_326del (p.Pro109Ter) c.193_194del (p.Pro65Ter) n.577_578del | |
| X | g.18579891C>A | CA412350005 | CDKL5 | c.326C>A (p.Pro109His) c.194C>A (p.Pro65His) n.578C>A | |
| X | g.18579891C>G | CA412350008 | CDKL5 | c.326C>G (p.Pro109Arg) c.194C>G (p.Pro65Arg) n.578C>G | |
| X | g.18579891C>T | CA412350011 | CDKL5 | c.326C>T (p.Pro109Leu) c.194C>T (p.Pro65Leu) n.578C>T | |
| X | g.18579892T>A | CA10360247 | CDKL5 | c.327T>A (p.Pro109=) c.195T>A (p.Pro65=) n.579T>A | dbSNP ExAC gnomAD v2 |
| X | g.18579892T>C | CA515470089 | CDKL5 | c.327T>C (p.Pro109=) c.195T>C (p.Pro65=) n.579T>C | gnomAD v4 |
| X | g.18579892T>G | CA515470090 | CDKL5 | c.327T>G (p.Pro109=) c.195T>G (p.Pro65=) n.579T>G | |
| X | g.18579892T= | CA2417966729 | CDKL5 | c.327T= (p.Pro109=) c.195T= (p.Pro65=) n.579T= | |
| X | g.18579893G>A | CA412350016 | CDKL5 | c.328G>A (p.Glu110Lys) c.196G>A (p.Glu66Lys) n.580G>A | |
| X | g.18579893G>C | CA412350023 | CDKL5 | c.328G>C (p.Glu110Gln) c.196G>C (p.Glu66Gln) n.580G>C | |
| X | g.18579893G>T | CA412350019 | CDKL5 | c.328G>T (p.Glu110Ter) c.196G>T (p.Glu66Ter) n.580G>T | |
| X | g.18579894A>C | CA412350026 | CDKL5 | c.329A>C (p.Glu110Ala) c.197A>C (p.Glu66Ala) n.581A>C | |
| X | g.18579894A>G | CA412350029 | CDKL5 | c.329A>G (p.Glu110Gly) c.197A>G (p.Glu66Gly) n.581A>G | |
| X | g.18579894A>T | CA412350032 | CDKL5 | c.329A>T (p.Glu110Val) c.197A>T (p.Glu66Val) n.581A>T | |
| X | g.18579894_18579895insC | CA2561948146 | CDKL5 | c.329_330insC (p.Glu110AspfsTer19) c.197_198insC (p.Glu66AspfsTer19) n.581_582insC | |
| X | g.18579894_18579895insCG | CA2568789978 | CDKL5 | c.329_330insCG (p.Glu110AspfsTer4) c.197_198insCG (p.Glu66AspfsTer4) n.581_582insCG | |
| X | g.18579895G>A | CA515470091 | CDKL5 | c.330G>A (p.Glu110=) c.198G>A (p.Glu66=) n.582G>A | |
| X | g.18579895G>C | CA412350035 | CDKL5 | c.330G>C (p.Glu110Asp) c.198G>C (p.Glu66Asp) n.582G>C | |
| X | g.18579895G>T | CA412350037 | CDKL5 | c.330G>T (p.Glu110Asp) c.198G>T (p.Glu66Asp) n.582G>T | gnomAD v4 |
| X | g.18579896A>C | CA412350042 | CDKL5 | c.331A>C (p.Lys111Gln) c.199A>C (p.Lys67Gln) n.583A>C | |
| X | g.18579896A>G | CA412350046 | CDKL5 | c.331A>G (p.Lys111Glu) c.199A>G (p.Lys67Glu) n.583A>G | |
| X | g.18579896A>T | CA412350045 | CDKL5 | c.331A>T (p.Lys111Ter) c.199A>T (p.Lys67Ter) n.583A>T | |
| X | g.18579897A>C | CA412350049 | CDKL5 | c.332A>C (p.Lys111Thr) c.200A>C (p.Lys67Thr) n.584A>C | |
| X | g.18579897A>G | CA412350051 | CDKL5 | c.332A>G (p.Lys111Arg) c.200A>G (p.Lys67Arg) n.584A>G | |
| X | g.18579897A>T | CA412350054 | CDKL5 | c.332A>T (p.Lys111Ile) c.200A>T (p.Lys67Ile) n.584A>T | |
| X | g.18579897_18579899del | CA2539271137 | CDKL5 | c.332_334del (p.Lys111_Val112delinsIle) c.200_202del (p.Lys67_Val68delinsIle) n.584_586del | |
| X | g.18579898A= | CA2417966730 | CDKL5 | c.333A= (p.Lys111=) c.201A= (p.Lys67=) n.585A= | |
| X | g.18579898A>C | CA412350056 | CDKL5 | c.333A>C (p.Lys111Asn) c.201A>C (p.Lys67Asn) n.585A>C | |
| X | g.18579898A>G | CA199344 | CDKL5 | c.333A>G (p.Lys111=) c.201A>G (p.Lys67=) n.585A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579898A>T | CA412350059 | CDKL5 | c.333A>T (p.Lys111Asn) c.201A>T (p.Lys67Asn) n.585A>T | |
| X | g.18579899G>A | CA412350061 | CDKL5 | c.334G>A (p.Val112Ile) c.202G>A (p.Val68Ile) n.586G>A | |
| X | g.18579899G>C | CA412350063 | CDKL5 | c.334G>C (p.Val112Leu) c.202G>C (p.Val68Leu) n.586G>C | |
| X | g.18579899G>T | CA412350064 | CDKL5 | c.334G>T (p.Val112Leu) c.202G>T (p.Val68Leu) n.586G>T | |
| X | g.18579900T>A | CA412350066 | CDKL5 | c.335T>A (p.Val112Glu) c.203T>A (p.Val68Glu) n.587T>A | |
| X | g.18579900T>C | CA412350068 | CDKL5 | c.335T>C (p.Val112Ala) c.203T>C (p.Val68Ala) n.587T>C | |
| X | g.18579900T>G | CA412350069 | CDKL5 | c.335T>G (p.Val112Gly) c.203T>G (p.Val68Gly) n.587T>G | |
| X | g.18579901A>C | CA515470094 | CDKL5 | c.336A>C (p.Val112=) c.204A>C (p.Val68=) n.588A>C | |
| X | g.18579901A>G | CA515470093 | CDKL5 | c.336A>G (p.Val112=) c.204A>G (p.Val68=) n.588A>G | |
| X | g.18579901A>T | CA515470092 | CDKL5 | c.336A>T (p.Val112=) c.204A>T (p.Val68=) n.588A>T | |
| X | g.18579901_18579906del | CA2523520944 | CDKL5 | c.336_341del (p.Lys113_Ser114del) c.204_209del (p.Lys69_Ser70del) n.588_593del | |
| X | g.18579902_18579911del | CA2552900098 | CDKL5 | c.337_346del (p.Lys113SerfsTer4) c.205_214del (p.Lys69SerfsTer4) n.589_598del | |
| X | g.18579902A>C | CA412350075 | CDKL5 | c.337A>C (p.Lys113Gln) c.205A>C (p.Lys69Gln) n.589A>C | |
| X | g.18579902A>G | CA412350072 | CDKL5 | c.337A>G (p.Lys113Glu) c.205A>G (p.Lys69Glu) n.589A>G | |
| X | g.18579902A>T | CA412350073 | CDKL5 | c.337A>T (p.Lys113Ter) c.205A>T (p.Lys69Ter) n.589A>T | |
| X | g.18579903A>C | CA412350077 | CDKL5 | c.338A>C (p.Lys113Thr) c.206A>C (p.Lys69Thr) n.590A>C | |
| X | g.18579903A>G | CA412350079 | CDKL5 | c.338A>G (p.Lys113Arg) c.206A>G (p.Lys69Arg) n.590A>G | |
| X | g.18579903A>T | CA412350080 | CDKL5 | c.338A>T (p.Lys113Ile) c.206A>T (p.Lys69Ile) n.590A>T | |
| X | g.18579904A= | CA2417966731 | CDKL5 | c.339A= (p.Lys113=) c.207A= (p.Lys69=) n.591A= | |
| X | g.18579904A>C | CA412350082 | CDKL5 | c.339A>C (p.Lys113Asn) c.207A>C (p.Lys69Asn) n.591A>C | |
| X | g.18579904A>G | CA10360248 | CDKL5 | c.339A>G (p.Lys113=) c.207A>G (p.Lys69=) n.591A>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579904A>T | CA412350084 | CDKL5 | c.339A>T (p.Lys113Asn) c.207A>T (p.Lys69Asn) n.591A>T | |
| X | g.18579905A>C | CA412350091 | CDKL5 | c.340A>C (p.Ser114Arg) c.208A>C (p.Ser70Arg) n.592A>C | |
| X | g.18579905A>G | CA412350087 | CDKL5 | c.340A>G (p.Ser114Gly) c.208A>G (p.Ser70Gly) n.592A>G | COSMIC |
| X | g.18579905A>T | CA412350088 | CDKL5 | c.340A>T (p.Ser114Cys) c.208A>T (p.Ser70Cys) n.592A>T | |
| X | g.18579906del | CA2695231282 | CDKL5 | c.341del (p.Ser114ThrfsTer6) c.209del (p.Ser70ThrfsTer6) n.593del | |
| X | g.18579906G>A | CA412350093 | CDKL5 | c.341G>A (p.Ser114Asn) c.209G>A (p.Ser70Asn) n.593G>A | |
| X | g.18579906G>C | CA412350095 | CDKL5 | c.341G>C (p.Ser114Thr) c.209G>C (p.Ser70Thr) n.593G>C | |
| X | g.18579906G>T | CA412350097 | CDKL5 | c.341G>T (p.Ser114Ile) c.209G>T (p.Ser70Ile) n.593G>T | |
| X | g.18579907C>A | CA412350099 | CDKL5 | c.342C>A (p.Ser114Arg) c.210C>A (p.Ser70Arg) n.594C>A | |
| X | g.18579907C>G | CA412350101 | CDKL5 | c.342C>G (p.Ser114Arg) c.210C>G (p.Ser70Arg) n.594C>G | |
| X | g.18579907C>T | CA515470095 | CDKL5 | c.342C>T (p.Ser114=) c.210C>T (p.Ser70=) n.594C>T | gnomAD v4 |
| X | g.18579908T>A | CA412350107 | CDKL5 | c.343T>A (p.Tyr115Asn) c.211T>A (p.Tyr71Asn) n.595T>A | ClinVar dbSNP |
| X | g.18579908T>C | CA412350104 | CDKL5 | c.343T>C (p.Tyr115His) c.211T>C (p.Tyr71His) n.595T>C | |
| X | g.18579908T>G | CA412350106 | CDKL5 | c.343T>G (p.Tyr115Asp) c.211T>G (p.Tyr71Asp) n.595T>G | |
| X | g.18579908T= | CA2417966732 | CDKL5 | c.343T= (p.Tyr115=) c.211T= (p.Tyr71=) n.595T= | |
| X | g.18579909A= | CA2417966733 | CDKL5 | c.344A= (p.Tyr115=) c.212A= (p.Tyr71=) n.596A= | |
| X | g.18579909A>C | CA412350110 | CDKL5 | c.344A>C (p.Tyr115Ser) c.212A>C (p.Tyr71Ser) n.596A>C | |
| X | g.18579909A>G | CA412350111 | CDKL5 | c.344A>G (p.Tyr115Cys) c.212A>G (p.Tyr71Cys) n.596A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579909A>T | CA412350113 | CDKL5 | c.344A>T (p.Tyr115Phe) c.212A>T (p.Tyr71Phe) n.596A>T | |
| X | g.18579909dup | CA2695231283 | CDKL5 | c.344dup (p.Tyr115Ter) c.212dup (p.Tyr71Ter) n.596dup | |
| X | g.18579909_18579927del | CA2570061514 | CDKL5 | c.344_362del (p.Tyr115TrpfsTer16) c.212_230del (p.Tyr71TrpfsTer16) n.596_614del | |
| X | g.18579910C>A | CA412350115 | CDKL5 | c.345C>A (p.Tyr115Ter) c.213C>A (p.Tyr71Ter) n.597C>A | |
| X | g.18579910C>G | CA412350117 | CDKL5 | c.345C>G (p.Tyr115Ter) c.213C>G (p.Tyr71Ter) n.597C>G | |
| X | g.18579910C>T | CA515470096 | CDKL5 | c.345C>T (p.Tyr115=) c.213C>T (p.Tyr71=) n.597C>T | gnomAD v4 |
| X | g.18579911A= | CA2417966734 | CDKL5 | c.346A= (p.Ile116=) c.214A= (p.Ile72=) n.598A= | |
| X | g.18579911A>C | CA412350119 | CDKL5 | c.346A>C (p.Ile116Leu) c.214A>C (p.Ile72Leu) n.598A>C | |
| X | g.18579911A>G | CA412350122 | CDKL5 | c.346A>G (p.Ile116Val) c.214A>G (p.Ile72Val) n.598A>G | dbSNP gnomAD v4 |
| X | g.18579911A>T | CA412350123 | CDKL5 | c.346A>T (p.Ile116Phe) c.214A>T (p.Ile72Phe) n.598A>T | |
| X | g.18579914_18579917del | CA2573158449 | CDKL5 | c.349_352del (p.Tyr117SerfsTer2) c.217_220del (p.Tyr73SerfsTer2) n.601_604del | ClinVar dbSNP |
| X | g.18579912T>A | CA412350126 | CDKL5 | c.347T>A (p.Ile116Asn) c.215T>A (p.Ile72Asn) n.599T>A | |
| X | g.18579912T>C | CA412350127 | CDKL5 | c.347T>C (p.Ile116Thr) c.215T>C (p.Ile72Thr) n.599T>C | |
| X | g.18579912T>G | CA412350129 | CDKL5 | c.347T>G (p.Ile116Ser) c.215T>G (p.Ile72Ser) n.599T>G | |
| X | g.18579913C>A | CA515470097 | CDKL5 | c.348C>A (p.Ile116=) c.216C>A (p.Ile72=) n.600C>A | |
| X | g.18579913C= | CA2417966735 | CDKL5 | c.348C= (p.Ile116=) c.216C= (p.Ile72=) n.600C= | |
| X | g.18579913C>G | CA412350132 | CDKL5 | c.348C>G (p.Ile116Met) c.216C>G (p.Ile72Met) n.600C>G | |
| X | g.18579913C>T | CA515470098 | CDKL5 | c.348C>T (p.Ile116=) c.216C>T (p.Ile72=) n.600C>T | |
| X | g.18579914T>A | CA412350135 | CDKL5 | c.349T>A (p.Tyr117Asn) c.217T>A (p.Tyr73Asn) n.601T>A | |
| X | g.18579914T>C | CA412350138 | CDKL5 | c.349T>C (p.Tyr117His) c.217T>C (p.Tyr73His) n.601T>C | |
| X | g.18579914T>G | CA412350136 | CDKL5 | c.349T>G (p.Tyr117Asp) c.217T>G (p.Tyr73Asp) n.601T>G | |
| X | g.18579914dup | CA916083851 | CDKL5 | c.349dup (p.Tyr117LeufsTer12) c.217dup (p.Tyr73LeufsTer12) n.601dup | ClinVar dbSNP |
| X | g.18579914_18579922delinsTATCAGCTA | CA2417966736 | CDKL5 | c.349_357delinsTATCAGCTA (p.Tyr117=) c.217_225delinsTATCAGCTA (p.Tyr73=) n.601_609delinsTATCAGCTA | |
| X | g.18579915A= | CA2417966737 | CDKL5 | c.350A= (p.Tyr117=) c.218A= (p.Tyr73=) n.602A= | |
| X | g.18579915A>C | CA412350139 | CDKL5 | c.350A>C (p.Tyr117Ser) c.218A>C (p.Tyr73Ser) n.602A>C | |
| X | g.18579915A>G | CA412350143 | CDKL5 | c.350A>G (p.Tyr117Cys) c.218A>G (p.Tyr73Cys) n.602A>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579915A>T | CA412350141 | CDKL5 | c.350A>T (p.Tyr117Phe) c.218A>T (p.Tyr73Phe) n.602A>T | |
| X | g.18579915dup | CA2580100384 | CDKL5 | c.350dup (p.Tyr117Ter) c.218dup (p.Tyr73Ter) n.602dup | ClinVar |
| X | g.18579919_18579926del | CA916083852 | CDKL5 | c.354_361del (p.Leu119GlyfsTer7) c.222_229del (p.Leu75GlyfsTer7) n.606_613del | ClinVar dbSNP |
| X | g.18579915_18579927del | CA2520791320 | CDKL5 | c.350_362del (p.Tyr117TrpfsTer16) c.218_230del (p.Tyr73TrpfsTer16) n.602_614del | |
| X | g.18579916T>A | CA294591 | CDKL5 | c.351T>A (p.Tyr117Ter) c.219T>A (p.Tyr73Ter) n.603T>A | ClinVar dbSNP |
| X | g.18579916T>C | CA515470099 | CDKL5 | c.351T>C (p.Tyr117=) c.219T>C (p.Tyr73=) n.603T>C | |
| X | g.18579916T>G | CA412350146 | CDKL5 | c.351T>G (p.Tyr117Ter) c.219T>G (p.Tyr73Ter) n.603T>G | |
| X | g.18579916T= | CA2417966738 | CDKL5 | c.351T= (p.Tyr117=) c.219T= (p.Tyr73=) n.603T= | |
| X | g.18579917C>A | CA412350148 | CDKL5 | c.352C>A (p.Gln118Lys) c.220C>A (p.Gln74Lys) n.604C>A | |
| X | g.18579917C= | CA2417966739 | CDKL5 | c.352C= (p.Gln118=) c.220C= (p.Gln74=) n.604C= | |
| X | g.18579917C>G | CA412350150 | CDKL5 | c.352C>G (p.Gln118Glu) c.220C>G (p.Gln74Glu) n.604C>G | |
| X | g.18579917C>T | CA170489 | CDKL5 | c.352C>T (p.Gln118Ter) c.220C>T (p.Gln74Ter) n.604C>T | ClinVar dbSNP |
| X | g.18579918A= | CA2417966741 | CDKL5 | c.353A= (p.Gln118=) c.221A= (p.Gln74=) n.605A= | |
| X | g.18579918A>C | CA412350153 | CDKL5 | c.353A>C (p.Gln118Pro) c.221A>C (p.Gln74Pro) n.605A>C | |
| X | g.18579918A>G | CA279646 | CDKL5 | c.353A>G (p.Gln118Arg) c.221A>G (p.Gln74Arg) n.605A>G | ClinVar dbSNP |
| X | g.18579918A>T | CA412350156 | CDKL5 | c.353A>T (p.Gln118Leu) c.221A>T (p.Gln74Leu) n.605A>T | |
| X | g.18579918_18579928delinsAGCTAATCAAG | CA2417966740 | CDKL5 | c.353_363delinsAGCTAATCAAG (p.Gln118=) c.221_231delinsAGCTAATCAAG (p.Gln74=) n.605_615delinsAGCTAATCAAG | |
| X | g.18579919G>A | CA515470100 | CDKL5 | c.354G>A (p.Gln118=) c.222G>A (p.Gln74=) n.606G>A | |
| X | g.18579919G>C | CA412350158 | CDKL5 | c.354G>C (p.Gln118His) c.222G>C (p.Gln74His) n.606G>C | |
| X | g.18579919G>T | CA412350160 | CDKL5 | c.354G>T (p.Gln118His) c.222G>T (p.Gln74His) n.606G>T | |
| X | g.18579923_18579932del | CA1139667237 | CDKL5 | c.358_367del (p.Ile120PhefsTer14) c.226_235del (p.Ile76PhefsTer14) n.610_619del | ClinVar dbSNP |
| X | g.18579920C>A | CA412350162 | CDKL5 | c.355C>A (p.Leu119Ile) c.223C>A (p.Leu75Ile) n.607C>A | |
| X | g.18579920C>G | CA412350163 | CDKL5 | c.355C>G (p.Leu119Val) c.223C>G (p.Leu75Val) n.607C>G | |
| X | g.18579920C>T | CA515470101 | CDKL5 | c.355C>T (p.Leu119=) c.223C>T (p.Leu75=) n.607C>T | |
| X | g.18579921T>A | CA412350165 | CDKL5 | c.356T>A (p.Leu119Gln) c.224T>A (p.Leu75Gln) n.608T>A | |
| X | g.18579921T>C | CA412350168 | CDKL5 | c.356T>C (p.Leu119Pro) c.224T>C (p.Leu75Pro) n.608T>C | |
| X | g.18579921T>G | CA294593 | CDKL5 | c.356T>G (p.Leu119Arg) c.224T>G (p.Leu75Arg) n.608T>G | ClinVar dbSNP |
| X | g.18579921T= | CA2417966742 | CDKL5 | c.356T= (p.Leu119=) c.224T= (p.Leu75=) n.608T= | |
| X | g.18579922A= | CA2417966743 | CDKL5 | c.357A= (p.Leu119=) c.225A= (p.Leu75=) n.609A= | |
| X | g.18579922A>C | CA515470102 | CDKL5 | c.357A>C (p.Leu119=) c.225A>C (p.Leu75=) n.609A>C | |
| X | g.18579922A>G | CA515470103 | CDKL5 | c.357A>G (p.Leu119=) c.225A>G (p.Leu75=) n.609A>G | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| X | g.18579922A>T | CA515470104 | CDKL5 | c.357A>T (p.Leu119=) c.225A>T (p.Leu75=) n.609A>T | |
| X | g.18579923A>C | CA412350171 | CDKL5 | c.358A>C (p.Ile120Leu) c.226A>C (p.Ile76Leu) n.610A>C | |
| X | g.18579923A>G | CA412350173 | CDKL5 | c.358A>G (p.Ile120Val) c.226A>G (p.Ile76Val) n.610A>G | |
| X | g.18579923A>T | CA412350174 | CDKL5 | c.358A>T (p.Ile120Phe) c.226A>T (p.Ile76Phe) n.610A>T | |
| X | g.18579924T>A | CA412350177 | CDKL5 | c.359T>A (p.Ile120Asn) c.227T>A (p.Ile76Asn) n.611T>A | |
| X | g.18579924T>C | CA412350179 | CDKL5 | c.359T>C (p.Ile120Thr) c.227T>C (p.Ile76Thr) n.611T>C | |
| X | g.18579924T>G | CA412350180 | CDKL5 | c.359T>G (p.Ile120Ser) c.227T>G (p.Ile76Ser) n.611T>G | |
| X | g.18579927_18579936del | CA2695231284 | CDKL5 | c.362_371del (p.Lys121ThrfsTer13) c.230_239del (p.Lys77ThrfsTer13) n.614_623del | |
| X | g.18579925C>A | CA515470105 | CDKL5 | c.360C>A (p.Ile120=) c.228C>A (p.Ile76=) n.612C>A | |
| X | g.18579925C= | CA2417966744 | CDKL5 | c.360C= (p.Ile120=) c.228C= (p.Ile76=) n.612C= | |
| X | g.18579925C>G | CA412350182 | CDKL5 | c.360C>G (p.Ile120Met) c.228C>G (p.Ile76Met) n.612C>G | dbSNP |
| X | g.18579925C>T | CA515470106 | CDKL5 | c.360C>T (p.Ile120=) c.228C>T (p.Ile76=) n.612C>T | |
| X | g.18579926A>C | CA412350185 | CDKL5 | c.361A>C (p.Lys121Gln) c.229A>C (p.Lys77Gln) n.613A>C | |
| X | g.18579926A>G | CA412350186 | CDKL5 | c.361A>G (p.Lys121Glu) c.229A>G (p.Lys77Glu) n.613A>G | |
| X | g.18579926A>T | CA412350188 | CDKL5 | c.361A>T (p.Lys121Ter) c.229A>T (p.Lys77Ter) n.613A>T | |
| X | g.18579927A>C | CA412350192 | CDKL5 | c.362A>C (p.Lys121Thr) c.230A>C (p.Lys77Thr) n.614A>C | |
| X | g.18579927A>G | CA412350194 | CDKL5 | c.362A>G (p.Lys121Arg) c.230A>G (p.Lys77Arg) n.614A>G | ClinVar dbSNP gnomAD v4 |
| X | g.18579927A>T | CA412350190 | CDKL5 | c.362A>T (p.Lys121Met) c.230A>T (p.Lys77Met) n.614A>T | |
| X | g.18579928G>A | CA515470107 | CDKL5 | c.363G>A (p.Lys121=) c.231G>A (p.Lys77=) n.615G>A | |
| X | g.18579928G>C | CA412350196 | CDKL5 | c.363G>C (p.Lys121Asn) c.231G>C (p.Lys77Asn) n.615G>C | |
| X | g.18579928G>T | CA412350198 | CDKL5 | c.363G>T (p.Lys121Asn) c.231G>T (p.Lys77Asn) n.615G>T | |
| X | g.18579929G>A | CA412350200 | CDKL5 | c.364G>A (p.Ala122Thr) c.232G>A (p.Ala78Thr) n.616G>A | ClinVar dbSNP |
| X | g.18579929G>C | CA412350203 | CDKL5 | c.364G>C (p.Ala122Pro) c.232G>C (p.Ala78Pro) n.616G>C | |
| X | g.18579929G= | CA2417966745 | CDKL5 | c.364G= (p.Ala122=) c.232G= (p.Ala78=) n.616G= | |
| X | g.18579929G>T | CA412350204 | CDKL5 | c.364G>T (p.Ala122Ser) c.232G>T (p.Ala78Ser) n.616G>T | |
| X | g.18579930C>A | CA412350208 | CDKL5 | c.365C>A (p.Ala122Asp) c.233C>A (p.Ala78Asp) n.617C>A | gnomAD v4 |
| X | g.18579930C= | CA2417966746 | CDKL5 | c.365C= (p.Ala122=) c.233C= (p.Ala78=) n.617C= | |
| X | g.18579930C>G | CA412350209 | CDKL5 | c.365C>G (p.Ala122Gly) c.233C>G (p.Ala78Gly) n.617C>G | dbSNP |
| X | g.18579930C>T | CA412350212 | CDKL5 | c.365C>T (p.Ala122Val) c.233C>T (p.Ala78Val) n.617C>T | |
| X | g.18579931T>A | CA515470108 | CDKL5 | c.366T>A (p.Ala122=) c.234T>A (p.Ala78=) n.618T>A | |
| X | g.18579931T>C | CA515470109 | CDKL5 | c.366T>C (p.Ala122=) c.234T>C (p.Ala78=) n.618T>C | |
| X | g.18579931T>G | CA515470110 | CDKL5 | c.366T>G (p.Ala122=) c.234T>G (p.Ala78=) n.618T>G | |
| X | g.18579931dup | CA2555378238 | CDKL5 | c.366dup (p.Ile123TyrfsTer6) c.234dup (p.Ile79TyrfsTer6) n.618dup | |
| X | g.18579932A= | CA2417966747 | CDKL5 | c.367A= (p.Ile123=) c.235A= (p.Ile79=) n.619A= | |
| X | g.18579932A>C | CA412350214 | CDKL5 | c.367A>C (p.Ile123Leu) c.235A>C (p.Ile79Leu) n.619A>C | |
| X | g.18579932A>G | CA412350216 | CDKL5 | c.367A>G (p.Ile123Val) c.235A>G (p.Ile79Val) n.619A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18579932A>T | CA412350217 | CDKL5 | c.367A>T (p.Ile123Phe) c.235A>T (p.Ile79Phe) n.619A>T | |
| X | g.18579932_18579933insC | CA2500319462 | CDKL5 | c.367_368insC (p.Ile123ThrfsTer6) c.235_236insC (p.Ile79ThrfsTer6) n.619_620insC | |
| X | g.18579933T>A | CA412350220 | CDKL5 | c.368T>A (p.Ile123Asn) c.236T>A (p.Ile79Asn) n.620T>A | |
| X | g.18579933T>C | CA412350222 | CDKL5 | c.368T>C (p.Ile123Thr) c.236T>C (p.Ile79Thr) n.620T>C | |
| X | g.18579933T>G | CA412350224 | CDKL5 | c.368T>G (p.Ile123Ser) c.236T>G (p.Ile79Ser) n.620T>G | |
| X | g.18579934T>A | CA515470111 | CDKL5 | c.369T>A (p.Ile123=) c.237T>A (p.Ile79=) n.621T>A | |
| X | g.18579934T>C | CA515470112 | CDKL5 | c.369T>C (p.Ile123=) c.237T>C (p.Ile79=) n.621T>C | |
| X | g.18579934T>G | CA412350226 | CDKL5 | c.369T>G (p.Ile123Met) c.237T>G (p.Ile79Met) n.621T>G | |
| X | g.18579935C>A | CA412350229 | CDKL5 | c.370C>A (p.His124Asn) c.238C>A (p.His80Asn) n.622C>A | |
| X | g.18579935C= | CA2417966748 | CDKL5 | c.370C= (p.His124=) c.238C= (p.His80=) n.622C= | |
| X | g.18579935C>G | CA412350232 | CDKL5 | c.370C>G (p.His124Asp) c.238C>G (p.His80Asp) n.622C>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579935C>T | CA412350235 | CDKL5 | c.370C>T (p.His124Tyr) c.238C>T (p.His80Tyr) n.622C>T | ClinVar |
| X | g.18579936A>C | CA412350239 | CDKL5 | c.371A>C (p.His124Pro) c.239A>C (p.His80Pro) n.623A>C | |
| X | g.18579936A>G | CA412350241 | CDKL5 | c.371A>G (p.His124Arg) c.239A>G (p.His80Arg) n.623A>G | |
| X | g.18579936A>T | CA412350243 | CDKL5 | c.371A>T (p.His124Leu) c.239A>T (p.His80Leu) n.623A>T | |
| X | g.18579937_18579950del | CA2580100385 | CDKL5 | c.372_385del (p.His124GlnfsTer2) c.240_253del (p.His80GlnfsTer2) n.624_637del | ClinVar |
| X | g.18579937C>A | CA412350246 | CDKL5 | c.372C>A (p.His124Gln) c.240C>A (p.His80Gln) n.624C>A | |
| X | g.18579937C= | CA2417966749 | CDKL5 | c.372C= (p.His124=) c.240C= (p.His80=) n.624C= | |
| X | g.18579937C>G | CA412350248 | CDKL5 | c.372C>G (p.His124Gln) c.240C>G (p.His80Gln) n.624C>G | |
| X | g.18579937C>T | CA515470113 | CDKL5 | c.372C>T (p.His124=) c.240C>T (p.His80=) n.624C>T | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579938T>A | CA412350252 | CDKL5 | c.373T>A (p.Trp125Arg) c.241T>A (p.Trp81Arg) n.625T>A | |
| X | g.18579938T>C | CA412350254 | CDKL5 | c.373T>C (p.Trp125Arg) c.241T>C (p.Trp81Arg) n.625T>C | |
| X | g.18579938T>G | CA412350257 | CDKL5 | c.373T>G (p.Trp125Gly) c.241T>G (p.Trp81Gly) n.625T>G | |
| X | g.18579938_18579946del | CA2559228289 | CDKL5 | c.373_381del (p.Trp125_His127del) c.241_249del (p.Trp81_His83del) n.625_633del | |
| X | g.18579939G>A | CA412350260 | CDKL5 | c.374G>A (p.Trp125Ter) c.242G>A (p.Trp81Ter) n.626G>A | |
| X | g.18579939G>C | CA412350264 | CDKL5 | c.374G>C (p.Trp125Ser) c.242G>C (p.Trp81Ser) n.626G>C | |
| X | g.18579939G>T | CA412350267 | CDKL5 | c.374G>T (p.Trp125Leu) c.242G>T (p.Trp81Leu) n.626G>T | |
| X | g.18579940del | CA2579562779 | CDKL5 | c.375del (p.Trp125CysfsTer12) c.243del (p.Trp81CysfsTer12) n.627del | |
| X | g.18579939_18579940insA | CA2819900992 | CDKL5 | c.374_375insA (p.Trp125Ter) c.242_243insA (p.Trp81Ter) n.626_627insA | |
| X | g.18579940G>A | CA412350274 | CDKL5 | c.375G>A (p.Trp125Ter) c.243G>A (p.Trp81Ter) n.627G>A | |
| X | g.18579940G>C | CA10360249 | CDKL5 | c.375G>C (p.Trp125Cys) c.243G>C (p.Trp81Cys) n.627G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579940G= | CA2417966750 | CDKL5 | c.375G= (p.Trp125=) c.243G= (p.Trp81=) n.627G= | |
| X | g.18579940G>T | CA412350270 | CDKL5 | c.375G>T (p.Trp125Cys) c.243G>T (p.Trp81Cys) n.627G>T | |
| X | g.18579941T>A | CA412350282 | CDKL5 | c.376T>A (p.Cys126Ser) c.244T>A (p.Cys82Ser) n.628T>A | |
| X | g.18579941T>C | CA412350279 | CDKL5 | c.376T>C (p.Cys126Arg) c.244T>C (p.Cys82Arg) n.628T>C | |
| X | g.18579941T>G | CA412350284 | CDKL5 | c.376T>G (p.Cys126Gly) c.244T>G (p.Cys82Gly) n.628T>G | ClinVar |
| X | g.18579942G>A | CA412350288 | CDKL5 | c.377G>A (p.Cys126Tyr) c.245G>A (p.Cys82Tyr) n.629G>A | |
| X | g.18579942G>C | CA412350294 | CDKL5 | c.377G>C (p.Cys126Ser) c.245G>C (p.Cys82Ser) n.629G>C | ClinVar dbSNP |
| X | g.18579942G= | CA2417966751 | CDKL5 | c.377G= (p.Cys126=) c.245G= (p.Cys82=) n.629G= | |
| X | g.18579942G>T | CA412350291 | CDKL5 | c.377G>T (p.Cys126Phe) c.245G>T (p.Cys82Phe) n.629G>T | |
| X | g.18579943C>A | CA412350297 | CDKL5 | c.378C>A (p.Cys126Ter) c.246C>A (p.Cys82Ter) n.630C>A | |
| X | g.18579943C= | CA2417966752 | CDKL5 | c.378C= (p.Cys126=) c.246C= (p.Cys82=) n.630C= | |
| X | g.18579943C>G | CA412350300 | CDKL5 | c.378C>G (p.Cys126Trp) c.246C>G (p.Cys82Trp) n.630C>G | ClinVar dbSNP |
| X | g.18579943C>T | CA515470114 | CDKL5 | c.378C>T (p.Cys126=) c.246C>T (p.Cys82=) n.630C>T | dbSNP |
| X | g.18579944C>A | CA412350302 | CDKL5 | c.379C>A (p.His127Asn) c.247C>A (p.His83Asn) n.631C>A | |
| X | g.18579944C= | CA2417966753 | CDKL5 | c.379C= (p.His127=) c.247C= (p.His83=) n.631C= | |
| X | g.18579944C>G | CA412350308 | CDKL5 | c.379C>G (p.His127Asp) c.247C>G (p.His83Asp) n.631C>G | ClinVar dbSNP |
| X | g.18579944C>T | CA412350305 | CDKL5 | c.379C>T (p.His127Tyr) c.247C>T (p.His83Tyr) n.631C>T | ClinVar |
| X | g.18579945A= | CA2417966754 | CDKL5 | c.380A= (p.His127=) c.248A= (p.His83=) n.632A= | |
| X | g.18579945A>C | CA412350310 | CDKL5 | c.380A>C (p.His127Pro) c.248A>C (p.His83Pro) n.632A>C | |
| X | g.18579945A>G | CA199281 | CDKL5 | c.380A>G (p.His127Arg) c.248A>G (p.His83Arg) n.632A>G | ClinVar dbSNP COSMIC |
| X | g.18579945A>T | CA412350314 | CDKL5 | c.380A>T (p.His127Leu) c.248A>T (p.His83Leu) n.632A>T | |
| X | g.18579946T>A | CA412350320 | CDKL5 | c.381T>A (p.His127Gln) c.249T>A (p.His83Gln) n.633T>A | |
| X | g.18579946T>C | CA515470115 | CDKL5 | c.381T>C (p.His127=) c.249T>C (p.His83=) n.633T>C | |
| X | g.18579946T>G | CA412350323 | CDKL5 | c.381T>G (p.His127Gln) c.249T>G (p.His83Gln) n.633T>G | |
| X | g.18579946_18579947delinsTA | CA2417966755 | CDKL5 | c.381_382delinsTA (p.His127=) c.249_250delinsTA (p.His83=) n.633_634delinsTA | |
| X | g.18579947A>C | CA412350326 | CDKL5 | c.382A>C (p.Lys128Gln) c.250A>C (p.Lys84Gln) n.634A>C | |
| X | g.18579947A>G | CA412350328 | CDKL5 | c.382A>G (p.Lys128Glu) c.250A>G (p.Lys84Glu) n.634A>G | |
| X | g.18579947A>T | CA412350337 | CDKL5 | c.382A>T (p.Lys128Ter) c.250A>T (p.Lys84Ter) n.634A>T | |
| X | g.18579948del | CA915950759 | CDKL5 | c.383del (p.Lys128ArgfsTer9) c.251del (p.Lys84ArgfsTer9) n.635del | ClinVar dbSNP |
| X | g.18579948A>C | CA412350340 | CDKL5 | c.383A>C (p.Lys128Thr) c.251A>C (p.Lys84Thr) n.635A>C | |
| X | g.18579948A>G | CA412350341 | CDKL5 | c.383A>G (p.Lys128Arg) c.251A>G (p.Lys84Arg) n.635A>G | |
| X | g.18579948A>T | CA412350344 | CDKL5 | c.383A>T (p.Lys128Met) c.251A>T (p.Lys84Met) n.635A>T | |
| X | g.18579949G>A | CA515470116 | CDKL5 | c.384G>A (p.Lys128=) c.252G>A (p.Lys84=) n.636G>A | |
| X | g.18579949G>C | CA412350345 | CDKL5 | c.384G>C (p.Lys128Asn) c.252G>C (p.Lys84Asn) n.636G>C | |
| X | g.18579949G>T | CA412350346 | CDKL5 | c.384G>T (p.Lys128Asn) c.252G>T (p.Lys84Asn) n.636G>T | |
| X | g.18579949_18579950delinsGA | CA2417966756 | CDKL5 | c.384_385delinsGA (p.Lys128=) c.252_253delinsGA (p.Lys84=) n.636_637delinsGA | |
| X | g.18579950A>C | CA412350348 | CDKL5 | c.385A>C (p.Asn129His) c.253A>C (p.Asn85His) n.637A>C | |
| X | g.18579950A>G | CA412350350 | CDKL5 | c.385A>G (p.Asn129Asp) c.253A>G (p.Asn85Asp) n.637A>G | COSMIC |
| X | g.18579950A>T | CA412350352 | CDKL5 | c.385A>T (p.Asn129Tyr) c.253A>T (p.Asn85Tyr) n.637A>T | |
| X | g.18579951del | CA915950760 | CDKL5 | c.386del (p.Asn129MetfsTer8) c.254del (p.Asn85MetfsTer8) n.638del | ClinVar dbSNP |
| X | g.18579951A>C | CA412350355 | CDKL5 | c.386A>C (p.Asn129Thr) c.254A>C (p.Asn85Thr) n.638A>C | |
| X | g.18579951A>G | CA412350359 | CDKL5 | c.386A>G (p.Asn129Ser) c.254A>G (p.Asn85Ser) n.638A>G | gnomAD v4 |
| X | g.18579951A>T | CA412350357 | CDKL5 | c.386A>T (p.Asn129Ile) c.254A>T (p.Asn85Ile) n.638A>T | |
| X | g.18579953_18579955del | CA2697552873 | CDKL5 | c.388_390del (p.Asp130del) c.256_258del (p.Asp86del) n.640_642del | ClinVar |
| X | g.18579952T>A | CA412350361 | CDKL5 | c.387T>A (p.Asn129Lys) c.255T>A (p.Asn85Lys) n.639T>A | |
| X | g.18579952T>C | CA515470117 | CDKL5 | c.387T>C (p.Asn129=) c.255T>C (p.Asn85=) n.639T>C | |
| X | g.18579952T>G | CA412350363 | CDKL5 | c.387T>G (p.Asn129Lys) c.255T>G (p.Asn85Lys) n.639T>G | |
| X | g.18579953G>A | CA412350365 | CDKL5 | c.388G>A (p.Asp130Asn) c.256G>A (p.Asp86Asn) n.640G>A | |
| X | g.18579953G>C | CA412350367 | CDKL5 | c.388G>C (p.Asp130His) c.256G>C (p.Asp86His) n.640G>C | |
| X | g.18579953G>T | CA412350369 | CDKL5 | c.388G>T (p.Asp130Tyr) c.256G>T (p.Asp86Tyr) n.640G>T | |
| X | g.18579953_18579959del | CA2520792542 | CDKL5 | c.388_394del (p.Asp130SerfsTer5) c.256_262del (p.Asp86SerfsTer5) n.640_646del | |
| X | g.18579954A>C | CA412350371 | CDKL5 | c.389A>C (p.Asp130Ala) c.257A>C (p.Asp86Ala) n.641A>C | |
| X | g.18579954A>G | CA412350374 | CDKL5 | c.389A>G (p.Asp130Gly) c.257A>G (p.Asp86Gly) n.641A>G | |
| X | g.18579954A>T | CA412350376 | CDKL5 | c.389A>T (p.Asp130Val) c.257A>T (p.Asp86Val) n.641A>T | |
| X | g.18579955T>A | CA412350378 | CDKL5 | c.390T>A (p.Asp130Glu) c.258T>A (p.Asp86Glu) n.642T>A | |
| X | g.18579955T>C | CA515470118 | CDKL5 | c.390T>C (p.Asp130=) c.258T>C (p.Asp86=) n.642T>C | |
| X | g.18579955T>G | CA412350379 | CDKL5 | c.390T>G (p.Asp130Glu) c.258T>G (p.Asp86Glu) n.642T>G | |
| X | g.18579956A>C | CA412350385 | CDKL5 | c.391A>C (p.Ile131Leu) c.259A>C (p.Ile87Leu) n.643A>C | |
| X | g.18579956A>G | CA412350383 | CDKL5 | c.391A>G (p.Ile131Val) c.259A>G (p.Ile87Val) n.643A>G | gnomAD v4 |
| X | g.18579956A>T | CA412350382 | CDKL5 | c.391A>T (p.Ile131Phe) c.259A>T (p.Ile87Phe) n.643A>T | |
| X | g.18579957T>A | CA412350391 | CDKL5 | c.392T>A (p.Ile131Asn) c.260T>A (p.Ile87Asn) n.644T>A | |
| X | g.18579957T>C | CA412350387 | CDKL5 | c.392T>C (p.Ile131Thr) c.260T>C (p.Ile87Thr) n.644T>C | ClinVar dbSNP |
| X | g.18579957T>G | CA412350389 | CDKL5 | c.392T>G (p.Ile131Ser) c.260T>G (p.Ile87Ser) n.644T>G | |
| X | g.18579958del | CA2695231286 | CDKL5 | c.393del (p.Ile131MetfsTer6) c.261del (p.Ile87MetfsTer6) n.645del | |
| X | g.18579958T>A | CA515470119 | CDKL5 | c.393T>A (p.Ile131=) c.261T>A (p.Ile87=) n.645T>A | |
| X | g.18579958T>C | CA515470120 | CDKL5 | c.393T>C (p.Ile131=) c.261T>C (p.Ile87=) n.645T>C | |
| X | g.18579958T>G | CA412350393 | CDKL5 | c.393T>G (p.Ile131Met) c.261T>G (p.Ile87Met) n.645T>G | ClinVar dbSNP |
| X | g.18579958T= | CA2417966757 | CDKL5 | c.393T= (p.Ile131=) c.261T= (p.Ile87=) n.645T= | |
| X | g.18579959G>A | CA412350396 | CDKL5 | c.394G>A (p.Val132Ile) c.262G>A (p.Val88Ile) n.646G>A | |
| X | g.18579959G>C | CA412350398 | CDKL5 | c.394G>C (p.Val132Leu) c.262G>C (p.Val88Leu) n.646G>C | |
| X | g.18579959G= | CA2417966758 | CDKL5 | c.394G= (p.Val132=) c.262G= (p.Val88=) n.646G= | |
| X | g.18579959G>T | CA412350400 | CDKL5 | c.394G>T (p.Val132Phe) c.262G>T (p.Val88Phe) n.646G>T | ClinVar |
| X | g.18579960T>A | CA412350402 | CDKL5 | c.395T>A (p.Val132Asp) c.263T>A (p.Val88Asp) n.647T>A | |
| X | g.18579960T>C | CA412350404 | CDKL5 | c.395T>C (p.Val132Ala) c.263T>C (p.Val88Ala) n.647T>C | |
| X | g.18579960T>G | CA412350405 | CDKL5 | c.395T>G (p.Val132Gly) c.263T>G (p.Val88Gly) n.647T>G | |
| X | g.18579961C>A | CA515470121 | CDKL5 | c.396C>A (p.Val132=) c.264C>A (p.Val88=) n.648C>A | gnomAD v4 |
| X | g.18579961C= | CA2417966759 | CDKL5 | c.396C= (p.Val132=) c.264C= (p.Val88=) n.648C= | |
| X | g.18579961C>G | CA515470123 | CDKL5 | c.396C>G (p.Val132=) c.264C>G (p.Val88=) n.648C>G | |
| X | g.18579961C>T | CA515470122 | CDKL5 | c.396C>T (p.Val132=) c.264C>T (p.Val88=) n.648C>T | ClinVar dbSNP gnomAD v4 |
| X | g.18579962C>A | CA412350408 | CDKL5 | c.397C>A (p.His133Asn) c.265C>A (p.His89Asn) n.649C>A | |
| X | g.18579962C>G | CA412350409 | CDKL5 | c.397C>G (p.His133Asp) c.265C>G (p.His89Asp) n.649C>G | |
| X | g.18579962C>T | CA412350411 | CDKL5 | c.397C>T (p.His133Tyr) c.265C>T (p.His89Tyr) n.649C>T | ClinVar |
| X | g.18579963A= | CA2417966760 | CDKL5 | c.398A= (p.His133=) c.266A= (p.His89=) n.650A= | |
| X | g.18579963A>C | CA412350417 | CDKL5 | c.398A>C (p.His133Pro) c.266A>C (p.His89Pro) n.650A>C | ClinVar dbSNP |
| X | g.18579963A>G | CA412350415 | CDKL5 | c.398A>G (p.His133Arg) c.266A>G (p.His89Arg) n.650A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18579963A>T | CA412350413 | CDKL5 | c.398A>T (p.His133Leu) c.266A>T (p.His89Leu) n.650A>T | |
| X | g.18579964del | CA2538799510 | CDKL5 | c.399del (p.Arg134GlufsTer3) c.267del (p.Arg90GlufsTer3) n.651del | |
| X | g.18579964T>A | CA412350419 | CDKL5 | c.399T>A (p.His133Gln) c.267T>A (p.His89Gln) n.651T>A | |
| X | g.18579964T>C | CA515470124 | CDKL5 | c.399T>C (p.His133=) c.267T>C (p.His89=) n.651T>C | |
| X | g.18579964T>G | CA412350423 | CDKL5 | c.399T>G (p.His133Gln) c.267T>G (p.His89Gln) n.651T>G | |
| X | g.18579965C>A | CA515470125 | CDKL5 | c.400C>A (p.Arg134=) c.268C>A (p.Arg90=) n.652C>A | gnomAD v4 |
| X | g.18579965C= | CA2417966761 | CDKL5 | c.400C= (p.Arg134=) c.268C= (p.Arg90=) n.652C= | |
| X | g.18579965C>G | CA412350426 | CDKL5 | c.400C>G (p.Arg134Gly) c.268C>G (p.Arg90Gly) n.652C>G | |
| X | g.18579965C>T | CA199287 | CDKL5 | c.400C>T (p.Arg134Ter) c.268C>T (p.Arg90Ter) n.652C>T | ClinVar dbSNP |
| X | g.18579966G>A | CA412350432 | CDKL5 | c.401G>A (p.Arg134Gln) c.269G>A (p.Arg90Gln) n.653G>A | gnomAD v4 |
| X | g.18579966G>C | CA412350434 | CDKL5 | c.401G>C (p.Arg134Pro) c.269G>C (p.Arg90Pro) n.653G>C | ClinVar |
| X | g.18579966G>T | CA412350437 | CDKL5 | c.401G>T (p.Arg134Leu) c.269G>T (p.Arg90Leu) n.653G>T | |
| X | g.18579967_18579968del | CA2543292098 | CDKL5 | c.402_403del (p.Asp135TyrfsTer12) c.270_271del (p.Asp91TyrfsTer12) n.654_655del | |
| X | g.18579967del | CA2564331127 | CDKL5 | c.402del (p.Asp135IlefsTer2) c.270del (p.Asp91IlefsTer2) n.654del | |
| X | g.18579967A>C | CA515470126 | CDKL5 | c.402A>C (p.Arg134=) c.270A>C (p.Arg90=) n.654A>C | |
| X | g.18579967A>G | CA515470127 | CDKL5 | c.402A>G (p.Arg134=) c.270A>G (p.Arg90=) n.654A>G | |
| X | g.18579967A>T | CA515470128 | CDKL5 | c.402A>T (p.Arg134=) c.270A>T (p.Arg90=) n.654A>T | |
| X | g.18579968G>A | CA412350441 | CDKL5 | c.403G>A (p.Asp135Asn) c.271G>A (p.Asp91Asn) n.655G>A | ClinVar dbSNP |
| X | g.18579968G>C | CA16621269 | CDKL5 | c.403G>C (p.Asp135His) c.271G>C (p.Asp91His) n.655G>C | ClinVar dbSNP |
| X | g.18579968G= | CA2417966762 | CDKL5 | c.403G= (p.Asp135=) c.271G= (p.Asp91=) n.655G= | |
| X | g.18579968G>T | CA412350446 | CDKL5 | c.403G>T (p.Asp135Tyr) c.271G>T (p.Asp91Tyr) n.655G>T | |
| X | g.18579969G>A | CA199398 | CDKL5 | c.403+1G>A (n.403+1G>A) c.271+1G>A (n.271+1G>A) n.655+1G>A | ClinVar dbSNP gnomAD v4 |
| X | g.18579969G>C | CA412350450 | CDKL5 | c.403+1G>C (n.403+1G>C) c.271+1G>C (n.271+1G>C) n.655+1G>C | |
| X | g.18579969G= | CA2417966763 | CDKL5 | c.403+1G= (n.403+1G=) c.271+1G= (n.271+1G=) n.655+1G= | |
| X | g.18579969G>T | CA412350453 | CDKL5 | c.403+1G>T (n.403+1G>T) c.271+1G>T (n.271+1G>T) n.655+1G>T | |
| X | g.18579970_18579971del | CA2579562780 | CDKL5 | c.403+2_403+3del (n.403+2_403+3del) c.271+2_271+3del (n.271+2_271+3del) n.655+2_655+3del | |
| X | g.18579971_18579974del | CA2579562781 | CDKL5 | c.403+3_403+6del (n.403+3_403+6del) c.271+3_271+6del (n.271+3_271+6del) n.655+3_655+6del | |
| X | g.18579969_18579980del | CA2530584880 | CDKL5 | c.403+1_403+12del (n.403+1_403+12del) c.271+1_271+12del (n.271+1_271+12del) n.655+1_655+12del | |
| X | g.18579970T>A | CA412350459 | CDKL5 | c.403+2T>A (n.403+2T>A) c.271+2T>A (n.271+2T>A) n.655+2T>A | |
| X | g.18579970T>C | CA412350462 | CDKL5 | c.403+2T>C (n.403+2T>C) c.271+2T>C (n.271+2T>C) n.655+2T>C | |
| X | g.18579970T>G | CA412350456 | CDKL5 | c.403+2T>G (n.403+2T>G) c.271+2T>G (n.271+2T>G) n.655+2T>G | |
| X | g.18579971G>A | CA2579562782 | CDKL5 | c.403+3G>A (n.403+3G>A) c.271+3G>A (n.271+3G>A) n.655+3G>A | |
| X | g.18579971_18579980del | CA2550580465 | CDKL5 | c.403+3_403+12del (n.403+3_403+12del) c.271+3_271+12del (n.271+3_271+12del) n.655+3_655+12del | |
| X | g.18579972A>T | CA2693221378 | CDKL5 | c.403+4A>T (n.403+4A>T) c.271+4A>T (n.271+4A>T) n.655+4A>T | gnomAD v4 |
| X | g.18579973G>A | CA640509400 | CDKL5 | c.403+5G>A (n.403+5G>A) c.271+5G>A (n.271+5G>A) n.655+5G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.18579973G= | CA2417966764 | CDKL5 | c.403+5G= (n.403+5G=) c.271+5G= (n.271+5G=) n.655+5G= | |
| X | g.18579974T>C | CA2693221379 | CDKL5 | c.403+6T>C (n.403+6T>C) c.271+6T>C (n.271+6T>C) n.655+6T>C | gnomAD v4 |
| X | g.18579975A= | CA2417966765 | CDKL5 | c.403+7A= (n.403+7A=) c.271+7A= (n.271+7A=) n.655+7A= | |
| X | g.18579975A>G | CA640509401 | CDKL5 | c.403+7A>G (n.403+7A>G) c.271+7A>G (n.271+7A>G) n.655+7A>G | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579976T>G | CA10360250 | CDKL5 | c.403+8T>G (n.403+8T>G) c.271+8T>G (n.271+8T>G) n.655+8T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579976T= | CA2417966766 | CDKL5 | c.403+8T= (n.403+8T=) c.271+8T= (n.271+8T=) n.655+8T= | |
| X | g.18579979G= | CA2417966767 | CDKL5 | c.403+11G= (n.403+11G=) c.271+11G= (n.271+11G=) n.655+11G= | |
| X | g.18579979G>T | CA10360251 | CDKL5 | c.403+11G>T (n.403+11G>T) c.271+11G>T (n.271+11G>T) n.655+11G>T | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579985del | CA2693221380 | CDKL5 | c.403+17del (n.403+17del) c.271+17del (n.271+17del) n.655+17del | gnomAD v4 |
| X | g.18579984T>C | CA2693221381 | CDKL5 | c.403+16T>C (n.403+16T>C) c.271+16T>C (n.271+16T>C) n.655+16T>C | gnomAD v4 |
| X | g.18579985_18579988del | CA2503697763 | CDKL5 | c.403+17_403+20del (n.403+17_403+20del) c.271+17_271+20del (n.271+17_271+20del) n.655+17_655+20del | |
| X | g.18579986A>T | CA2579562783 | CDKL5 | c.403+18A>T (n.403+18A>T) c.271+18A>T (n.271+18A>T) n.655+18A>T | gnomAD v4 |
| X | g.18579989del | CA2693221382 | CDKL5 | c.403+21del (n.403+21del) c.271+21del (n.271+21del) n.655+21del | gnomAD v4 |
| X | g.18579986_18579987insTC | CA2518127976 | CDKL5 | c.403+18_403+19insTC (n.403+18_403+19insTC) c.271+18_271+19insTC (n.271+18_271+19insTC) n.655+18_655+19insTC | |
| X | g.18579987A>G | CA2693221383 | CDKL5 | c.403+19A>G (n.403+19A>G) c.271+19A>G (n.271+19A>G) n.655+19A>G | gnomAD v4 |
| X | g.18579988A= | CA2417966768 | CDKL5 | c.403+20A= (n.403+20A=) c.271+20A= (n.271+20A=) n.655+20A= | |
| X | g.18579988A>G | CA1131399948 | CDKL5 | c.403+20A>G (n.403+20A>G) c.271+20A>G (n.271+20A>G) n.655+20A>G | dbSNP gnomAD v3 gnomAD v4 |
| X | g.18579989_18579999del | CA2551336871 | CDKL5 | c.403+21_403+31del (n.403+21_403+31del) c.271+21_271+31del (n.271+21_271+31del) n.655+21_655+31del | |
| X | g.18579990T>C | CA640509405 | CDKL5 | c.403+22T>C (n.403+22T>C) c.271+22T>C (n.271+22T>C) n.655+22T>C | dbSNP gnomAD v2 gnomAD v4 |
| X | g.18579990T>G | CA10360252 | CDKL5 | c.403+22T>G (n.403+22T>G) c.271+22T>G (n.271+22T>G) n.655+22T>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.18579990T= | CA2417966769 | CDKL5 | c.403+22T= (n.403+22T=) c.271+22T= (n.271+22T=) n.655+22T= |