{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA170489",
  "communityStandardTitle": [
    "NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=153549[alleleid]",
        "alleleId": 153549,
        "preferredName": "NM_001323289.2(CDKL5):c.352C>T (p.Gln118Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/143817",
        "RCV": [
          "RCV000133365",
          "RCV000598592"
        ],
        "variationId": 143817
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18598037C>T?assembly=hg19",
        "id": "chrX:g.18598037C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.18579917C>T?assembly=hg38",
        "id": "chrX:g.18579917C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/267608453",
        "rs": 267608453
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18579917,
          "referenceAllele": "C",
          "start": 18579916
        }
      ],
      "hgvs": [
        "NC_000023.11:g.18579917C>T",
        "CM000685.2:g.18579917C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18598037,
          "referenceAllele": "C",
          "start": 18598036
        }
      ],
      "hgvs": [
        "NC_000023.10:g.18598037C>T",
        "CM000685.1:g.18598037C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 18507958,
          "referenceAllele": "C",
          "start": 18507957
        }
      ],
      "hgvs": [
        "NC_000023.9:g.18507958C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 159313,
          "referenceAllele": "C",
          "start": 159312
        }
      ],
      "hgvs": [
        "NG_008475.1:g.159313C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001114"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000485244.1:p.Gln118_Leu960delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762406",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.352C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.352C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Gln118Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Gln118Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 718,
          "referenceAllele": "C",
          "start": 717
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000635828.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490170.1:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000490170.1:p.Gln118_Phe881delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnGlyLeuThrGlnSerLeuArgLeuGluCysSerGlyLysIleMetAlaHisCysSerLeuAspLeuLeuGlySerSerHisSerProIleSerAlaSerArgValThrGlyThrThrGlyThrArgHisHisThrTrpProValPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762666"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 721,
          "referenceAllele": "C",
          "start": 720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000637881.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489879.1:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000489879.1:p.Gln118_Asp471del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764180"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000674046.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501174.1:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000501174.1:p.Gln118_Leu1001delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379989.6:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369325.3:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000369325.3:p.Gln118_Lys1030delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000379996.7:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369332.3:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000369332.3:p.Gln118_Lys1030delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000463994.4:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485184.1:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000485184.1:p.Gln118Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS307911"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "ENST00000623535.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000485244.1:p.Gln118Ter",
        "hgvsWellDefined": "ENSP00000485244.1:p.Gln118_Leu960delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS406108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380004",
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_001032420.1:p.Gln118_Lys1030delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170490",
      "coordinates": [
        {
          "allele": "T",
          "end": 605,
          "referenceAllele": "C",
          "start": 604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_003150.1:p.Gln118_Lys1030delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028428"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545569.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543871.1:p.Gln118Ter",
        "hgvsWellDefined": "XP_011543871.1:p.Gln118_Lys1054delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 558,
          "referenceAllele": "C",
          "start": 557
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XM_011545570.1:c.220C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543872.1:p.Gln74Ter",
        "hgvsWellDefined": "XP_011543872.1:p.Gln74_Lys1027delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrThrAspSerThrAsnGlyGluAsnProSerIleLysLysSerLeuPheProLeuPheAsnSerLysAsnHisLeuLysHisSerSerSerLeuLysLysLeuProValValThrProProMetValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112470"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 604,
          "referenceAllele": "C",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "XR_950484.1:n.604C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143567"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827187096",
      "coordinates": [
        {
          "allele": "T",
          "end": 514,
          "referenceAllele": "C",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.1:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_001310218.1:p.Gln118_Leu960delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515313"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827187096",
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001323289.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310218.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_001310218.1:p.Gln118_Leu960delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProGlyGlnMetAspProGlyTrpHisValSerSerValThrArgSerAlaThrGluGlyProSerTyrSerGluGlnLeuGlyAlaLysSerGlyProAsnGlyHisProTyrAsnArgThrAsnArgSerArgMetProAsnLeuAsnAspLeuLysGluThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685939",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000623535.2:c.352C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001323289.2:c.352C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000485244.1:p.Gln118Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001310218.1:p.Gln118Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825380004",
      "coordinates": [
        {
          "allele": "T",
          "end": 601,
          "referenceAllele": "C",
          "start": 600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_001037343.2:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001032420.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_001032420.1:p.Gln118_Lys1030delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711572"
    },
    {
      "@id": "http://reg.genome.network/allele/PA170490",
      "coordinates": [
        {
          "allele": "T",
          "end": 602,
          "referenceAllele": "C",
          "start": 601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011411",
      "geneNCBI_id": 6792,
      "geneSymbol": "CDKL5",
      "hgvs": [
        "NM_003159.3:c.352C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003150.1:p.Gln118Ter",
        "hgvsWellDefined": "NP_003150.1:p.Gln118_Lys1030delinsLeuIleLysAlaIleHisTrpCysHisLysAsnAspIleValHisArgAspIleLysProGluAsnLeuLeuIleSerHisAsnAspValLeuLysLeuCysAspPheGlyPheAlaArgAsnLeuSerGluGlyAsnAsnAlaAsnTyrThrGluTyrValAlaThrArgTrpTyrArgSerProGluLeuLeuLeuGlyAlaProTyrGlyLysSerValAspMetTrpSerValGlyCysIleLeuGlyGluLeuSerAspGlyGlnProLeuPheProGlyGluSerGluIleAspGlnLeuPheThrIleGlnLysValLeuGlyProLeuProSerGluGlnMetLysLeuPheTyrSerAsnProArgPheHisGlyLeuArgPheProAlaValAsnHisProGlnSerLeuGluArgArgTyrLeuGlyIleLeuAsnSerValLeuLeuAspLeuMetLysAsnLeuLeuLysLeuAspProAlaAspArgTyrLeuThrGluGlnCysLeuAsnHisProThrPheGlnThrGlnArgLeuLeuAspArgSerProSerArgSerAlaLysArgLysProTyrHisValGluSerSerThrLeuSerAsnArgAsnGlnAlaGlyLysSerThrAlaLeuGlnSerHisHisArgSerAsnSerLysAspIleGlnAsnLeuSerValGlyLeuProArgAlaAspGluGlyLeuProAlaAsnGluSerPheLeuAsnGlyAsnLeuAlaGlyAlaSerLeuSerProLeuHisThrLysThrTyrGlnAlaSerSerGlnProGlySerThrSerLysAspLeuThrAsnAsnAsnIleProHisLeuLeuSerProLysGluAlaLysSerLysThrGluPheAspPheAsnIleAspProLysProSerGluGlyProGlyThrLysTyrLeuLysSerAsnSerArgSerGlnGlnAsnArgHisSerPheMetGluSerSerGlnSerLysAlaGlyThrLeuGlnProAsnGluLysGlnSerArgHisSerTyrIleAspThrIleProGlnSerSerArgSerProSerTyrArgThrLysAlaLysSerHisGlyAlaLeuSerAspSerLysSerValSerAsnLeuSerGluAlaArgAlaGlnIleAlaGluProSerThrSerArgTyrPheProSerSerCysLeuAspLeuAsnSerProThrSerProThrProThrArgHisSerAspThrArgThrLeuLeuSerProSerGlyArgAsnAsnArgAsnGluGlyThrLeuAspSerArgArgThrThrThrArgHisSerLysThrMetGluGluLeuLysLeuProGluHisMetAspSerSerHisSerHisSerLeuSerAlaProHisGluSerPheSerTyrGlyLeuGlyTyrThrSerProPheSerSerGlnGlnArgProHisArgHisSerMetTyrValThrArgAspLysValArgAlaLysGlyLeuAspGlySerLeuSerIleGlyGlnGlyMetAlaAlaArgAlaAsnSerLeuGlnLeuLeuSerProGlnProGlyGluGlnLeuProProGluMetThrValAlaArgSerSerValLysGluThrSerArgGluGlyThrSerSerPheHisThrArgGlnLysSerGluGlyGlyValTyrHisAspProHisSerAspAspGlyThrAlaProLysGluAsnArgHisLeuTyrAsnAspProValProArgArgValGlySerPheTyrArgValProSerProArgProAspAsnSerPheHisGluAsnAsnValSerThrArgValSerSerLeuProSerGluSerSerSerGlyThrAsnHisSerLysArgGlnProAlaPheAspProTrpLysSerProGluAsnIleSerHisSerGluGlnLeuLysGluLysGluLysGlnGlyPhePheArgSerMetLysLysLysLysLysLysSerGlnThrValProAsnSerAspSerProAspLeuLeuThrLeuGlnLysSerIleHisSerAlaSerThrProSerSerArgProLysGluTrpArgProGluLysIleSerAspLeuGlnThrGlnSerGlnProLeuLysSerLeuArgLysLeuLeuHisLeuSerSerAlaSerAsnHisProAlaSerSerAspProArgPheGlnProLeuThrAlaGlnGlnThrLysAsnSerPheSerGluIleArgIleHisProLeuSerGlnAlaSerGlyGlySerSerAsnIleArgGlnGluProAlaProLysGlyArgProAlaLeuGlnLeuProAspGlyGlyCysAspGlyArgArgGlnArgHisHisSerGlyProGlnAspArgArgPheMetLeuArgThrThrGluGlnGlnGlyGluTyrPheCysCysGlyAspProLysLysProHisThrProCysValProAsnArgAlaLeuHisArgProIleSerSerProAlaProTyrProValLeuGlnValArgGlyThrSerMetCysProThrLeuGlnValArgGlyThrAspAlaPheSerCysProThrGlnGlnSerGlyPheSerPhePheValArgHisValMetArgGluAlaLeuIleHisArgAlaGlnValAsnGlnAlaAlaLeuLeuThrTyrHisGluAsnAlaAlaLeuThrGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727358"
    }
  ],
  "type": "nucleotide"
}