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        "hgvsWellDefined": "XP_011542341.1:p.Gln1660_Ala2555delinsLeuAlaGlyLysTrpAspLeuGlyAsnLeuLeuLeuPheAsnGlyAlaLysValGlySerGlnGluAlaPheTyrLeuTyrAlaCysGlyProAsnHisThrSerValMetProCysLysTyrGlyLysProValAsnAspTyrSerLysTyrIleAsnLysGluIleLeuArgCysGluGlnIleArgGluLeuPheMetThrLysLysAspValAspIleGlyLeuLeuIleGluSerLeuSerValValTyrThrThrTyrCysProAlaGlnTyrThrIleTyrGluProValIleArgLeuLysGlyGlnMetLysThrGlnLeuSerGlnArgProPheSerSerLysGluValGlnSerIleLeuLeuGluProHisHisLeuLysAsnLeuGlnProThrGluTyrLysThrIleGlnGlyIleLeuHisGluIleGlyGlyThrGlyIlePheValPheLeuPheAlaArgValValGluLeuSerSerCysGluGluThrGlnAlaLeuAlaLeuArgValIleLeuSerLeuIleLysTyrAsnGlnGlnArgValHisGluLeuGluAsnCysAsnGlyLeuSerMetIleHisGlnValLeuIleLysGlnLysCysIleValGlyPheTyrIleLeuLysThrLeuLeuGluGlyCysCysGlyGluAspIleIleTyrMetAsnGluAsnGlyGluPheLysLeuAspValAspSerAsnAlaIleIleGlnAspValLysLeuLeuGluGluLeuLeuLeuAspTrpLysIleTrpSerLysAlaGluGlnGlyValTrpGluThrLeuLeuAlaAlaLeuGluValLeuIleArgAlaAspHisHisGlnGlnMetPheAsnIleLysGlnLeuLeuLysAlaGlnValValHisHisPheLeuLeuThrCysGlnValLeuGlnGluTyrLysGluGlyGlnLeuThrProMetProArgGluValCysArgSerPheValLysIleIleAlaGluValLeuGlySerProProAspLeuGluLeuLeuThrIleIlePheAsnPheLeuLeuAlaValHisProProThrAsnThrTyrValCysHisAsnProThrAsnPheTyrPheSerLeuHisIleAspGlyLysIlePheGlnGluLysValArgSerIleMetTyrLeuArgHisSerSerSerGlyGlyArgSerLeuMetSerProGlyPheMetValIleSerProSerGlyPheThrAlaSerProTyrGluGlyGluAsnSerSerAsnIleIleProGlnGlnMetAlaAlaHisMetLeuArgSerArgSerLeuProAlaPheProThrSerSerLeuLeuThrGlnSerGlnLysLeuThrGlySerLeuGlyCysSerIleAspArgLeuGlnAsnIleAlaAspThrTyrValAlaThrGlnSerLysLysGlnAsnSerLeuGlySerSerAspThrLeuLysLysGlyLysGluAspAlaPheIleSerSerCysGluSerAlaLysThrValCysGluMetGluAlaValLeuSerAlaGlnValSerValSerAspValProLysGlyValLeuGlyPheProValValLysAlaAspHisLysGlnLeuGlyAlaGluProArgSerGluAspAspSerProGlyAspGluSerCysProArgArgProAspTyrLeuLysGlyLeuAlaSerPheGlnArgSerHisSerThrIleAlaSerLeuGlyLeuAlaPheProSerGlnAsnGlySerAlaAlaValGlyArgTrpProSerLeuValAspArgAsnThrAspAspTrpGluAsnPheAlaTyrSerLeuGlyTyrGluProAsnTyrAsnArgThrAlaSerAlaHisSerValThrGluAspCysLeuValProIleCysCysGlyLeuTyrGluLeuLeuSerGlyValLeuLeuIleLeuProAspValLeuLeuGluAspValMetAspLysLeuIleGlnAlaAspThrLeuLeuValLeuValAsnHisProSerProAlaIleGlnGlnGlyValIleLysLeuLeuAspAlaTyrPheAlaArgAlaSerLysGluGlnLysAspLysPheLeuLysAsnArgGlyPheSerLeuLeuAlaAsnGlnLeuTyrLeuHisArgGlyThrGlnGluLeuLeuGluCysPheIleGluMetPhePheGlyArgHisIleGlyLeuAspGluGluPheAspLeuGluAspValArgAsnMetGlyLeuPheGlnLysTrpSerValIleProIleLeuGlyLeuIleGluThrSerLeuTyrAspAsnIleLeuLeuHisAsnAlaLeuLeuLeuLeuLeuGlnIleLeuAsnSerCysSerLysValAlaAspMetLeuLeuAspAsnGlyLeuLeuTyrValLeuCysAsnThrValAlaAlaLeuAsnGlyLeuGluLysAsnIleProMetSerGluTyrLysLeuLeuAlaCysAspIleGlnGlnLeuPheIleAlaValThrIleHisAlaCysSerSerSerGlySerGlnTyrPheArgValIleGluAspLeuIleValMetLeuGlyTyrLeuGlnAsnSerLysAsnLysArgThrGlnIleSerSerValPheArgTyrGlyCysCysThrThrAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000150.1:c.4978C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855639.1:p.Gln1660Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556567"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XM_017000151.1:c.4978C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855640.1:p.Gln1660Ter",
        "hgvsWellDefined": "XP_016855640.1:p.Gln1660_Thr1963delinsLeuAlaGlyLysTrpAspLeuGlyAsnLeuLeuLeuPheAsnGlyAlaLysValGlySerGlnGluAlaPheTyrLeuTyrAlaCysGlyProAsnHisThrSerValMetProCysLysTyrGlyLysProValAsnAspTyrSerLysTyrIleAsnLysGluIleLeuArgCysGluGlnIleArgGluLeuPheMetThrLysLysAspValAspIleGlyLeuLeuIleGluSerLeuSerValValTyrThrThrTyrCysProAlaGlnTyrThrIleTyrGluProValIleArgLeuLysGlyGlnMetLysThrGlnLeuSerGlnArgProPheSerSerLysGluValGlnSerIleLeuLeuGluProHisHisLeuLysAsnLeuGlnProThrGluTyrLysThrIleGlnGlyIleLeuHisGluIleGlyGlyThrGlyIlePheValPheLeuPheAlaArgValValGluLeuSerSerCysGluGluThrGlnAlaLeuAlaLeuArgValIleLeuSerLeuIleLysTyrAsnGlnGlnArgValHisGluLeuGluAsnCysAsnGlyLeuSerMetIleHisGlnValLeuIleLysGlnLysCysIleValGlyPheTyrIleLeuLysThrLeuLeuGluGlyCysCysGlyGluAspIleIleTyrMetAsnGluAsnGlyGluPheLysLeuAspValAspSerAsnAlaIleIleGlnAspValLysLeuLeuGluGluLeuLeuLeuAspTrpLysIleTrpSerLysAlaGluGluTyrLysGluGlyGlnLeuThrProMetProArgGluGlnPheThrLeuLeuLeuIleLeuThrPheValThrIleProArgThrSerThrPheLeuCysThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736946.2:n.5160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736947.1:n.5160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_001736948.1:n.5160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5160,
          "referenceAllele": "C",
          "start": 5159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "XR_002959252.1:n.5160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS605185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5139,
          "referenceAllele": "C",
          "start": 5138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001968",
      "geneNCBI_id": 1130,
      "geneSymbol": "LYST",
      "hgvs": [
        "NM_000081.4:c.4978C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000072.2:p.Gln1660Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674690",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389793.7:c.4978C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000081.4:c.4978C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000374443.2:p.Gln1660Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000072.2:p.Gln1660Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}