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      "geneNCBI_id": 1756,
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      "hgvs": [
        "XM_006724473.2:c.7695T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724536.1:p.Tyr2565Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075532"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
      ],
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        "hgvsWellDefined": "XP_006724538.1:p.Tyr2611_Met3575delinsThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS075534"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7907,
          "referenceAllele": "T",
          "start": 7906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545467.1:c.7710T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543769.1:p.Tyr2570Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112367"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
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        }
      ],
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      "geneSymbol": "DMD",
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        "XM_011545468.1:c.7833T>A"
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      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Tyr2611Ter",
        "hgvsWellDefined": "XP_011543770.1:p.Tyr2611_Leu3295delinsThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112368"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8004,
          "referenceAllele": "T",
          "start": 8003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724469.3:c.7809T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724532.1:p.Tyr2603Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540982"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724470.3:c.7833T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724533.1:p.Tyr2611Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_006724474.3:c.7833T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006724537.1:p.Tyr2611Ter",
        "hgvsWellDefined": "XP_006724537.1:p.Tyr2611_Glu3593delinsThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540984"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_011545468.2:c.7833T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543770.1:p.Tyr2611Ter",
        "hgvsWellDefined": "XP_011543770.1:p.Tyr2611_Leu3295delinsThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheSerGlnSerLeuGluThrThrAlaLeuPheSerValProValIleLeuProPheProGluLeuAspPheLysGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8030,
          "referenceAllele": "T",
          "start": 8029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "XM_017029328.1:c.7833T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884817.1:p.Tyr2611Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2606,
          "referenceAllele": "T",
          "start": 2605
        }
      ],
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      "hgvs": [
        "XM_017029331.1:c.2007T>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884820.1:p.Tyr669Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS578895"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7932,
          "referenceAllele": "T",
          "start": 7931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_000109.4:c.7809T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000100.3:p.Tyr2603Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS674704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8070,
          "referenceAllele": "T",
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        }
      ],
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      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004006.3:c.7833T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_003997.2:p.Tyr2611Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS696014",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357033.9:c.7833T>A"
          },
          "RefSeq": {
            "hgvs": "NM_004006.3:c.7833T>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000354923.3:p.Tyr2611Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003997.2:p.Tyr2611Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3829,
          "referenceAllele": "T",
          "start": 3828
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      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS696015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3972,
          "referenceAllele": "T",
          "start": 3971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004012.4:c.3801T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004003.2:p.Tyr1267Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696016"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004021.3:c.453T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004012.2:p.Tyr151Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829511724",
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004023.3:c.453T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004014.2:p.Tyr151Ter",
        "hgvsWellDefined": "NP_004014.2:p.Tyr151_Glu1133delinsThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyHisAsnValGlySerLeuPheHisMetAlaAspAspLeuGlyArgAlaMetGluSerLeuValSerValMetThrAspGluGluGlyAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696023"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004013.3:c.453T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004004.2:p.Tyr151Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727462"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829508293",
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004020.4:c.453T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004011.3:p.Tyr151Ter",
        "hgvsWellDefined": "NP_004011.3:p.Tyr151_Met1115delinsThrValAspAlaIleGlnLysLysIleThrGluThrLysGlnLeuAlaLysAspLeuArgGlnTrpGlnThrAsnValAspValAlaAsnAspLeuAlaLeuLysLeuLeuArgAspTyrSerAlaAspAspThrArgLysValHisMetIleThrGluAsnIleAsnAlaSerTrpArgSerIleHisLysArgValSerGluArgGluAlaAlaLeuGluGluThrHisArgLeuLeuGlnGlnPheProLeuAspLeuGluLysPheLeuAlaTrpLeuThrGluAlaGluThrThrAlaAsnValLeuGlnAspAlaThrArgLysGluArgLeuLeuGluAspSerLysGlyValLysGluLeuMetLysGlnTrpGlnAspLeuGlnGlyGluIleGluAlaHisThrAspValTyrHisAsnLeuAspGluAsnSerGlnLysIleLeuArgSerLeuGluGlySerAspAspAlaValLeuLeuGlnArgArgLeuAspAsnMetAsnPheLysTrpSerGluLeuArgLysLysSerLeuAsnIleArgSerHisLeuGluAlaSerSerAspGlnTrpLysArgLeuHisLeuSerLeuGlnGluLeuLeuValTrpLeuGlnLeuLysAspAspGluLeuSerArgGlnAlaProIleGlyGlyAspPheProAlaValGlnLysGlnAsnAspValHisArgAlaPheLysArgGluLeuLysThrLysGluProValIleMetSerThrLeuGluThrValArgIlePheLeuThrGluGlnProLeuGluGlyLeuGluLysLeuTyrGlnGluProArgGluLeuProProGluGluArgAlaGlnAsnValThrArgLeuLeuArgLysGlnAlaGluGluValAsnThrGluTrpGluLysLeuAsnLeuHisSerAlaAspTrpGlnArgLysIleAspGluThrLeuGluArgLeuArgGluLeuGlnGluAlaThrAspGluLeuAspLeuLysLeuArgGlnAlaGluValIleLysGlySerTrpGlnProValGlyAspLeuLeuIleAspSerLeuGlnAspHisLeuGluLysValLysAlaLeuArgGlyGluIleAlaProLeuLysGluAsnValSerHisValAsnAspLeuAlaArgGlnLeuThrThrLeuGlyIleGlnLeuSerProTyrAsnLeuSerThrLeuGluAspLeuAsnThrArgTrpLysLeuLeuGlnValAlaValGluAspArgValArgGlnLeuHisGluAlaHisArgAspPheGlyProAlaSerGlnHisPheLeuSerThrSerValGlnGlyProTrpGluArgAlaIleSerProAsnLysValProTyrTyrIleAsnHisGluThrGlnThrThrCysTrpAspHisProLysMetThrGluLeuTyrGlnSerLeuAlaAspLeuAsnAsnValArgPheSerAlaTyrArgThrAlaMetLysLeuArgArgLeuGlnLysAlaLeuCysLeuAspLeuLeuSerLeuSerAlaAlaCysAspAlaLeuAspGlnHisAsnLeuLysGlnAsnAspGlnProMetAspIleLeuGlnIleIleAsnCysLeuThrThrIleTyrAspArgLeuGluGlnGluHisAsnAsnLeuValAsnValProLeuCysValAspMetCysLeuAsnTrpLeuLeuAsnValTyrAspThrGlyArgThrGlyArgIleArgValLeuSerPheLysThrGlyIleIleSerLeuCysLysAlaHisLeuGluAspLysTyrArgTyrLeuPheLysGlnValAlaSerSerThrGlyPheCysAspGlnArgArgLeuGlyLeuLeuLeuHisAspSerIleGlnIleProArgGlnLeuGlyGluValAlaSerPheGlyGlySerAsnIleGluProSerValArgSerCysPheGlnPheAlaAsnAsnLysProGluIleGluAlaAlaLeuPheLeuAspTrpMetArgLeuGluProGlnSerMetValTrpLeuProValLeuHisArgValAlaAlaAlaGluThrAlaLysHisGlnAlaLysCysAsnIleCysLysGluCysProIleIleGlyPheArgTyrArgSerLeuLysHisPheAsnTyrAspIleCysGlnSerCysPhePheSerGlyArgValAlaLysGlyHisLysMetHisTyrProMetValGluTyrCysThrProThrThrSerGlyGluAspValArgAspPheAlaLysValLeuLysAsnLysPheArgThrLysArgTyrPheAlaLysHisProArgMetGlyTyrLeuProValGlnThrValLeuGluGlyAspAsnMetGluThrAsnLeuGlnAlaGluTyrAspArgLeuLysGlnGlnHisGluHisLysGlyLeuSerProLeuProSerProProGluMetMetProThrSerProGlnSerProArgAspAlaGluLeuIleAlaGluAlaLysLeuLeuArgGlnHisLysGlyArgLeuGluAlaArgMetGlnIleLeuGluAspHisAsnLysGlnLeuGluSerGlnLeuHisArgLeuArgGlnLeuLeuGluGlnProGlnAlaGluAlaLysValAsnGlyThrThrValSerSerProSerThrSerLeuGlnArgSerAspSerSerGlnProMetLeuLeuArgValValGlySerGlnThrSerAspSerMetGlyGluGluAspLeuLeuSerProProGlnAspThrSerThrGlyLeuGluGluValMetGluGlnLeuAsnAsnSerPheProSerSerArgGlyArgAsnThrProGlyLysProMetArgGluAspThrMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727464"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1494,
          "referenceAllele": "T",
          "start": 1493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002928",
      "geneNCBI_id": 1756,
      "geneSymbol": "DMD",
      "hgvs": [
        "NM_004022.3:c.453T>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_004013.2:p.Tyr151Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727465"
    }
  ],
  "type": "nucleotide"
}