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        "hgvsWellDefined": "ENSP00000508110.1:p.Tyr37_Leu473delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828652"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000683735.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508336.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000508336.1:p.Tyr37_Ser121delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGluThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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      "hgvs": [
        "ENST00000683853.1:c.111C>G"
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        "hgvsWellDefined": "ENSP00000506834.1:p.Tyr37_Gln373delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828820"
    },
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      "coordinates": [
        {
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828851"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000508382.1:p.Tyr37_Trp474delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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        "hgvsWellDefined": "ENSP00000507320.1:p.Tyr37_Pro360delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTyrProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829083"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684203.1:n.128C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684231.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507748.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000507748.1:p.Tyr37_Gln143delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyCysHisGlyValGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829188"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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      "hgvs": [
        "ENST00000684263.1:c.111C>G"
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      "proteinEffect": {
        "hgvs": "ENSP00000508369.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000508369.1:p.Tyr37_Thr358delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829220"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "referenceAllele": "C",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684305.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506819.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000506819.1:p.Tyr37_Ser121delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGluThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829261"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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      "hgvs": [
        "ENST00000684415.1:c.111C>G"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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      "hgvs": [
        "ENST00000684520.1:c.111C>G"
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      "proteinEffect": {
        "hgvs": "ENSP00000506826.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000506826.1:p.Tyr37_Trp474delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684602.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507996.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000507996.1:p.Tyr37_Tyr88delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrAlaAsnMetTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829554"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "referenceAllele": "C",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000684667.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507003.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000507003.1:p.Tyr37_Ser121delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGluThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829618"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
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      "hgvs": [
        "ENST00000268097.10:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.6:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000268097.6:p.Tyr37_Thr529delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743027",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.111C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.111C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Tyr37Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Tyr37Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 615,
          "referenceAllele": "C",
          "start": 614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000268097.9:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268097.5:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000268097.5:p.Tyr37_Thr529delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 120,
          "referenceAllele": "C",
          "start": 119
        }
      ],
      "hgvs": [
        "ENST00000379915.4:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478716.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000478716.1:p.Tyr37_Val227delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgLeuGlnGlyArgArgMetCysLeuArgLeuArgGlyLysLysValValLysAspThrGluAspArgAspValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272694"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 111,
          "referenceAllele": "C",
          "start": 110
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563762.5:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456346.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000456346.1:p.Tyr37_Tyr88delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrAlaAsnMetTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS377635"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 108,
          "referenceAllele": "C",
          "start": 107
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000563908.1:n.108C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS377734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
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      "hgvs": [
        "ENST00000566304.5:c.111C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000455114.1:p.Tyr37_Thr540delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000566672.5:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457037.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000457037.1:p.Tyr37_Gln143delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyCysHisGlyValGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379607"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 132,
          "referenceAllele": "C",
          "start": 131
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567159.5:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000456489.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000456489.1:p.Tyr37_Arg509delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379928"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 128,
          "referenceAllele": "C",
          "start": 127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
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      "hgvs": [
        "ENST00000567213.2:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478217.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000478217.1:p.Tyr37_Ser119delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLeuSerLeuSerPheArgLeuGluCysSerGlyValIleThrAlaTyrSerAsnLeuGluLeuGlnAspSerSerSerLeuProAlaSerLeuMetSerSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS379965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 142,
          "referenceAllele": "C",
          "start": 141
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000567411.5:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455545.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000455545.1:p.Tyr37_Asp143delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgValLeuTyrGlnGlnAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS380095"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 92,
          "referenceAllele": "C",
          "start": 91
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000568260.1:c.92C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 114,
          "referenceAllele": "C",
          "start": 113
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
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      "hgvs": [
        "ENST00000569410.5:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457125.1:p.Tyr37Ter",
        "hgvsWellDefined": "ENSP00000457125.1:p.Tyr37_Gln373delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrPheSerGlnThrGlnSerTyrArgCysGlyGluArgIlePheGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS381456"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 146,
          "endIntronDirection": "-",
          "endIntronOffset": 30,
          "referenceAllele": "C",
          "start": 146,
          "startIntronDirection": "-",
          "startIntronOffset": 31
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "ENST00000569509.5:n.147-31C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS381521"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206348",
      "coordinates": [
        {
          "allele": "G",
          "end": 318,
          "referenceAllele": "C",
          "start": 317
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.4:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr37Ter",
        "hgvsWellDefined": "NP_000511.2:p.Tyr37_Thr529delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006577"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206348",
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.5:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr37Ter",
        "hgvsWellDefined": "NP_000511.2:p.Tyr37_Thr529delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741861326",
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.1:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Tyr37Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Tyr37_Thr540delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513060"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.1:n.612C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS527809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825206348",
      "coordinates": [
        {
          "allele": "G",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_000520.6:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000511.2:p.Tyr37Ter",
        "hgvsWellDefined": "NP_000511.2:p.Tyr37_Thr529delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674877",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268097.10:c.111C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000520.6:c.111C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268097.6:p.Tyr37Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000511.2:p.Tyr37Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741861326",
      "coordinates": [
        {
          "allele": "G",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NM_001318825.2:c.111C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305754.1:p.Tyr37Ter",
        "hgvsWellDefined": "NP_001305754.1:p.Tyr37_Thr540delinsValLeuTyrProAsnAsnPheGlnPheGlnTyrAspValSerSerAlaAlaGlnProGlyCysSerValLeuAspGluAlaPheGlnArgTyrArgAspLeuLeuPheGlySerGlySerTrpProArgProTyrLeuThrGlyTrpProHisGlnAlaTyrProValPheLeuGlyLysArgHisThrLeuGluLysAsnValLeuValValSerValValThrProGlyCysAsnGlnLeuProThrLeuGluSerValGluAsnTyrThrLeuThrIleAsnAspAspGlnCysLeuLeuLeuSerGluThrValTrpGlyAlaLeuArgGlyLeuGluThrPheSerGlnLeuValTrpLysSerAlaGluGlyThrPhePheIleAsnLysThrGluIleGluAspPheProArgPheProHisArgGlyLeuLeuLeuAspThrSerArgHisTyrLeuProLeuSerSerIleLeuAspThrLeuAspValMetAlaTyrAsnLysLeuAsnValPheHisTrpHisLeuValAspAspProSerPheProTyrGluSerPheThrPheProGluLeuMetArgLysGlySerTyrAsnProValThrHisIleTyrThrAlaGlnAspValLysGluValIleGluTyrAlaArgLeuArgGlyIleArgValLeuAlaGluPheAspThrProGlyHisThrLeuSerTrpGlyProGlyIleProGlyLeuLeuThrProCysTyrSerGlySerGluProSerGlyThrPheGlyProValAsnProSerLeuAsnAsnThrTyrGluPheMetSerThrPhePheLeuGluValSerSerValPheProAspPheTyrLeuHisLeuGlyGlyAspGluValAspPheThrCysTrpLysSerAsnProGluIleGlnAspPheMetArgLysLysGlyPheGlyGluAspPheLysGlnLeuGluSerPheTyrIleGlnThrLeuLeuAspIleValSerSerTyrGlyLysGlyTyrValValTrpGlnGluValPheAspAsnLysValLysIleGlnProAspThrIleIleGlnValTrpArgGluAspIleProValAsnTyrMetLysGluLeuGluLeuValThrLysAlaGlyPheArgAlaLeuLeuSerAlaProTrpTyrLeuAsnArgIleSerTyrGlyProAspTrpLysAspPheTyrIleValGluProLeuAlaPheGluGlyThrProGluGlnLysAlaLeuValIleGlyGlyGluAlaCysMetTrpGlyGluTyrValAspAsnThrAsnLeuValProArgLeuTrpProArgAlaGlyAlaValAlaGluArgLeuTrpSerAsnLysLeuThrSerAspLeuThrPheAlaTyrGluArgLeuSerHisPheArgCysGluLeuLeuArgArgGlyValGlnAlaGlnProLeuAsnValGlyPheCysGluGlnGluPheGluGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS684622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.2:n.153C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS703516"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 153,
          "referenceAllele": "C",
          "start": 152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004878",
      "geneNCBI_id": 3073,
      "geneSymbol": "HEXA",
      "hgvs": [
        "NR_134869.3:n.153C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS730887"
    }
  ],
  "type": "nucleotide"
}