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        "hgvsWellDefined": "XP_016873273.1:p.Gln2057_Lys2206delinsAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
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    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6064,
          "referenceAllele": "C",
          "start": 6063
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      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
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      ],
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        "hgvsWellDefined": "XP_016873274.1:p.Gln2017_Ser2179delinsAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6301,
          "referenceAllele": "C",
          "start": 6300
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      ],
      "gene": "http://reg.genome.network/gene/GN007606",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
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        {
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          "end": 6187,
          "referenceAllele": "C",
          "start": 6186
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      ],
      "gene": "http://reg.genome.network/gene/GN007606",
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      "geneSymbol": "MYO7A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Gln2058Ter",
        "hgvsWellDefined": "XP_016873277.1:p.Gln2058_Lys2207delinsAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 6274
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      ],
      "gene": "http://reg.genome.network/gene/GN007606",
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      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.6275C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6216,
          "referenceAllele": "C",
          "start": 6215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
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      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.6216C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
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      ],
      "gene": "http://reg.genome.network/gene/GN007606",
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      "geneSymbol": "MYO7A",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427725",
      "coordinates": [
        {
          "allele": "T",
          "end": 6486,
          "referenceAllele": "C",
          "start": 6485
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      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_000251.3:p.Gln2066_Lys2215delinsAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000409709.9:c.6196C>T"
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          "RefSeq": {
            "hgvs": "NM_000260.4:c.6196C>T"
          }
        },
        "protein": {
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          "RefSeq": {
            "hgvs": "NP_000251.3:p.Gln2066Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825627999",
      "coordinates": [
        {
          "allele": "T",
          "end": 6372,
          "referenceAllele": "C",
          "start": 6371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001120652.1:p.Gln2028_Lys2175delinsAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828321641",
      "coordinates": [
        {
          "allele": "T",
          "end": 6452,
          "referenceAllele": "C",
          "start": 6451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.6049C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Gln2017Ter",
        "hgvsWellDefined": "NP_001356294.1:p.Gln2017_Lys2166delinsAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}