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        "hgvsWellDefined": "XP_016873273.1:p.Gln2062_Lys2206delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6079,
          "referenceAllele": "C",
          "start": 6078
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.6064C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:p.Gln2022Ter",
        "hgvsWellDefined": "XP_016873274.1:p.Gln2022_Ser2179delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6316,
          "referenceAllele": "C",
          "start": 6315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.6301C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Gln2101Ter",
        "hgvsWellDefined": "XP_016873275.1:p.Gln2101_Phe2154delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6202,
          "referenceAllele": "C",
          "start": 6201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.6187C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:p.Gln2063Ter",
        "hgvsWellDefined": "XP_016873277.1:p.Gln2063_Lys2207delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6290,
          "referenceAllele": "C",
          "start": 6289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.6290C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6276,
          "referenceAllele": "C",
          "start": 6275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.6276C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645427732",
      "coordinates": [
        {
          "allele": "T",
          "end": 6501,
          "referenceAllele": "C",
          "start": 6500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.6211C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Gln2071Ter",
        "hgvsWellDefined": "NP_000251.3:p.Gln2071_Lys2215delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000409709.9:c.6211C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.6211C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Gln2071Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Gln2071Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825628013",
      "coordinates": [
        {
          "allele": "T",
          "end": 6387,
          "referenceAllele": "C",
          "start": 6386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.6097C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:p.Gln2033Ter",
        "hgvsWellDefined": "NP_001120652.1:p.Gln2033_Lys2175delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828321650",
      "coordinates": [
        {
          "allele": "T",
          "end": 6467,
          "referenceAllele": "C",
          "start": 6466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.6064C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:p.Gln2022Ter",
        "hgvsWellDefined": "NP_001356294.1:p.Gln2022_Lys2166delinsValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}