{
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  "@id": "http://reg.genome.network/allele/CA252973",
  "communityStandardTitle": [
    "NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)"
  ],
  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19053[alleleid]",
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        "preferredName": "NM_017433.5(MYO3A):c.3129T>G (p.Tyr1043Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4014",
        "RCV": [
          "RCV000004229"
        ],
        "variationId": 4014
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.26457658T>G?assembly=hg19",
        "id": "chr10:g.26457658T>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.26168729T>G?assembly=hg38",
        "id": "chr10:g.26168729T>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193919333",
        "rs": 193919333
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "10",
      "coordinates": [
        {
          "allele": "G",
          "end": 26168729,
          "referenceAllele": "T",
          "start": 26168728
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      ],
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        "CM000672.2:g.26168729T>G"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000058"
    },
    {
      "chromosome": "10",
      "coordinates": [
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "10",
      "coordinates": [
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          "start": 26497663
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      ],
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      "referenceGenome": "NCBI36",
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    },
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      "hgvs": [
        "NG_011635.1:g.239657T>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001870"
    }
  ],
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      ],
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      "geneSymbol": "MYO3A",
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    },
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000495965.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766991",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NP_059129.3:p.Tyr1043Ter"
          }
        }
      }
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      "geneSymbol": "MYO3A",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493932.1:n.*1124T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769437"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3295,
          "referenceAllele": "T",
          "start": 3294
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      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000265944.4:p.Tyr1043Ter",
        "hgvsWellDefined": "ENSP00000265944.4:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251847"
    },
    {
      "coordinates": [
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          "start": 354
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS318450"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1836,
          "endIntronDirection": "-",
          "endIntronOffset": 43113,
          "referenceAllele": "T",
          "start": 1836,
          "startIntronDirection": "-",
          "startIntronOffset": 43114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
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      "geneSymbol": "MYO3A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000445909.1:n.1777-43114T>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364108"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252974",
      "coordinates": [
        {
          "allele": "G",
          "end": 3489,
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          "start": 3488
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      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "NM_017433.4:c.3129T>G"
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      "proteinEffect": {
        "hgvs": "NP_059129.3:p.Tyr1043Ter",
        "hgvsWellDefined": "NP_059129.3:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034931"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3382,
          "referenceAllele": "T",
          "start": 3381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011517800.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517800.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086671"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3310,
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          "start": 3309
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      ],
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      "geneNCBI_id": 53904,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011517801.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086672"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3519,
          "referenceAllele": "T",
          "start": 3518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519500.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517802.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517802.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086673"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3375,
          "referenceAllele": "T",
          "start": 3374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519501.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517803.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517803.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519502.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517804.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517804.1:p.Tyr1043_Val1612delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgIleHisLeuAsnTyrAspIleCysProLeuProProLysGluAspValLeuPheHisLeuGlyIleGlnHisCysAsnMetLeuGluLeuArgAspValLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519503.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517805.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517805.1:p.Tyr1043_Ser1568delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519504.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517806.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517806.1:p.Tyr1043_His1565delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGluValAsnProArgArgLysThrLysThrLysGluArgGlnValLeuGlyGlyGlyGluProArgGluGlyGlyGlyGluArgAlaSerSerGlnProLeuArgLeuGlnGluAlaProAlaGlnAsnLeuProAlaProAlaProArgProAlaValLeuThrValGlnArgGlySerHisArgArgArgLysAlaLeuGluProAlaGlyGlnGlnGlyProSerArgHisSerGlyAlaGlyThrSerArgHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519505.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517807.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517807.1:p.Tyr1043_Ser1532delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519506.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517808.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517808.1:p.Tyr1043_Lys1523delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisGluMetLeuLeuLeuCysProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2885,
          "referenceAllele": "T",
          "start": 2884
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519507.1:c.2766T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517809.1:p.Tyr922Ter",
        "hgvsWellDefined": "XP_011517809.1:p.Tyr922_Ser1495delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519508.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517810.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517810.1:p.Tyr1043_Leu1435delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnTrpLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519509.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517811.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517811.1:p.Tyr1043_Ile1165delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrSerProAlaAsnPheGlnThrSerGlnAlaCysLeuArgSerArgArgLeuAspAspThrCysAspPheCysThrSerValTrpArgLeuArgGluIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519510.1:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517812.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517812.1:p.Tyr1043_Leu1135delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1337,
          "referenceAllele": "T",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519512.1:c.1257T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517814.1:p.Tyr419Ter",
        "hgvsWellDefined": "XP_011517814.1:p.Tyr419_Ser992delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1364,
          "referenceAllele": "T",
          "start": 1363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519513.1:c.798T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517815.1:p.Tyr266Ter",
        "hgvsWellDefined": "XP_011517815.1:p.Tyr266_Ser839delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XR_930492.1:n.3333T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126620"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XR_930493.1:n.3333T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XR_930494.1:n.3333T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS126622"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519498.2:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517800.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517800.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545387"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3379,
          "referenceAllele": "T",
          "start": 3378
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519500.2:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517802.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517802.1:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545388"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519506.2:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517808.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517808.1:p.Tyr1043_Lys1523delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisGluMetLeuLeuLeuCysProLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545389"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519508.2:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517810.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517810.1:p.Tyr1043_Leu1435delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnTrpLeuSerLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519510.2:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517812.1:p.Tyr1043Ter",
        "hgvsWellDefined": "XP_011517812.1:p.Tyr1043_Leu1135delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgCysLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1691,
          "referenceAllele": "T",
          "start": 1690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XM_011519513.2:c.798T>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517815.1:p.Tyr266Ter",
        "hgvsWellDefined": "XP_011517815.1:p.Tyr266_Ser839delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545393"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "XR_001747111.1:n.3333T>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA252974",
      "coordinates": [
        {
          "allele": "G",
          "end": 3333,
          "referenceAllele": "T",
          "start": 3332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007601",
      "geneNCBI_id": 53904,
      "geneSymbol": "MYO3A",
      "hgvs": [
        "NM_017433.5:c.3129T>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_059129.3:p.Tyr1043Ter",
        "hgvsWellDefined": "NP_059129.3:p.Tyr1043_Ser1616delinsHisValGluGlnLeuAsnLeuMetArgLysGluAlaIleAspLysLeuIleLeuIleGlnAlaCysValArgAlaPheLeuCysSerArgArgTyrGlnLysIleGlnGluLysArgLysGluSerAlaIleIleIleGlnSerAlaAlaArgGlyHisLeuValArgLysGlnArgLysGluIleValAspMetLysAsnThrAlaValThrThrIleGlnThrSerAspGlnGluPheAspTyrLysLysAsnPheGluAsnThrArgGluSerPheValLysLysGlnAlaGluAsnAlaIleSerAlaAsnGluArgPheIleSerAlaProAsnAsnLysGlySerValSerValValLysThrSerThrPheLysProGluGluGluThrThrAsnAlaValGluSerAsnAsnArgValTyrGlnThrProLysLysMetAsnAsnValTyrGluGluGluValLysGlnGluPheTyrLeuValGlyProGluValSerProLysGlnLysSerValLysAspLeuGluGluAsnSerAsnLeuArgLysValGluLysGluGluAlaMetIleGlnSerTyrTyrGlnArgTyrThrGluGluArgAsnCysGluGluSerLysAlaAlaTyrLeuGluArgLysAlaIleSerGluArgProSerTyrProValProTrpLeuAlaGluAsnGluThrSerPheLysLysThrLeuGluProThrLeuSerGlnArgSerIleTyrGlnAsnAlaAsnSerMetGluLysGluLysLysThrSerValValThrGlnArgAlaProIleCysSerGlnGluGluGlyArgGlyArgLeuArgHisGluThrValLysGluArgGlnValGluProValThrGlnAlaGlnGluGluGluAspLysAlaAlaValPheIleGlnSerLysTyrArgGlyTyrLysArgArgGlnGlnLeuArgLysAspLysMetSerSerPheLysHisGlnArgIleValThrThrProThrGluValAlaArgAsnThrHisAsnLeuTyrSerTyrProThrLysHisGluGluIleAsnAsnIleLysLysLysAspAsnLysAspSerLysAlaThrSerGluArgGluAlaCysGlyLeuAlaIlePheSerLysGlnIleSerLysLeuSerGluGluTyrPheIleLeuGlnLysLysLeuAsnGluMetIleLeuSerGlnGlnLeuLysSerLeuTyrLeuGlyValSerHisHisLysProIleAsnArgArgValSerSerGlnGlnCysLeuSerGlyValCysLysGlyGluGluProLysIleLeuArgProProArgArgProArgLysProLysThrLeuAsnAsnProGluAspSerThrTyrTyrTyrLeuLeuHisLysSerIleGlnGluGluLysArgArgProArgLysAspSerGlnGlyLysLeuLeuAspLeuGluAspPheTyrTyrLysGluPheLeuProSerArgSerGlyProLysGluHisSerProSerLeuArgGluArgArgProGlnGlnGluLeuGlnAsnGlnCysIleLysAlaAsnGluArgCysTrpAlaAlaGluSerProGluLysGluGluGluArgGluProAlaAlaAsnProTyrAspPheArgArgLeuLeuArgLysThrSerGlnArgArgArgLeuValGlnGlnSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669243",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000642920.2:c.3129T>G"
          },
          "RefSeq": {
            "hgvs": "NM_017433.5:c.3129T>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495965.1:p.Tyr1043Ter"
          },
          "RefSeq": {
            "hgvs": "NP_059129.3:p.Tyr1043Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}