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      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934039.1:n.4344C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_011523918.2:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522220.1:p.Gln1229Ter",
        "hgvsWellDefined": "XP_011522220.1:p.Gln1229_Val2117delinsLeuGluAspLeuGlnGluThrThrValLeuSerAsnLeuLysIleArgPheGluArgAsnLeuIleTyrThrTyrIleGlySerIleLeuValSerValAsnProTyrGlnMetPheGlyIleTyrGlyProGluGlnValGlnGlnTyrAsnGlyArgAlaLeuGlyGluAsnProProHisLeuPheAlaValAlaAsnLeuAlaPheAlaLysMetLeuAspAlaLysGlnAsnGlnCysIleIleIleSerGlyGluSerGlySerGlyLysThrGluAlaThrLysLeuIleLeuArgTyrLeuAlaAlaMetAsnGlnLysArgGluValMetGlnGlnIleLeuGluAlaThrProLeuLeuGluSerPheGlyAsnAlaLysThrValArgAsnAspAsnSerSerArgPheGlyLysPheValGluIlePheLeuGluGlyGlyValIleSerGlyAlaIleThrSerGlnTyrLeuLeuGluLysSerArgIleValPheGlnAlaLysAsnGluArgAsnTyrHisIlePheTyrGluLeuLeuAlaGlyLeuProAlaGlnLeuArgGlnAlaPheSerLeuGlnGluAlaGluThrTyrTyrTyrLeuAsnGlnGlyGlyAsnCysGluIleAlaGlyLysSerAspAlaAspAspPheArgArgLeuLeuAlaAlaMetGluValLeuGlyPheSerSerGluAspGlnAspSerIlePheArgIleLeuAlaSerIleLeuHisLeuGlyAsnValTyrPheGluLysTyrGluThrAspAlaGlnGluValAlaSerValValSerAlaArgGluIleGlnAlaValAlaGluLeuLeuGlnIleSerProGluGlyLeuGlnLysAlaIleThrPheLysValThrGluThrMetArgGluLysIlePheThrProLeuThrValGluSerAlaValAspAlaArgAspAlaIleAlaLysValLeuTyrAlaLeuLeuPheSerTrpLeuIleThrArgValAsnAlaLeuValSerProArgGlnAspThrLeuSerIleAlaIleLeuAspIleTyrGlyPheGluAspLeuSerPheAsnSerPheGluGlnLeuCysIleAsnTyrAlaAsnGluAsnLeuGlnTyrLeuPheAsnLysIleValPheGlnGluGluGlnGluGluTyrIleArgGluGlnIleAspTrpGlnGluIleThrPheAlaAspAsnGlnProCysIleAsnLeuIleSerLeuLysProTyrGlyIleLeuArgIleLeuAspAspGlnCysCysPheProGlnAlaThrAspHisThrPheLeuGlnLysCysHisTyrHisHisGlyAlaAsnProLeuTyrSerLysProLysMetProLeuProGluPheThrIleLysHisTyrAlaGlyLysValThrTyrGlnValHisLysPheLeuAspLysAsnHisAspGlnValArgGlnAspValLeuAspLeuPheValArgSerArgThrArgValValAlaHisLeuPheSerSerHisAlaProGlnAlaAlaProGlnArgLeuGlyLysSerSerSerValThrArgLeuTyrLysAlaHisThrValAlaAlaLysPheGlnGlnSerLeuLeuAspLeuValGluLysMetGluArgCysAsnProLeuPheMetArgCysLeuLysProAsnHisLysLysGluProGlyLeuPheGluProAspValValMetAlaGlnLeuArgTyrSerGlyValLeuGluThrValArgIleArgLysGluGlyPheProValArgLeuProPheGlnGlyPheIleAspArgTyrCysCysLeuValAlaLeuLysHisAspLeuProAlaAsnGlyAspMetCysValSerValLeuSerArgLeuCysLysValMetProAsnMetTyrArgValGlyValSerLysLeuPheLeuLysGluHisLeuTyrGlnLeuLeuGluSerMetArgGluHisValLeuAsnLeuAlaAlaLeuThrLeuGlnArgCysLeuArgGlyPhePheIleLysArgArgPheArgSerLeuArgHisLysIleIleLeuLeuGlnSerArgAlaArgGlyTyrLeuAlaArgGlnArgTyrGlnGlnMetArgArgSerLeuValLysPheArgSerLeuValHisAlaTyrValSerArgArgArgTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuIleLeuArgPheMetGlyAspProHisLeuHisGlyAlaArgGluAsnIlePheGlyAsnTyrIleValGlnLysGlyLeuAlaValProGluLeuArgAspGluIleLeuAlaGlnLeuAlaAsnGlnValCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024714.2:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880203.1:p.Gln1229Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_017024715.2:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880204.1:p.Gln1229Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575213"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_024450780.1:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306548.1:p.Gln1229Ter",
        "hgvsWellDefined": "XP_024306548.1:p.Gln1229_Pro2098delinsLeuGluAspLeuGlnGluThrThrValLeuSerAsnLeuLysIleArgPheGluArgAsnLeuIleTyrThrTyrIleGlySerIleLeuValSerValAsnProTyrGlnMetPheGlyIleTyrGlyProGluGlnValGlnGlnTyrAsnGlyArgAlaLeuGlyGluAsnProProHisLeuPheAlaValAlaAsnLeuAlaPheAlaLysMetLeuAspAlaLysGlnAsnGlnCysIleIleIleSerGlyGluSerGlySerGlyLysThrGluAlaThrLysLeuIleLeuArgTyrLeuAlaAlaMetAsnGlnLysArgGluValMetGlnGlnIleLeuGluAlaThrProLeuLeuGluSerPheGlyAsnAlaLysThrValArgAsnAspAsnSerSerArgPheGlyLysPheValGluIlePheLeuGluGlyGlyValIleSerGlyAlaIleThrSerGlnTyrLeuLeuGluLysSerArgIleValPheGlnAlaLysAsnGluArgAsnTyrHisIlePheTyrGluLeuLeuAlaGlyLeuProAlaGlnLeuArgGlnAlaPheSerLeuGlnGluAlaGluThrTyrTyrTyrLeuAsnGlnGlyGlyAsnCysGluIleAlaGlyLysSerAspAlaAspAspPheArgArgLeuLeuAlaAlaMetGluValLeuGlyPheSerSerGluAspGlnAspSerIlePheArgIleLeuAlaSerIleLeuHisLeuGlyAsnValTyrPheGluLysTyrGluThrAspAlaGlnGluValAlaSerValValSerAlaArgGluIleGlnAlaValAlaGluLeuLeuGlnIleSerProGluGlyLeuGlnLysAlaIleThrPheLysValThrGluThrMetArgGluLysIlePheThrProLeuThrValGluSerAlaValAspAlaArgAspAlaIleAlaLysValLeuTyrAlaLeuLeuPheSerTrpLeuIleThrArgValAsnAlaLeuValSerProArgGlnAspThrLeuSerIleAlaIleLeuAspIleTyrGlyPheGluAspLeuSerPheAsnSerPheGluGlnLeuCysIleAsnTyrAlaAsnGluAsnLeuGlnTyrLeuPheAsnLysIleValPheGlnGluGluGlnGluGluTyrIleArgGluGlnIleAspTrpGlnGluIleThrPheAlaAspAsnGlnProCysIleAsnLeuIleSerLeuLysProTyrGlyIleLeuArgIleLeuAspAspGlnCysCysPheProGlnAlaThrAspHisThrPheLeuGlnLysCysHisTyrHisHisGlyAlaAsnProLeuTyrSerLysProLysMetProLeuProGluPheThrIleLysHisTyrAlaGlyLysValThrTyrGlnValHisLysPheLeuAspLysAsnHisAspGlnValArgGlnAspValLeuAspLeuPheValArgSerArgThrArgValValAlaHisLeuPheSerSerHisAlaProGlnAlaAlaProGlnArgLeuGlyLysSerSerSerValThrArgLeuTyrLysAlaHisThrValAlaAlaLysPheGlnGlnSerLeuLeuAspLeuValGluLysMetGluArgCysAsnProLeuPheMetArgCysLeuLysProAsnHisLysLysGluProGlyLeuPheGluProAspValValMetAlaGlnLeuArgTyrSerGlyValLeuGluThrValArgIleArgLysGluGlyPheProValArgLeuProPheGlnGlyPheIleAspArgTyrCysCysLeuValAlaLeuLysHisAspLeuProAlaAsnGlyAspMetCysValSerValLeuSerArgLeuCysLysValMetProAsnMetTyrArgValGlyValSerLysLeuPheLeuLysGluHisLeuTyrGlnLeuLeuGluSerMetArgGluHisValLeuAsnLeuAlaAlaLeuThrLeuGlnArgCysLeuArgGlyPhePheIleLysArgArgPheArgSerLeuArgHisLysIleIleLeuLeuGlnSerArgAlaArgGlyTyrLeuAlaArgGlnArgTyrGlnGlnMetArgArgSerLeuValLysPheArgSerLeuValHisAlaTyrValSerArgArgArgTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuProSerSerTrpGlnLysLysLysLysLysAsnSerAlaLeuGluProLeuLysAspThrLysLysArgProArgSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_024450781.1:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306549.1:p.Gln1229Ter",
        "hgvsWellDefined": "XP_024306549.1:p.Gln1229_Val2074delinsLeuGluAspLeuGlnGluThrThrValLeuSerAsnLeuLysIleArgPheGluArgAsnLeuIleTyrThrTyrIleGlySerIleLeuValSerValAsnProTyrGlnMetPheGlyIleTyrGlyProGluGlnValGlnGlnTyrAsnGlyArgAlaLeuGlyGluAsnProProHisLeuPheAlaValAlaAsnLeuAlaPheAlaLysMetLeuAspAlaLysGlnAsnGlnCysIleIleIleSerGlyGluSerGlySerGlyLysThrGluAlaThrLysLeuIleLeuArgTyrLeuAlaAlaMetAsnGlnLysArgGluValMetGlnGlnIleLeuGluAlaThrProLeuLeuGluSerPheGlyAsnAlaLysThrValArgAsnAspAsnSerSerArgPheGlyLysPheValGluIlePheLeuGluGlyGlyValIleSerGlyAlaIleThrSerGlnTyrLeuLeuGluLysSerArgIleValPheGlnAlaLysAsnGluArgAsnTyrHisIlePheTyrGluLeuLeuAlaGlyLeuProAlaGlnLeuArgGlnAlaPheSerLeuGlnGluAlaGluThrTyrTyrTyrLeuAsnGlnGlyGlyAsnCysGluIleAlaGlyLysSerAspAlaAspAspPheArgArgLeuLeuAlaAlaMetGluValLeuGlyPheSerSerGluAspGlnAspSerIlePheArgIleLeuAlaSerIleLeuHisLeuGlyAsnValTyrPheGluLysTyrGluThrAspAlaGlnGluValAlaSerValValSerAlaArgGluIleGlnAlaValAlaGluLeuLeuGlnIleSerProGluGlyLeuGlnLysAlaIleThrPheLysValThrGluThrMetArgGluLysIlePheThrProLeuThrValGluSerAlaValAspAlaArgAspAlaIleAlaLysValLeuTyrAlaLeuLeuPheSerTrpLeuIleThrArgValAsnAlaLeuValSerProArgGlnAspThrLeuSerIleAlaIleLeuAspIleTyrGlyPheGluAspLeuSerPheAsnSerPheGluGlnLeuCysIleAsnTyrAlaAsnGluAsnLeuGlnTyrLeuPheAsnLysIleValPheGlnGluGluGlnGluGluTyrIleArgGluGlnIleAspTrpGlnGluIleThrPheAlaAspAsnGlnProCysIleAsnLeuIleSerLeuLysProTyrGlyIleLeuArgIleLeuAspAspGlnCysCysPheProGlnAlaThrAspHisThrPheLeuGlnLysCysHisTyrHisHisGlyAlaAsnProLeuTyrSerLysProLysMetProLeuProGluPheThrIleLysHisTyrAlaGlyLysValThrTyrGlnValHisLysPheLeuAspLysAsnHisAspGlnValArgGlnAspValLeuAspLeuPheValArgSerArgThrArgValValAlaHisLeuPheSerSerHisAlaProGlnAlaAlaProGlnArgLeuGlyLysSerSerSerValThrArgLeuTyrLysAlaHisThrValAlaAlaLysPheGlnGlnSerLeuLeuAspLeuValGluLysMetGluArgCysAsnProLeuPheMetArgCysLeuLysProAsnHisLysLysGluProGlyLeuPheGluProAspValValMetAlaGlnLeuArgTyrSerGlyValLeuGluThrValArgIleArgLysGluGlyPheProValArgLeuProPheGlnGlyPheIleAspArgTyrCysCysLeuValAlaLeuLysHisAspLeuProAlaAsnGlyAspMetCysValSerValLeuSerArgLeuCysLysValMetProAsnMetTyrArgValGlyValSerLysLeuPheLeuLysGluHisLeuTyrGlnLeuLeuGluSerMetArgGluHisValLeuAsnLeuAlaAlaLeuThrLeuGlnArgCysLeuArgGlyPhePheIleLysArgArgPheArgSerLeuArgHisLysIleIleLeuLeuGlnSerArgAlaArgGlyTyrLeuAlaArgGlnArgTyrGlnGlnMetArgArgSerLeuValLysPheArgSerLeuValHisAlaTyrValSerArgArgArgTyrLeuLysGluLeuSerLysArgGluValValAlaValGlyHisLeuGluValProAlaGluLeuAlaGlyLeuLeuGlnAlaValAlaGlyLeuGlyLeuAlaGlnValProGlnValAlaProValArgThrProArgLeuGlnAlaGluProArgValThrLeuProLeuAspIleAsnAsnTyrProMetAlaLysPheValGlnCysHisPheLysGluProAlaPheGlyMetLeuThrValProLeuArgThrProLeuThrGlnLeuProAlaGluHisHisAlaGluAlaValSerIlePheLysLeuValCysValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XM_024450782.1:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306550.1:p.Gln1229Ter",
        "hgvsWellDefined": "XP_024306550.1:p.Gln1229_Thr2041delinsLeuGluAspLeuGlnGluThrThrValLeuSerAsnLeuLysIleArgPheGluArgAsnLeuIleTyrThrTyrIleGlySerIleLeuValSerValAsnProTyrGlnMetPheGlyIleTyrGlyProGluGlnValGlnGlnTyrAsnGlyArgAlaLeuGlyGluAsnProProHisLeuPheAlaValAlaAsnLeuAlaPheAlaLysMetLeuAspAlaLysGlnAsnGlnCysIleIleIleSerGlyGluSerGlySerGlyLysThrGluAlaThrLysLeuIleLeuArgTyrLeuAlaAlaMetAsnGlnLysArgGluValMetGlnGlnIleLeuGluAlaThrProLeuLeuGluSerPheGlyAsnAlaLysThrValArgAsnAspAsnSerSerArgPheGlyLysPheValGluIlePheLeuGluGlyGlyValIleSerGlyAlaIleThrSerGlnTyrLeuLeuGluLysSerArgIleValPheGlnAlaLysAsnGluArgAsnTyrHisIlePheTyrGluLeuLeuAlaGlyLeuProAlaGlnLeuArgGlnAlaPheSerLeuGlnGluAlaGluThrTyrTyrTyrLeuAsnGlnGlyGlyAsnCysGluIleAlaGlyLysSerAspAlaAspAspPheArgArgLeuLeuAlaAlaMetGluValLeuGlyPheSerSerGluAspGlnAspSerIlePheArgIleLeuAlaSerIleLeuHisLeuGlyAsnValTyrPheGluLysTyrGluThrAspAlaGlnGluValAlaSerValValSerAlaArgGluIleGlnAlaValAlaGluLeuLeuGlnIleSerProGluGlyLeuGlnLysAlaIleThrPheLysValThrGluThrMetArgGluLysIlePheThrProLeuThrValGluSerAlaValAspAlaArgAspAlaIleAlaLysValLeuTyrAlaLeuLeuPheSerTrpLeuIleThrArgValAsnAlaLeuValSerProArgGlnAspThrLeuSerIleAlaIleLeuAspIleTyrGlyPheGluAspLeuSerPheAsnSerPheGluGlnLeuCysIleAsnTyrAlaAsnGluAsnLeuGlnTyrLeuPheAsnLysIleValPheGlnGluGluGlnGluGluTyrIleArgGluGlnIleAspTrpGlnGluIleThrPheAlaAspAsnGlnProCysIleAsnLeuIleSerLeuLysProTyrGlyIleLeuArgIleLeuAspAspGlnCysCysPheProGlnAlaThrAspHisThrPheLeuGlnLysCysHisTyrHisHisGlyAlaAsnProLeuTyrSerLysProLysMetProLeuProGluPheThrIleLysHisTyrAlaGlyLysValThrTyrGlnValHisLysPheLeuAspLysAsnHisAspGlnValArgGlnAspValLeuAspLeuPheValArgSerArgThrArgValValAlaHisLeuPheSerSerHisAlaProGlnAlaAlaProGlnArgLeuGlyLysSerSerSerValThrArgLeuTyrLysAlaHisThrValAlaAlaLysPheGlnGlnSerLeuLeuAspLeuValGluLysMetGluArgCysAsnProLeuPheMetArgCysLeuLysProAsnHisLysLysGluProGlyLeuPheGluProAspValValMetAlaGlnLeuArgTyrSerGlyValLeuGluThrValArgIleArgLysGluGlyPheProValArgLeuProPheGlnGlyPheIleAspArgTyrCysCysLeuValAlaLeuLysHisAspLeuProAlaAsnGlyAspMetCysValSerValLeuSerArgLeuCysLysValMetProAsnMetTyrArgValGlyValSerLysLeuPheLeuLysGluHisLeuTyrGlnLeuLeuGluSerMetArgGluHisValLeuAsnLeuAlaAlaLeuThrLeuGlnArgCysLeuArgGlyPhePheIleLysArgArgPheArgSerLeuArgHisLysIleIleLeuLeuGlnSerArgAlaArgGlyTyrLeuAlaArgGlnArgTyrGlnGlnMetArgArgSerLeuValLysPheArgSerLeuValHisAlaTyrValSerArgArgArgTyrLeuLysArgPheSerProSerAlaCysLeuCysPheSerLeuAlaLeuSerPheSerLeuProPheSerLeuAlaAsnLeuSerLeuProProHisLeuTrpSerGlyAlaValThrSerThrGlnGlnAlaSerCysProProCysLeuSerValAlaAlaLeuArgLysLeuAlaTrpProAlaTrpValProValValThrSerAlaCysHisSerProThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4383,
          "referenceAllele": "C",
          "start": 4382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "XR_934039.2:n.4383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS610570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3973,
          "referenceAllele": "C",
          "start": 3972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007594",
      "geneNCBI_id": 51168,
      "geneSymbol": "MYO15A",
      "hgvs": [
        "NM_016239.4:c.3685C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_057323.3:p.Gln1229Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669046",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000647165.2:c.3685C>T"
          },
          "RefSeq": {
            "hgvs": "NM_016239.4:c.3685C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000495481.1:p.Gln1229Ter"
          },
          "RefSeq": {
            "hgvs": "NP_057323.3:p.Gln1229Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}