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      "geneNCBI_id": 23345,
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      "proteinEffect": {
        "hgvs": "XP_016866103.1:p.Trp7721Ter"
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      "referenceSequence": "http://reg.genome.network/refseq/RS564635"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23646,
          "referenceAllele": "G",
          "start": 23645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS564636"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23802,
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          "start": 23801
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564637"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23799,
          "referenceAllele": "G",
          "start": 23798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010617.1:c.23316G>A"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016866106.1:p.Trp7772_Phe8720delinsGluGluLeuCysHisGlnLeuSerLeuArgArgGlnGlnIleGlyGluArgLeuAsnGluTrpAlaValPheSerGluLysAsnLysGluLeuCysGluTrpLeuThrGlnMetGluSerLysValSerGlnAsnGlyAspIleLeuIleGluGluMetIleGluLysLeuLysLysAspTyrGlnGluGluIleAlaIleAlaGlnGluAsnLysIleGlnLeuGlnGlnMetGlyGluArgLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564638"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23787,
          "referenceAllele": "G",
          "start": 23786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010618.1:c.23304G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866107.1:p.Trp7768Ter",
        "hgvsWellDefined": "XP_016866107.1:p.Trp7768_Phe8716delinsGluGluLeuCysHisGlnLeuSerLeuArgArgGlnGlnIleGlyGluArgLeuAsnGluTrpAlaValPheSerGluLysAsnLysGluLeuCysGluTrpLeuThrGlnMetGluSerLysValSerGlnAsnGlyAspIleLeuIleGluGluMetIleGluLysLeuLysLysAspTyrGlnGluGluIleAlaIleAlaGlnGluAsnLysIleGlnLeuGlnGlnMetGlyGluArgLeuAlaLysAlaSerHisGluSerLysAlaSerGluIleGluTyrLysLeuGlyLysValAsnAspArgTrpGlnHisLeuLeuAspLeuIleAlaAlaArgValLysLysLeuLysGluThrLeuValAlaValGlnGlnLeuAspLysAsnMetSerSerLeuArgThrTrpLeuAlaHisIleGluSerGluLeuAlaLysProIleValTyrAspSerCysAsnSerGluGluIleGlnArgLysLeuAsnGluGlnGlnGluLeuGlnArgAspIleGluLysHisSerThrGlyValAlaSerValLeuAsnLeuCysGluValLeuLeuHisAspCysAspAlaCysAlaThrAspAlaGluCysAspSerIleGlnGlnAlaThrArgAsnLeuAspArgArgTrpArgAsnIleCysAlaMetSerMetGluArgArgLeuLysIleGluGluThrTrpArgLeuTrpGlnLysPheLeuAspAspTyrSerArgPheGluAspTrpLeuLysSerSerGluArgThrAlaAlaPheProSerSerSerGlyValIleTyrThrValAlaLysGluGluLeuLysLysPheGluAlaPheGlnArgGlnValHisGluCysLeuThrGlnLeuGluLeuIleAsnLysGlnTyrArgArgLeuAlaArgGluAsnArgThrAspSerAlaCysSerLeuLysGlnMetValHisGluGlyAsnGlnArgTrpAspAsnLeuGlnLysArgValThrSerIleLeuArgArgLeuLysHisPheIleGlyGlnArgGluGluPheGluThrAlaArgAspSerIleLeuValTrpLeuThrGluMetAspLeuGlnLeuThrAsnIleGluHisPheSerGluCysAspValGlnAlaLysIleLysGlnLeuLysAlaPheGlnGlnGluIleSerLeuAsnHisAsnLysIleGluGlnIleIleAlaGlnGlyGluGlnLeuIleGluLysSerGluProLeuAspAlaAlaIleIleGluGluGluLeuAspGluLeuArgArgTyrCysGlnGluValPheGlyArgValGluArgTyrHisLysLysLeuIleArgLeuProLeuProAspAspGluHisAspLeuSerAspArgGluLeuGluLeuGluAspSerAlaAlaLeuSerAspLeuHisTrpHisAspArgSerAlaAspSerLeuLeuSerProGlnProSerSerAsnLeuSerLeuSerLeuAlaGlnProLeuArgSerGluArgSerGlyArgAspThrProAlaSerValAspSerIleProLeuGluTrpAspHisAspTyrAspLeuSerArgAspLeuGluSerAlaMetSerArgAlaLeuProSerGluAspGluGluGlyGlnAspAspLysAspPheTyrLeuArgGlyAlaValGlyLeuSerGlyAspHisSerAlaLeuGluSerGlnIleArgGlnLeuGlyLysAlaLeuAspAspSerArgPheGlnIleGlnGlnThrGluAsnIleIleArgSerLysThrProThrGlyProGluLeuAspThrSerTyrLysGlyTyrMetLysLeuLeuGlyGluCysSerSerSerIleAspSerValLysArgLeuGluHisLysLeuLysGluGluGluGluSerLeuProGlyPheValAsnLeuHisSerThrGluThrGlnThrAlaGlyValIleAspArgTrpGluLeuLeuGlnAlaGlnAlaLeuSerLysGluLeuArgMetLysGlnAsnLeuGlnLysTrpGlnGlnPheAsnSerAspLeuAsnSerIleTrpAlaTrpLeuGlyAspThrGluGluGluLeuGluGlnLeuGlnArgLeuGluLeuSerThrAspIleGlnThrIleGluLeuGlnIleLysLysLeuLysGluLeuGlnLysAlaValAspHisArgLysAlaIleIleLeuSerIleAsnLeuCysSerProGluPheThrGlnAlaAspSerLysGluSerArgAspLeuGlnAspArgLeuSerGlnMetAsnGlyArgTrpAspArgValCysSerLeuLeuGluGluTrpArgGlyLeuLeuGlnAspAlaLeuMetGlnCysGlnGlyPheHisGluMetSerHisGlyLeuLeuLeuMetLeuGluAsnIleAspArgArgLysAsnGluIleValProIleAspSerAsnLeuAspAlaGluIleLeuGlnAspHisHisLysGlnLeuMetGlnIleLysHisGluLeuLeuGluSerGlnLeuArgValAlaSerLeuGlnAspMetSerCysGlnLeuLeuValAsnAlaGluGlyThrAspCysLeuGluAlaLysGluLysValHisValIleGlyAsnArgLeuLysLeuLeuLeuLysGluValSerArgHisIleLysGluLeuGluLysLeuLeuAspValSerSerSerGlnGlnAspLeuSerSerTrpSerSerAlaAspGluLeuAspThrSerGlySerValSerProThrSerGlyArgSerThrProAsnArgGlnLysThrValHisLysArgTrpLeuArgPheLeuProPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564639"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 21881,
          "referenceAllele": "G",
          "start": 21880
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "XM_017010619.1:c.21594G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016866108.1:p.Trp7198Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS564640"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23848,
          "referenceAllele": "G",
          "start": 23847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_182961.4:c.23283G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_892006.3:p.Trp7761Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673038",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367255.10:c.23283G>A"
          },
          "RefSeq": {
            "hgvs": "NM_182961.4:c.23283G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356224.5:p.Trp7761Ter"
          },
          "RefSeq": {
            "hgvs": "NP_892006.3:p.Trp7761Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 23546,
          "referenceAllele": "G",
          "start": 23545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017089",
      "geneNCBI_id": 23345,
      "geneSymbol": "SYNE1",
      "hgvs": [
        "NM_033071.5:c.23070G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_149062.2:p.Trp7690Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728908"
    }
  ],
  "type": "nucleotide"
}