{
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  "@id": "http://reg.genome.network/allele/CA1906743",
  "communityStandardTitle": [
    "NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/578209",
        "RCV": [
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          "RCV000781648",
          "RCV002499258",
          "RCV003465616"
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        "variationId": 578209
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      }
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        "@id": "http://myvariant.info/v1/variant/chr2:g.152381779G>C?assembly=hg19",
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      "referenceSequence": "http://reg.genome.network/refseq/RS247675"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 6360,
          "referenceAllele": "C",
          "start": 6359
        }
      ],
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        "hgvsWellDefined": "ENSP00000410961.1:p.Tyr2120_Ile3007delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283187"
    },
    {
      "coordinates": [
        {
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        "hgvsWellDefined": "XP_005246661.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246606.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246663.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246663.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057701"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246608.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246665.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246665.1:p.Tyr7390_Ile8339delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057702"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246610.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246667.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246667.1:p.Tyr7390_Ile8308delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057703"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246611.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246668.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246668.1:p.Tyr7390_Ile8308delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057704"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21631,
          "referenceAllele": "C",
          "start": 21630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246612.1:c.21441C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246669.1:p.Tyr7147Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057705"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21631,
          "referenceAllele": "C",
          "start": 21630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246613.1:c.21441C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246670.1:p.Tyr7147Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057706"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246615.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246672.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246672.1:p.Tyr7390_Ile8277delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057707"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246616.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246673.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246673.1:p.Tyr7390_Thr8018delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValPheTrpLysGluArgGlyLysAsnAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057708"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19444,
          "referenceAllele": "C",
          "start": 19443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246617.1:c.19254C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246674.1:p.Tyr6418Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057709"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712541.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712604.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_006712604.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712542.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712605.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_006712605.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069700"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511224.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509526.1:p.Tyr7390Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511225.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509527.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_011509527.1:p.Tyr7390_Ile8277delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078486"
    },
    {
      "coordinates": [
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          "allele": "G",
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      "proteinEffect": {
        "hgvs": "XP_005246665.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246665.1:p.Tyr7390_Ile8339delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532645"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246610.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246667.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246667.1:p.Tyr7390_Ile8308delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246611.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246668.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246668.1:p.Tyr7390_Ile8308delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21631,
          "referenceAllele": "C",
          "start": 21630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246612.2:c.21441C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246669.1:p.Tyr7147Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532648"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 21631,
          "referenceAllele": "C",
          "start": 21630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246613.2:c.21441C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246670.1:p.Tyr7147Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532649"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246615.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246672.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_005246672.1:p.Tyr7390_Ile8277delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532650"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 19444,
          "referenceAllele": "C",
          "start": 19443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246617.2:c.19254C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246674.1:p.Tyr6418Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532651"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712541.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712604.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_006712604.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538289"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712542.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712605.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_006712605.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538290"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511225.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509527.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_011509527.1:p.Tyr7390_Ile8277delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 20173,
          "referenceAllele": "C",
          "start": 20172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511226.2:c.19983C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509528.1:p.Tyr6661Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 17986,
          "referenceAllele": "C",
          "start": 17985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511227.2:c.17796C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509529.1:p.Tyr5932Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542054"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004177.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859666.1:p.Tyr7390Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559755"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004178.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859667.1:p.Tyr7390Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559756"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004179.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859668.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859668.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004180.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859669.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859669.1:p.Tyr7390_Ile8370delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559758"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004181.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859670.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859670.1:p.Tyr7390_Ile8339delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559759"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004182.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859671.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859671.1:p.Tyr7390_Ile8308delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559760"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004183.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859672.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859672.1:p.Tyr7390_Ile8277delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559761"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004184.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859673.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859673.1:p.Tyr7390_Ile8277delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559762"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22360,
          "referenceAllele": "C",
          "start": 22359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004185.1:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859674.1:p.Tyr7390Ter",
        "hgvsWellDefined": "XP_016859674.1:p.Tyr7390_Ile8184delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559763"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8213,
          "endIntronDirection": "-",
          "endIntronOffset": 8667,
          "referenceAllele": "G",
          "start": 8213,
          "startIntronDirection": "-",
          "startIntronOffset": 8668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023207",
      "geneNCBI_id": 55183,
      "geneSymbol": "RIF1",
      "hgvs": [
        "XR_001738817.2:n.8214-8668G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589267"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22467,
          "referenceAllele": "C",
          "start": 22466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001271208.2:c.22275C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258137.2:p.Tyr7425Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829544426",
      "coordinates": [
        {
          "allele": "G",
          "end": 17259,
          "referenceAllele": "C",
          "start": 17258
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_004543.5:c.17067C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004534.3:p.Tyr5689Ter",
        "hgvsWellDefined": "NP_004534.3:p.Tyr5689_Ile6669delinsLysLysLysPheValLysGluLysGlyLysSerAsnTyrSerIleMetLeuGluProProGluValLysHisAlaMetGluValAlaLysLysGlnSerAspValAlaTyrArgLysAspAlaLysGluAsnLeuHisTyrThrThrValAlaAspArgProAspIleLysLysAlaThrGlnAlaAlaLysGlnAlaSerGluValGluTyrArgAlaLysHisArgLysGluGlySerHisGlyLeuSerMetLeuGlyArgProAspIleGluMetAlaLysLysAlaAlaLysLeuSerSerGlnValLysTyrArgGluAsnPheAspLysGluLysGlyLysThrProLysTyrAsnProLysAspSerGlnLeuTyrLysValMetLysAspAlaAsnAsnLeuAlaSerGluValLysTyrLysAlaAspLeuLysLysLeuHisLysProValThrAspMetLysGluSerLeuIleMetAsnHisValLeuAsnThrSerGlnLeuAlaSerSerTyrGlnTyrLysLysLysTyrGluLysSerLysGlyHisTyrHisThrIleProAspAsnLeuGluGlnLeuHisLeuLysGluAlaThrGluLeuGlnSerIleValLysTyrLysGluLysTyrGluLysGluArgGlyLysProMetLeuAspPheGluThrProThrTyrIleThrAlaLysGluSerGlnGlnMetGlnSerGlyLysGluTyrArgLysAspTyrGluGluSerIleLysGlyArgAsnLeuThrGlyLeuGluValThrProAlaLeuLeuHisValLysTyrAlaThrLysIleAlaSerGluLysGluTyrArgLysAspLeuGluGluSerIleArgGlyLysGlyLeuThrGluMetGluAspThrProAspMetLeuArgAlaLysAsnAlaThrGlnIleLeuAsnGluLysGluTyrLysArgAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22362,
          "referenceAllele": "C",
          "start": 22361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001164507.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157979.2:p.Tyr7390Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713104",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000427231.7:c.22170C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001164507.2:c.22170C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416578.2:p.Tyr7390Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001157979.2:p.Tyr7390Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 22362,
          "referenceAllele": "C",
          "start": 22361
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001164508.2:c.22170C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157980.2:p.Tyr7390Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713105",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397345.8:c.22170C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001164508.2:c.22170C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380505.3:p.Tyr7390Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001157980.2:p.Tyr7390Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}