{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA348751942",
  "communityStandardTitle": [
    "NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=790057[alleleid]",
        "alleleId": 790057,
        "preferredName": "NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/801764",
        "RCV": [
          "RCV000986832",
          "RCV001526961",
          "RCV003467544"
        ],
        "variationId": 801764
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.152370195G>A?assembly=hg19",
        "id": "chr2:g.152370195G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.151513681G>A?assembly=hg38",
        "id": "chr2:g.151513681G>A"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1575714905",
        "rs": 1575714905
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    ],
    "gnomAD_4": [
      {
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        "id": "2-151513681-G-A",
        "variant": "2:151513681 G / A"
      }
    ]
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      "chromosome": "2",
      "coordinates": [
        {
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          "start": 151513680
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "2",
      "coordinates": [
        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "2",
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        {
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      "referenceGenome": "NCBI36",
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    },
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      "coordinates": [
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        "LRG_202:g.225807C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001584"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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        "ENST00000434685.6:c.2472C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS824863"
    },
    {
      "coordinates": [
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          "end": 819,
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      "gene": "http://reg.genome.network/gene/GN007720",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS831471"
    },
    {
      "coordinates": [
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      ],
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      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000690043.1:c.5880C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS832505"
    },
    {
      "coordinates": [
        {
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          "end": 2054,
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      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS834010"
    },
    {
      "coordinates": [
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753632",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000397345.8:c.23140C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164508.2:c.23140C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000380505.3:p.Arg7714Ter"
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          "RefSeq": {
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          }
        }
      }
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    {
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        {
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          "end": 23332,
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          "start": 23331
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      "geneNCBI_id": 4703,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000416578.2:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755169",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000427231.7:c.23140C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164507.2:c.23140C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416578.2:p.Arg7714Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001157979.2:p.Arg7714Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18240,
          "referenceAllele": "C",
          "start": 18239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000172853.14:c.18037C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000172853.10:p.Arg6013Ter",
        "hgvsWellDefined": "ENSP00000172853.10:p.Arg6013_Ile6669delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23343,
          "referenceAllele": "C",
          "start": 23342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000397345.7:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000380505.3:p.Arg7714Ter",
        "hgvsWellDefined": "ENSP00000380505.3:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18240,
          "referenceAllele": "C",
          "start": 18239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000409198.5:c.18037C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386259.1:p.Arg6013Ter",
        "hgvsWellDefined": "ENSP00000386259.1:p.Arg6013_Ile6669delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281341"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7330,
          "referenceAllele": "C",
          "start": 7329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000413693.5:c.7330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410961.1:p.Arg2444Ter",
        "hgvsWellDefined": "ENSP00000410961.1:p.Arg2444_Ile3007delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23343,
          "referenceAllele": "C",
          "start": 23342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000427231.6:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416578.2:p.Arg7714Ter",
        "hgvsWellDefined": "ENSP00000416578.2:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000434685.5:c.897C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS293160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23140,
          "referenceAllele": "C",
          "start": 23139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000603639.5:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000473894.1:p.Arg7714Ter",
        "hgvsWellDefined": "ENSP00000473894.1:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS398690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23140,
          "referenceAllele": "C",
          "start": 23139
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000604864.5:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000474498.1:p.Arg7714Ter",
        "hgvsWellDefined": "ENSP00000474498.1:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS399216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23448,
          "referenceAllele": "C",
          "start": 23447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "ENST00000618972.4:c.23245C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000484342.1:p.Arg7749Ter",
        "hgvsWellDefined": "ENSP00000484342.1:p.Arg7749_Ile8560delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23343,
          "referenceAllele": "C",
          "start": 23342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001164507.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157979.1:p.Arg7714Ter",
        "hgvsWellDefined": "NP_001157979.1:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23343,
          "referenceAllele": "C",
          "start": 23342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001164508.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157980.1:p.Arg7714Ter",
        "hgvsWellDefined": "NP_001157980.1:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23448,
          "referenceAllele": "C",
          "start": 23447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001271208.1:c.23245C>T",
        "LRG_202t1:c.23245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258137.1:p.Arg7749Ter",
        "hgvsWellDefined": "NP_001258137.1:p.Arg7749_Ile8560delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020514"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18240,
          "referenceAllele": "C",
          "start": 18239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_004543.4:c.18037C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004534.2:p.Arg6013Ter",
        "hgvsWellDefined": "NP_004534.2:p.Arg6013_Ile6669delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246590.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246647.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246647.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246591.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246648.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246648.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057687"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246592.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246649.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246649.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246593.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246650.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246650.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246594.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246651.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246651.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246595.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246652.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246652.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246596.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246653.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246653.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246597.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246654.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246654.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057693"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246598.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246655.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246655.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057694"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246599.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246656.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246656.1:p.Arg7714_Ile8432delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246600.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246657.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246657.1:p.Arg7714_Ile8432delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057696"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246601.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246658.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246658.1:p.Arg7714_Ile8401delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246602.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246659.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246659.1:p.Arg7714_Ile8401delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246603.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246660.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246660.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246604.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246661.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246661.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246606.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246663.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246663.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057701"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246608.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246665.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246665.1:p.Arg7714_Ile8339delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246610.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246667.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246667.1:p.Arg7714_Ile8308delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246611.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246668.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246668.1:p.Arg7714_Ile8308delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057704"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22601,
          "referenceAllele": "C",
          "start": 22600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246612.1:c.22411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246669.1:p.Arg7471Ter",
        "hgvsWellDefined": "XP_005246669.1:p.Arg7471_Ile8282delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057705"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22601,
          "referenceAllele": "C",
          "start": 22600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246613.1:c.22411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246670.1:p.Arg7471Ter",
        "hgvsWellDefined": "XP_005246670.1:p.Arg7471_Ile8282delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057706"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246615.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246672.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246672.1:p.Arg7714_Ile8277delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246616.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246673.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246673.1:p.Arg7714_Thr8018delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValPheTrpLysGluArgGlyLysAsnAlaThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20414,
          "referenceAllele": "C",
          "start": 20413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246617.1:c.20224C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246674.1:p.Arg6742Ter",
        "hgvsWellDefined": "XP_005246674.1:p.Arg6742_Ile7553delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712541.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712604.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_006712604.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712542.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712605.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_006712605.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069700"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511224.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509526.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_011509526.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511225.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509527.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_011509527.1:p.Arg7714_Ile8277delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21143,
          "referenceAllele": "C",
          "start": 21142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511226.1:c.20953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509528.1:p.Arg6985Ter",
        "hgvsWellDefined": "XP_011509528.1:p.Arg6985_Ile7796delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078487"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18956,
          "referenceAllele": "C",
          "start": 18955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511227.1:c.18766C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509529.1:p.Arg6256Ter",
        "hgvsWellDefined": "XP_011509529.1:p.Arg6256_Ile7067delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS078488"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 7838,
          "endIntronDirection": "-",
          "endIntronOffset": 20251,
          "referenceAllele": "G",
          "start": 7838,
          "startIntronDirection": "-",
          "startIntronOffset": 20252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023207",
      "geneNCBI_id": 55183,
      "geneSymbol": "RIF1",
      "hgvs": [
        "XR_922955.1:n.7839-20252G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS120017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246590.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246647.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246647.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532631"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246591.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246648.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246648.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532632"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246592.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246649.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246649.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532633"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246593.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246650.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246650.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246594.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246651.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246651.1:p.Arg7714_Ile8494delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532635"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246596.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246653.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246653.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532636"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246597.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246654.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246654.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532637"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246598.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246655.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246655.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532638"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246599.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246656.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246656.1:p.Arg7714_Ile8432delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246601.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246658.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246658.1:p.Arg7714_Ile8401delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246602.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246659.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246659.1:p.Arg7714_Ile8401delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532641"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246603.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246660.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246660.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532642"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246604.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246661.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246661.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246606.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246663.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246663.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246608.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246665.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246665.1:p.Arg7714_Ile8339delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532645"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246610.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246667.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246667.1:p.Arg7714_Ile8308delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532646"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246611.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246668.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246668.1:p.Arg7714_Ile8308delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22601,
          "referenceAllele": "C",
          "start": 22600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246612.2:c.22411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246669.1:p.Arg7471Ter",
        "hgvsWellDefined": "XP_005246669.1:p.Arg7471_Ile8282delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532648"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 22601,
          "referenceAllele": "C",
          "start": 22600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246613.2:c.22411C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246670.1:p.Arg7471Ter",
        "hgvsWellDefined": "XP_005246670.1:p.Arg7471_Ile8282delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246615.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246672.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_005246672.1:p.Arg7714_Ile8277delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532650"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 20414,
          "referenceAllele": "C",
          "start": 20413
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_005246617.2:c.20224C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246674.1:p.Arg6742Ter",
        "hgvsWellDefined": "XP_005246674.1:p.Arg6742_Ile7553delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532651"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712541.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712604.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_006712604.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538289"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_006712542.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712605.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_006712605.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538290"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511225.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509527.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_011509527.1:p.Arg7714_Ile8277delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21143,
          "referenceAllele": "C",
          "start": 21142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511226.2:c.20953C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509528.1:p.Arg6985Ter",
        "hgvsWellDefined": "XP_011509528.1:p.Arg6985_Ile7796delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 18956,
          "referenceAllele": "C",
          "start": 18955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_011511227.2:c.18766C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011509529.1:p.Arg6256Ter",
        "hgvsWellDefined": "XP_011509529.1:p.Arg6256_Ile7067delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23219,
          "referenceAllele": "C",
          "start": 23218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004177.1:c.23029C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859666.1:p.Arg7677Ter",
        "hgvsWellDefined": "XP_016859666.1:p.Arg7677_Ile8488delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559755"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004178.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859667.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859667.1:p.Arg7714_Ile8463delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559756"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004179.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859668.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859668.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559757"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004180.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859669.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859669.1:p.Arg7714_Ile8370delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559758"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004181.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859670.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859670.1:p.Arg7714_Ile8339delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559759"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004182.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859671.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859671.1:p.Arg7714_Ile8308delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559760"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004183.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859672.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859672.1:p.Arg7714_Ile8277delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559761"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004184.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859673.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859673.1:p.Arg7714_Ile8277delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23330,
          "referenceAllele": "C",
          "start": 23329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "XM_017004185.1:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859674.1:p.Arg7714Ter",
        "hgvsWellDefined": "XP_016859674.1:p.Arg7714_Ile8184delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559763"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 8213,
          "endIntronDirection": "-",
          "endIntronOffset": 20251,
          "referenceAllele": "G",
          "start": 8213,
          "startIntronDirection": "-",
          "startIntronOffset": 20252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN023207",
      "geneNCBI_id": 55183,
      "geneSymbol": "RIF1",
      "hgvs": [
        "XR_001738817.2:n.8214-20252G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589267"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916004416",
      "coordinates": [
        {
          "allele": "T",
          "end": 23437,
          "referenceAllele": "C",
          "start": 23436
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001271208.2:c.23245C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001258137.2:p.Arg7749Ter",
        "hgvsWellDefined": "NP_001258137.2:p.Arg7749_Ile8560delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS664134"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829544767",
      "coordinates": [
        {
          "allele": "T",
          "end": 18229,
          "referenceAllele": "C",
          "start": 18228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_004543.5:c.18037C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004534.3:p.Arg6013Ter",
        "hgvsWellDefined": "NP_004534.3:p.Arg6013_Ile6669delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696177"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825986473",
      "coordinates": [
        {
          "allele": "T",
          "end": 23332,
          "referenceAllele": "C",
          "start": 23331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001164507.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157979.2:p.Arg7714Ter",
        "hgvsWellDefined": "NP_001157979.2:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713104",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000427231.7:c.23140C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164507.2:c.23140C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000416578.2:p.Arg7714Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001157979.2:p.Arg7714Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825993427",
      "coordinates": [
        {
          "allele": "T",
          "end": 23332,
          "referenceAllele": "C",
          "start": 23331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007720",
      "geneNCBI_id": 4703,
      "geneSymbol": "NEB",
      "hgvs": [
        "NM_001164508.2:c.23140C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001157980.2:p.Arg7714Ter",
        "hgvsWellDefined": "NP_001157980.2:p.Arg7714_Ile8525delinsAspLeuGluLeuGluValLysGlyArgGlyLeuAsnAlaMetAlaAsnGluThrProAspPheMetArgAlaArgAsnAlaThrAspIleAlaSerGlnIleLysTyrLysGlnSerAlaGluMetGluLysAlaAsnPheThrSerValValAspThrProGluIleIleHisAlaGlnGlnValLysAsnLeuSerSerGlnLysLysTyrLysGluAspAlaGluLysSerMetSerTyrTyrGluThrValLeuAspThrProGluIleGlnArgValArgGluAsnGlnLysAsnPheSerLeuLeuGlnTyrGlnCysAspLeuLysAsnSerLysGlyLysIleThrValValGlnAspThrProGluIleLeuArgValLysGluAsnGlnLysAsnPheSerSerValLeuTyrLysGluAspValSerProGlyThrAlaIleGlyLysThrProGluMetMetArgValLysGlnThrGlnAspHisIleSerSerValLysTyrLysGluAlaIleGlyGlnGlyThrProIleProAspLeuProGluValLysArgValLysGluThrGlnLysHisIleSerSerValMetTyrLysGluAsnLeuGlyThrGlyIleProThrThrValThrProGluIleGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyLysGlyIleProThrProIleThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerIleLeuTyrLysGluAsnLeuSerLysGlyThrProLeuProValThrProGluMetGluArgValLysLeuAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnValGlyLysGlyIleProIleProIleThrProGluMetGluArgValLysHisAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnLeuGlyThrGlyIleProIleProIleThrProGluMetGlnArgValLysHisAsnGlnGluAsnLeuSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuProValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnMetGlyLysGlyThrProLeuAlaValThrProGluMetGluArgValLysHisAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnValGlyLysAlaThrAlaThrProValThrProGluMetGlnArgValLysArgAsnGlnGluAsnIleSerSerValLeuTyrLysGluAsnLeuGlyLysAlaThrProThrProPheThrProGluMetGluArgValLysArgAsnGlnGluAsnPheSerSerValLeuTyrLysGluAsnMetArgLysAlaThrProThrProValThrProGluMetGluArgAlaLysArgAsnGlnGluAsnIleSerSerValLeuTyrSerAspSerPheArgLysGlnIleGlnGlyLysAlaAlaTyrValLeuAspThrProGluMetArgArgValArgGluThrGlnArgHisIleSerThrValLysTyrHisGluAspPheGluLysHisLysGlyCysPheThrProValValThrAspProIleThrGluArgValLysLysAsnMetGlnAspPheSerAspIleAsnTyrArgGlyIleGlnArgLysValValGluMetGluGlnLysArgAsnAspGlnAspGlnGluThrIleThrGlyLeuArgValTrpArgThrAsnProGlySerValPheAspTyrAspProAlaGluAspAsnIleGlnSerArgSerLeuHisMetIleAsnValGlnAlaGlnArgArgSerArgGluGlnSerArgSerAlaSerAlaLeuSerIleSerGlyGlyGluGluLysSerGluHisSerGluAlaProAspHisHisLeuSerThrTyrSerAspGlyGlyValPheAlaValSerThrAlaTyrLysHisAlaLysThrThrGluLeuProGlnGlnArgSerSerSerValAlaThrGlnGlnThrThrValSerSerIleProSerHisProSerThrAlaGlyLysIlePheArgAlaMetTyrAspTyrMetAlaAlaAspAlaAspGluValSerPheLysAspGlyAspAlaIleIleAsnValGlnAlaIleAspGluGlyTrpMetTyrGlyThrValGlnArgThrGlyArgThrGlyMetLeuProAlaAsnTyrValGluAlaIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713105",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000397345.8:c.23140C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001164508.2:c.23140C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000380505.3:p.Arg7714Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001157980.2:p.Arg7714Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}