{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA8863484",
  "communityStandardTitle": [
    "NM_005993.5(TBCD):c.3281+17G>A"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSN8866542"
      },
      {
        "active": false,
        "id": "COSN26730138"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1158222[alleleid]",
        "alleleId": 1158222,
        "preferredName": "NM_005993.5(TBCD):c.3281+17G>A"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1170179",
        "RCV": [
          "RCV001522289",
          "RCV001815581"
        ],
        "variationId": 1170179
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/17-80895253-G-A",
        "id": "17-80895253-G-A",
        "variant": "17:80895253 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80895253G>A?assembly=hg19",
        "id": "chr17:g.80895253G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.82937377G>A?assembly=hg38",
        "id": "chr17:g.82937377G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/8079398",
        "rs": 8079398
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-80895253-G-A?dataset=gnomad_r2_1",
        "id": "17-80895253-G-A",
        "variant": "17:80895253 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-82937377-G-A?dataset=gnomad_r3",
        "id": "17-82937377-G-A",
        "variant": "17:82937377 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-82937377-G-A?dataset=gnomad_r4",
        "id": "17-82937377-G-A",
        "variant": "17:82937377 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 82937377,
          "referenceAllele": "G",
          "start": 82937376
        }
      ],
      "hgvs": [
        "NC_000017.11:g.82937377G>A",
        "CM000679.2:g.82937377G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 80895253,
          "referenceAllele": "G",
          "start": 80895252
        }
      ],
      "hgvs": [
        "NC_000017.10:g.80895253G>A",
        "CM000679.1:g.80895253G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "A",
          "end": 78488542,
          "referenceAllele": "G",
          "start": 78488541
        }
      ],
      "hgvs": [
        "NC_000017.9:g.78488542G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 190314,
          "referenceAllele": "G",
          "start": 190313
        }
      ],
      "hgvs": [
        "NG_011721.1:g.190314G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001926"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2609,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2609,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000574886.2:n.2609+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826180"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3431,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3431,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000576677.6:n.3431+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826188"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4438,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 4438,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000681983.1:n.4438+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS826983"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2178,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2178,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682099.1:n.2178+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827096"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3199,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3199,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682213.1:c.*1252+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508166.1:n.*1252+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827209"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1677,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1677,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682315.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507232.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3523,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3523,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682479.1:c.3371+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508214.1:n.3371+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827469"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2521,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2521,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682610.1:n.2521+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827599"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2440,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2440,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682654.1:c.*1252+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507412.1:n.*1252+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827643"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3376,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000682722.1:c.3230+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508364.1:n.3230+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3340,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3340,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683041.1:c.*1252+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506994.1:n.*1252+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828028"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3315,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3315,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683184.1:c.*2934+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507757.1:n.*2934+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828167"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3329,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3329,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683282.1:c.3197+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506913.1:n.3197+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3530,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3530,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683444.1:c.*2858+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507553.1:n.*2858+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828421"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2104,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2104,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683584.1:n.2104+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828557"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2185,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2185,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683821.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507651.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2735,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2735,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000683839.1:n.2735+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828807"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3365,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3365,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684000.1:c.3365+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506795.1:n.3365+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3277,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3277,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684188.1:c.3092+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507153.1:n.3092+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829146"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3587,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3587,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684349.1:c.3467+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508067.1:n.3467+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3911,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3911,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684361.1:c.*638+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507364.1:n.*638+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3054,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3054,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684408.1:c.2924+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506837.1:n.2924+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829363"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3433,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3433,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684429.1:c.3209+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507224.1:n.3209+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829383"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3517,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3517,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684464.1:c.3374+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508333.1:n.3374+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829418"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3337,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3337,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684544.1:c.3200+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507337.1:n.3200+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829497"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2036,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2036,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684559.1:n.2036+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829512"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3668,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3668,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684760.1:c.3548+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507696.1:n.3548+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829710"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3231,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3231,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000684776.1:c.*1764+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507861.1:n.*1764+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3410,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3410,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000355528.9:c.3281+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347719.4:n.3281+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748682",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355528.9:c.3281+17G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005993.5:c.3281+17G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347719.4:n.3281+17G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005984.3:n.3281+17G>A"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3411,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3411,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000355528.8:c.3281+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347719.4:n.3281+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263463"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3317,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3317,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000539345.6:c.3281+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000440671.2:n.3281+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361814"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 156,
          "referenceAllele": "G",
          "start": 155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000573364.1:n.156G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383263"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 474,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 474,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000575132.5:n.474+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS383988"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 145,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 145,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000576432.5:n.145+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 359,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000576603.5:n.359+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1387,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1387,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000576677.5:n.1387+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS384565"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 485,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 485,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "ENST00000577051.1:c.485+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458512.1:n.485+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384704"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3411,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3411,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "NM_005993.4:c.3281+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005984.3:n.3281+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031039"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3364,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3364,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256396.3:c.3230+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256453.1:n.3230+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061299"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2204,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2204,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256399.3:c.1997+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256456.1:n.1997+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061300"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2043,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2043,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256400.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256457.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061301"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2046,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2046,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256401.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256458.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061302"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2014,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256402.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256459.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2272,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2272,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256403.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256460.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1989,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1989,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256404.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256461.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061305"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3308,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3308,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_006722290.2:c.3200+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722353.1:n.3200+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2069,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2069,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_006722291.2:c.1985+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722354.1:n.1985+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1944,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1944,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_006722292.2:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722355.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074506"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2951,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523589.1:c.2936+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521891.1:n.2936+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3032,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3032,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523590.1:c.2924+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521892.1:n.2924+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090723"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2936,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2936,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523591.1:c.2921+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521893.1:n.2921+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090724"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2849,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2849,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523592.1:c.2834+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521894.1:n.2834+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090725"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523593.1:c.2528+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521895.1:n.2528+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090726"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2013,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523594.1:c.2009+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521896.1:n.2009+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2033,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2033,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523595.1:c.1976+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521897.1:n.1976+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1877,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1877,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523597.1:c.1742+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521899.1:n.1742+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1802,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1802,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523598.1:c.1739+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521900.1:n.1739+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2080,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2080,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523599.1:c.1733+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521901.1:n.1733+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1884,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1884,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523600.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521902.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3389,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3389,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XR_430033.2:n.3389+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118569"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3376,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3376,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256396.4:c.3230+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256453.1:n.3230+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534474"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2208,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2208,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256399.5:c.1997+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256456.1:n.1997+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2250,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2250,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_005256404.4:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256461.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534476"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2532,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2532,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_006722291.4:c.1985+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722354.1:n.1985+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540509"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1943,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1943,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_006722292.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006722355.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540510"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2951,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2951,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523589.2:c.2936+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521891.1:n.2936+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547087"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2936,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2936,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523591.2:c.2921+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521893.1:n.2921+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547088"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2543,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2543,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523593.2:c.2528+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521895.1:n.2528+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547089"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2013,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2013,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523594.2:c.2009+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521896.1:n.2009+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547090"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2091,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2091,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523595.3:c.1976+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521897.1:n.1976+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547091"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2744,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2744,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523597.2:c.1742+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521899.1:n.1742+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547092"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2520,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2520,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523599.2:c.1733+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521901.1:n.1733+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547093"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1965,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1965,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_011523600.3:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521902.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547094"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3272,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3272,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_017024987.1:c.3092+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880476.1:n.3092+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575417"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1658,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 1658,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_017024989.1:c.1643+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880478.1:n.1643+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2036,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2036,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_017024990.2:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016880479.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS575420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2135,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2135,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_024450899.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306667.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584428"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2065,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2065,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_024450900.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306668.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584429"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2185,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2185,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_024450901.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306669.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584430"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2014,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 2014,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XM_024450902.1:c.1595+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306670.1:n.1595+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584431"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3509,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3509,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XR_001752597.1:n.3509+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3767,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3767,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XR_001752598.1:n.3767+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599280"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3887,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3887,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XR_001752599.1:n.3887+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599281"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4328,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 4328,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "XR_001752600.1:n.4328+17G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS599282"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3410,
          "endIntronDirection": "+",
          "endIntronOffset": 17,
          "referenceAllele": "G",
          "start": 3410,
          "startIntronDirection": "+",
          "startIntronOffset": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011581",
      "geneNCBI_id": 6904,
      "geneSymbol": "TBCD",
      "hgvs": [
        "NM_005993.5:c.3281+17G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_005984.3:n.3281+17G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS667241",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355528.9:c.3281+17G>A"
          },
          "RefSeq": {
            "hgvs": "NM_005993.5:c.3281+17G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347719.4:n.3281+17G>A"
          },
          "RefSeq": {
            "hgvs": "NP_005984.3:n.3281+17G>A"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}