{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA042365",
  "communityStandardTitle": [
    "NM_000548.5(TSC2):c.2838-6C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=222451[alleleid]",
        "alleleId": 222451,
        "preferredName": "NM_000548.5(TSC2):c.2838-6C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/221121",
        "RCV": [
          "RCV000205443",
          "RCV000372271"
        ],
        "variationId": 221121
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/16-2127593-C-T",
        "id": "16-2127593-C-T",
        "variant": "16:2127593 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2127593C>T?assembly=hg19",
        "id": "chr16:g.2127593C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2077592C>T?assembly=hg38",
        "id": "chr16:g.2077592C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/528706539",
        "rs": 528706539
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2127593-C-T?dataset=gnomad_r2_1",
        "id": "16-2127593-C-T",
        "variant": "16:2127593 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2077592-C-T?dataset=gnomad_r3",
        "id": "16-2077592-C-T",
        "variant": "16:2077592 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-2077592-C-T?dataset=gnomad_r4",
        "id": "16-2077592-C-T",
        "variant": "16:2077592 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2077592,
          "referenceAllele": "C",
          "start": 2077591
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2077592C>T",
        "CM000678.2:g.2077592C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2127593,
          "referenceAllele": "C",
          "start": 2127592
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2127593C>T",
        "CM000678.1:g.2127593C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "T",
          "end": 2067594,
          "referenceAllele": "C",
          "start": 2067593
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2067594C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33287,
          "referenceAllele": "C",
          "start": 33286
        }
      ],
      "hgvs": [
        "NG_005895.1:g.33287C>T",
        "LRG_487:g.33287C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000437"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2866,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2866,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568566.6:c.*1384+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000455997.2:n.*1384+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2998,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2998,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642206.2:c.2882+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495146.2:n.2882+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2908,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2908,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.2:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495459.2:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3936,
          "referenceAllele": "C",
          "start": 3935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644417.2:c.*3281C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493912.2:n.*3281C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914414"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4229,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 4229,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646464.2:c.*3891+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496610.2:n.*3891+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.9:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740437",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2838-6C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2838-6C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:n.2838-6C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:n.2838-6C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2912,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.9:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748446"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2943,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2943,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.7:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS753982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 197,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 197,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000471143.6:c.197+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458541.2:n.197+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568366.6:n.189C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS760547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2938,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2938,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.6:c.2870+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:n.2870+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1494,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 1494,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642365.1:c.1495-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766702"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2889,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2889,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642561.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495099.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2891,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2891,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642797.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493846.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2946,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2946,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000642936.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494514.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766999"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2955,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2955,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643088.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494747.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767083"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2955,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2955,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000643946.1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495927.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2891,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2891,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644043.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496262.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2899,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2899,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644329.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496611.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2937,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2937,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644335.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496317.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2830,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2830,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000644399.1:c.2831-6C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1119,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 1119,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000645024.1:n.1119+1007C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768127"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2923,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2923,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646388.1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495921.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768845"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 1850,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000646634.1:n.1850+1007C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS768983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3467,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3467,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000219476.7:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000219476.3:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247369"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2912,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2912,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000350773.8:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344383.4:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2785,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2785,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000382538.10:c.2690+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000371978.6:n.2690+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247352"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2943,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2943,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000401874.6:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384468.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2525,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2525,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439117.6:c.*2136+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406980.2:n.*2136+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS295266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2807,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2807,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000439673.6:c.2726+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399232.2:n.2726+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 195,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 195,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000471143.5:c.195+1007C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS313409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 206,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 206,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000483020.5:c.206+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460310.1:n.206+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS322585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 189,
          "referenceAllele": "C",
          "start": 188
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568366.5:n.189C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2938,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2938,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "ENST00000568454.5:c.2870+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000454487.1:n.2870+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2943,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2943,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.3:c.2838-6C>T",
        "LRG_487t1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2943,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2943,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009932"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2943,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2943,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255529.3:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255586.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.3:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089783"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2885,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2885,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.1:c.2727-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.1:n.2727-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2885,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2885,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522641.1:c.2726+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520943.1:n.2726+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3037,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.4:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 3037,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.2:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511206"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3037,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.2:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511373"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2926,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2926,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.1:c.2726+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:n.2726+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2870,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2870,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.1:c.2690+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:n.2690+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2663,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2663,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.1:c.2237+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:n.2237+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2938,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2938,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.1:c.2870+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:n.2870+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS513067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 3037,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523355"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.2:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_005255531.4:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255588.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522636.2:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520938.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522637.2:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520939.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3017,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3017,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522638.2:c.3000-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520940.2:n.3000-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546690"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522639.2:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520941.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546691"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_011522640.2:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520942.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546692"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023615.1:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879104.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023616.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879105.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574349"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3017,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 3017,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023617.1:c.2999+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879106.1:n.2999+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3011,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 3011,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_017023618.1:c.1494-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016879107.1:n.1494-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574351"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2924,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2924,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "XM_024450413.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306181.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583950"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_000548.5:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000539.2:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662483",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000219476.9:c.2838-6C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000548.5:c.2838-6C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000219476.3:n.2838-6C>T"
          },
          "RefSeq": {
            "hgvs": "NP_000539.2:n.2838-6C>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370404.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357333.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001370405.1:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357334.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692409"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001077183.3:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070651.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "-",
          "endIntronOffset": 5,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "-",
          "startIntronOffset": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001114382.3:c.2838-6C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001107854.1:n.2838-6C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2836,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2836,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318827.2:c.2726+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305756.1:n.2726+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717605"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2780,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2780,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318829.2:c.2690+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305758.1:n.2690+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717607"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2573,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2573,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318831.2:c.2237+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305760.1:n.2237+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2938,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2938,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001318832.2:c.2870+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001305761.1:n.2870+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS717610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_001363528.2:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350457.1:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720739"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2947,
          "endIntronDirection": "+",
          "endIntronOffset": 1007,
          "referenceAllele": "C",
          "start": 2947,
          "startIntronDirection": "+",
          "startIntronOffset": 1006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012363",
      "geneNCBI_id": 7249,
      "geneSymbol": "TSC2",
      "hgvs": [
        "NM_021055.3:c.2837+1007C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066399.2:n.2837+1007C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728502"
    }
  ],
  "type": "nucleotide"
}