{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA004617",
  "communityStandardTitle": [
    "NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=57920[alleleid]",
        "alleleId": 57920,
        "preferredName": "NM_000368.5(TSC1):c.1303C>T (p.Gln435Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/48758",
        "RCV": [
          "RCV000042005"
        ],
        "variationId": 48758
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.135782718G>A?assembly=hg19",
        "id": "chr9:g.135782718G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.132907331G>A?assembly=hg38",
        "id": "chr9:g.132907331G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118203511",
        "rs": 118203511
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 132907331,
          "referenceAllele": "G",
          "start": 132907330
        }
      ],
      "hgvs": [
        "NC_000009.12:g.132907331G>A",
        "CM000671.2:g.132907331G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 135782718,
          "referenceAllele": "G",
          "start": 135782717
        }
      ],
      "hgvs": [
        "NC_000009.11:g.135782718G>A",
        "CM000671.1:g.135782718G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 134772539,
          "referenceAllele": "G",
          "start": 134772538
        }
      ],
      "hgvs": [
        "NC_000009.10:g.134772539G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 42303,
          "referenceAllele": "C",
          "start": 42302
        }
      ],
      "hgvs": [
        "NG_012386.1:g.42303C>T",
        "LRG_486:g.42303C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002390"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1457,
          "referenceAllele": "C",
          "start": 1456
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000475903.7:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496126.2:p.Gln434Ter",
        "hgvsWellDefined": "ENSP00000496126.2:p.Gln434_Ser1163delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1612,
          "referenceAllele": "C",
          "start": 1611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000490179.4:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495533.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000495533.2:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914163"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642261.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494743.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000494743.2:p.Gln435_Ser738delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643275.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495598.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000495598.2:p.Gln435_Arg671delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuSerSerPheArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643362.2:c.916C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000496398.2:p.Gln306Ter",
        "hgvsWellDefined": "ENSP00000496398.2:p.Gln306_Ser1035delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "C",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643625.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495546.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000495546.2:p.Gln435_Gly696delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGluArgSerValGluValThrArgGluGlyHisProAspValGluGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914410"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000643691.2:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494916.2:p.Gln314Ter",
        "hgvsWellDefined": "ENSP00000494916.2:p.Gln314_Ser1043delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914411"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000644184.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495428.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000495428.2:p.Gln435_Ser1150delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914412"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1352,
          "referenceAllele": "C",
          "start": 1351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000645129.2:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493639.2:p.Gln383Ter",
        "hgvsWellDefined": "ENSP00000493639.2:p.Gln383_Ser1112delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000646440.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495830.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000495830.2:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.9:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000298552.3:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744603",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.1303C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.1303C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Gln435Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Gln435Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1601,
          "referenceAllele": "C",
          "start": 1600
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642344.1:c.*1044C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494847.1:n.*1044C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1524,
          "referenceAllele": "C",
          "start": 1523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642617.1:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493773.1:p.Gln434Ter",
        "hgvsWellDefined": "ENSP00000493773.1:p.Gln434_Ser1163delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642627.1:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496772.1:p.Gln434Ter",
        "hgvsWellDefined": "ENSP00000496772.1:p.Gln434_Ser1158delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766846"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000642811.1:c.*1073C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495554.1:n.*1073C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766935"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS767076"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1175,
          "referenceAllele": "C",
          "start": 1174
        }
      ],
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        "hgvsWellDefined": "ENSP00000496398.1:p.Gln306_Lys346del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767241"
    },
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      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 1518
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767358"
    },
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        {
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          "referenceAllele": "C",
          "start": 1516
        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767519"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
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      "referenceSequence": "http://reg.genome.network/refseq/RS767631"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 40,
          "referenceAllele": "C",
          "start": 39
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS767683"
    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS767724"
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      "referenceSequence": "http://reg.genome.network/refseq/RS767758"
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      "referenceSequence": "http://reg.genome.network/refseq/RS768597"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS768848"
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        {
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      "proteinEffect": {
        "hgvs": "ENSP00000496263.1:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000496263.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1438,
          "referenceAllele": "C",
          "start": 1437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647279.1:c.*542C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494502.1:n.*542C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2179,
          "referenceAllele": "C",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647506.1:n.2179C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000647534.1:n.367C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS769469"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1525,
          "referenceAllele": "C",
          "start": 1524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000298552.7:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000298552.3:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000298552.3:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1386,
          "referenceAllele": "C",
          "start": 1385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000440111.6:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394524.2:p.Gln435Ter",
        "hgvsWellDefined": "ENSP00000394524.2:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "ENST00000545250.5:c.1150C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444017.1:p.Gln384Ter",
        "hgvsWellDefined": "ENSP00000444017.1:p.Gln384_Ser1113delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247297"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.4:c.1303C>T",
        "LRG_486t1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Gln435Ter",
        "hgvsWellDefined": "NP_000359.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006430"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825917684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.1:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Gln434Ter",
        "hgvsWellDefined": "NP_001155898.1:p.Gln434_Ser1163delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014316"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955861",
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "referenceAllele": "C",
          "start": 1383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.1:c.1150C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Gln384Ter",
        "hgvsWellDefined": "NP_001155899.1:p.Gln384_Ser1113delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1582,
          "referenceAllele": "C",
          "start": 1581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_005272211.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272268.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_005272268.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067177"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717271.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717334.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_006717334.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072084"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1537,
          "referenceAllele": "C",
          "start": 1536
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_006717272.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717335.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_006717335.1:p.Gln435_Phe667delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072085"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1632,
          "referenceAllele": "C",
          "start": 1631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_011517281.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086153"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059704",
      "coordinates": [
        {
          "allele": "T",
          "end": 1433,
          "referenceAllele": "C",
          "start": 1432
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.1:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Gln314Ter",
        "hgvsWellDefined": "NP_001349106.1:p.Gln314_Ser1043delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1531,
          "referenceAllele": "C",
          "start": 1530
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_011518979.2:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517281.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_011517281.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1996,
          "referenceAllele": "C",
          "start": 1995
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015096.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870585.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_016870585.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015097.1:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870586.1:p.Gln435Ter",
        "hgvsWellDefined": "XP_016870586.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567918"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015098.1:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870587.1:p.Gln434Ter",
        "hgvsWellDefined": "XP_016870587.1:p.Gln434_Ser1163delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567919"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1646,
          "referenceAllele": "C",
          "start": 1645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015100.1:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870589.1:p.Gln314Ter",
        "hgvsWellDefined": "XP_016870589.1:p.Gln314_Ser1043delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567920"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "XM_017015101.1:c.937C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870590.1:p.Gln313Ter",
        "hgvsWellDefined": "XP_016870590.1:p.Gln313_Ser1042delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567921"
    },
    {
      "@id": "http://reg.genome.network/allele/PA262152",
      "coordinates": [
        {
          "allele": "T",
          "end": 1520,
          "referenceAllele": "C",
          "start": 1519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_000368.5:c.1303C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000359.1:p.Gln435Ter",
        "hgvsWellDefined": "NP_000359.1:p.Gln435_Ser1164delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674813",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000298552.9:c.1303C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000368.5:c.1303C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000298552.3:p.Gln435Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000359.1:p.Gln435Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825917684",
      "coordinates": [
        {
          "allele": "T",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162426.2:c.1300C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155898.1:p.Gln434Ter",
        "hgvsWellDefined": "NP_001155898.1:p.Gln434_Ser1163delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825955861",
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001162427.2:c.1150C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001155899.1:p.Gln384Ter",
        "hgvsWellDefined": "NP_001155899.1:p.Gln384_Ser1113delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828059704",
      "coordinates": [
        {
          "allele": "T",
          "end": 1416,
          "referenceAllele": "C",
          "start": 1415
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012362",
      "geneNCBI_id": 7248,
      "geneSymbol": "TSC1",
      "hgvs": [
        "NM_001362177.2:c.940C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001349106.1:p.Gln314Ter",
        "hgvsWellDefined": "NP_001349106.1:p.Gln314_Ser1043delinsHisHisLeuLeuAsnAspArgGlySerGluGluProProGlySerLysGlySerValThrLeuSerAspLeuProGlyPheLeuGlyAspLeuAlaSerGluGluAspSerIleGluLysAspLysGluGluAlaAlaIleSerArgGluLeuSerGluIleThrThrAlaGluAlaGluProValValProArgGlyGlyPheAspSerProPheTyrArgAspSerLeuProGlySerGlnArgLysThrHisSerAlaAlaSerSerSerGlnGlyAlaSerValAsnProGluProLeuHisSerSerLeuAspLysLeuGlyProAspThrProLysGlnAlaPheThrProIleAspLeuProCysGlySerAlaAspGluSerProAlaGlyAspArgGluCysGlnThrSerLeuGluThrSerIlePheThrProSerProCysLysIleProProProThrArgValGlyPheGlySerGlyGlnProProProTyrAspHisLeuPheGluValAlaLeuProLysThrAlaHisHisPheValIleArgLysThrGluGluLeuLeuLysLysAlaLysGlyAsnThrGluGluAspGlyValProSerThrSerProMetGluValLeuAspArgLeuIleGlnGlnGlyAlaAspAlaHisSerLysGluLeuAsnLysLeuProLeuProSerLysSerValAspTrpThrHisPheGlyGlySerProProSerAspGluIleArgThrLeuArgAspGlnLeuLeuLeuLeuHisAsnGlnLeuLeuTyrGluArgPheLysArgGlnGlnHisAlaLeuArgAsnArgArgLeuLeuArgLysValIleLysAlaAlaAlaLeuGluGluHisAsnAlaAlaMetLysAspGlnLeuLysLeuGlnGluLysAspIleGlnMetTrpLysValSerLeuGlnLysGluGlnAlaArgTyrAsnGlnLeuGlnGluGlnArgAspThrMetValThrLysLeuHisSerGlnIleArgGlnLeuGlnHisAspArgGluGluPheTyrAsnGlnSerGlnGluLeuGlnThrLysLeuGluAspCysArgAsnMetIleAlaGluLeuArgIleGluLeuLysLysAlaAsnAsnLysValCysHisThrGluLeuLeuLeuSerGlnValSerGlnLysLeuSerAsnSerGluSerValGlnGlnGlnMetGluPheLeuAsnArgGlnLeuLeuValLeuGlyGluValAsnGluLeuTyrLeuGluGlnLeuGlnAsnLysHisSerAspThrThrLysGluValGluMetMetLysAlaAlaTyrArgLysGluLeuGluLysAsnArgSerHisValLeuGlnGlnThrGlnArgLeuAspThrSerGlnLysArgIleLeuGluLeuGluSerHisLeuAlaLysLysAspHisLeuLeuLeuGluGlnLysLysTyrLeuGluAspValLysLeuGlnAlaArgGlyGlnLeuGlnAlaAlaGluSerArgTyrGluAlaGlnLysArgIleThrGlnValPheGluLeuGluIleLeuAspLeuTyrGlyArgLeuGluLysAspGlyLeuLeuLysLysLeuGluGluGluLysAlaGluAlaAlaGluAlaAlaGluGluArgLeuAspCysCysAsnAspGlyCysSerAspSerMetValGlyHisAsnGluGluAlaSerGlyHisAsnGlyGluThrLysThrProArgProSerSerAlaArgGlySerSerGlySerArgGlyGlyGlyGlySerSerSerSerSerSerGluLeuSerThrProGluLysProProHisGlnArgAlaGlyProPheSerSerArgTrpGluThrThrMetGlyGluAlaSerAlaSerIleProThrThrValGlySerLeuProSerSerLysSerPheLeuGlyMetLysAlaArgGluLeuPheArgAsnLysSerGluSerGlnCysAspGluAspGlyMetThrSerSerLeuSerGluSerLeuLysThrGluLeuGlyLysAspLeuGlyValGluAlaLysIleProLeuAsnLeuAspGlyProHisProSerProProThrProAspSerValGlyGlnLeuHisIleMetAspTyrAsnGluThrHisHisGluHisSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690502"
    }
  ],
  "type": "nucleotide"
}