{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16041238",
  "communityStandardTitle": [
    "NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=357705[alleleid]",
        "alleleId": 357705,
        "preferredName": "NM_152564.5(VPS13B):c.5515C>T (p.Gln1839Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/370619",
        "RCV": [
          "RCV000412236",
          "RCV003325481"
        ],
        "variationId": 370619
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.100654333C>T?assembly=hg19",
        "id": "chr8:g.100654333C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.99642105C>T?assembly=hg38",
        "id": "chr8:g.99642105C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057516633",
        "rs": 1057516633
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-100654333-C-T?dataset=gnomad_r2_1",
        "id": "8-100654333-C-T",
        "variant": "8:100654333 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-99642105-C-T?dataset=gnomad_r4",
        "id": "8-99642105-C-T",
        "variant": "8:99642105 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 99642105,
          "referenceAllele": "C",
          "start": 99642104
        }
      ],
      "hgvs": [
        "NC_000008.11:g.99642105C>T",
        "CM000670.2:g.99642105C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 100654333,
          "referenceAllele": "C",
          "start": 100654332
        }
      ],
      "hgvs": [
        "NC_000008.10:g.100654333C>T",
        "CM000670.1:g.100654333C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 100723509,
          "referenceAllele": "C",
          "start": 100723508
        }
      ],
      "hgvs": [
        "NC_000008.9:g.100723509C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 633840,
          "referenceAllele": "C",
          "start": 633839
        }
      ],
      "hgvs": [
        "NG_007098.2:g.633840C>T",
        "LRG_351:g.633840C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5660,
          "referenceAllele": "C",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000682153.1:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507923.1:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827150"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5660,
          "referenceAllele": "C",
          "start": 5659
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000682358.1:n.5660C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827350"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5556,
          "referenceAllele": "C",
          "start": 5555
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000683334.1:c.*1272C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507369.1:n.*1272C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5618,
          "referenceAllele": "C",
          "start": 5617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000357162.7:c.5515C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349685.2:p.Gln1839Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.5515C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.5515C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Gln1839Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Gln1839Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5693,
          "referenceAllele": "C",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000358544.7:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351346.2:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.5590C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.5590C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:p.Gln1864Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:p.Gln1864Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5626,
          "referenceAllele": "C",
          "start": 5625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000357162.6:c.5515C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349685.2:p.Gln1839Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5701,
          "referenceAllele": "C",
          "start": 5700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000358544.6:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351346.2:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5701,
          "referenceAllele": "C",
          "start": 5700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.4:c.5590C>T",
        "LRG_351t1:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035281"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5626,
          "referenceAllele": "C",
          "start": 5625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.4:c.5515C>T",
        "LRG_351t2:c.5515C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Gln1839Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6007,
          "referenceAllele": "C",
          "start": 6006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250800.2:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250857.1:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059322"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5820,
          "referenceAllele": "C",
          "start": 5819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250801.3:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250858.1:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5690,
          "referenceAllele": "C",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516848.1:c.5587C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515150.1:p.Gln1863Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084047"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5615,
          "referenceAllele": "C",
          "start": 5614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516849.1:c.5512C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515151.1:p.Gln1838Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084048"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5322,
          "referenceAllele": "C",
          "start": 5321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516850.1:c.5212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515152.1:p.Gln1738Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084049"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2606,
          "referenceAllele": "C",
          "start": 2605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516851.1:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515153.1:p.Gln826Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2582,
          "referenceAllele": "C",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516852.1:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515154.1:p.Gln826Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5693,
          "referenceAllele": "C",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516853.1:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515155.1:p.Gln1864Ter",
        "hgvsWellDefined": "XP_011515155.1:p.Gln1864_Met2725delinsLysAsnAsnGluLysThrAspLysSerSerLeuAsnLeuProGluValAspSerAspValAlaLysProAsnGlnAlaCysIleSerThrValThrAlaGluAspLeuLeuArgSerSerIleSerPheProSerGlyLysLysIleGlyValLeuSerLeuGluSerLeuHisAlaSerThrArgSerSerAlaArgGlnAlaLeuGlyIleThrIleValArgGlnProGlyArgArgGlyThrGlyAspLeuGlnLeuGluProPheLeuTyrPheIleValSerGlnProSerLeuLeuLeuSerCysHisHisArgLysGlnArgValGluValSerIlePheAspAlaValLeuLysGlyValAlaSerAspTyrLysCysIleAspProGlyLysThrLeuProGluAlaLeuAspTyrCysThrValTrpLeuGlnThrValProGlyGluIleAspSerLysSerGlyIleProProSerPheIleThrLeuGlnIleLysAspPheLeuAsnGlyProAlaAspValAsnLeuAspIleSerLysProLeuLysAlaAsnLeuSerPheThrLysLeuAspGlnIleAsnLeuPheLeuLysLysIleLysAsnAlaHisSerLeuAlaHisSerGluGluThrSerAlaMetSerAsnThrMetValAsnLysAspAspLeuProValSerLysTyrTyrArgGlyLysLeuSerLysProLysIleHisGlyAspGlyValGlnLysIleSerAlaGlnGluAsnMetTrpArgAlaValSerCysPheGlnLysIleSerValGlnThrThrGlnIleValIleSerMetGluThrValProHisThrSerLysProCysLeuLeuAlaSerLeuSerAsnLeuAsnGlySerLeuSerValLysAlaThrGlnLysValProGlyIleIleLeuGlySerSerPheLeuLeuSerIleAsnAspPheLeuLeuLysThrSerLeuLysGluArgSerArgIleLeuIleGlyProCysCysAlaThrAlaAsnLeuGluAlaLysTrpCysLysHisSerGlyAsnProGlyProGluGlnSerIleProLysIleSerIleAspLeuArgGlyGlyLeuLeuGlnValPheTrpGlyGlnGluHisLeuAsnCysLeuValLeuLeuHisGluLeuLeuAsnGlyTyrLeuAsnGluGluGlyAsnPheGluValGlnValSerGluProValProGlnMetSerSerProValGluLysAsnGlnThrPheLysSerGluGlnSerSerAspAspLeuArgThrGlyLeuPheGlnTyrValGlnAspAlaGluSerLeuLysLeuProGlyValTyrGluValLeuPheTyrAsnGluThrGluAspCysProGlyMetMetLeuTrpArgTyrProGluProArgValLeuThrLeuValArgIleThrProValProPheAsnThrThrGluAspProAspIleSerThrAlaAspLeuGlyAspValLeuGlnValProCysSerLeuGluTyrTrpAspGluLeuGlnLysValPheValAlaPheArgGluPheAsnLeuSerGluSerLysValCysGluLeuGlnLeuProAspIleAsnLeuValAsnAspGlnLysLysLeuValSerSerAspLeuTrpArgIleValLeuAsnSerSerGlnAsnGlyAlaAspAspGlnSerSerAlaSerGluSerGlySerGlnSerThrCysAspProLeuValThrProThrAlaLeuAlaAlaCysThrArgValAspSerCysPheThrProTrpPheValProSerLeuCysValSerPheGlnPheAlaHisLeuGluPheHisLeuCysHisHisLeuAspGlnLeuGlyThrAlaAlaProGlnTyrLeuGlnProPheValSerAspArgAsnMetProSerGluLeuGluTyrMetIleValSerPheArgGluProHisMetTyrLeuArgGlnTrpAsnAsnGlySerValCysGlnGluIleGlnPheLeuAlaGlnAlaAspCysLysLeuLeuGluCysArgAsnValThrMetGlnSerValValLysProPheSerIlePheGlyGlnMetAlaValSerSerAspValValGluLysLeuLeuAspCysThrValIleValAspSerValPheValAsnLeuGlyGlnHisValValHisSerLeuAsnThrAlaIleGlnAlaTrpGlnGlnAsnLysCysProGluValGluGluLeuValPheSerHisPheValIleCysAsnAspThrGlnGluThrLeuArgPheGlyGlnValAspThrAspGluAsnIleLeuLeuAlaSerLeuHisSerHisGlnTyrSerTrpArgSerHisLysSerProGlnLeuLeuHisIleCysIleGluGlyTrpGlyAsnTrpArgTrpSerGluProPheSerValAspHisAlaGlyThrPheIleArgThrIleGlnTyrArgGlyArgThrAlaSerLeuIleIleLysValGlnGlnLeuAsnGlyValGlnLysGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084052"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.1:c.1369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:p.Gln457Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084053"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6007,
          "referenceAllele": "C",
          "start": 6006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250800.3:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250857.1:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533506"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5806,
          "referenceAllele": "C",
          "start": 5805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250801.5:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250858.1:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5690,
          "referenceAllele": "C",
          "start": 5689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516848.2:c.5587C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515150.1:p.Gln1863Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544313"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5615,
          "referenceAllele": "C",
          "start": 5614
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516849.2:c.5512C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515151.1:p.Gln1838Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544314"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5333,
          "referenceAllele": "C",
          "start": 5332
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516850.2:c.5212C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515152.1:p.Gln1738Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544315"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2593,
          "referenceAllele": "C",
          "start": 2592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516851.2:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515153.1:p.Gln826Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2631,
          "referenceAllele": "C",
          "start": 2630
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516852.2:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515154.1:p.Gln826Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5693,
          "referenceAllele": "C",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516853.2:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515155.1:p.Gln1864Ter",
        "hgvsWellDefined": "XP_011515155.1:p.Gln1864_Met2725delinsLysAsnAsnGluLysThrAspLysSerSerLeuAsnLeuProGluValAspSerAspValAlaLysProAsnGlnAlaCysIleSerThrValThrAlaGluAspLeuLeuArgSerSerIleSerPheProSerGlyLysLysIleGlyValLeuSerLeuGluSerLeuHisAlaSerThrArgSerSerAlaArgGlnAlaLeuGlyIleThrIleValArgGlnProGlyArgArgGlyThrGlyAspLeuGlnLeuGluProPheLeuTyrPheIleValSerGlnProSerLeuLeuLeuSerCysHisHisArgLysGlnArgValGluValSerIlePheAspAlaValLeuLysGlyValAlaSerAspTyrLysCysIleAspProGlyLysThrLeuProGluAlaLeuAspTyrCysThrValTrpLeuGlnThrValProGlyGluIleAspSerLysSerGlyIleProProSerPheIleThrLeuGlnIleLysAspPheLeuAsnGlyProAlaAspValAsnLeuAspIleSerLysProLeuLysAlaAsnLeuSerPheThrLysLeuAspGlnIleAsnLeuPheLeuLysLysIleLysAsnAlaHisSerLeuAlaHisSerGluGluThrSerAlaMetSerAsnThrMetValAsnLysAspAspLeuProValSerLysTyrTyrArgGlyLysLeuSerLysProLysIleHisGlyAspGlyValGlnLysIleSerAlaGlnGluAsnMetTrpArgAlaValSerCysPheGlnLysIleSerValGlnThrThrGlnIleValIleSerMetGluThrValProHisThrSerLysProCysLeuLeuAlaSerLeuSerAsnLeuAsnGlySerLeuSerValLysAlaThrGlnLysValProGlyIleIleLeuGlySerSerPheLeuLeuSerIleAsnAspPheLeuLeuLysThrSerLeuLysGluArgSerArgIleLeuIleGlyProCysCysAlaThrAlaAsnLeuGluAlaLysTrpCysLysHisSerGlyAsnProGlyProGluGlnSerIleProLysIleSerIleAspLeuArgGlyGlyLeuLeuGlnValPheTrpGlyGlnGluHisLeuAsnCysLeuValLeuLeuHisGluLeuLeuAsnGlyTyrLeuAsnGluGluGlyAsnPheGluValGlnValSerGluProValProGlnMetSerSerProValGluLysAsnGlnThrPheLysSerGluGlnSerSerAspAspLeuArgThrGlyLeuPheGlnTyrValGlnAspAlaGluSerLeuLysLeuProGlyValTyrGluValLeuPheTyrAsnGluThrGluAspCysProGlyMetMetLeuTrpArgTyrProGluProArgValLeuThrLeuValArgIleThrProValProPheAsnThrThrGluAspProAspIleSerThrAlaAspLeuGlyAspValLeuGlnValProCysSerLeuGluTyrTrpAspGluLeuGlnLysValPheValAlaPheArgGluPheAsnLeuSerGluSerLysValCysGluLeuGlnLeuProAspIleAsnLeuValAsnAspGlnLysLysLeuValSerSerAspLeuTrpArgIleValLeuAsnSerSerGlnAsnGlyAlaAspAspGlnSerSerAlaSerGluSerGlySerGlnSerThrCysAspProLeuValThrProThrAlaLeuAlaAlaCysThrArgValAspSerCysPheThrProTrpPheValProSerLeuCysValSerPheGlnPheAlaHisLeuGluPheHisLeuCysHisHisLeuAspGlnLeuGlyThrAlaAlaProGlnTyrLeuGlnProPheValSerAspArgAsnMetProSerGluLeuGluTyrMetIleValSerPheArgGluProHisMetTyrLeuArgGlnTrpAsnAsnGlySerValCysGlnGluIleGlnPheLeuAlaGlnAlaAspCysLysLeuLeuGluCysArgAsnValThrMetGlnSerValValLysProPheSerIlePheGlyGlnMetAlaValSerSerAspValValGluLysLeuLeuAspCysThrValIleValAspSerValPheValAsnLeuGlyGlnHisValValHisSerLeuAsnThrAlaIleGlnAlaTrpGlnGlnAsnLysCysProGluValGluGluLeuValPheSerHisPheValIleCysAsnAspThrGlnGluThrLeuArgPheGlyGlnValAspThrAspGluAsnIleLeuLeuAlaSerLeuHisSerHisGlnTyrSerTrpArgSerHisLysSerProGlnLeuLeuHisIleCysIleGluGlyTrpGlyAsnTrpArgTrpSerGluProPheSerValAspHisAlaGlyThrPheIleArgThrIleGlnTyrArgGlyArgThrAlaSerLeuIleIleLysValGlnGlnLeuAsnGlyValGlnLysGlnMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1789,
          "referenceAllele": "C",
          "start": 1788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.2:c.1369C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:p.Gln457Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5498,
          "referenceAllele": "C",
          "start": 5497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013109.1:c.5395C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868598.1:p.Gln1799Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566488"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2863,
          "referenceAllele": "C",
          "start": 2862
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013111.1:c.2476C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868600.1:p.Gln826Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566489"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2005,
          "referenceAllele": "C",
          "start": 2004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013112.1:c.1147C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868601.1:p.Gln383Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566490"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5772,
          "referenceAllele": "C",
          "start": 5771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_024447074.1:c.4375C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302842.1:p.Gln1459Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5551,
          "referenceAllele": "C",
          "start": 5550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XR_001745482.2:n.5551C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5693,
          "referenceAllele": "C",
          "start": 5692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.5:c.5590C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:p.Gln1864Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.5590C>T"
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.5590C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:p.Gln1864Ter"
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:p.Gln1864Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5618,
          "referenceAllele": "C",
          "start": 5617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.5:c.5515C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:p.Gln1839Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.5515C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.5515C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:p.Gln1839Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:p.Gln1839Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}