{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA371874664",
  "communityStandardTitle": [
    "NM_152564.5(VPS13B):c.7247+2T>C"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1453514",
        "active": true,
        "id": "COSM1453514"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1453515",
        "active": true,
        "id": "COSM1453515"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=562561[alleleid]",
        "alleleId": 562561,
        "preferredName": "NM_152564.5(VPS13B):c.7247+2T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/583375",
        "RCV": [
          "RCV000707693",
          "RCV002273824"
        ],
        "variationId": 583375
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.100779200T>C?assembly=hg19",
        "id": "chr8:g.100779200T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.99766972T>C?assembly=hg38",
        "id": "chr8:g.99766972T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1563908020",
        "rs": 1563908020
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-99766972-T-C?dataset=gnomad_r4",
        "id": "8-99766972-T-C",
        "variant": "8:99766972 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 99766972,
          "referenceAllele": "T",
          "start": 99766971
        }
      ],
      "hgvs": [
        "NC_000008.11:g.99766972T>C",
        "CM000670.2:g.99766972T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 100779200,
          "referenceAllele": "T",
          "start": 100779199
        }
      ],
      "hgvs": [
        "NC_000008.10:g.100779200T>C",
        "CM000670.1:g.100779200T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 100848376,
          "referenceAllele": "T",
          "start": 100848375
        }
      ],
      "hgvs": [
        "NC_000008.9:g.100848376T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 758707,
          "referenceAllele": "T",
          "start": 758706
        }
      ],
      "hgvs": [
        "NG_007098.2:g.758707T>C",
        "LRG_351:g.758707T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000479"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7392,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7392,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000682153.1:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507923.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827150"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7392,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7392,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000682358.1:n.7392+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827350"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7288,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7288,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000683334.1:c.*3004+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507369.1:n.*3004+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7350,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7350,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000357162.7:c.7247+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349685.2:n.7247+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748899",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.7247+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.7247+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:n.7247+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:n.7247+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000358544.7:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351346.2:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS749089",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.7322+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.7322+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:n.7322+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:n.7322+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7358,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7358,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000357162.6:c.7247+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349685.2:n.7247+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264002"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7433,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7433,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000358544.6:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351346.2:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 377,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "ENST00000518569.1:n.377+2T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS345996"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7433,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7433,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.4:c.7322+2T>C",
        "LRG_351t1:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035281"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7358,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7358,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.4:c.7247+2T>C",
        "LRG_351t2:c.7247+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:n.7247+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041979"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7739,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7739,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250800.2:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250857.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059322"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7552,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7552,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250801.3:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250858.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059323"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7422,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7422,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516848.1:c.7319+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515150.1:n.7319+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7347,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7347,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516849.1:c.7244+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515151.1:n.7244+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084048"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7054,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7054,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516850.1:c.6944+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515152.1:n.6944+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084049"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4338,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4338,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516851.1:c.4208+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515153.1:n.4208+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4314,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4314,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516852.1:c.4208+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515154.1:n.4208+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084051"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516853.1:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515155.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084052"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3222,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3222,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.1:c.3101+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:n.3101+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084053"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2065,
          "endIntronDirection": "+",
          "endIntronOffset": 3716,
          "referenceAllele": "A",
          "start": 2065,
          "startIntronDirection": "+",
          "startIntronOffset": 3715
        }
      ],
      "hgvs": [
        "XR_928446.1:n.2065+3716A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124851"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7739,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7739,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250800.3:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250857.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533506"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7538,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7538,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_005250801.5:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250858.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533507"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7422,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7422,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516848.2:c.7319+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515150.1:n.7319+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544313"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7347,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7347,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516849.2:c.7244+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515151.1:n.7244+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544314"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7065,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7065,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516850.2:c.6944+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515152.1:n.6944+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544315"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4325,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4325,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516851.2:c.4208+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515153.1:n.4208+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544316"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4363,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4363,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516852.2:c.4208+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515154.1:n.4208+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544317"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516853.2:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515155.1:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544318"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3521,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3521,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_011516854.2:c.3101+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515156.1:n.3101+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544319"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7230,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7230,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013109.1:c.7127+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868598.1:n.7127+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566488"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4595,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 4595,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013111.1:c.4208+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868600.1:n.4208+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566489"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3737,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 3737,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_017013112.1:c.2879+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868601.1:n.2879+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566490"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7504,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7504,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "XM_024447074.1:c.6107+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302842.1:n.6107+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7425,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7425,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_017890.5:c.7322+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_060360.3:n.7322+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728272",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000358544.7:c.7322+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_017890.5:c.7322+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000351346.2:n.7322+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_060360.3:n.7322+2T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 7350,
          "endIntronDirection": "+",
          "endIntronOffset": 2,
          "referenceAllele": "T",
          "start": 7350,
          "startIntronDirection": "+",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002183",
      "geneNCBI_id": 157680,
      "geneSymbol": "VPS13B",
      "hgvs": [
        "NM_152564.5:c.7247+2T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_689777.3:n.7247+2T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729400",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357162.7:c.7247+2T>C"
          },
          "RefSeq": {
            "hgvs": "NM_152564.5:c.7247+2T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349685.2:n.7247+2T>C"
          },
          "RefSeq": {
            "hgvs": "NP_689777.3:n.7247+2T>C"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}