{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA7267187",
  "communityStandardTitle": [
    "NM_005050.4(ABCD4):c.542+1G>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=264602[alleleid]",
        "alleleId": 264602,
        "preferredName": "NM_005050.4(ABCD4):c.542+1G>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/280107",
        "RCV": [
          "RCV000030861",
          "RCV000373583"
        ],
        "variationId": 280107
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/14-74763035-C-A",
        "id": "14-74763035-C-A",
        "variant": "14:74763035 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74763035C>A?assembly=hg19",
        "id": "chr14:g.74763035C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.74296332C>A?assembly=hg38",
        "id": "chr14:g.74296332C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/769364566",
        "rs": 769364566
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74763035-C-A?dataset=gnomad_r2_1",
        "id": "14-74763035-C-A",
        "variant": "14:74763035 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74296332-C-A?dataset=gnomad_r3",
        "id": "14-74296332-C-A",
        "variant": "14:74296332 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-74296332-C-A?dataset=gnomad_r4",
        "id": "14-74296332-C-A",
        "variant": "14:74296332 C / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74296332,
          "referenceAllele": "C",
          "start": 74296331
        }
      ],
      "hgvs": [
        "NC_000014.9:g.74296332C>A",
        "CM000676.2:g.74296332C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 74763035,
          "referenceAllele": "C",
          "start": 74763034
        }
      ],
      "hgvs": [
        "NC_000014.8:g.74763035C>A",
        "CM000676.1:g.74763035C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "A",
          "end": 73832788,
          "referenceAllele": "C",
          "start": 73832787
        }
      ],
      "hgvs": [
        "NC_000014.7:g.73832788C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11733,
          "referenceAllele": "G",
          "start": 11732
        }
      ],
      "hgvs": [
        "NG_032875.1:g.11733G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005248"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000356924.9:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349396.4:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748864",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356924.9:c.542+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005050.4:c.542+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349396.4:n.542+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005041.1:n.542+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 686,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 686,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000356924.8:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349396.4:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263923"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000460308.6:c.*243+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436527.2:n.*243+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS305065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 363,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 363,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000469672.5:c.*163+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434626.1:n.*163+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS312301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 752,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000470637.1:c.*534+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432630.1:n.*534+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS313027"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000475240.5:n.296+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS316563"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 439,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 439,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000481935.5:c.*243+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436782.1:n.*243+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 1737,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000489678.1:n.1737+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS327688"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000553486.5:c.*243+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450611.1:n.*243+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369891"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 480,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 480,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000553745.5:c.*303+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451778.1:n.*303+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 280,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000554453.5:c.274+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451457.1:n.274+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370649"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000555617.5:c.*163+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451521.1:n.*163+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 287,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 287,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000556119.5:c.*163+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000450491.1:n.*163+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371972"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 421,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 421,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000556971.1:c.421+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS372640"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 370,
          "endIntronDirection": "+",
          "endIntronOffset": 3216,
          "referenceAllele": "G",
          "start": 370,
          "startIntronDirection": "+",
          "startIntronOffset": 3215
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000557554.5:n.370+3216G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS373123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "ENST00000557588.5:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000451993.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS373155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_005050.3:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005041.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030179"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_003256.2:n.566+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267938.3:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267995.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267939.2:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267996.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267940.2:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267997.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267941.3:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267998.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 339,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 339,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267942.3:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267999.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065559"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 338,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 338,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267946.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268003.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065560"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267949.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268006.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 382,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 382,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267953.2:c.-148+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005268010.1:n.-148+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS065562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_006720223.1:c.281+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006720286.1:n.281+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 362,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 362,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537041.1:c.274+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535343.1:n.274+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537042.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535344.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 244,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537043.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535345.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS104013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_245710.2:n.627+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 627,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_943500.1:n.627+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS137523"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353591.1:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340520.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353592.1:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340521.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353593.1:c.281+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340522.1:n.281+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521791"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353594.1:c.281+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340523.1:n.281+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521792"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353595.1:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340524.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353596.1:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340525.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521794"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353597.1:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340526.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521795"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353598.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340527.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521796"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353599.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340528.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353600.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340529.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353601.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340530.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353602.1:c.-148+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340531.1:n.-148+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353603.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340532.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353604.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340533.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353605.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340534.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353606.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340535.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353607.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340536.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353608.1:c.-148+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340537.1:n.-148+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353609.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340538.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353610.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340539.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 554,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 554,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020324.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064720.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020325.2:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064730.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525966"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148466.1:n.694+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 426,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 426,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148467.1:n.426+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531185"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 447,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 447,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148468.1:n.447+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531186"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148469.1:n.694+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 566,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 566,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148470.1:n.566+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531188"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148471.1:n.694+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 648,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 648,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148472.1:n.648+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531190"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 575,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 575,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148473.1:n.575+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531191"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 694,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 694,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148474.1:n.694+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531192"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267940.3:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267997.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 348,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 348,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_005267942.4:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005267999.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536486"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 369,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_011537041.2:c.274+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011535343.1:n.274+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS552729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021531.2:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877020.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 313,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021534.1:c.-66+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877023.1:n.-66+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572708"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021539.1:c.-148+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877028.1:n.-148+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 345,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021540.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877029.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 596,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021541.2:c.-27+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877030.1:n.-27+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 330,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_017021542.1:c.-27+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016877031.1:n.-27+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 506,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449675.1:c.281+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305443.1:n.281+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583222"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 345,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449676.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305444.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583223"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449677.1:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305445.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583224"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 313,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 313,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449678.1:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305446.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583225"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XM_024449679.1:c.-27+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305447.1:n.-27+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583226"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750476.2:n.617+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597748"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750478.2:n.617+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597749"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750480.2:n.617+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597750"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750481.2:n.617+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 552,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750482.1:n.552+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597752"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 497,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 497,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_001750484.1:n.497+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597753"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 606,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 606,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_002957565.1:n.606+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS603699"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_245710.4:n.617+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS606193"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 617,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 617,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "XR_943500.3:n.617+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS613432"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_005050.4:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005041.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666788",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000356924.9:c.542+1G>T"
          },
          "RefSeq": {
            "hgvs": "NM_005050.4:c.542+1G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349396.4:n.542+1G>T"
          },
          "RefSeq": {
            "hgvs": "NP_005041.1:n.542+1G>T"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353591.2:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340520.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689797"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353592.2:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340521.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689798"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353593.2:c.281+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340522.1:n.281+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353594.2:c.281+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340523.1:n.281+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689800"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353595.2:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340524.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353596.2:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340525.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689802"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353597.2:c.133+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340526.1:n.133+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689803"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353598.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340527.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689804"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353599.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340528.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689805"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353600.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340529.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353601.2:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340530.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689807"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353602.2:c.-148+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340531.1:n.-148+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353603.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340532.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353604.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340533.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353605.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340534.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689811"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353606.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340535.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353607.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340536.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689813"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353608.2:c.-148+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340537.1:n.-148+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353609.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340538.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689815"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_001353610.2:c.-153+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340539.1:n.-153+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689816"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020324.3:c.65+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064720.1:n.65+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698215"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NM_020325.3:c.542+1G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_064730.1:n.542+1G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698216"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_003256.3:n.436+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS701830"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148466.2:n.564+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704762"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 296,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148467.2:n.296+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704763"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 317,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 317,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148468.2:n.317+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704764"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148469.2:n.564+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 436,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148470.2:n.436+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704766"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148471.2:n.564+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 518,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 518,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148472.2:n.518+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704768"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 445,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 445,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148473.2:n.445+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704769"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "endIntronDirection": "+",
          "endIntronOffset": 1,
          "referenceAllele": "G",
          "start": 564,
          "startIntronDirection": "+",
          "startIntronOffset": 0
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000068",
      "geneNCBI_id": 5826,
      "geneSymbol": "ABCD4",
      "hgvs": [
        "NR_148474.2:n.564+1G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704770"
    }
  ],
  "type": "nucleotide"
}