{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA347220141",
  "communityStandardTitle": [
    "NM_001130987.2(DYSF):c.5004-2A>G"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=940722[alleleid]",
        "alleleId": 940722,
        "preferredName": "NM_001130987.2(DYSF):c.5004-2A>G"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/948901",
        "RCV": [
          "RCV001220247"
        ],
        "variationId": 948901
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71891396A>G?assembly=hg19",
        "id": "chr2:g.71891396A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.71664266A>G?assembly=hg38",
        "id": "chr2:g.71664266A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2094956322",
        "rs": 2094956322
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71664266,
          "referenceAllele": "A",
          "start": 71664265
        }
      ],
      "hgvs": [
        "NC_000002.12:g.71664266A>G",
        "CM000664.2:g.71664266A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71891396,
          "referenceAllele": "A",
          "start": 71891395
        }
      ],
      "hgvs": [
        "NC_000002.11:g.71891396A>G",
        "CM000664.1:g.71891396A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "G",
          "end": 71744904,
          "referenceAllele": "A",
          "start": 71744903
        }
      ],
      "hgvs": [
        "NC_000002.10:g.71744904A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 215644,
          "referenceAllele": "A",
          "start": 215643
        }
      ],
      "hgvs": [
        "NG_008694.1:g.215644A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001172"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2417,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 2417,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698057.1:c.2418-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513536.1:n.2418-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909126"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1825,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1825,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698058.1:c.1635-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513537.1:n.1635-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909127"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1933,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1933,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000698059.1:c.1743-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513538.1:n.1743-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909128"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5324,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5324,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.8:c.4887-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:n.4887-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS823608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4887-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4887-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:n.4887-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:n.4887-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5147,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5147,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.8:c.5004-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:n.5004-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754364",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5004-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5004-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:n.5004-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:n.5004-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5163,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5163,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000258104.7:c.4887-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000258104.3:n.4887-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250344"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5030,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5030,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000394120.6:c.4890-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000377678.2:n.4890-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275989"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5093,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5093,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409366.5:c.4953-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386512.1:n.4953-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281485"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5277,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5277,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409582.7:c.5001-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386547.3:n.5001-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5123,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5123,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409651.5:c.4983-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386683.1:n.4983-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5051,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5051,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409744.5:c.4911-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386285.1:n.4911-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5214,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5214,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000409762.5:c.4938-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387137.1:n.4938-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281827"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5144,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5144,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410020.7:c.5004-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386881.3:n.5004-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5081,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5081,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000410041.1:c.4941-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386617.1:n.4941-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS282070"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5256,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5256,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000413539.6:c.4980-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407046.2:n.4980-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283111"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5226,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5226,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000429174.6:c.4950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398305.2:n.4950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS290540"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1771,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 1771,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "ENST00000479049.6:n.1772-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS319515"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5030,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5030,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.1:c.4890-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:n.4890-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012028"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5220,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5220,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.1:c.4845-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:n.4845-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012145"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5283,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5283,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.1:c.4908-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:n.4908-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012146"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5325,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5325,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.1:c.4950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:n.4950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012147"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5355,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5355,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.1:c.4980-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:n.4980-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012148"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5313,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5313,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.1:c.4938-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:n.4938-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012149"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5376,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5376,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.1:c.5001-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:n.5001-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012150"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5123,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5123,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.1:c.4983-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:n.4983-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012151"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5093,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5093,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.1:c.4953-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:n.4953-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012152"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5051,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5051,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.1:c.4911-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:n.4911-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012153"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5081,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5081,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.1:c.4941-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:n.4941-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012154"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4988,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4988,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.1:c.4848-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:n.4848-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012155"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5144,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5144,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.1:c.5004-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:n.5004-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012156"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5262,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5262,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.3:c.4887-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:n.4887-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5185,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5185,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.3:c.5046-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:n.5046-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064299"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5922,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5922,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.3:c.5043-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:n.5043-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064300"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5201,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5201,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264584.4:c.5046-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264641.1:n.5046-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5887,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5887,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XM_005264585.5:c.5043-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264642.1:n.5043-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535913"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5203,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5203,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "XR_001738969.1:n.5204-2A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5147,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5147,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130987.2:c.5004-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124459.1:n.5004-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663608",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000410020.8:c.5004-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001130987.2:c.5004-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386881.3:n.5004-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_001124459.1:n.5004-2A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5033,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5033,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130455.2:c.4890-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001123927.1:n.4890-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677114"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5282,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5282,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130976.2:c.4845-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124448.1:n.4845-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677174"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5345,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5345,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130977.2:c.4908-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124449.1:n.4908-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677175"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5387,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5387,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130978.2:c.4950-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124450.1:n.4950-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677176"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5417,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5417,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130979.2:c.4980-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124451.1:n.4980-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677177"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5375,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5375,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130980.2:c.4938-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124452.1:n.4938-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677178"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5438,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5438,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130981.2:c.5001-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124453.1:n.5001-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5126,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5126,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130982.2:c.4983-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124454.1:n.4983-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677180"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5096,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5096,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130983.2:c.4953-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124455.1:n.4953-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677181"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5054,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5054,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130984.2:c.4911-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124456.1:n.4911-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677182"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5084,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5084,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130985.2:c.4941-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124457.1:n.4941-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4991,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 4991,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_001130986.2:c.4848-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001124458.1:n.4848-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677184"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5324,
          "endIntronDirection": "-",
          "endIntronOffset": 1,
          "referenceAllele": "A",
          "start": 5324,
          "startIntronDirection": "-",
          "startIntronOffset": 2
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003097",
      "geneNCBI_id": 8291,
      "geneSymbol": "DYSF",
      "hgvs": [
        "NM_003494.4:c.4887-2A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003485.1:n.4887-2A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695850",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000258104.8:c.4887-2A>G"
          },
          "RefSeq": {
            "hgvs": "NM_003494.4:c.4887-2A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000258104.3:n.4887-2A>G"
          },
          "RefSeq": {
            "hgvs": "NP_003485.1:n.4887-2A>G"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}