{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA12765682",
  "communityStandardTitle": [
    "NM_000503.6(EYA1):c.125-1765A>G"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.72248174T>C?assembly=hg19",
        "id": "chr8:g.72248174T>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.71335939T>C?assembly=hg38",
        "id": "chr8:g.71335939T>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/3779748",
        "rs": 3779748
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-72248174-T-C?dataset=gnomad_r2_1",
        "id": "8-72248174-T-C",
        "variant": "8:72248174 T / C"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-71335939-T-C?dataset=gnomad_r3",
        "id": "8-71335939-T-C",
        "variant": "8:71335939 T / C"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-71335939-T-C?dataset=gnomad_r4",
        "id": "8-71335939-T-C",
        "variant": "8:71335939 T / C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 71335939,
          "referenceAllele": "T",
          "start": 71335938
        }
      ],
      "hgvs": [
        "NC_000008.11:g.71335939T>C",
        "CM000670.2:g.71335939T>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 72248174,
          "referenceAllele": "T",
          "start": 72248173
        }
      ],
      "hgvs": [
        "NC_000008.10:g.72248174T>C",
        "CM000670.1:g.72248174T>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "C",
          "end": 72410728,
          "referenceAllele": "T",
          "start": 72410727
        }
      ],
      "hgvs": [
        "NC_000008.9:g.72410728T>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31294,
          "referenceAllele": "A",
          "start": 31293
        }
      ],
      "hgvs": [
        "NG_011735.2:g.31294A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001938"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 217192,
          "referenceAllele": "A",
          "start": 217191
        }
      ],
      "hgvs": [
        "NG_011735.3:g.217192A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.8:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.125-1765A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.125-1765A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:n.125-1765A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:n.125-1765A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.7:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752747"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000419131.6:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410176.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754777"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.6:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 268,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000496494.6:n.269-1765A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757833"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 361,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 361,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000642391.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496700.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766716"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 556,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 556,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000643681.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495390.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767406"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 416,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 416,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644229.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494568.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767712"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 475,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 475,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644712.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496188.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000645451.1:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494888.1:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768360"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 770,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 770,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000645793.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496255.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768549"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 469,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000647540.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494438.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769473"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 392,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 392,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000303824.11:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303221.7:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.7:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388740.4:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373392.3:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274064"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 540,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 540,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.6:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274065"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 345,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388742.8:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373394.4:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274066"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 276,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 276,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388743.6:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373395.2:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274067"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 153,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 153,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000419131.5:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410176.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 263,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 263,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.5:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 300,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 300,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000496494.5:n.301-1765A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332943"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.5:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006557"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023477"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 764,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 764,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.1:c.-160-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:n.-160-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023478"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 356,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 356,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172058.3:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742055.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042627"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.3:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042628"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 228,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 228,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172060.3:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742057.1:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042629"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 308,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 308,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517481.1:c.200-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515783.1:n.200-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 344,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 344,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517482.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515784.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 178,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 178,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 500,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 500,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517485.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515787.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1350,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 1350,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517486.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515788.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 271,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 271,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517487.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515789.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517488.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515790.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 401,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 401,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517489.1:c.62-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515791.1:n.62-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 533,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 533,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517490.1:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515792.1:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 372,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517491.1:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515793.1:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517492.1:c.-160-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515794.1:n.-160-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 426,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 426,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.4:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526725"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5064,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 5064,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.2:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544551"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.3:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.2:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544552"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 550,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 550,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013201.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868690.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566568"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 394,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 394,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013202.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868691.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566569"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013203.2:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868692.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566570"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013204.2:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868693.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566571"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 523,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 523,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013205.2:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868694.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566572"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013206.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868695.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566573"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013207.2:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868696.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566574"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013208.2:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868697.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 524,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013210.2:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868699.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566576"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 393,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 393,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013211.2:c.62-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868700.1:n.62-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566577"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 656,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013212.2:c.26-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868701.1:n.26-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566578"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5266,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 5266,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013213.1:c.-160-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868702.1:n.-160-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566579"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.6:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.125-1765A>G"
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.125-1765A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:n.125-1765A>G"
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:n.125-1765A>G"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.2:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682451"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.2:c.-160-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:n.-160-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682452"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370333.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357262.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 547,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 547,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370334.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357263.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692341"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 803,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370335.1:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357264.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692342"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370336.1:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357265.1:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692343"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 373,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 373,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172058.4:c.125-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742055.1:n.125-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700463"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 1764,
          "referenceAllele": "A",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.5:c.212-1765A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:n.212-1765A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700464"
    }
  ],
  "type": "nucleotide"
}