{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10576735",
  "communityStandardTitle": [
    "NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4437378",
        "active": true,
        "id": "COSM4437378"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4437379",
        "active": true,
        "id": "COSM4437379"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=229627[alleleid]",
        "alleleId": 229627,
        "preferredName": "NM_000503.6(EYA1):c.1090G>T (p.Glu364Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/228345",
        "RCV": [
          "RCV000221224"
        ],
        "variationId": 228345
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.72156888C>A?assembly=hg19",
        "id": "chr8:g.72156888C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.71244653C>A?assembly=hg38",
        "id": "chr8:g.71244653C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/876657689",
        "rs": 876657689
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 71244653,
          "referenceAllele": "C",
          "start": 71244652
        }
      ],
      "hgvs": [
        "NC_000008.11:g.71244653C>A",
        "CM000670.2:g.71244653C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 72156888,
          "referenceAllele": "C",
          "start": 72156887
        }
      ],
      "hgvs": [
        "NC_000008.10:g.72156888C>A",
        "CM000670.1:g.72156888C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "A",
          "end": 72319442,
          "referenceAllele": "C",
          "start": 72319441
        }
      ],
      "hgvs": [
        "NC_000008.9:g.72319442C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 122580,
          "referenceAllele": "G",
          "start": 122579
        }
      ],
      "hgvs": [
        "NG_011735.2:g.122580G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001938"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 308478,
          "referenceAllele": "G",
          "start": 308477
        }
      ],
      "hgvs": [
        "NG_011735.3:g.308478G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616149"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "G",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.8:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:p.Glu364Ter",
        "hgvsWellDefined": "ENSP00000342626.3:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747927",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.1090G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.1090G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:p.Glu364Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:p.Glu364Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "G",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.7:c.988G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:p.Glu330Ter",
        "hgvsWellDefined": "ENSP00000373393.2:p.Glu330_Leu558delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752747"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1089,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000419131.6:c.1035+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410176.1:n.1035+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.6:c.*369G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.*369G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756822"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "G",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000493349.2:c.326G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1553,
          "referenceAllele": "G",
          "start": 1552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000496494.6:n.1553G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS757833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1303,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000642391.1:c.*817+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496700.1:n.*817+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1522,
          "referenceAllele": "G",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000643681.1:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000495390.1:p.Glu393Ter",
        "hgvsWellDefined": "ENSP00000495390.1:p.Glu393_Leu621delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1327,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1327,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644229.1:c.1122+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494568.1:n.1122+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 160,
          "referenceAllele": "G",
          "start": 159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644424.1:n.160G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS767810"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1383,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000644712.1:c.1119+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496188.1:n.1119+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1736,
          "referenceAllele": "G",
          "start": 1735
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000645793.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496255.1:p.Glu364Ter",
        "hgvsWellDefined": "ENSP00000496255.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768549"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "G",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000647540.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000494438.1:p.Glu364Ter",
        "hgvsWellDefined": "ENSP00000494438.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1340,
          "referenceAllele": "G",
          "start": 1339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000303824.11:c.1072G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000303221.7:p.Glu358Ter",
        "hgvsWellDefined": "ENSP00000303221.7:p.Glu358_Leu586delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255367"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000340726.7:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342626.3:p.Glu364Ter",
        "hgvsWellDefined": "ENSP00000342626.3:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388740.4:c.991G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373392.3:p.Glu331Ter",
        "hgvsWellDefined": "ENSP00000373392.3:p.Glu331_Leu559delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1503,
          "referenceAllele": "G",
          "start": 1502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388741.6:c.988G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373393.2:p.Glu330Ter",
        "hgvsWellDefined": "ENSP00000373393.2:p.Glu330_Leu558delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "G",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388742.8:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373394.4:p.Glu364Ter",
        "hgvsWellDefined": "ENSP00000373394.4:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274066"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1239,
          "referenceAllele": "G",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000388743.6:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000373395.2:p.Glu363Ter",
        "hgvsWellDefined": "ENSP00000373395.2:p.Glu363_Leu591delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274067"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1064,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000419131.5:c.1035+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410176.1:n.1035+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS285740"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1147,
          "referenceAllele": "G",
          "start": 1146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000465115.5:c.*369G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428391.1:n.*369G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS308784"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 326,
          "referenceAllele": "G",
          "start": 325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000493349.1:c.7G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000428517.1:p.Glu3Ter",
        "hgvsWellDefined": "ENSP00000428517.1:p.Glu3_Ala41delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluSerArgAlaSerArgGluSerMetMetLeuValLysLeuGlyArgArgLysProSerSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS330519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "G",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "ENST00000496494.5:n.1585G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS332943"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825203151",
      "coordinates": [
        {
          "allele": "T",
          "end": 1730,
          "referenceAllele": "G",
          "start": 1729
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.5:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:p.Glu364Ter",
        "hgvsWellDefined": "NP_000494.2:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006557"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707399",
      "coordinates": [
        {
          "allele": "T",
          "end": 1712,
          "referenceAllele": "G",
          "start": 1711
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.1:c.1072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:p.Glu358Ter",
        "hgvsWellDefined": "NP_001275503.1:p.Glu358_Leu586delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023477"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707767",
      "coordinates": [
        {
          "allele": "T",
          "end": 1648,
          "referenceAllele": "G",
          "start": 1647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.1:c.724G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:p.Glu242Ter",
        "hgvsWellDefined": "NP_001275504.1:p.Glu242_Leu470delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023478"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645408311",
      "coordinates": [
        {
          "allele": "T",
          "end": 1322,
          "referenceAllele": "G",
          "start": 1321
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172058.3:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742055.1:p.Glu364Ter",
        "hgvsWellDefined": "NP_742055.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042627"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1089,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.3:c.1035+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.1:n.1035+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042628"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1194,
          "referenceAllele": "G",
          "start": 1193
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172060.3:c.991G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742057.1:p.Glu331Ter",
        "hgvsWellDefined": "NP_742057.1:p.Glu331_Leu559delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042629"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517481.1:c.1162G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515783.1:p.Glu388Ter",
        "hgvsWellDefined": "XP_011515783.1:p.Glu388_Trp654delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "G",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517482.1:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515784.1:p.Glu393Ter",
        "hgvsWellDefined": "XP_011515784.1:p.Glu393_Trp659delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1141,
          "referenceAllele": "G",
          "start": 1140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.1:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:p.Glu363Ter",
        "hgvsWellDefined": "XP_011515785.1:p.Glu363_Leu591delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "G",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.1:c.1075G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.1:p.Glu359Ter",
        "hgvsWellDefined": "XP_011515786.1:p.Glu359_Leu587delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084678"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1466,
          "referenceAllele": "G",
          "start": 1465
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517485.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515787.1:p.Glu364Ter",
        "hgvsWellDefined": "XP_011515787.1:p.Glu364_Trp630delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084679"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2316,
          "referenceAllele": "G",
          "start": 2315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517486.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515788.1:p.Glu364Ter",
        "hgvsWellDefined": "XP_011515788.1:p.Glu364_Trp630delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "G",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517487.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515789.1:p.Glu364Ter",
        "hgvsWellDefined": "XP_011515789.1:p.Glu364_Trp630delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084681"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517488.1:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515790.1:p.Glu363Ter",
        "hgvsWellDefined": "XP_011515790.1:p.Glu363_Trp629delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084682"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "G",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517489.1:c.1027G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515791.1:p.Glu343Ter",
        "hgvsWellDefined": "XP_011515791.1:p.Glu343_Trp609delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1499,
          "referenceAllele": "G",
          "start": 1498
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517490.1:c.991G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515792.1:p.Glu331Ter",
        "hgvsWellDefined": "XP_011515792.1:p.Glu331_Trp597delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1338,
          "referenceAllele": "G",
          "start": 1337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517491.1:c.991G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515793.1:p.Glu331Ter",
        "hgvsWellDefined": "XP_011515793.1:p.Glu331_Trp597delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084685"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1272,
          "referenceAllele": "G",
          "start": 1271
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517492.1:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515794.1:p.Glu247Ter",
        "hgvsWellDefined": "XP_011515794.1:p.Glu247_Trp513delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysAlaArgAspAlaLeuLeuGluAspLeuGlnProLeuGlyProHisGlyProAlaProCysLeuGlyThrGlyValProValThrAlaLeuGlyThrLeuThrAlaHisSerCysSerValThrArgAspArgSerSerArgProGlnSerArgIleSerAlaGlyLeuGlnAsnLeuAlaIleSerAlaTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084686"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1337,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1337,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.4:c.1122+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:n.1122+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6027,
          "referenceAllele": "G",
          "start": 6026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517483.2:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515785.1:p.Glu363Ter",
        "hgvsWellDefined": "XP_011515785.1:p.Glu363_Leu591delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544551"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1474,
          "referenceAllele": "G",
          "start": 1473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_011517484.3:c.1162G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515786.2:p.Glu388Ter",
        "hgvsWellDefined": "XP_011515786.2:p.Glu388_Leu616delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1516,
          "referenceAllele": "G",
          "start": 1515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013201.1:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868690.1:p.Glu393Ter",
        "hgvsWellDefined": "XP_016868690.1:p.Glu393_Leu621delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566568"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1360,
          "referenceAllele": "G",
          "start": 1359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013202.1:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868691.1:p.Glu393Ter",
        "hgvsWellDefined": "XP_016868691.1:p.Glu393_Leu621delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566569"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1486,
          "referenceAllele": "G",
          "start": 1485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013203.2:c.1174G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868692.1:p.Glu392Ter",
        "hgvsWellDefined": "XP_016868692.1:p.Glu392_Leu620delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1472,
          "referenceAllele": "G",
          "start": 1471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013204.2:c.1159G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868693.1:p.Glu387Ter",
        "hgvsWellDefined": "XP_016868693.1:p.Glu387_Leu615delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566571"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1489,
          "referenceAllele": "G",
          "start": 1488
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013205.2:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868694.1:p.Glu393Ter",
        "hgvsWellDefined": "XP_016868694.1:p.Glu393_Ser603delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysValTyrGluSerSerGlyValSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566572"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1469,
          "referenceAllele": "G",
          "start": 1468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013206.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868695.1:p.Glu364Ter",
        "hgvsWellDefined": "XP_016868695.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566573"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1448,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1448,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013207.2:c.1137+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868696.1:n.1137+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "G",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013208.2:c.1087G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868697.1:p.Glu363Ter",
        "hgvsWellDefined": "XP_016868697.1:p.Glu363_Leu591delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566575"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1432,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1432,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013210.2:c.1119+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868699.1:n.1119+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "G",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013211.2:c.1027G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868700.1:p.Glu343Ter",
        "hgvsWellDefined": "XP_016868700.1:p.Glu343_Leu571delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1622,
          "referenceAllele": "G",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013212.2:c.991G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868701.1:p.Glu331Ter",
        "hgvsWellDefined": "XP_016868701.1:p.Glu331_Leu559delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566578"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6165,
          "referenceAllele": "G",
          "start": 6164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "XM_017013213.1:c.739G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868702.1:p.Glu247Ter",
        "hgvsWellDefined": "XP_016868702.1:p.Glu247_Leu475delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566579"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825203151",
      "coordinates": [
        {
          "allele": "T",
          "end": 1567,
          "referenceAllele": "G",
          "start": 1566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_000503.6:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000494.2:p.Glu364Ter",
        "hgvsWellDefined": "NP_000494.2:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662465",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340726.8:c.1090G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000503.6:c.1090G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342626.3:p.Glu364Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000494.2:p.Glu364Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707399",
      "coordinates": [
        {
          "allele": "T",
          "end": 1549,
          "referenceAllele": "G",
          "start": 1548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288574.2:c.1072G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275503.1:p.Glu358Ter",
        "hgvsWellDefined": "NP_001275503.1:p.Glu358_Leu586delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826707767",
      "coordinates": [
        {
          "allele": "T",
          "end": 1485,
          "referenceAllele": "G",
          "start": 1484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001288575.2:c.724G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001275504.1:p.Glu242Ter",
        "hgvsWellDefined": "NP_001275504.1:p.Glu242_Leu470delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682452"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916048406",
      "coordinates": [
        {
          "allele": "T",
          "end": 1480,
          "referenceAllele": "G",
          "start": 1479
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370333.1:c.1177G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357262.1:p.Glu393Ter",
        "hgvsWellDefined": "NP_001357262.1:p.Glu393_Leu621delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692340"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828406828",
      "coordinates": [
        {
          "allele": "T",
          "end": 1513,
          "referenceAllele": "G",
          "start": 1512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370334.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357263.1:p.Glu364Ter",
        "hgvsWellDefined": "NP_001357263.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692341"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828407077",
      "coordinates": [
        {
          "allele": "T",
          "end": 1769,
          "referenceAllele": "G",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370335.1:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357264.1:p.Glu364Ter",
        "hgvsWellDefined": "NP_001357264.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1422,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1422,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_001370336.1:c.1119+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001357265.1:n.1119+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645408311",
      "coordinates": [
        {
          "allele": "T",
          "end": 1339,
          "referenceAllele": "G",
          "start": 1338
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172058.4:c.1090G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742055.1:p.Glu364Ter",
        "hgvsWellDefined": "NP_742055.1:p.Glu364_Leu592delinsMetIlePheAsnLeuAlaAspThrHisLeuPhePheAsnAspLeuGluGluCysAspGlnValHisIleAspAspValSerSerAspAspAsnGlyGlnAspLeuSerThrTyrAsnPheGlyThrAspGlyPheProAlaAlaAlaThrSerAlaAsnLeuCysLeuAlaThrGlyValArgGlyGlyValAspTrpMetArgLysLeuAlaPheArgTyrArgArgValLysGluIleTyrAsnThrTyrLysAsnAsnValGlyGlyLeuLeuGlyProAlaLysArgGluAlaTrpLeuGlnLeuArgAlaGluIleGluAlaLeuThrAspSerTrpLeuThrLeuAlaLeuLysAlaLeuSerLeuIleHisSerArgThrAsnCysValAsnIleLeuValThrThrThrGlnLeuIleProAlaLeuAlaLysValLeuLeuTyrGlyLeuGlyIleValPheProIleGluAsnIleTyrSerAlaThrLysIleGlyLysGluSerCysPheGluArgIleIleGlnArgPheGlyArgLysValValTyrValValIleGlyAspGlyValGluGluGluGlnGlyAlaLysLysHisAlaMetProPheTrpArgIleSerSerHisSerAspLeuMetAlaLeuHisHisAlaLeuGluLeuGluTyrLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1384,
          "endIntronDirection": "+",
          "endIntronOffset": 25087,
          "referenceAllele": "G",
          "start": 1384,
          "startIntronDirection": "+",
          "startIntronOffset": 25086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003519",
      "geneNCBI_id": 2138,
      "geneSymbol": "EYA1",
      "hgvs": [
        "NM_172059.5:c.1122+25087G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_742056.2:n.1122+25087G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700464"
    }
  ],
  "type": "nucleotide"
}