{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA346137448",
  "communityStandardTitle": [
    "NM_194248.3(OTOF):c.4103C>G (p.Ser1368Ter)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26690357G>C?assembly=hg19",
        "id": "chr2:g.26690357G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.26467489G>C?assembly=hg38",
        "id": "chr2:g.26467489G>C"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 26467489,
          "referenceAllele": "G",
          "start": 26467488
        }
      ],
      "hgvs": [
        "NC_000002.12:g.26467489G>C",
        "CM000664.2:g.26467489G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 26690357,
          "referenceAllele": "G",
          "start": 26690356
        }
      ],
      "hgvs": [
        "NC_000002.11:g.26690357G>C",
        "CM000664.1:g.26690357G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "C",
          "end": 26543861,
          "referenceAllele": "G",
          "start": 26543860
        }
      ],
      "hgvs": [
        "NC_000002.10:g.26543861G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 96210,
          "referenceAllele": "C",
          "start": 96209
        }
      ],
      "hgvs": [
        "NG_009937.1:g.96210C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001703"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4288,
          "referenceAllele": "C",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.7:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Ser1368Ter",
        "hgvsWellDefined": "ENSP00000272371.2:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743242",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.4103C>G"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.4103C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Ser1368Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Ser1368Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.8:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Ser601Ter",
        "hgvsWellDefined": "ENSP00000344521.3:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747833",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.1802C>G"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.1802C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Ser601Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Ser601Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.8:c.1862C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.4:p.Ser621Ter",
        "hgvsWellDefined": "ENSP00000383906.4:p.Ser621_Ala1250delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754006"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4230,
          "referenceAllele": "C",
          "start": 4229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000272371.6:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000272371.2:p.Ser1368Ter",
        "hgvsWellDefined": "ENSP00000272371.2:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000338581.10:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345137.6:p.Ser601Ter",
        "hgvsWellDefined": "ENSP00000345137.6:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260687"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000339598.7:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344521.3:p.Ser601Ter",
        "hgvsWellDefined": "ENSP00000344521.3:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS260908"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000402415.7:c.2033C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000383906.3:p.Ser678Ter",
        "hgvsWellDefined": "ENSP00000383906.3:p.Ser678_Ala1307delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279510"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4210,
          "referenceAllele": "C",
          "start": 4209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "ENST00000403946.7:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385255.3:p.Ser1368Ter",
        "hgvsWellDefined": "ENSP00000385255.3:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279939"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4230,
          "referenceAllele": "C",
          "start": 4229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.1:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Ser1368Ter",
        "hgvsWellDefined": "NP_001274418.1:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS023354"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.3:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Ser601Ter",
        "hgvsWellDefined": "NP_004793.2:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029949"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4230,
          "referenceAllele": "C",
          "start": 4229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.2:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Ser1368Ter",
        "hgvsWellDefined": "NP_919224.1:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044301"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2182,
          "referenceAllele": "C",
          "start": 2181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.2:c.2033C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_919303.1:p.Ser678_Ala1307delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044339"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.2:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Ser601Ter",
        "hgvsWellDefined": "NP_919304.1:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044340"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4088,
          "referenceAllele": "C",
          "start": 4087
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_005264644.2:c.4088C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005264701.1:p.Ser1363Ter",
        "hgvsWellDefined": "XP_005264701.1:p.Ser1363_Ala1992delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064327"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4148,
          "referenceAllele": "C",
          "start": 4147
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_011533185.1:c.4148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531487.1:p.Ser1383Ter",
        "hgvsWellDefined": "XP_011531487.1:p.Ser1383_Ala2012delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100210"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4043,
          "referenceAllele": "C",
          "start": 4042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "XM_017005338.1:c.4043C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016860827.1:p.Ser1348Ter",
        "hgvsWellDefined": "XP_016860827.1:p.Ser1348_Ala1977delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS560624"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4288,
          "referenceAllele": "C",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_001287489.2:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001274418.1:p.Ser1368Ter",
        "hgvsWellDefined": "NP_001274418.1:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS682405"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_004802.4:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_004793.2:p.Ser601Ter",
        "hgvsWellDefined": "NP_004793.2:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4288,
          "referenceAllele": "C",
          "start": 4287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194248.3:c.4103C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919224.1:p.Ser1368Ter",
        "hgvsWellDefined": "NP_919224.1:p.Ser1368_Ala1997delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701195",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000272371.7:c.4103C>G"
          },
          "RefSeq": {
            "hgvs": "NM_194248.3:c.4103C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000272371.2:p.Ser1368Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919224.1:p.Ser1368Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2264,
          "referenceAllele": "C",
          "start": 2263
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194322.3:c.2033C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919303.1:p.Ser678Ter",
        "hgvsWellDefined": "NP_919303.1:p.Ser678_Ala1307delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrSerPheIleTrpPheLeuAsnProLeuLysSerAlaArgTyrPheLeuTrpHisThrTyrArgTrpLeuLeuLeuLysLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuLeuAlaLeuPheLeuTyrSerValProGlyTyrLeuValLysLysIleLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701212"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2110,
          "referenceAllele": "C",
          "start": 2109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008515",
      "geneNCBI_id": 9381,
      "geneSymbol": "OTOF",
      "hgvs": [
        "NM_194323.3:c.1802C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_919304.1:p.Ser601Ter",
        "hgvsWellDefined": "NP_919304.1:p.Ser601_Ala1230delinsMetLysGlyLysGluLysAlaArgAlaAlaLysGluGluLysLysLysLysThrGlnSerSerGlySerGlyGlnGlySerGluAlaProGluLysLysLysProLysIleAspGluLeuLysValTyrProLysGluLeuGluSerGluPheAspAsnPheGluAspTrpLeuHisThrPheAsnLeuLeuArgGlyLysThrGlyAspAspGluAspGlySerThrGluGluGluArgIleValGlyArgPheLysGlySerLeuCysValTyrLysValProLeuProGluAspValSerArgGluAlaGlyTyrAspSerThrTyrGlyMetPheGlnGlyIleProSerAsnAspProIleAsnValLeuValArgValTyrValValArgAlaThrAspLeuHisProAlaAspIleAsnGlyLysAlaAspProTyrIleAlaIleArgLeuGlyLysThrAspIleArgAspLysGluAsnTyrIleSerLysGlnLeuAsnProValPheGlyLysSerPheAspIleGluAlaSerPheProMetGluSerMetLeuThrValAlaValTyrAspTrpAspLeuValGlyThrAspAspLeuIleGlyGluThrLysIleAspLeuGluAsnArgPheTyrSerLysHisArgAlaThrCysGlyIleAlaGlnThrTyrSerThrHisGlyTyrAsnIleTrpArgAspProMetLysProSerGlnIleLeuThrArgLeuCysLysAspGlyLysValAspGlyProHisPheGlyProProGlyArgValLysValAlaAsnArgValPheThrGlyProSerGluIleGluAspGluAsnGlyGlnArgLysProThrAspGluHisValAlaLeuLeuAlaLeuArgHisTrpGluAspIleProArgAlaGlyCysArgLeuValProGluHisValGluThrArgProLeuLeuAsnProAspLysProGlyIleGluGlnGlyArgLeuGluLeuTrpValAspMetPheProMetAspMetProAlaProGlyThrProLeuAspIleSerProArgLysProLysLysTyrGluLeuArgValIleIleTrpAsnThrAspGluValValLeuGluAspAspAspPhePheThrGlyGluLysSerSerAspIlePheValArgGlyTrpLeuLysGlyGlnGlnGluAspLysGlnAspThrAspValHisTyrHisSerLeuThrGlyGluGlyAsnPheAsnTrpArgTyrLeuPheProPheAspTyrLeuAlaAlaGluGluLysIleValIleSerLysLysGluSerMetPheSerTrpAspGluThrGluTyrLysIleProAlaArgLeuThrLeuGlnIleTrpAspAlaAspHisPheSerAlaAspAspPheLeuGlyAlaIleGluLeuAspLeuAsnArgPheProArgGlyAlaLysThrAlaLysGlnCysThrMetGluMetAlaThrGlyGluValAspValProLeuValSerIlePheLysGlnLysArgValLysGlyTrpTrpProLeuLeuAlaArgAsnGluAsnAspGluPheGluLeuThrGlyLysValGluAlaGluLeuHisLeuLeuThrAlaGluGluAlaGluLysAsnProValGlyLeuAlaArgAsnGluProAspProLeuGluLysProAsnArgProAspThrAlaPheValTrpPheLeuAsnProLeuLysSerIleLysTyrLeuIleCysThrArgTyrLysTrpLeuIleIleLysIleValLeuAlaLeuLeuGlyLeuLeuMetLeuGlyLeuPheLeuTyrSerLeuProGlyTyrMetValLysLysLeuLeuGlyAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701213",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000339598.8:c.1802C>G"
          },
          "RefSeq": {
            "hgvs": "NM_194323.3:c.1802C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344521.3:p.Ser601Ter"
          },
          "RefSeq": {
            "hgvs": "NP_919304.1:p.Ser601Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}