{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA224849261",
  "communityStandardTitle": [
    "NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=977162[alleleid]",
        "alleleId": 977162,
        "preferredName": "NM_000260.4(MYO7A):c.4635G>A (p.Trp1545Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/989235",
        "RCV": [
          "RCV001526686"
        ],
        "variationId": 989235
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.76910646G>A?assembly=hg19",
        "id": "chr11:g.76910646G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.77199601G>A?assembly=hg38",
        "id": "chr11:g.77199601G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/918353878",
        "rs": 918353878
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 77199601,
          "referenceAllele": "G",
          "start": 77199600
        }
      ],
      "hgvs": [
        "NC_000011.10:g.77199601G>A",
        "CM000673.2:g.77199601G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 76910646,
          "referenceAllele": "G",
          "start": 76910645
        }
      ],
      "hgvs": [
        "NC_000011.9:g.76910646G>A",
        "CM000673.1:g.76910646G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 76588294,
          "referenceAllele": "G",
          "start": 76588293
        }
      ],
      "hgvs": [
        "NC_000011.8:g.76588294G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76337,
          "referenceAllele": "G",
          "start": 76336
        }
      ],
      "hgvs": [
        "NG_009086.1:g.76337G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001419"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 76356,
          "referenceAllele": "G",
          "start": 76355
        }
      ],
      "hgvs": [
        "NG_009086.2:g.76356G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706092"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4925,
          "referenceAllele": "G",
          "start": 4924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.9:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Trp1545Ter",
        "hgvsWellDefined": "ENSP00000386331.3:p.Trp1545_Lys2215delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754325",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.4635G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.4635G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Trp1545Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Trp1545Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2476,
          "referenceAllele": "G",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000670577.1:c.2476G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4882,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4882,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409619.6:c.4536-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386635.2:n.4536-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281706"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4907,
          "referenceAllele": "G",
          "start": 4906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000409709.7:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000386331.3:p.Trp1545Ter",
        "hgvsWellDefined": "ENSP00000386331.3:p.Trp1545_Lys2215delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS281784"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2111,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 2111,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458169.2:c.2112-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000417017.2:n.2112-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4834,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4834,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000458637.6:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392185.2:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS304499"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2221,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 2221,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "ENST00000481328.7:n.2222-48G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321269"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230443",
      "coordinates": [
        {
          "allele": "A",
          "end": 4907,
          "referenceAllele": "G",
          "start": 4906
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.3:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Trp1545Ter",
        "hgvsWellDefined": "NP_000251.3:p.Trp1545_Lys2215delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4834,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4834,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.1:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011524"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4886,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4886,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_005274012.2:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274069.1:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067798"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4996,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4996,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718558.2:c.4677-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718621.1:n.4677-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072695"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4888,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4888,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718559.2:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718622.1:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072696"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4888,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4888,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718560.2:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718623.1:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4886,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4886,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_006718561.2:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006718624.1:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4955,
          "referenceAllele": "G",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.1:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Trp1545Ter",
        "hgvsWellDefined": "XP_011543346.1:p.Trp1545_Ser2228delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4996,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4996,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545045.1:c.4677-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543347.1:n.4677-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4637,
          "referenceAllele": "G",
          "start": 4636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.1:c.4602G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.1:p.Trp1534Ter",
        "hgvsWellDefined": "XP_011543348.1:p.Trp1534_Ser2217delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111953"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4906,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4906,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545047.1:c.4587-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543349.1:n.4587-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111954"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4777,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4777,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545048.1:c.4458-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543350.1:n.4458-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111955"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4765,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4765,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545049.1:c.4446-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543351.1:n.4446-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4546,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4546,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.1:c.4419-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:n.4419-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111957"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4955,
          "referenceAllele": "G",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545051.1:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543353.1:p.Trp1545Ter",
        "hgvsWellDefined": "XP_011543353.1:p.Trp1545_Phe2124delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4956,
          "referenceAllele": "G",
          "start": 4955
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545052.1:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543354.1:p.Trp1545Ter",
        "hgvsWellDefined": "XP_011543354.1:p.Trp1545_Pro1849delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleSerAlaSerCysSerProGluSerThrAlaHisSerProSerThrAlaCysAsnGlySerArgLysProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS111959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4955,
          "referenceAllele": "G",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949938.1:n.4955G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143251"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4955,
          "referenceAllele": "G",
          "start": 4954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949941.1:n.4955G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143252"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4957,
          "referenceAllele": "G",
          "start": 4956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_949942.1:n.4957G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS143253"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4979,
          "referenceAllele": "G",
          "start": 4978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545044.2:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543346.1:p.Trp1545Ter",
        "hgvsWellDefined": "XP_011543346.1:p.Trp1545_Ser2228delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555897"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545046.2:c.4725G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543348.2:p.Trp1575Ter",
        "hgvsWellDefined": "XP_011543348.2:p.Trp1575_Ser2258delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysValHisHisGlyLeuLeuArgAlaGluGluGluGlyAsnArgAlaLeuIleLysHisArgAspSerSerLeuGlyLeuTrpGluArgAlaMetAlaLeuAspThrCysProGlyGluGlyArgArgAlaAlaProSerAlaLeuSerGlnLeuSerValLeuAlaGlyValSerProGlyAspArgGlyThrArgArgSerSerAlaTrpGlnTrpArgGlnThrCysLysGlnAlaGlyValMetGluAspGlyLeuCysSerAspThrGlyGluProSerProArgTrpGlnSerSerGlyGlySerAlaGlyCysGluLysAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555898"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4635,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4635,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_011545050.2:c.4419-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543352.1:n.4419-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS555899"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4781,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4781,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017778.1:c.4767-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873267.1:n.4767-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569886"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4781,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4781,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017779.1:c.4767-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873268.1:n.4767-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569887"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017780.1:c.4725G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873269.1:p.Trp1575Ter",
        "hgvsWellDefined": "XP_016873269.1:p.Trp1575_Lys2245delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569888"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4691,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4691,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017781.1:c.4677-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873270.1:n.4677-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569889"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4673,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4673,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017782.1:c.4659-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873271.1:n.4659-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569890"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4673,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4673,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017783.1:c.4659-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873272.1:n.4659-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569891"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4673,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4673,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017784.1:c.4659-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873273.1:n.4659-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569892"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4550,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4550,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017785.1:c.4536-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873274.1:n.4536-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569893"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017786.1:c.4725G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873275.1:p.Trp1575Ter",
        "hgvsWellDefined": "XP_016873275.1:p.Trp1575_Phe2154delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysLeuGlyTrpGluAlaPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569894"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4673,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4673,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XM_017017788.1:c.4659-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873277.1:n.4659-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569896"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747885.1:n.4740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595975"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747886.1:n.4740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595976"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747887.1:n.4740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595977"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4740,
          "referenceAllele": "G",
          "start": 4739
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "XR_001747888.1:n.4740G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595978"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499230443",
      "coordinates": [
        {
          "allele": "A",
          "end": 4925,
          "referenceAllele": "G",
          "start": 4924
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_000260.4:c.4635G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_000251.3:p.Trp1545Ter",
        "hgvsWellDefined": "NP_000251.3:p.Trp1545_Lys2215delinsAlaGlyLeuThrProAlaGlyProCysSerProCysTrpSerCysArgGlyAlaLysThrThrAlaProSerPheThrLeuAlaThrIleLysGlyAspGluTyrThrPheThrSerSerAsnAlaGluAspIleArgAspLeuValValThrPheLeuGluGlyLeuArgLysArgSerLysTyrValValAlaLeuGlnAspAsnProAsnProAlaGlyGluGluSerGlyPheLeuSerPheAlaLysGlyAspLeuIleIleLeuAspHisAspThrGlyGluGlnValMetAsnSerGlyTrpAlaAsnGlyIleAsnGluArgThrLysGlnArgGlyAspPheProThrAspSerValTyrValMetProThrValThrMetProProArgGluIleValAlaLeuValThrMetThrProAspGlnArgGlnAspValValArgLeuLeuGlnLeuArgThrAlaGluProGluValArgAlaLysProTyrThrLeuGluGluPheSerTyrAspTyrPheArgProProProLysHisThrLeuSerArgValMetValSerLysAlaArgGlyLysAspArgLeuTrpSerHisThrArgGluProLeuLysGlnAlaLeuLeuLysLysLeuLeuGlySerGluGluLeuSerGlnGluAlaCysLeuAlaPheIleAlaValLeuLysTyrMetGlyAspTyrProSerLysArgThrArgSerValAsnGluLeuThrAspGlnIlePheGluGlyProLeuLysAlaGluProLeuLysAspGluAlaTyrValGlnIleLeuLysGlnLeuThrAspAsnHisIleArgTyrSerGluGluArgGlyTrpGluLeuLeuTrpLeuCysThrGlyLeuPheProProSerAsnIleLeuLeuProHisValGlnArgPheLeuGlnSerArgLysHisCysProLeuAlaIleAspCysLeuGlnArgLeuGlnLysAlaLeuArgAsnGlySerArgLysTyrProProHisLeuValGluValGluAlaIleGlnHisLysThrThrGlnIlePheHisLysValTyrPheProAspAspThrAspGluAlaPheGluValGluSerSerThrLysAlaLysAspPheCysGlnAsnIleAlaThrArgLeuLeuLeuLysSerSerGluGlyPheSerLeuPheValLysIleAlaAspLysValLeuSerValProGluAsnAspPhePhePheAspPheValArgHisLeuThrAspTrpIleLysLysAlaArgProIleLysAspGlyIleValProSerLeuThrTyrGlnValPhePheMetLysLysLeuTrpThrThrThrValProGlyLysAspProMetAlaAspSerIlePheHisTyrTyrGlnGluLeuProLysTyrLeuArgGlyTyrHisLysCysThrArgGluGluValLeuGlnLeuGlyAlaLeuIleTyrArgValLysPheGluGluAspLysSerTyrPheProSerIleProLysLeuLeuArgGluLeuValProGlnAspLeuIleArgGlnValSerProAspAspTrpLysArgSerIleValAlaTyrPheAsnLysHisAlaGlyLysSerLysGluGluAlaLysLeuAlaPheLeuLysLeuIlePheLysTrpProThrPheGlySerAlaPhePheGluValLysGlnThrThrGluProAsnPheProGluIleLeuLeuIleAlaIleAsnLysTyrGlyValSerLeuIleAspProLysThrLysAspIleLeuThrThrHisProPheThrLysIleSerAsnTrpSerSerGlyAsnThrTyrPheHisIleThrIleGlyAsnLeuValArgGlySerLysLeuLeuCysGluThrSerLeuGlyTyrLysMetAspAspLeuLeuThrSerTyrIleSerGlnMetLeuThrAlaMetSerLysGlnArgGlySerArgSerGlyLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662373",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000409709.9:c.4635G>A"
          },
          "RefSeq": {
            "hgvs": "NM_000260.4:c.4635G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000386331.3:p.Trp1545Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000251.3:p.Trp1545Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4858,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4858,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001127180.2:c.4569-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120652.1:n.4569-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676839"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 4938,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "G",
          "start": 4938,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007606",
      "geneNCBI_id": 4647,
      "geneSymbol": "MYO7A",
      "hgvs": [
        "NM_001369365.1:c.4536-48G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001356294.1:n.4536-48G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS691590"
    }
  ],
  "type": "nucleotide"
}