{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401239567",
  "communityStandardTitle": [
    "NM_152468.5(TMC8):c.175C>T (p.Gln59Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=646811[alleleid]",
        "alleleId": 646811,
        "preferredName": "NM_152468.5(TMC8):c.175C>T (p.Gln59Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/653590",
        "RCV": [
          "RCV002234348"
        ],
        "variationId": 653590
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.76127988C>T?assembly=hg19",
        "id": "chr17:g.76127988C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78131907C>T?assembly=hg38",
        "id": "chr17:g.78131907C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1598895511",
        "rs": 1598895511
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78131907-C-T?dataset=gnomad_r3",
        "id": "17-78131907-C-T",
        "variant": "17:78131907 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78131907-C-T?dataset=gnomad_r4",
        "id": "17-78131907-C-T",
        "variant": "17:78131907 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78131907,
          "referenceAllele": "C",
          "start": 78131906
        }
      ],
      "hgvs": [
        "NC_000017.11:g.78131907C>T",
        "CM000679.2:g.78131907C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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          "end": 76127988,
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          "start": 76127987
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "A",
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          "start": 5500
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      ],
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        "NG_007879.1:g.5501G>A",
        "LRG_118:g.5501G>A"
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      "referenceSequence": "http://reg.genome.network/refseq/RS000687"
    },
    {
      "coordinates": [
        {
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          "end": 6130,
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        }
      ],
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        "LRG_119:g.6130C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000689"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "ENST00000318430.10:c.175C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000325561.4:p.Gln59_Leu726delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS746217",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000318430.10:c.175C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152468.5:c.175C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000325561.4:p.Gln59Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689681.2:p.Gln59Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
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      ],
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      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000325561.4:p.Gln59_Leu726delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257533"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 67,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
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          "startIntronOffset": 433
        }
      ],
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      "geneNCBI_id": 11322,
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS258141"
    },
    {
      "coordinates": [
        {
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          "endIntronDirection": "-",
          "endIntronOffset": 451,
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          "startIntronDirection": "-",
          "startIntronOffset": 452
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      ],
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS391672"
    },
    {
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        {
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS392445"
    },
    {
      "coordinates": [
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          "endIntronDirection": "+",
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        }
      ],
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      "proteinEffect": {
        "hgvs": "NP_009198.4:n.-75+434G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032188"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916050526",
      "coordinates": [
        {
          "allele": "T",
          "end": 557,
          "referenceAllele": "C",
          "start": 556
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
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      "geneSymbol": "TMC8",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_689681.2:p.Gln59_Leu726delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011522704.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_011522704.1:p.Gln59_Leu738delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091527"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_011524403.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522705.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_011522705.1:p.Gln59_Leu734delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091528"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_011524404.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522706.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_011522706.1:p.Gln59_Leu730delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2458,
          "endIntronDirection": "+",
          "endIntronOffset": 170,
          "referenceAllele": "C",
          "start": 2458,
          "startIntronDirection": "+",
          "startIntronOffset": 169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_011524405.1:c.149+170C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522707.1:n.149+170C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091530"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_011524406.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522708.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_011522708.1:p.Gln59_Leu699delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
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      "hgvs": [
        "XM_011524409.1:c.175C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011522711.1:p.Gln59_Ile430delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuAlaAlaGluGluArgArgSerSerProAlaValArgIleLeuLysArgProGlnAlaSerProProGlnGlyLeuLeuHisValProLeuHisThrArgHisGluGlyThrTrpLeuAspCysAlaValPheLeuLysLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
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      "hgvs": [
        "XM_011524410.1:c.175C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011522712.1:p.Gln59_Leu412delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuValArgGlyAlaGluAlaGlyGlnLeuGlyAspValLeuArgLeuProGlySerAspHisThrValHisTrpGlnArgGlnGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS091536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_934395.1:n.2484C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS129736"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
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      "hgvs": [
        "XR_934397.1:n.2484C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS129737"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
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        "XR_934398.1:n.2484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129738"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2484,
          "referenceAllele": "C",
          "start": 2483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_934400.1:n.2484C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129739"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 87,
          "endIntronDirection": "+",
          "endIntronOffset": 434,
          "referenceAllele": "G",
          "start": 87,
          "startIntronDirection": "+",
          "startIntronOffset": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018021",
      "geneNCBI_id": 11322,
      "geneSymbol": "TMC6",
      "hgvs": [
        "NM_007267.7:c.-75+434G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009198.4:n.-75+434G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2037,
          "referenceAllele": "C",
          "start": 2036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS574844"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450617.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306385.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306385.1:p.Gln59_Leu738delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584151"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450618.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306386.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306386.1:p.Gln59_Leu737delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450619.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306387.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306387.1:p.Gln59_Leu734delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450620.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306388.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306388.1:p.Gln59_Leu730delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450621.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306389.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306389.1:p.Gln59_Leu714delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450622.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306390.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306390.1:p.Gln59_Leu706delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450623.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306391.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306391.1:p.Gln59_Leu699delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450624.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306392.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306392.1:p.Gln59_Glu491delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerLeuLeuGlyGluLeuArgGlyGlyGlyAlaValGlnAlaGluTyrLeuGlnLeuProProHisArgGlyLeuArgLeuProGlyHisProAlaSerGluAlaAlaGlyGlyProValLeuArgProValLeuGlyLeuAlaGlyThrGlyGlyValProGlyProGlnGluCysAlaGlyHisArgGlyGlyAlaAspGlyHisLeuAspGlyProLeuLeuLeuProProAlaAlaProAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450625.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306393.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306393.1:p.Gln59_Ile430delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuAlaAlaGluGluArgArgSerSerProAlaValArgIleLeuLysArgProGlnAlaSerProProGlnGlyLeuLeuHisValProLeuHisThrArgHisGluGlyThrTrpLeuAspCysAlaValPheLeuLysLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450626.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306394.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306394.1:p.Gln59_Leu412delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuValArgGlyAlaGluAlaGlyGlnLeuGlyAspValLeuArgLeuProGlySerAspHisThrValHisTrpGlnArgGlnGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450627.1:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306395.1:p.Gln59Ter",
        "hgvsWellDefined": "XP_024306395.1:p.Gln59_Ser393delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpArgArgArgLysGlyGlyAlaArgLeuGlnSerGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957973.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957974.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957975.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957976.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957977.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957978.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 256,
          "referenceAllele": "C",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957979.1:n.256C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916050526",
      "coordinates": [
        {
          "allele": "T",
          "end": 564,
          "referenceAllele": "C",
          "start": 563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "NM_152468.5:c.175C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689681.2:p.Gln59Ter",
        "hgvsWellDefined": "NP_689681.2:p.Gln59_Leu726delinsThrLeuArgTrpGlnArgTrpGlnArgArgArgGlnThrValGluArgArgLeuArgGluAlaAlaGlnArgLeuAlaArgGlyLeuGlyLeuTrpGluGlyAlaLeuTyrGluIleGlyGlyLeuPheGlyThrGlyIleArgSerTyrPheThrPheLeuArgPheLeuLeuLeuLeuAsnLeuLeuSerLeuLeuLeuThrAlaSerPheValLeuLeuProLeuValTrpLeuArgProProAspProGlyProThrLeuAsnLeuThrLeuGlnCysProGlySerArgGlnSerProProGlyValLeuArgPheHisAsnGlnLeuTrpHisValLeuThrGlyArgAlaPheThrAsnThrTyrLeuPheTyrGlyAlaTyrArgValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318430.10:c.175C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152468.5:c.175C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325561.4:p.Gln59Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689681.2:p.Gln59Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}