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      "referenceSequence": "http://reg.genome.network/refseq/RS091534"
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        {
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      "proteinEffect": {
        "hgvs": "XP_024306386.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306386.1:p.Arg190_Leu737delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450619.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306387.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306387.1:p.Arg190_Leu734delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584153"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450620.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306388.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306388.1:p.Arg190_Leu730delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584154"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450621.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306389.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306389.1:p.Arg190_Leu714delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584155"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450622.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306390.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306390.1:p.Arg190_Leu706delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584156"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450623.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306391.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306391.1:p.Arg190_Leu699delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerProThrTrpProSerLeuAlaSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584157"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450624.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306392.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306392.1:p.Arg190_Glu491delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerLeuLeuGlyGluLeuArgGlyGlyGlyAlaValGlnAlaGluTyrLeuGlnLeuProProHisArgGlyLeuArgLeuProGlyHisProAlaSerGluAlaAlaGlyGlyProValLeuArgProValLeuGlyLeuAlaGlyThrGlyGlyValProGlyProGlnGluCysAlaGlyHisArgGlyGlyAlaAspGlyHisLeuAspGlyProLeuLeuLeuProProAlaAlaProAlaGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584158"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450625.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306393.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306393.1:p.Arg190_Ile430delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuAlaAlaGluGluArgArgSerSerProAlaValArgIleLeuLysArgProGlnAlaSerProProGlnGlyLeuLeuHisValProLeuHisThrArgHisGluGlyThrTrpLeuAspCysAlaValPheLeuLysLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450626.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306394.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306394.1:p.Arg190_Leu412delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluValSerGlyValProValSerAlaAlaProValProAlaProTrpGlyHisArgProGlyGlnLeuProGlySerProAlaValHisIleSerGlyProAlaGlyGluLeuProSerGlnHisGlyGlyGlnProHisSerAspLeuValArgGlyAlaGluAlaGlyGlnLeuGlyAspValLeuArgLeuProGlySerAspHisThrValHisTrpGlnArgGlnGluGlnLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XM_024450627.1:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306395.1:p.Arg190Ter",
        "hgvsWellDefined": "XP_024306395.1:p.Arg190_Ser393delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValCysAlaArgValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpArgArgArgLysGlyGlyAlaArgLeuGlnSerGlySerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957973.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957974.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957975.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957976.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957977.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957978.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "XR_002957979.1:n.649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS604107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499298810",
      "coordinates": [
        {
          "allele": "T",
          "end": 957,
          "referenceAllele": "C",
          "start": 956
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020474",
      "geneNCBI_id": 147138,
      "geneSymbol": "TMC8",
      "hgvs": [
        "NM_152468.5:c.568C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_689681.2:p.Arg190Ter",
        "hgvsWellDefined": "NP_689681.2:p.Arg190_Leu726delinsValGlyProGluSerSerSerValTyrSerIleArgLeuAlaTyrLeuLeuSerProLeuAlaCysLeuLeuLeuCysPheCysGlyThrLeuArgArgMetValLysGlyLeuProGlnLysThrLeuLeuGlyGlnGlyTyrGlnAlaProLeuSerAlaLysValPheSerSerTrpAspPheCysIleArgValGlnGluAlaAlaThrIleLysLysHisGluIleSerAsnGluPheLysValGluLeuGluGluGlyArgArgPheGlnLeuMetGlnGlnGlnThrArgAlaGlnThrAlaCysArgLeuLeuSerTyrLeuArgValAsnValLeuAsnGlyLeuLeuValValGlyAlaIleSerAlaIlePheTrpAlaThrLysTyrSerGlnAspAsnLysGluGluSerLeuPheLeuLeuLeuGlnTyrLeuProProGlyValIleAlaLeuValAsnPheLeuGlyProLeuLeuPheThrPheLeuValGlnLeuGluAsnTyrProProAsnThrGluValAsnLeuThrLeuIleTrpCysValValLeuLysLeuAlaSerLeuGlyMetPheSerValSerLeuGlyGlnThrIleLeuCysIleGlyArgAspLysSerSerCysGluSerTyrGlyTyrAsnValCysAspTyrGlnCysTrpGluAsnSerValGlyGluGluLeuTyrLysLeuSerIlePheAsnPheLeuLeuThrValAlaPheAlaPheLeuValThrLeuProArgArgLeuLeuValAspArgPheSerGlyArgPheTrpAlaTrpLeuGluArgGluGluPheLeuValProLysAsnValLeuAspIleValAlaGlyGlnThrValThrTrpMetGlyLeuPheTyrCysProLeuLeuProLeuLeuAsnSerValPheLeuPheLeuThrPheTyrIleLysLysTyrThrLeuLeuLysAsnSerArgAlaSerSerArgProPheArgAlaSerSerSerThrPhePhePheGlnLeuValLeuLeuLeuGlyLeuLeuLeuAlaAlaValProLeuGlyTyrValValSerSerIleHisSerSerTrpAspCysGlyLeuPheThrAsnTyrSerAlaProTrpGlnValValProGluLeuValAlaLeuGlyLeuProProIleGlyGlnArgAlaLeuHisTyrLeuGlySerHisAlaPheSerPheProLeuLeuIleMetLeuSerLeuValLeuThrValCysValSerGlnThrGlnAlaAsnAlaArgAlaIleHisArgLeuArgLysGlnLeuValTrpGlnValGlnGluLysTrpHisLeuValGluAspLeuSerArgLeuLeuProGluProGlyProSerAspSerProGlyProLysTyrProAlaSerGlnAlaSerArgProGlnSerPheCysProGlyCysProCysProGlySerProGlyHisGlnAlaProArgProGlyProSerValValAspAlaAlaGlyLeuArgSerProCysProGlyGlnHisGlyAlaProAlaSerAlaArgArgPheArgPheProSerGlyAlaGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700186",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000318430.10:c.568C>T"
          },
          "RefSeq": {
            "hgvs": "NM_152468.5:c.568C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000325561.4:p.Arg190Ter"
          },
          "RefSeq": {
            "hgvs": "NP_689681.2:p.Arg190Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}