{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5184037",
  "communityStandardTitle": [
    "NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4994409",
        "active": true,
        "id": "COSM4994409"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4994410",
        "active": true,
        "id": "COSM4994410"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4994411",
        "active": true,
        "id": "COSM4994411"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=835371[alleleid]",
        "alleleId": 835371,
        "preferredName": "NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/849716",
        "RCV": [
          "RCV001053740"
        ],
        "variationId": 849716
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-113459614-C-T",
        "id": "9-113459614-C-T",
        "variant": "9:113459614 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.113459614C>T?assembly=hg19",
        "id": "chr9:g.113459614C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.110697334C>T?assembly=hg38",
        "id": "chr9:g.110697334C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/763656507",
        "rs": 763656507
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-113459614-C-T?dataset=gnomad_r2_1",
        "id": "9-113459614-C-T",
        "variant": "9:113459614 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110697334-C-T?dataset=gnomad_r3",
        "id": "9-110697334-C-T",
        "variant": "9:110697334 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-110697334-C-T?dataset=gnomad_r4",
        "id": "9-110697334-C-T",
        "variant": "9:110697334 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 110697334,
          "referenceAllele": "C",
          "start": 110697333
        }
      ],
      "hgvs": [
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        "CM000671.2:g.110697334C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 113459614,
          "referenceAllele": "C",
          "start": 113459613
        }
      ],
      "hgvs": [
        "NC_000009.11:g.113459614C>T",
        "CM000671.1:g.113459614C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 112499435,
          "referenceAllele": "C",
          "start": 112499434
        }
      ],
      "hgvs": [
        "NC_000009.10:g.112499435C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33564,
          "referenceAllele": "C",
          "start": 33563
        }
      ],
      "hgvs": [
        "NG_016016.1:g.33564C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 33544,
          "referenceAllele": "C",
          "start": 33543
        }
      ],
      "hgvs": [
        "NG_016016.2:g.33544C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS706116"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.9:c.496C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000363571.4:p.Arg166_Val869delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS751439",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.496C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.496C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Arg166Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Arg166Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000189978.10:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000189978.6:p.Arg166Ter",
        "hgvsWellDefined": "ENSP00000189978.6:p.Arg166_Val783delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 190,
          "referenceAllele": "C",
          "start": 189
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374439.1:c.190C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363562.2:p.Arg64Ter",
        "hgvsWellDefined": "ENSP00000363562.2:p.Arg64_Ile132delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGlyAlaLysGlyIleHisThrGlnPheValAlaSerAlaLeuGlnLeuArgSerPheLeuSerCysProGlnIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374440.7:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363563.4:p.Arg166Ter",
        "hgvsWellDefined": "ENSP00000363563.4:p.Arg166_Val783delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaAspPheArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270246"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000374448.8:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000363571.4:p.Arg166Ter",
        "hgvsWellDefined": "ENSP00000363571.4:p.Arg166_Val869delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 622,
          "referenceAllele": "C",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "ENST00000416899.7:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393608.3:p.Arg166Ter",
        "hgvsWellDefined": "ENSP00000393608.3:p.Arg166_Val861delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS284670"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029015",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.1:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Arg166Ter",
        "hgvsWellDefined": "NP_001159752.1:p.Arg166_Val783delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029450",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.1:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Arg166Ter",
        "hgvsWellDefined": "NP_001159753.1:p.Arg166_Val773delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139700417",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.3:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Arg166Ter",
        "hgvsWellDefined": "NP_005583.1:p.Arg166_Val869delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030680"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.2:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_005252051.1:p.Arg166_Val879delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059776"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.2:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_005252052.1:p.Arg166_Val871delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059777"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 855,
          "referenceAllele": "C",
          "start": 854
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.2:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_005252053.1:p.Arg166_Val861delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 856,
          "referenceAllele": "C",
          "start": 855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_011518707.1:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517009.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_011517009.1:p.Arg166_Val889delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluAlaLeuAsnIleThrAsnAlaThrGluArgGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251994.3:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252051.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_005252051.1:p.Arg166_Val879delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1211,
          "referenceAllele": "C",
          "start": 1210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251995.3:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252052.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_005252052.1:p.Arg166_Val871delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_005251996.3:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252053.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_005252053.1:p.Arg166_Val861delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "XM_017014734.1:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016870223.1:p.Arg166Ter",
        "hgvsWellDefined": "XP_016870223.1:p.Arg166_Val791delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567617"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029015",
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166280.2:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159752.1:p.Arg166Ter",
        "hgvsWellDefined": "NP_001159752.1:p.Arg166_Val783delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluGluGluSerGluProGluGlnAspThrLysValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678482"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826029450",
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_001166281.2:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001159753.1:p.Arg166Ter",
        "hgvsWellDefined": "NP_001159753.1:p.Arg166_Val773delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAlaPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678483"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139700417",
      "coordinates": [
        {
          "allele": "T",
          "end": 610,
          "referenceAllele": "C",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007525",
      "geneNCBI_id": 4593,
      "geneSymbol": "MUSK",
      "hgvs": [
        "NM_005592.4:c.496C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005583.1:p.Arg166Ter",
        "hgvsWellDefined": "NP_005583.1:p.Arg166_Val869delinsIleAlaValLeuGluSerGlySerLeuArgIleHisAsnValGlnLysGluAspAlaGlyGlnTyrArgCysValAlaLysAsnSerLeuGlyThrAlaTyrSerLysValValLysLeuGluValGluValPheAlaArgIleLeuArgAlaProGluSerHisAsnValThrPheGlySerPheValThrLeuHisCysThrAlaThrGlyIleProValProThrIleThrTrpIleGluAsnGlyAsnAlaValSerSerGlySerIleGlnGluSerValLysAspArgValIleAspSerArgLeuGlnLeuPheIleThrLysProGlyLeuTyrThrCysIleAlaThrAsnLysHisGlyGluLysPheSerThrAlaLysAlaAlaAlaThrIleSerIleAlaGluTrpSerLysProGlnLysAspAsnLysGlyTyrCysAlaGlnTyrArgGlyGluValCysAsnAlaValLeuAlaLysAspAlaLeuValPheLeuAsnThrSerTyrAlaAspProGluGluAlaGlnGluLeuLeuValHisThrAlaTrpAsnGluLeuLysValValSerProValCysArgProAlaAlaGluAlaLeuLeuCysAsnHisIlePheGlnGluCysSerProGlyValValProThrProIleProIleCysArgGluTyrCysLeuAlaValLysGluLeuPheCysAlaLysGluTrpLeuValMetGluGluLysThrHisArgGlyLeuTyrArgSerGluMetHisLeuLeuSerValProGluCysSerLysLeuProSerMetHisTrpAspProThrAlaCysAlaArgLeuProHisLeuAspTyrAsnLysGluAsnLeuLysThrPheProProMetThrSerSerLysProSerValAspIleProAsnLeuProSerSerSerSerSerSerPheSerValSerProThrTyrSerMetThrValIleIleSerIleMetSerSerPheAlaIlePheValLeuLeuThrIleThrThrLeuTyrCysCysArgArgArgLysGlnTrpLysAsnLysLysArgGluSerAlaAlaValThrLeuThrThrLeuProSerGluLeuLeuLeuAspArgLeuHisProAsnProMetTyrGlnArgMetProLeuLeuLeuAsnProLysLeuLeuSerLeuGluTyrProArgAsnAsnIleGluTyrValArgAspIleGlyGluGlyAlaPheGlyArgValPheGlnAlaArgAlaProGlyLeuLeuProTyrGluProPheThrMetValAlaValLysMetLeuLysGluGluAlaSerAlaAspMetGlnAlaAspPheGlnArgGluAlaAlaLeuMetAlaGluPheAspAsnProAsnIleValLysLeuLeuGlyValCysAlaValGlyLysProMetCysLeuLeuPheGluTyrMetAlaTyrGlyAspLeuAsnGluPheLeuArgSerMetSerProHisThrValCysSerLeuSerHisSerAspLeuSerMetArgAlaGlnValSerSerProGlyProProProLeuSerCysAlaGluGlnLeuCysIleAlaArgGlnValAlaAlaGlyMetAlaTyrLeuSerGluArgLysPheValHisArgAspLeuAlaThrArgAsnCysLeuValGlyGluAsnMetValValLysIleAlaAspPheGlyLeuSerArgAsnIleTyrSerAlaAspTyrTyrLysAlaAsnGluAsnAspAlaIleProIleArgTrpMetProProGluSerIlePheTyrAsnArgTyrThrThrGluSerAspValTrpAlaTyrGlyValValLeuTrpGluIlePheSerTyrGlyLeuGlnProTyrTyrGlyMetAlaHisGluGluValIleTyrTyrValArgAspGlyAsnIleLeuSerCysProGluAsnCysProValGluLeuTyrAsnLeuMetArgLeuCysTrpSerLysLeuProAlaAspArgProSerPheThrSerIleHisArgIleLeuGluArgMetCysGluArgAlaGluGlyThrValSerValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696468",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000374448.9:c.496C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005592.4:c.496C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000363571.4:p.Arg166Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005583.1:p.Arg166Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}