{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA325518",
  "communityStandardTitle": [
    "NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22146[alleleid]",
        "alleleId": 22146,
        "preferredName": "NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7107",
        "RCV": [
          "RCV000007526",
          "RCV000727628",
          "RCV001004456",
          "RCV001835623",
          "RCV002288473",
          "RCV002496294",
          "RCV003472999"
        ],
        "variationId": 7107
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-117199602-C-T",
        "id": "7-117199602-C-T",
        "variant": "7:117199602 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117199602C>T?assembly=hg19",
        "id": "chr7:g.117199602C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.117559548C>T?assembly=hg38",
        "id": "chr7:g.117559548C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/77101217",
        "rs": 77101217
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117199602-C-T?dataset=gnomad_r2_1",
        "id": "7-117199602-C-T",
        "variant": "7:117199602 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117559548-C-T?dataset=gnomad_r3",
        "id": "7-117559548-C-T",
        "variant": "7:117559548 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-117559548-C-T?dataset=gnomad_r4",
        "id": "7-117559548-C-T",
        "variant": "7:117559548 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117559548,
          "referenceAllele": "C",
          "start": 117559547
        }
      ],
      "hgvs": [
        "NC_000007.14:g.117559548C>T",
        "CM000669.2:g.117559548C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 117199602,
          "referenceAllele": "C",
          "start": 117199601
        }
      ],
      "hgvs": [
        "NC_000007.13:g.117199602C>T",
        "CM000669.1:g.117199602C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "T",
          "end": 116986838,
          "referenceAllele": "C",
          "start": 116986837
        }
      ],
      "hgvs": [
        "NC_000007.12:g.116986838C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 98765,
          "referenceAllele": "C",
          "start": 98764
        }
      ],
      "hgvs": [
        "NG_016465.4:g.98765C>T",
        "LRG_663:g.98765C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003205"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647720.2:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497673.2:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000497673.2:p.Gln493_His1196delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.2:c.*1191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*1191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.2:c.1294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Gln432Ter",
        "hgvsWellDefined": "ENSP00000497203.1:p.Gln432_Leu1419delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000685018.2:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510194.2:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000510194.2:p.Gln493_Ala1300delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906564"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000687278.2:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509593.2:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000509593.2:p.Gln493_Ser1180delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906570"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699585.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514456.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514456.1:p.Gln493_His1196delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyGlyProLeuGlyLysAsnTrpIleArgGluGluTyrPheValIleSerPhePheGluThrThrGluHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910468"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699596.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514465.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514465.1:p.Gln493_Phe536delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluValArgAsnTyrValLysThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1579,
          "referenceAllele": "C",
          "start": 1578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699597.1:c.*35C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514466.1:n.*35C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699598.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514467.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514467.1:p.Gln493_Cys1428delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuLysArgThrLysCysGlySerThrIleProSerArgAsnCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699599.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514468.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514468.1:p.Gln493_Ala1300delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLeuPhePheValProAlaSerValAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910479"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699600.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514469.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514469.1:p.Gln493_Ser1180delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuValValGlyPheGlySerPheSerHisProLeuThrValGlyLeuThrSerLysAspTyrPheLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910480"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699601.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514470.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514470.1:p.Gln493_Cys564delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaSerIleGlnArgCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910481"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1584,
          "referenceAllele": "C",
          "start": 1583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699602.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514471.1:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000514471.1:p.Gln493_Leu1478delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910482"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1559,
          "referenceAllele": "C",
          "start": 1558
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699604.1:c.*1301C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514472.1:n.*1301C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910484"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1473,
          "referenceAllele": "C",
          "start": 1472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000699605.1:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000514473.1:p.Gln351Ter",
        "hgvsWellDefined": "ENSP00000514473.1:p.Gln351_Leu1338delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS910485"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.11:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000003084.6:p.Gln493_Leu1480delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS739921",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1477C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1477C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Gln493Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Gln493Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1452,
          "referenceAllele": "C",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000647978.1:c.*1191C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497658.1:n.*1191C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000648260.1:c.1294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497957.1:p.Gln432Ter",
        "hgvsWellDefined": "ENSP00000497957.1:p.Gln432_Cys842delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS769868"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "C",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649406.1:c.1294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497965.1:p.Gln432Ter",
        "hgvsWellDefined": "ENSP00000497965.1:p.Gln432_Cys1187delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValArgPheGluHisCysLeuLeuCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000649781.1:c.1294C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000497203.1:p.Gln432Ter",
        "hgvsWellDefined": "ENSP00000497203.1:p.Gln432_Leu1419delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS770746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000003084.10:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000003084.6:p.Gln493Ter",
        "hgvsWellDefined": "ENSP00000003084.6:p.Gln493_Leu1480delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247433"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "ENST00000426809.5:c.1387C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000389119.1:p.Gln463Ter",
        "hgvsWellDefined": "ENSP00000389119.1:p.Gln463Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS289393"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.3:c.1477C>T",
        "LRG_663t1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Gln493Ter",
        "hgvsWellDefined": "NP_000483.3:p.Gln493_Leu1480delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515751.1:c.1567C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514053.1:p.Gln523Ter",
        "hgvsWellDefined": "XP_011514053.1:p.Gln523_Leu1510delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1609,
          "referenceAllele": "C",
          "start": 1608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515752.1:c.1567C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514054.1:p.Gln523Ter",
        "hgvsWellDefined": "XP_011514054.1:p.Gln523_Tyr1449delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuGlnLeuGlnPheTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1699,
          "referenceAllele": "C",
          "start": 1698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515753.1:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514055.1:p.Gln412Ter",
        "hgvsWellDefined": "XP_011514055.1:p.Gln412_Leu1399delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2617,
          "referenceAllele": "C",
          "start": 2616
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "XM_011515754.1:c.1234C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011514056.1:p.Gln412Ter",
        "hgvsWellDefined": "XP_011514056.1:p.Gln412_Leu1399delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS082965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 221,
          "endIntronDirection": "+",
          "endIntronOffset": 1185,
          "referenceAllele": "G",
          "start": 221,
          "startIntronDirection": "+",
          "startIntronOffset": 1184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN040144",
      "geneNCBI_id": 111082987,
      "geneSymbol": "CFTR-AS1",
      "hgvs": [
        "NR_149084.1:n.221+1185G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531527"
    },
    {
      "@id": "http://reg.genome.network/allele/PA325519",
      "coordinates": [
        {
          "allele": "T",
          "end": 1547,
          "referenceAllele": "C",
          "start": 1546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001884",
      "geneNCBI_id": 1080,
      "geneSymbol": "CFTR",
      "hgvs": [
        "NM_000492.4:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000483.3:p.Gln493Ter",
        "hgvsWellDefined": "NP_000483.3:p.Gln493_Leu1480delinsPheSerTrpIleMetProGlyThrIleLysGluAsnIleIlePheGlyValSerTyrAspGluTyrArgTyrArgSerValIleLysAlaCysGlnLeuGluGluAspIleSerLysPheAlaGluLysAspAsnIleValLeuGlyGluGlyGlyIleThrLeuSerGlyGlyGlnArgAlaArgIleSerLeuAlaArgAlaValTyrLysAspAlaAspLeuTyrLeuLeuAspSerProPheGlyTyrLeuAspValLeuThrGluLysGluIlePheGluSerCysValCysLysLeuMetAlaAsnLysThrArgIleLeuValThrSerLysMetGluHisLeuLysLysAlaAspLysIleLeuIleLeuHisGluGlySerSerTyrPheTyrGlyThrPheSerGluLeuGlnAsnLeuGlnProAspPheSerSerLysLeuMetGlyCysAspSerPheAspGlnPheSerAlaGluArgArgAsnSerIleLeuThrGluThrLeuHisArgPheSerLeuGluGlyAspAlaProValSerTrpThrGluThrLysLysGlnSerPheLysGlnThrGlyGluPheGlyGluLysArgLysAsnSerIleLeuAsnProIleAsnSerIleArgLysPheSerIleValGlnLysThrProLeuGlnMetAsnGlyIleGluGluAspSerAspGluProLeuGluArgArgLeuSerLeuValProAspSerGluGlnGlyGluAlaIleLeuProArgIleSerValIleSerThrGlyProThrLeuGlnAlaArgArgArgGlnSerValLeuAsnLeuMetThrHisSerValAsnGlnGlyGlnAsnIleHisArgLysThrThrAlaSerThrArgLysValSerLeuAlaProGlnAlaAsnLeuThrGluLeuAspIleTyrSerArgArgLeuSerGlnGluThrGlyLeuGluIleSerGluGluIleAsnGluGluAspLeuLysGluCysPhePheAspAspMetGluSerIleProAlaValThrThrTrpAsnThrTyrLeuArgTyrIleThrValHisLysSerLeuIlePheValLeuIleTrpCysLeuValIlePheLeuAlaGluValAlaAlaSerLeuValValLeuTrpLeuLeuGlyAsnThrProLeuGlnAspLysGlyAsnSerThrHisSerArgAsnAsnSerTyrAlaValIleIleThrSerThrSerSerTyrTyrValPheTyrIleTyrValGlyValAlaAspThrLeuLeuAlaMetGlyPhePheArgGlyLeuProLeuValHisThrLeuIleThrValSerLysIleLeuHisHisLysMetLeuHisSerValLeuGlnAlaProMetSerThrLeuAsnThrLeuLysAlaGlyGlyIleLeuAsnArgPheSerLysAspIleAlaIleLeuAspAspLeuLeuProLeuThrIlePheAspPheIleGlnLeuLeuLeuIleValIleGlyAlaIleAlaValValAlaValLeuGlnProTyrIlePheValAlaThrValProValIleValAlaPheIleMetLeuArgAlaTyrPheLeuGlnThrSerGlnGlnLeuLysGlnLeuGluSerGluGlyArgSerProIlePheThrHisLeuValThrSerLeuLysGlyLeuTrpThrLeuArgAlaPheGlyArgGlnProTyrPheGluThrLeuPheHisLysAlaLeuAsnLeuHisThrAlaAsnTrpPheLeuTyrLeuSerThrLeuArgTrpPheGlnMetArgIleGluMetIlePheValIlePhePheIleAlaValThrPheIleSerIleLeuThrThrGlyGluGlyGluGlyArgValGlyIleIleLeuThrLeuAlaMetAsnIleMetSerThrLeuGlnTrpAlaValAsnSerSerIleAspValAspSerLeuMetArgSerValSerArgValPheLysPheIleAspMetProThrGluGlyLysProThrLysSerThrLysProTyrLysAsnGlyGlnLeuSerLysValMetIleIleGluAsnSerHisValLysLysAspAspIleTrpProSerGlyGlyGlnMetThrValLysAspLeuThrAlaLysTyrThrGluGlyGlyAsnAlaIleLeuGluAsnIleSerPheSerIleSerProGlyGlnArgValGlyLeuLeuGlyArgThrGlySerGlyLysSerThrLeuLeuSerAlaPheLeuArgLeuLeuAsnThrGluGlyGluIleGlnIleAspGlyValSerTrpAspSerIleThrLeuGlnGlnTrpArgLysAlaPheGlyValIleProGlnLysValPheIlePheSerGlyThrPheArgLysAsnLeuAspProTyrGluGlnTrpSerAspGlnGluIleTrpLysValAlaAspGluValGlyLeuArgSerValIleGluGlnPheProGlyLysLeuAspPheValLeuValAspGlyGlyCysValLeuSerHisGlyHisLysGlnLeuMetCysLeuAlaArgSerValLeuSerLysAlaLysIleLeuLeuLeuAspGluProSerAlaHisLeuAspProValThrTyrGlnIleIleArgArgThrLeuLysGlnAlaPheAlaAspCysThrValIleLeuCysGluHisArgIleGluAlaMetLeuGluCysGlnGlnPheLeuValIleGluGluAsnLysValArgGlnTyrAspSerIleGlnLysLeuLeuAsnGluArgSerLeuPheArgGlnAlaIleSerProSerAspArgValLysLeuPheProHisArgAsnSerSerLysCysLysSerLysProGlnIleAlaAlaLeuLysGluGluThrGluGluGluValGlnAspThrArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674867",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000003084.11:c.1477C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000492.4:c.1477C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000003084.6:p.Gln493Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000483.3:p.Gln493Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}