{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394333171",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=962748[alleleid]",
        "alleleId": 962748,
        "preferredName": "NM_001009944.3(PKD1):c.11457C>G (p.Tyr3819Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/974534",
        "RCV": [
          "RCV001281312"
        ],
        "variationId": 974534
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2141862G>C?assembly=hg19",
        "id": "chr16:g.2141862G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2091861G>C?assembly=hg38",
        "id": "chr16:g.2091861G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199476098",
        "rs": 199476098
      }
    ]
  },
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      "chromosome": "16",
      "coordinates": [
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          "end": 2091861,
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          "start": 2091860
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        "CM000678.2:g.2091861G>C"
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "16",
      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
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        }
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      "referenceGenome": "NCBI36",
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    },
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        "NG_008617.1:g.51360C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
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      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          },
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            "hgvs": "NM_001009944.3:c.11457C>G"
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            "hgvs": "NP_001009944.3:p.Tyr3819Ter"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
          "start": 11662
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      "geneNCBI_id": 5310,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000399501.1:p.Tyr3818_Thr4302delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
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          "start": 445
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS324229"
    },
    {
      "coordinates": [
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS326372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 6,
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          "startIntronDirection": "-",
          "startIntronOffset": 7
        }
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      "referenceSequence": "http://reg.genome.network/refseq/RS376264"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN009008",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS376786"
    },
    {
      "coordinates": [
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          "start": 152
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      "gene": "http://reg.genome.network/gene/GN009008",
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      "referenceSequence": "http://reg.genome.network/refseq/RS378005"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119377",
      "coordinates": [
        {
          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN009008",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA119378",
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        {
          "allele": "G",
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        "hgvsWellDefined": "NP_001009944.2:p.Tyr3819_Thr4303delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        "hgvsWellDefined": "XP_005255427.1:p.Tyr2804_Thr3288delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11550,
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011520827.1:p.Tyr3845Ter",
        "hgvsWellDefined": "XP_011520827.1:p.Tyr3845_Thr4329delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11547,
          "referenceAllele": "C",
          "start": 11546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.11532C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:p.Tyr3844Ter",
        "hgvsWellDefined": "XP_011520828.1:p.Tyr3844_Thr4328delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11532,
          "referenceAllele": "C",
          "start": 11531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.11517C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:p.Tyr3839Ter",
        "hgvsWellDefined": "XP_011520829.1:p.Tyr3839_Thr4323delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11526,
          "referenceAllele": "C",
          "start": 11525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.11511C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Tyr3837Ter",
        "hgvsWellDefined": "XP_011520830.1:p.Tyr3837_Thr4321delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11523,
          "referenceAllele": "C",
          "start": 11522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.11508C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Tyr3836Ter",
        "hgvsWellDefined": "XP_011520831.1:p.Tyr3836_Thr4320delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11688,
          "referenceAllele": "C",
          "start": 11687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.11481C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:p.Tyr3827Ter",
        "hgvsWellDefined": "XP_011520832.1:p.Tyr3827_Thr4311delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11478,
          "referenceAllele": "C",
          "start": 11477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.11463C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:p.Tyr3821Ter",
        "hgvsWellDefined": "XP_011520833.1:p.Tyr3821_Thr4305delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11616,
          "referenceAllele": "C",
          "start": 11615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.11409C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:p.Tyr3803Ter",
        "hgvsWellDefined": "XP_011520834.1:p.Tyr3803_Thr4287delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11343,
          "referenceAllele": "C",
          "start": 11342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.11328C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:p.Tyr3776Ter",
        "hgvsWellDefined": "XP_011520835.1:p.Tyr3776_Thr4260delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11292,
          "referenceAllele": "C",
          "start": 11291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522534.1:c.11271C>G"
      ],
      "proteinEffect": {
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    },
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS089688"
    },
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS528096"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534274"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
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        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546644"
    },
    {
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        {
          "allele": "G",
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      "proteinEffect": {
        "hgvs": "XP_024306066.1:p.Tyr3859Ter",
        "hgvsWellDefined": "XP_024306066.1:p.Tyr3859_Thr4343delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11520,
          "referenceAllele": "C",
          "start": 11519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.11505C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:p.Tyr3835Ter",
        "hgvsWellDefined": "XP_024306067.1:p.Tyr3835_Thr4319delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11578,
          "referenceAllele": "C",
          "start": 11577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.11367C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:p.Tyr3789Ter",
        "hgvsWellDefined": "XP_024306068.1:p.Tyr3789_Thr4273delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9809,
          "referenceAllele": "C",
          "start": 9808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450301.1:c.9453C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306069.1:p.Tyr3151Ter",
        "hgvsWellDefined": "XP_024306069.1:p.Tyr3151_Thr3635delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825111717",
      "coordinates": [
        {
          "allele": "G",
          "end": 11663,
          "referenceAllele": "C",
          "start": 11662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.11454C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:p.Tyr3818Ter",
        "hgvsWellDefined": "NP_000287.4:p.Tyr3818_Thr4302delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956142",
      "coordinates": [
        {
          "allele": "G",
          "end": 11666,
          "referenceAllele": "C",
          "start": 11665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.11457C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:p.Tyr3819Ter",
        "hgvsWellDefined": "NP_001009944.3:p.Tyr3819_Thr4303delinsValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.11457C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.11457C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Tyr3819Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Tyr3819Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}