{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16609452",
  "communityStandardTitle": [
    "NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=384493[alleleid]",
        "alleleId": 384493,
        "preferredName": "NM_001009944.3(PKD1):c.11277C>G (p.Tyr3759Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/397604",
        "RCV": [
          "RCV000449600"
        ],
        "variationId": 397604
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2142182G>C?assembly=hg19",
        "id": "chr16:g.2142182G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.2092181G>C?assembly=hg38",
        "id": "chr16:g.2092181G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/369825780",
        "rs": 369825780
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2092181,
          "referenceAllele": "G",
          "start": 2092180
        }
      ],
      "hgvs": [
        "NC_000016.10:g.2092181G>C",
        "CM000678.2:g.2092181G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000064"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2142182,
          "referenceAllele": "G",
          "start": 2142181
        }
      ],
      "hgvs": [
        "NC_000016.9:g.2142182G>C",
        "CM000678.1:g.2142182G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000040"
    },
    {
      "chromosome": "16",
      "coordinates": [
        {
          "allele": "C",
          "end": 2082183,
          "referenceAllele": "G",
          "start": 2082182
        }
      ],
      "hgvs": [
        "NC_000016.8:g.2082183G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 51040,
          "referenceAllele": "C",
          "start": 51039
        }
      ],
      "hgvs": [
        "NG_008617.1:g.51040C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001129"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11486,
          "referenceAllele": "C",
          "start": 11485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.9:c.11277C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Tyr3759Ter",
        "hgvsWellDefined": "ENSP00000262304.4:p.Tyr3759_Thr4303delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742318",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.11277C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.11277C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Tyr3759Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Tyr3759Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11486,
          "referenceAllele": "C",
          "start": 11485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000262304.8:c.11277C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262304.4:p.Tyr3759Ter",
        "hgvsWellDefined": "ENSP00000262304.4:p.Tyr3759_Thr4303delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250982"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11483,
          "referenceAllele": "C",
          "start": 11482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000423118.5:c.11274C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399501.1:p.Tyr3758Ter",
        "hgvsWellDefined": "ENSP00000399501.1:p.Tyr3758_Thr4302delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 126,
          "referenceAllele": "C",
          "start": 125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000485120.1:n.126C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324229"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 5839,
          "referenceAllele": "C",
          "start": 5838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000487932.5:c.5839C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000457132.1:n.5839C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS326372"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000562425.1:c.390C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS376786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "ENST00000567355.1:n.440C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS380059"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11483,
          "referenceAllele": "C",
          "start": 11482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.3:c.11274C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.3:p.Tyr3758Ter",
        "hgvsWellDefined": "NP_000287.3:p.Tyr3758_Thr4302delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006357"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645471302",
      "coordinates": [
        {
          "allele": "G",
          "end": 11486,
          "referenceAllele": "C",
          "start": 11485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.2:c.11277C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.2:p.Tyr3759Ter",
        "hgvsWellDefined": "NP_001009944.2:p.Tyr3759_Thr4303delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008121"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8385,
          "referenceAllele": "C",
          "start": 8384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_005255370.2:c.8232C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005255427.1:p.Tyr2744Ter",
        "hgvsWellDefined": "XP_005255427.1:p.Tyr2744_Thr3288delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11370,
          "referenceAllele": "C",
          "start": 11369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522525.1:c.11355C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520827.1:p.Tyr3785Ter",
        "hgvsWellDefined": "XP_011520827.1:p.Tyr3785_Thr4329delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11367,
          "referenceAllele": "C",
          "start": 11366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522526.1:c.11352C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520828.1:p.Tyr3784Ter",
        "hgvsWellDefined": "XP_011520828.1:p.Tyr3784_Thr4328delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11352,
          "referenceAllele": "C",
          "start": 11351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522527.1:c.11337C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520829.1:p.Tyr3779Ter",
        "hgvsWellDefined": "XP_011520829.1:p.Tyr3779_Thr4323delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089678"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11346,
          "referenceAllele": "C",
          "start": 11345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522528.1:c.11331C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520830.1:p.Tyr3777Ter",
        "hgvsWellDefined": "XP_011520830.1:p.Tyr3777_Thr4321delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089679"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11343,
          "referenceAllele": "C",
          "start": 11342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522529.1:c.11328C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Tyr3776Ter",
        "hgvsWellDefined": "XP_011520831.1:p.Tyr3776_Thr4320delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089680"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11508,
          "referenceAllele": "C",
          "start": 11507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522530.1:c.11301C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520832.1:p.Tyr3767Ter",
        "hgvsWellDefined": "XP_011520832.1:p.Tyr3767_Thr4311delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089681"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11298,
          "referenceAllele": "C",
          "start": 11297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522531.1:c.11283C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520833.1:p.Tyr3761Ter",
        "hgvsWellDefined": "XP_011520833.1:p.Tyr3761_Thr4305delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089682"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11436,
          "referenceAllele": "C",
          "start": 11435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522532.1:c.11229C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520834.1:p.Tyr3743Ter",
        "hgvsWellDefined": "XP_011520834.1:p.Tyr3743_Thr4287delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11163,
          "referenceAllele": "C",
          "start": 11162
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522533.1:c.11148C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520835.1:p.Tyr3716Ter",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089684"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11112,
          "referenceAllele": "C",
          "start": 11111
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089685"
    },
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      "coordinates": [
        {
          "allele": "G",
          "end": 9526,
          "referenceAllele": "C",
          "start": 9525
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089686"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8443,
          "referenceAllele": "C",
          "start": 8442
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089688"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11370,
          "referenceAllele": "C",
          "start": 11369
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
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      "referenceSequence": "http://reg.genome.network/refseq/RS128744"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11117,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN009008",
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      "referenceSequence": "http://reg.genome.network/refseq/RS128745"
    },
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      "coordinates": [
        {
          "allele": "G",
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      "referenceSequence": "http://reg.genome.network/refseq/RS128746"
    },
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      "coordinates": [
        {
          "allele": "G",
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      "gene": "http://reg.genome.network/gene/GN009008",
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      "referenceSequence": "http://reg.genome.network/refseq/RS128747"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 89,
          "endIntronDirection": "+",
          "endIntronOffset": 567,
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          "startIntronOffset": 566
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      ],
      "gene": "http://reg.genome.network/gene/GN056035",
      "geneNCBI_id": 105371049,
      "geneSymbol": "PKD1-AS1",
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      "referenceSequence": "http://reg.genome.network/refseq/RS128785"
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          "endIntronDirection": "+",
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      ],
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS128787"
    },
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    },
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        {
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      ],
      "gene": "http://reg.genome.network/gene/GN056035",
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      "referenceSequence": "http://reg.genome.network/refseq/RS528096"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9073,
          "referenceAllele": "C",
          "start": 9072
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      ],
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534274"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546642"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      "proteinEffect": {
        "hgvs": "XP_011520831.1:p.Tyr3776Ter",
        "hgvsWellDefined": "XP_011520831.1:p.Tyr3776_Thr4320delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546643"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 8444,
          "referenceAllele": "C",
          "start": 8443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_011522537.2:c.8355C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520839.1:p.Tyr2785Ter",
        "hgvsWellDefined": "XP_011520839.1:p.Tyr2785_Thr3329delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546644"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11412,
          "referenceAllele": "C",
          "start": 11411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450298.1:c.11397C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306066.1:p.Tyr3799Ter",
        "hgvsWellDefined": "XP_024306066.1:p.Tyr3799_Thr4343delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583838"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11340,
          "referenceAllele": "C",
          "start": 11339
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450299.1:c.11325C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306067.1:p.Tyr3775Ter",
        "hgvsWellDefined": "XP_024306067.1:p.Tyr3775_Thr4319delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583839"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11398,
          "referenceAllele": "C",
          "start": 11397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450300.1:c.11187C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306068.1:p.Tyr3729Ter",
        "hgvsWellDefined": "XP_024306068.1:p.Tyr3729_Thr4273delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583840"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9629,
          "referenceAllele": "C",
          "start": 9628
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "XM_024450301.1:c.9273C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024306069.1:p.Tyr3091Ter",
        "hgvsWellDefined": "XP_024306069.1:p.Tyr3091_Thr3635delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583841"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825111669",
      "coordinates": [
        {
          "allele": "G",
          "end": 11483,
          "referenceAllele": "C",
          "start": 11482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_000296.4:c.11274C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000287.4:p.Tyr3758Ter",
        "hgvsWellDefined": "NP_000287.4:p.Tyr3758_Thr4302delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674777"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915956127",
      "coordinates": [
        {
          "allele": "G",
          "end": 11486,
          "referenceAllele": "C",
          "start": 11485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009008",
      "geneNCBI_id": 5310,
      "geneSymbol": "PKD1",
      "hgvs": [
        "NM_001009944.3:c.11277C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001009944.3:p.Tyr3759Ter",
        "hgvsWellDefined": "NP_001009944.3:p.Tyr3759_Thr4303delinsProAspProProGlyProArgValHisThrCysSerAlaAlaGlyGlyPheSerThrSerAspTyrAspValGlyTrpGluSerProHisAsnGlySerGlyThrTrpAlaTyrSerAlaProAspLeuLeuGlyAlaTrpSerTrpGlySerCysAlaValTyrAspSerGlyGlyTyrValGlnGluLeuGlyLeuSerLeuGluGluSerArgAspArgLeuArgPheLeuGlnLeuHisAsnTrpLeuAspAsnArgSerArgAlaValPheLeuGluLeuThrArgTyrSerProAlaValGlyLeuHisAlaAlaValThrLeuArgLeuGluPheProAlaAlaGlyArgAlaLeuAlaAlaLeuSerValArgProPheAlaLeuArgArgLeuSerAlaGlyLeuSerLeuProLeuLeuThrSerValCysLeuLeuLeuPheAlaValHisPheAlaValAlaGluAlaArgThrTrpHisArgGluGlyArgTrpArgValLeuArgLeuGlyAlaTrpAlaArgTrpLeuLeuValAlaLeuThrAlaAlaThrAlaLeuValArgLeuAlaGlnLeuGlyAlaAlaAspArgGlnTrpThrArgPheValArgGlyArgProArgArgPheThrSerPheAspGlnValAlaGlnLeuSerSerAlaAlaArgGlyLeuAlaAlaSerLeuLeuPheLeuLeuLeuValLysAlaAlaGlnGlnLeuArgPheValArgGlnTrpSerValPheGlyLysThrLeuCysArgAlaLeuProGluLeuLeuGlyValThrLeuGlyLeuValValLeuGlyValAlaTyrAlaGlnLeuAlaIleLeuLeuValSerSerCysValAspSerLeuTrpSerValAlaGlnAlaLeuLeuValLeuCysProGlyThrGlyLeuSerThrLeuCysProAlaGluSerTrpHisLeuSerProLeuLeuCysValGlyLeuTrpAlaLeuArgLeuTrpGlyAlaLeuArgLeuGlyAlaValIleLeuArgTrpArgTyrHisAlaLeuArgGlyGluLeuTyrArgProAlaTrpGluProGlnAspTyrGluMetValGluLeuPheLeuArgArgLeuArgLeuTrpMetGlyLeuSerLysValLysGluPheArgHisLysValArgPheGluGlyMetGluProLeuProSerArgSerSerArgGlySerLysValSerProAspValProProProSerAlaGlySerAspAlaSerHisProSerThrSerSerSerGlnLeuAspGlyLeuSerValSerLeuGlyArgLeuGlyThrArgCysGluProGluProSerArgLeuGlnAlaValPheGluAlaLeuLeuThrGlnPheAspArgLeuAsnGlnAlaThrGluAspValTyrGlnLeuGluGlnGlnLeuHisSerLeuGlnGlyArgArgSerSerArgAlaProAlaGlySerSerArgGlyProSerProGlyLeuArgProAlaLeuProSerArgLeuAlaArgAlaSerArgGlyValAspLeuAlaThrGlyProSerArgThrProLeuArgAlaLysAsnLysValHisProSerSerThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675359",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262304.9:c.11277C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001009944.3:c.11277C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262304.4:p.Tyr3759Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001009944.3:p.Tyr3759Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}