{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA91052133",
  "communityStandardTitle": [
    "NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1460379[alleleid]",
        "alleleId": 1460379,
        "preferredName": "NM_000283.4(PDE6B):c.262C>T (p.Gln88Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1358080",
        "RCV": [
          "RCV001894137",
          "RCV002503398"
        ],
        "variationId": 1358080
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.619677C>T?assembly=hg19",
        "id": "chr4:g.619677C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.625888C>T?assembly=hg38",
        "id": "chr4:g.625888C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/970768801",
        "rs": 970768801
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-619677-C-T?dataset=gnomad_r2_1",
        "id": "4-619677-C-T",
        "variant": "4:619677 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-625888-C-T?dataset=gnomad_r3",
        "id": "4-625888-C-T",
        "variant": "4:625888 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-625888-C-T?dataset=gnomad_r4",
        "id": "4-625888-C-T",
        "variant": "4:625888 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 625888,
          "referenceAllele": "C",
          "start": 625887
        }
      ],
      "hgvs": [
        "NC_000004.12:g.625888C>T",
        "CM000666.2:g.625888C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 619677,
          "referenceAllele": "C",
          "start": 619676
        }
      ],
      "hgvs": [
        "NC_000004.11:g.619677C>T",
        "CM000666.1:g.619677C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 609677,
          "referenceAllele": "C",
          "start": 609676
        }
      ],
      "hgvs": [
        "NC_000004.10:g.609677C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
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          "end": 5315,
          "referenceAllele": "C",
          "start": 5314
        }
      ],
      "hgvs": [
        "NG_009839.1:g.5315C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001671"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.6:c.262C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757834",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Gln88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Gln88Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "C",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000255622.10:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000255622.6:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000255622.6:p.Gln88_Leu853delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250117"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 283,
          "referenceAllele": "C",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "ENST00000496514.5:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000420295.1:p.Gln88Ter",
        "hgvsWellDefined": "ENSP00000420295.1:p.Gln88_Leu854delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS332956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.3:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.2:p.Gln88Ter",
        "hgvsWellDefined": "NP_000274.2:p.Gln88_Leu854delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrIleLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 315,
          "referenceAllele": "C",
          "start": 314
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.1:p.Gln88Ter",
        "hgvsWellDefined": "NP_001138763.1:p.Gln88_Leu853delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrIleLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS013566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.1:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011511775.1:p.Gln161_Lys941delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.1:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011511776.1:p.Gln161_Leu927delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1687,
          "referenceAllele": "C",
          "start": 1686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.1:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Gln88Ter",
        "hgvsWellDefined": "XP_011511777.1:p.Gln88_Lys868delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.1:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011511778.1:p.Gln161_Lys857delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS080723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513473.3:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511775.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011511775.1:p.Gln161_Lys941delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513474.3:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511776.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011511776.1:p.Gln161_Leu927delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542928"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1685,
          "referenceAllele": "C",
          "start": 1684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513475.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511777.1:p.Gln88Ter",
        "hgvsWellDefined": "XP_011511777.1:p.Gln88_Lys868delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspAspArgHisArgAsnLeuGlnTrpArgProSerThrGlnValPheAsnLeuLeuTyrProValSerThrGlyProMetGlyThrLeuTrpLeuProGlnSerSerProThrArgIleTrpValLeuProValAlaIleCysTyrLysArgLeuGlySerProArgLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542929"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1850,
          "referenceAllele": "C",
          "start": 1849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "XM_011513476.3:c.481C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011511778.1:p.Gln161Ter",
        "hgvsWellDefined": "XP_011511778.1:p.Gln161_Lys857delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139486",
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_000283.4:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000274.3:p.Gln88Ter",
        "hgvsWellDefined": "NP_000274.3:p.Gln88_Leu854delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysValGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710821",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000496514.6:c.262C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000283.4:c.262C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000420295.1:p.Gln88Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000274.3:p.Gln88Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573182257",
      "coordinates": [
        {
          "allele": "T",
          "end": 316,
          "referenceAllele": "C",
          "start": 315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008786",
      "geneNCBI_id": 5158,
      "geneSymbol": "PDE6B",
      "hgvs": [
        "NM_001145291.2:c.262C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138763.2:p.Gln88Ter",
        "hgvsWellDefined": "NP_001138763.2:p.Gln88_Leu853delinsAlaAspArgCysSerLeuPheMetTyrArgGlnArgAsnGlyValAlaGluLeuAlaThrArgLeuPheSerValGlnProAspSerValLeuGluAspCysLeuValProProAspSerGluIleValPheProLeuAspIleGlyValValGlyHisValAlaGlnThrLysLysMetValAsnValGluAspValAlaGluCysProHisPheSerSerPheAlaAspGluLeuThrAspTyrLysThrLysAsnMetLeuAlaThrProIleMetAsnGlyLysAspValValAlaValIleMetAlaValAsnLysLeuAsnGlyProPhePheThrSerGluAspGluAspValPheLeuLysTyrLeuAsnPheAlaThrLeuTyrLeuLysIleTyrHisLeuSerTyrLeuHisAsnCysGluThrArgArgGlyGlnValLeuLeuTrpSerAlaAsnLysValPheGluGluLeuThrAspIleGluArgGlnPheHisLysAlaPheTyrThrValArgAlaTyrLeuAsnCysGluArgTyrSerValGlyLeuLeuAspMetThrLysGluLysGluPhePheAspValTrpSerValLeuMetGlyGluSerGlnProTyrSerGlyProArgThrProAspGlyArgGluIleValPheTyrLysValIleAspTyrValLeuHisGlyLysGluGluIleLysValIleProThrProSerAlaAspHisTrpAlaLeuAlaSerGlyLeuProSerTyrValAlaGluSerGlyPheIleCysAsnIleMetAsnAlaSerAlaAspGluMetPheLysPheGlnGluGlyAlaLeuAspAspSerGlyTrpLeuIleLysAsnValLeuSerMetProIleValAsnLysLysGluGluIleValGlyValAlaThrPheTyrAsnArgLysAspGlyLysProPheAspGluGlnAspGluValLeuMetGluSerLeuThrGlnPheLeuGlyTrpSerValMetAsnThrAspThrTyrAspLysMetAsnLysLeuGluAsnArgLysAspIleAlaGlnAspMetValLeuTyrHisValLysCysAspArgAspGluIleGlnLeuIleLeuProThrArgAlaArgLeuGlyLysGluProAlaAspCysAspGluAspGluLeuGlyGluIleLeuLysGluGluLeuProGlyProThrThrPheAspIleTyrGluPheHisPheSerAspLeuGluCysThrGluLeuAspLeuValLysCysGlyIleGlnMetTyrTyrGluLeuGlyValValArgLysPheGlnIleProGlnGluValLeuValArgPheLeuPheSerIleSerLysGlyTyrArgArgIleThrTyrHisAsnTrpArgHisGlyPheAsnValAlaGlnThrMetPheThrLeuLeuMetThrGlyLysLeuLysSerTyrTyrThrAspLeuGluAlaPheAlaMetValThrAlaGlyLeuCysHisAspIleAspHisArgGlyThrAsnAsnLeuTyrGlnMetLysSerGlnAsnProLeuAlaLysLeuHisGlySerSerIleLeuGluArgHisHisLeuGluPheGlyLysPheLeuLeuSerGluGluThrLeuAsnIleTyrGlnAsnLeuAsnArgArgGlnHisGluHisValIleHisLeuMetAspIleAlaIleIleAlaThrAspLeuAlaLeuTyrPheLysLysArgAlaMetPheGlnLysIleValAspGluSerLysAsnTyrGlnAspLysLysSerTrpValGluTyrLeuSerLeuGluThrThrArgLysGluIleValMetAlaMetMetMetThrAlaCysAspLeuSerAlaIleThrLysProTrpGluValGlnSerLysValAlaLeuLeuValAlaAlaGluPheTrpGluGlnGlyAspLeuGluArgThrValLeuAspGlnGlnProIleProMetMetAspArgAsnLysAlaAlaGluLeuProLysLeuGlnValGlyPheIleAspPheValCysThrPheValTyrLysGluPheSerArgPheHisGluGluIleLeuProMetPheAspArgLeuGlnAsnAsnArgLysGluTrpLysAlaLeuAlaAspGluTyrGluAlaLysValLysAlaLeuGluGluLysGluGluGluGluArgValAlaAlaLysLysGlyThrGluIleCysAsnGlyGlyProAlaProLysSerSerThrCysCysIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712791"
    }
  ],
  "type": "nucleotide"
}