{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA227975",
  "communityStandardTitle": [
    "NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=944227",
        "active": true,
        "id": "COSM944227"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105746[alleleid]",
        "alleleId": 105746,
        "preferredName": "NM_025114.4(CEP290):c.4966G>T (p.Glu1656Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99857",
        "RCV": [
          "RCV000086294",
          "RCV000263885",
          "RCV000637002",
          "RCV001335142",
          "RCV001276492",
          "RCV002227445",
          "RCV001723671",
          "RCV003467014"
        ],
        "variationId": 99857
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/12-88476854-C-A",
        "id": "12-88476854-C-A",
        "variant": "12:88476854 C / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88476854C>A?assembly=hg19",
        "id": "chr12:g.88476854C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88083077C>A?assembly=hg38",
        "id": "chr12:g.88083077C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62638179",
        "rs": 62638179
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88476854-C-A?dataset=gnomad_r2_1",
        "id": "12-88476854-C-A",
        "variant": "12:88476854 C / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88083077-C-A?dataset=gnomad_r3",
        "id": "12-88083077-C-A",
        "variant": "12:88083077 C / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88083077-C-A?dataset=gnomad_r4",
        "id": "12-88083077-C-A",
        "variant": "12:88083077 C / A"
      }
    ]
  },
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      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 88083077,
          "referenceAllele": "C",
          "start": 88083076
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      ],
      "hgvs": [
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        "CM000674.2:g.88083077C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 88476854,
          "referenceAllele": "C",
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        }
      ],
      "hgvs": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 87000985,
          "referenceAllele": "C",
          "start": 87000984
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 64140,
          "referenceAllele": "G",
          "start": 64139
        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS001089"
    },
    {
      "coordinates": [
        {
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          "end": 64140,
          "referenceAllele": "G",
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        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS706085"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000309041.12:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308021.8:p.Glu1656Ter",
        "hgvsWellDefined": "ENSP00000308021.8:p.Glu1656_Tyr2482delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2250,
          "referenceAllele": "G",
          "start": 2249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000547691.8:c.2250G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5182,
          "referenceAllele": "G",
          "start": 5181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000552810.6:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448012.1:p.Glu1656Ter",
        "hgvsWellDefined": "ENSP00000448012.1:p.Glu1656_Tyr2479delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000552810.6:c.4966G>T"
          },
          "RefSeq": {
            "hgvs": "NM_025114.4:c.4966G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448012.1:p.Glu1656Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079390.3:p.Glu1656Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5080,
          "referenceAllele": "G",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000672414.2:c.*3137G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500729.1:n.*3137G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3326,
          "referenceAllele": "G",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000672647.1:n.3326G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000673058.2:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500665.2:p.Glu1656Ter",
        "hgvsWellDefined": "ENSP00000500665.2:p.Glu1656_Tyr2438delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000674971.1:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502194.1:p.Glu1656Ter",
        "hgvsWellDefined": "ENSP00000502194.1:p.Glu1656_Ser2322delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5172,
          "referenceAllele": "G",
          "start": 5171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675230.1:c.4945G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000502503.1:p.Glu1649_Tyr2472delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
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      "hgvs": [
        "ENST00000675408.1:c.4966G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000502298.1:p.Glu1656_Tyr2424delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6054,
          "referenceAllele": "G",
          "start": 6053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675476.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502161.1:p.Glu1943Ter",
        "hgvsWellDefined": "ENSP00000502161.1:p.Glu1943_Tyr2766delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675628.1:n.5193G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS775421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5080,
          "referenceAllele": "G",
          "start": 5079
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675794.1:c.*3137G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502841.1:n.*3137G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5961,
          "referenceAllele": "G",
          "start": 5960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675833.1:c.5734G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502559.1:p.Glu1912Ter",
        "hgvsWellDefined": "ENSP00000502559.1:p.Glu1912_Tyr2735delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1271,
          "referenceAllele": "G",
          "start": 1270
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675894.1:n.1271G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775656"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5193,
          "referenceAllele": "G",
          "start": 5192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676074.1:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502079.1:p.Glu1656Ter",
        "hgvsWellDefined": "ENSP00000502079.1:p.Glu1656_Ser2267delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3894,
          "referenceAllele": "G",
          "start": 3893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676181.1:n.3894G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10692,
          "referenceAllele": "G",
          "start": 10691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676363.1:n.10692G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5050,
          "referenceAllele": "G",
          "start": 5049
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676448.1:c.*2879G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501987.1:n.*2879G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4972,
          "referenceAllele": "G",
          "start": 4971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000309041.11:c.4972G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308021.7:p.Glu1658Ter",
        "hgvsWellDefined": "ENSP00000308021.7:p.Glu1658_Tyr2481delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3326,
          "referenceAllele": "G",
          "start": 3325
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000547691.6:c.2146G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446905.1:p.Glu716Ter",
        "hgvsWellDefined": "ENSP00000446905.1:p.Glu716_Tyr1539delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5310,
          "referenceAllele": "G",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000552810.5:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448012.1:p.Glu1656Ter",
        "hgvsWellDefined": "ENSP00000448012.1:p.Glu1656_Tyr2479delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369457"
    },
    {
      "@id": "http://reg.genome.network/allele/PA227976",
      "coordinates": [
        {
          "allele": "T",
          "end": 5310,
          "referenceAllele": "G",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NM_025114.3:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079390.3:p.Glu1656Ter",
        "hgvsWellDefined": "NP_079390.3:p.Glu1656_Tyr2479delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538756.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537058.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537058.1:p.Glu1943_Tyr2769delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5941,
          "referenceAllele": "G",
          "start": 5940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538757.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537059.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537059.1:p.Glu1943_Tyr2769delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538758.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537060.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537060.1:p.Glu1943_Tyr2768delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538759.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537061.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537061.1:p.Glu1943_Tyr2766delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538760.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537062.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537062.1:p.Glu1943_Tyr2728delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538761.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537063.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537063.1:p.Glu1943_Tyr2714delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5403,
          "referenceAllele": "G",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538762.1:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537064.1:p.Glu1687Ter",
        "hgvsWellDefined": "XP_011537064.1:p.Glu1687_Tyr2513delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5310,
          "referenceAllele": "G",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538763.1:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537065.1:p.Glu1656Ter",
        "hgvsWellDefined": "XP_011537065.1:p.Glu1656_Tyr2482delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538764.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537066.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537066.1:p.Glu1943_Phe2366delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538765.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537067.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537067.1:p.Glu1943_Phe2365delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4398,
          "referenceAllele": "G",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538766.1:c.4288G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537068.1:p.Glu1430Ter",
        "hgvsWellDefined": "XP_011537068.1:p.Glu1430_Tyr2256delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538756.3:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537058.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537058.1:p.Glu1943_Tyr2769delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5979,
          "referenceAllele": "G",
          "start": 5978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538757.3:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537059.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537059.1:p.Glu1943_Tyr2769delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538758.3:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537060.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537060.1:p.Glu1943_Tyr2768delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538759.2:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537061.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537061.1:p.Glu1943_Tyr2766delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538760.2:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537062.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537062.1:p.Glu1943_Tyr2728delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538761.2:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537063.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537063.1:p.Glu1943_Tyr2714delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5403,
          "referenceAllele": "G",
          "start": 5402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538762.3:c.5059G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537064.1:p.Glu1687Ter",
        "hgvsWellDefined": "XP_011537064.1:p.Glu1687_Tyr2513delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5310,
          "referenceAllele": "G",
          "start": 5309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538763.3:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537065.1:p.Glu1656Ter",
        "hgvsWellDefined": "XP_011537065.1:p.Glu1656_Tyr2482delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538764.3:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537066.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537066.1:p.Glu1943_Phe2366delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538765.3:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537067.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_011537067.1:p.Glu1943_Phe2365delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4398,
          "referenceAllele": "G",
          "start": 4397
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538766.3:c.4288G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537068.1:p.Glu1430Ter",
        "hgvsWellDefined": "XP_011537068.1:p.Glu1430_Tyr2256delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019980.2:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875469.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_016875469.1:p.Glu1943_Tyr2725delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019981.2:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875470.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_016875470.1:p.Glu1943_Tyr2711delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019982.1:c.5827G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875471.1:p.Glu1943Ter",
        "hgvsWellDefined": "XP_016875471.1:p.Glu1943_Ser2612delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5289,
          "referenceAllele": "G",
          "start": 5288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019983.2:c.4945G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875472.1:p.Glu1649Ter",
        "hgvsWellDefined": "XP_016875472.1:p.Glu1649_Tyr2475delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XR_001748869.1:n.6171G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 6171,
          "referenceAllele": "G",
          "start": 6170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XR_001748870.2:n.6171G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596809"
    },
    {
      "@id": "http://reg.genome.network/allele/PA227976",
      "coordinates": [
        {
          "allele": "T",
          "end": 5182,
          "referenceAllele": "G",
          "start": 5181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NM_025114.4:c.4966G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079390.3:p.Glu1656Ter",
        "hgvsWellDefined": "NP_079390.3:p.Glu1656_Tyr2479delinsIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlySerGlyArgSerGlyLysThrIleProGluLeuGluLysThrIleGlyLeuMetLysLysValValGluLysValGlnArgGluAsnGluGlnLeuLysLysAlaSerGlyIleLeuThrSerGluLysMetAlaAsnIleGluGlnGluAsnGluLysLeuLysAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleLysIleLeuLysHisValProGluGlyAlaGluThrGluGlnGlyLeuLysArgGluLeuGlnValLeuArgLeuAlaAsnHisGlnLeuAspLysGluLysAlaGluLeuIleHisGlnIleGluAlaAsnLysAspGlnSerGlyAlaGluSerThrIleProAspAlaAspGlnLeuLysGluLysIleLysAspLeuGluThrGlnLeuLysMetSerAspLeuGluLysGlnHisLeuLysGluGluIleLysLysLeuLysLysGluLeuGluAsnPheAspProSerPhePheGluGluIleGluAspLeuLysTyrAsnTyrLysGluGluValLysLysAsnIleLeuLeuGluGluLysValLysLysLeuSerGluGlnLeuGlyValGluLeuThrSerProValAlaAlaSerGluGluPheGluAspGluGluGluSerProValAsnPheProIleTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000552810.6:c.4966G>T"
          },
          "RefSeq": {
            "hgvs": "NM_025114.4:c.4966G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448012.1:p.Glu1656Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079390.3:p.Glu1656Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}