{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA227967",
  "communityStandardTitle": [
    "NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5076680",
        "active": true,
        "id": "COSM5076680"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=105741[alleleid]",
        "alleleId": 105741,
        "preferredName": "NM_025114.4(CEP290):c.3814C>T (p.Arg1272Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/99852",
        "RCV": [
          "RCV000086289",
          "RCV001216498",
          "RCV001199210",
          "RCV001831897",
          "RCV002498466",
          "RCV003467011"
        ],
        "variationId": 99852
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88483024G>A?assembly=hg19",
        "id": "chr12:g.88483024G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.88089247G>A?assembly=hg38",
        "id": "chr12:g.88089247G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/62640581",
        "rs": 62640581
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-88089247-G-A?dataset=gnomad_r4",
        "id": "12-88089247-G-A",
        "variant": "12:88089247 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 88089247,
          "referenceAllele": "G",
          "start": 88089246
        }
      ],
      "hgvs": [
        "NC_000012.12:g.88089247G>A",
        "CM000674.2:g.88089247G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 88483024,
          "referenceAllele": "G",
          "start": 88483023
        }
      ],
      "hgvs": [
        "NC_000012.11:g.88483024G>A",
        "CM000674.1:g.88483024G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
          "allele": "A",
          "end": 87007155,
          "referenceAllele": "G",
          "start": 87007154
        }
      ],
      "hgvs": [
        "NC_000012.10:g.87007155G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57970,
          "referenceAllele": "C",
          "start": 57969
        }
      ],
      "hgvs": [
        "NG_008417.1:g.57970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57970,
          "referenceAllele": "C",
          "start": 57969
        }
      ],
      "hgvs": [
        "NG_008417.2:g.57970C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706085"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000309041.12:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308021.8:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000547691.8:c.1098C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759881"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000552810.6:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448012.1:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS760039",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000552810.6:c.3814C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025114.4:c.3814C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448012.1:p.Arg1272Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079390.3:p.Arg1272Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3928,
          "referenceAllele": "C",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000672414.2:c.*1985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500729.1:n.*1985C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "C",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000672647.1:n.2174C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000673058.2:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500665.2:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773585"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000674971.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502194.1:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774853"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4020,
          "referenceAllele": "C",
          "start": 4019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675230.1:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502503.1:p.Arg1265Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775078"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675408.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502298.1:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4902,
          "referenceAllele": "C",
          "start": 4901
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675476.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502161.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775293"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675628.1:n.4041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775421"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3928,
          "referenceAllele": "C",
          "start": 3927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675794.1:c.*1985C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502841.1:n.*1985C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775565"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4809,
          "referenceAllele": "C",
          "start": 4808
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000675833.1:c.4582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502559.1:p.Arg1528Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775601"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4041,
          "referenceAllele": "C",
          "start": 4040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676074.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502079.1:p.Arg1272Ter",
        "hgvsWellDefined": "ENSP00000502079.1:p.Arg1272_Ser2267delinsGlnPheSerGlyAlaLeuProLeuAlaGlnGlnGluLysPheSerLysThrMetIleGlnLeuGlnAsnAspLysLeuLysIleMetGlnGluMetLysAsnSerGlnGlnGluHisArgAsnMetGluAsnLysThrLeuGluMetGluLeuLysLeuLysGlyLeuGluGluLeuIleSerThrLeuLysAspThrLysGlyAlaGlnLysValIleAsnTrpHisMetLysIleGluGluLeuArgLeuGlnGluLeuLysLeuAsnArgGluLeuValLysAspLysGluGluIleLysTyrLeuAsnAsnIleIleSerGluTyrGluArgThrIleSerSerLeuGluGluGluIleValGlnGlnAsnLysPheHisGluGluArgGlnMetAlaTrpAspGlnArgGluValAspLeuGluArgGlnLeuAspIlePheAspArgGlnGlnAsnGluIleLeuAsnAlaAlaGlnLysPheGluGluAlaThrGlySerIleProAspProSerLeuProLeuProAsnGlnLeuGluIleAlaLeuArgLysIleLysGluAsnIleArgIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerIleSerGlyIleGluSerAspAspHisCysGlnArgGluGlnGluLeuGlnLysGluAsnLeuLysLeuSerSerGluAsnIleGluLeuLysPheGlnLeuGluGlnAlaAsnLysAspLeuProArgLeuLysAsnGlnValArgAspLeuLysGluMetCysGluPheLeuLysLysGluLysAlaGluValGlnArgLysLeuGlyHisValArgGlyAlaGluLeuGluLysLeuLysAlaHisLeuGlyHisGlnLeuSerMetHisTyrGluSerLysThrLysGlyThrGluLysIleIleAlaGluAsnGluArgLeuArgLysGluLeuLysLysGluThrAspAlaAlaGluLysLeuArgIleAlaLysAsnAsnLeuGluIleLeuAsnGluLysMetThrValGlnLeuGluGluThrGlyLysArgLeuGlnPheAlaGluSerArgGlyProGlnLeuGluGlyAlaAspSerLysSerTrpLysSerIleValValThrArgMetTyrGluThrLysLeuLysGluLeuGluThrAspIleAlaLysLysAsnGlnSerIleThrAspLeuLysGlnLeuValLysGluAlaThrGluArgGluGlnLysValAsnLysTyrAsnGluAspLeuGluGlnGlnIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2742,
          "referenceAllele": "C",
          "start": 2741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676181.1:n.2742C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775901"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 9540,
          "referenceAllele": "C",
          "start": 9539
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676363.1:n.9540C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776054"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3898,
          "referenceAllele": "C",
          "start": 3897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000676448.1:c.*1727C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501987.1:n.*1727C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3820,
          "referenceAllele": "C",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000309041.11:c.3820C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308021.7:p.Arg1274Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256142"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2174,
          "referenceAllele": "C",
          "start": 2173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000547691.6:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000446905.1:p.Arg332Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS366424"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4158,
          "referenceAllele": "C",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "ENST00000552810.5:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000448012.1:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS369457"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4158,
          "referenceAllele": "C",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NM_025114.3:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079390.3:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS038208"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538756.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537058.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4789,
          "referenceAllele": "C",
          "start": 4788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538757.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537059.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538758.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537060.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105712"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538759.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537061.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105713"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538760.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537062.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105714"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538761.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537063.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4251,
          "referenceAllele": "C",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538762.1:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537064.1:p.Arg1303Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4158,
          "referenceAllele": "C",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538763.1:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537065.1:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538764.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537066.1:p.Arg1559Ter",
        "hgvsWellDefined": "XP_011537066.1:p.Arg1559_Phe2366delinsGlnPheSerGlyAlaLeuProLeuAlaGlnGlnGluLysPheSerLysThrMetIleGlnLeuGlnAsnAspLysLeuLysIleMetGlnGluMetLysAsnSerGlnGlnGluHisArgAsnMetGluAsnLysThrLeuGluMetGluLeuLysLeuLysGlyLeuGluGluLeuIleSerThrLeuLysAspThrLysGlyAlaGlnLysValIleAsnTrpHisMetLysIleGluGluLeuArgLeuGlnGluLeuLysLeuAsnArgGluLeuValLysAspLysGluGluIleLysTyrLeuAsnAsnIleIleSerGluTyrGluArgThrIleSerSerLeuGluGluGluIleValGlnGlnAsnLysPheHisGluGluArgGlnMetAlaTrpAspGlnArgGluValAspLeuGluArgGlnLeuAspIlePheAspArgGlnGlnAsnGluIleLeuAsnAlaAlaGlnLysPheGluGluAlaThrGlySerIleProAspProSerLeuProLeuProAsnGlnLeuGluIleAlaLeuArgLysIleLysGluAsnIleArgIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105718"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538765.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537067.1:p.Arg1559Ter",
        "hgvsWellDefined": "XP_011537067.1:p.Arg1559_Phe2365delinsGlnPheSerGlyAlaLeuProLeuAlaGlnGlnGluLysPheSerLysThrMetIleGlnLeuGlnAsnAspLysLeuLysIleMetGlnGluMetLysAsnSerGlnGlnGluHisArgAsnMetGluAsnLysThrLeuGluMetGluLeuLysLeuLysGlyLeuGluGluLeuIleSerThrLeuLysAspThrLysGlyAlaGlnLysValIleAsnTrpHisMetLysIleGluGluLeuArgLeuGlnGluLeuLysLeuAsnArgGluLeuValLysAspLysGluGluIleLysTyrLeuAsnAsnIleIleSerGluTyrGluArgThrIleSerSerLeuGluGluGluIleValGlnGlnAsnLysPheHisGluGluArgGlnMetAlaTrpAspGlnArgGluValAspLeuGluArgGlnLeuAspIlePheAspArgGlnGlnAsnGluIleLeuAsnAlaAlaGlnLysPheGluGluAlaThrGlySerIleProAspProSerLeuProLeuProAsnGlnLeuGluIleAlaLeuArgLysIleLysGluAsnIleArgIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105719"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3246,
          "referenceAllele": "C",
          "start": 3245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538766.1:c.3136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537068.1:p.Arg1046Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105720"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538756.3:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537058.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553398"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4827,
          "referenceAllele": "C",
          "start": 4826
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538757.3:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537059.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553399"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538758.3:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537060.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553400"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538759.2:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537061.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553401"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538760.2:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537062.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553402"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538761.2:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537063.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553403"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4251,
          "referenceAllele": "C",
          "start": 4250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538762.3:c.3907C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537064.1:p.Arg1303Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4158,
          "referenceAllele": "C",
          "start": 4157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538763.3:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537065.1:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553405"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538764.3:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537066.1:p.Arg1559Ter",
        "hgvsWellDefined": "XP_011537066.1:p.Arg1559_Phe2366delinsGlnPheSerGlyAlaLeuProLeuAlaGlnGlnGluLysPheSerLysThrMetIleGlnLeuGlnAsnAspLysLeuLysIleMetGlnGluMetLysAsnSerGlnGlnGluHisArgAsnMetGluAsnLysThrLeuGluMetGluLeuLysLeuLysGlyLeuGluGluLeuIleSerThrLeuLysAspThrLysGlyAlaGlnLysValIleAsnTrpHisMetLysIleGluGluLeuArgLeuGlnGluLeuLysLeuAsnArgGluLeuValLysAspLysGluGluIleLysTyrLeuAsnAsnIleIleSerGluTyrGluArgThrIleSerSerLeuGluGluGluIleValGlnGlnAsnLysPheHisGluGluArgGlnMetAlaTrpAspGlnArgGluValAspLeuGluArgGlnLeuAspIlePheAspArgGlnGlnAsnGluIleLeuAsnAlaAlaGlnLysPheGluGluAlaThrGlySerIleProAspProSerLeuProLeuProAsnGlnLeuGluIleAlaLeuArgLysIleLysGluAsnIleArgIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerGlnAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553406"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538765.3:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537067.1:p.Arg1559Ter",
        "hgvsWellDefined": "XP_011537067.1:p.Arg1559_Phe2365delinsGlnPheSerGlyAlaLeuProLeuAlaGlnGlnGluLysPheSerLysThrMetIleGlnLeuGlnAsnAspLysLeuLysIleMetGlnGluMetLysAsnSerGlnGlnGluHisArgAsnMetGluAsnLysThrLeuGluMetGluLeuLysLeuLysGlyLeuGluGluLeuIleSerThrLeuLysAspThrLysGlyAlaGlnLysValIleAsnTrpHisMetLysIleGluGluLeuArgLeuGlnGluLeuLysLeuAsnArgGluLeuValLysAspLysGluGluIleLysTyrLeuAsnAsnIleIleSerGluTyrGluArgThrIleSerSerLeuGluGluGluIleValGlnGlnAsnLysPheHisGluGluArgGlnMetAlaTrpAspGlnArgGluValAspLeuGluArgGlnLeuAspIlePheAspArgGlnGlnAsnGluIleLeuAsnAlaAlaGlnLysPheGluGluAlaThrGlySerIleProAspProSerLeuProLeuProAsnGlnLeuGluIleAlaLeuArgLysIleLysGluAsnIleArgIleIleLeuGluThrArgAlaThrCysLysSerLeuGluGluLysLeuLysGluLysGluSerAlaLeuArgLeuAlaGluGlnAsnIleLeuSerArgAspLysValIleAsnGluLeuArgLeuArgLeuProAlaThrAlaGluArgGluLysLeuIleAlaGluLeuGlyArgLysGluMetGluProLysSerHisHisThrLeuLysIleAlaHisGlnThrIleAlaAsnMetGlnAlaArgLeuAsnGlnLysGluGluValLeuLysLysTyrGlnArgLeuLeuGluLysAlaArgGluGluGlnArgGluIleValLysLysHisGluGluAspLeuHisIleLeuHisHisArgLeuGluLeuGlnAlaAspSerSerLeuAsnLysPheLysGlnThrAlaTrpAspLeuMetLysGlnSerProThrProValProThrAsnLysHisPheIleArgLeuAlaGluMetGluGlnThrValAlaGluGlnAspAspSerLeuSerSerLeuLeuValLysLeuLysLysValSerGlnAspLeuGluArgGlnArgGluIleThrGluLeuLysValLysGluPheGluAsnIleLysLeuGlnLeuGlnGluAsnHisGluAspGluValLysLysValLysAlaGluValGluAspLeuLysTyrLeuLeuAspGlnSerGlnLysGluSerGlnCysLeuLysSerGluLeuGlnAlaGlnLysGluAlaAsnSerArgAlaProThrThrThrMetArgAsnLeuValGluArgLeuLysSerGlnLeuAlaLeuLysGluLysGlnGlnLysAlaLeuSerArgAlaLeuLeuGluLeuArgAlaGluMetThrAlaAlaAlaGluGluArgIleIleSerAlaThrSerGlnLysGluAlaHisLeuAsnValGlnGlnIleValAspArgHisThrArgGluLeuLysThrGlnValGluAspLeuAsnGluAsnLeuLeuLysLeuLysGluAlaLeuLysThrSerLysAsnArgGluAsnSerLeuThrAspAsnLeuAsnAspLeuAsnAsnGluLeuGlnLysLysGlnLysAlaTyrAsnLysIleLeuArgGluLysGluGluIleAspGlnGluAsnAspGluLeuLysArgGlnIleLysArgLeuThrSerGlyLeuGlnGlyLysProLeuThrAspAsnLysGlnSerLeuIleGluGluLeuGlnArgLysValLysLysLeuGluAsnGlnLeuGluGlyLysValGluGluValAspLeuLysProMetLysGluLysAsnAlaLysGluGluLeuIleArgTrpGluGluGlyLysLysTrpGlnAlaLysIleGluGlyIleArgAsnLysLeuLysGluLysGluGlyGluValPheThrLeuThrLysGlnLeuAsnThrLeuLysAspLeuPheAlaLysAlaAspLysGluLysLeuThrLeuGlnArgLysLeuLysThrThrGlyMetThrValAspGlnValLeuGlyIleArgAlaLeuGluSerGluLysGluLeuGluGluLeuLysLysArgAsnLeuAspLeuGluAsnAspIleLeuTyrMetArgAlaHisGlnAlaLeuProArgAspSerValValGluAspLeuHisLeuGlnAsnArgTyrLeuGlnGluLysLeuHisAlaLeuGluLysGlnPheSerLysAspThrTyrSerLysProSerAsnGlnAspThrSerHisSerArgIleGlyPheThrLeuLysSerHisPheAsnLeuAsnThrSerValLysThrGlnSerProAsnLysValThrPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3246,
          "referenceAllele": "C",
          "start": 3245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_011538766.3:c.3136C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537068.1:p.Arg1046Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019980.2:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875469.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571554"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019981.2:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875470.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571555"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019982.1:c.4675C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875471.1:p.Arg1559Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571556"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4137,
          "referenceAllele": "C",
          "start": 4136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XM_017019983.2:c.3793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875472.1:p.Arg1265Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XR_001748869.1:n.5019C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596808"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5019,
          "referenceAllele": "C",
          "start": 5018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "XR_001748870.2:n.5019C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS596809"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4030,
          "referenceAllele": "C",
          "start": 4029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029021",
      "geneNCBI_id": 80184,
      "geneSymbol": "CEP290",
      "hgvs": [
        "NM_025114.4:c.3814C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079390.3:p.Arg1272Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698816",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000552810.6:c.3814C>T"
          },
          "RefSeq": {
            "hgvs": "NM_025114.4:c.3814C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000448012.1:p.Arg1272Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079390.3:p.Arg1272Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}