{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA4485431",
  "communityStandardTitle": [
    "NM_018718.3(CEP41):c.973+11T>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1573292[alleleid]",
        "alleleId": 1573292,
        "preferredName": "NM_018718.3(CEP41):c.973+11T>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1572925",
        "RCV": [
          "RCV002215657"
        ],
        "variationId": 1572925
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/7-130039869-A-G",
        "id": "7-130039869-A-G",
        "variant": "7:130039869 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.130039869A>G?assembly=hg19",
        "id": "chr7:g.130039869A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr7:g.130400028A>G?assembly=hg38",
        "id": "chr7:g.130400028A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/781847285",
        "rs": 781847285
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-130039869-A-G?dataset=gnomad_r2_1",
        "id": "7-130039869-A-G",
        "variant": "7:130039869 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-130400028-A-G?dataset=gnomad_r3",
        "id": "7-130400028-A-G",
        "variant": "7:130400028 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/7-130400028-A-G?dataset=gnomad_r4",
        "id": "7-130400028-A-G",
        "variant": "7:130400028 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 130400028,
          "referenceAllele": "A",
          "start": 130400027
        }
      ],
      "hgvs": [
        "NC_000007.14:g.130400028A>G",
        "CM000669.2:g.130400028A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000055"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 130039869,
          "referenceAllele": "A",
          "start": 130039868
        }
      ],
      "hgvs": [
        "NC_000007.13:g.130039869A>G",
        "CM000669.1:g.130039869A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000031"
    },
    {
      "chromosome": "7",
      "coordinates": [
        {
          "allele": "G",
          "end": 129827105,
          "referenceAllele": "A",
          "start": 129827104
        }
      ],
      "hgvs": [
        "NC_000007.12:g.129827105A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46183,
          "referenceAllele": "T",
          "start": 46182
        }
      ],
      "hgvs": [
        "NG_032164.1:g.46183T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 46183,
          "referenceAllele": "T",
          "start": 46182
        }
      ],
      "hgvs": [
        "NG_032164.2:g.46183T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673864"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1023,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000223208.10:c.973+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223208.4:n.973+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740612",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223208.10:c.973+11T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018718.3:c.973+11T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223208.4:n.973+11T>C"
          },
          "RefSeq": {
            "hgvs": "NP_061188.1:n.973+11T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 816,
          "endIntronDirection": "+",
          "endIntronOffset": 670,
          "referenceAllele": "T",
          "start": 816,
          "startIntronDirection": "+",
          "startIntronOffset": 669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000343969.10:c.766+670T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342738.6:n.766+670T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748182"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1522,
          "referenceAllele": "T",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000480206.2:c.*497T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502099.1:n.*497T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757327"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1423,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1423,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000484549.6:c.*1145+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419078.2:n.*1145+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757472"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 777,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 777,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000492389.6:c.777+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419192.2:n.777+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757706"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 977,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000541543.6:c.964+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445888.2:n.964+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759666"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 522,
          "endIntronDirection": "-",
          "endIntronOffset": 988,
          "referenceAllele": "T",
          "start": 522,
          "startIntronDirection": "-",
          "startIntronOffset": 989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000674539.1:c.423-989T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502834.1:n.423-989T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774491"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 977,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 977,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000674630.1:c.*519+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502521.1:n.*519+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1018,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1018,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675138.1:c.1018+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501597.1:n.1018+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775004"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 979,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 979,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675168.1:c.925+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501563.1:n.925+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775031"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 783,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 783,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675328.1:n.783+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775161"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 938,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 938,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675542.1:n.938+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS775346"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 972,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 972,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675563.1:c.364+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502483.1:n.364+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775363"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1028,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 1028,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675596.1:c.757+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501735.1:n.757+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 843,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 843,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675649.1:c.790+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502385.1:n.790+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775441"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1110,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1110,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675721.1:c.*916+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502026.1:n.*916+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1255,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1255,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675803.1:c.934+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502477.1:n.934+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775574"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675813.1:c.*877+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502785.1:n.*877+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775584"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1076,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1076,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675935.1:c.964+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501731.1:n.964+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775689"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 769,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 769,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000675962.1:c.709+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502478.1:n.709+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775711"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1148,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1148,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000676115.1:c.*894+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502631.1:n.*894+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775844"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1075,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1075,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000676243.1:c.982+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501717.1:n.982+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS775955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1192,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1192,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000676312.1:c.934+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502312.1:n.934+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776010"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1244,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1244,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000223208.9:c.973+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000223208.4:n.973+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS248433"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 786,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 786,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000343969.9:c.757+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342738.5:n.757+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261871"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 958,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 958,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000484549.5:c.*519+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000419078.1:n.*519+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323778"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 656,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 656,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000485736.5:n.656+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 953,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000541543.5:c.709+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000445888.1:n.709+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS362977"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1182,
          "referenceAllele": "T",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "ENST00000603513.1:n.1182T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398645"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1001,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 1001,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NM_001257158.1:c.757+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244087.1:n.757+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019549"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 953,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 953,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NM_001257159.1:c.709+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244088.1:n.709+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019550"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1217,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1217,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NM_018718.2:c.973+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061188.1:n.973+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS035881"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1141,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1141,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NR_046443.1:n.1141+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS051696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1024,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1024,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516708.1:c.1018+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515010.1:n.1018+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083908"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516709.1:c.868+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515011.1:n.868+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083909"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516710.1:c.868+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515012.1:n.868+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083910"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1007,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1007,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516711.1:c.868+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515013.1:n.868+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083911"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 808,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 808,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516712.1:c.802+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515014.1:n.802+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS083912"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1178,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1178,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516709.3:c.868+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515011.1:n.868+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544273"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 993,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 993,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_011516710.3:c.868+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011515012.1:n.868+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544274"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1283,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1283,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "XM_024447004.1:c.934+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_024302772.1:n.934+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580631"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 1023,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NM_018718.3:c.973+11T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_061188.1:n.973+11T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669738",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223208.10:c.973+11T>C"
          },
          "RefSeq": {
            "hgvs": "NM_018718.3:c.973+11T>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223208.4:n.973+11T>C"
          },
          "RefSeq": {
            "hgvs": "NP_061188.1:n.973+11T>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 807,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 807,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NM_001257158.2:c.757+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244087.1:n.757+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680697"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 947,
          "endIntronDirection": "+",
          "endIntronOffset": 11,
          "referenceAllele": "T",
          "start": 947,
          "startIntronDirection": "+",
          "startIntronOffset": 10
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NR_046443.2:n.947+11T>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702502"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 759,
          "endIntronDirection": "+",
          "endIntronOffset": 679,
          "referenceAllele": "T",
          "start": 759,
          "startIntronDirection": "+",
          "startIntronOffset": 678
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012370",
      "geneNCBI_id": 95681,
      "geneSymbol": "CEP41",
      "hgvs": [
        "NM_001257159.2:c.709+679T>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244088.1:n.709+679T>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714866"
    }
  ],
  "type": "nucleotide"
}