{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10351732",
  "communityStandardTitle": [
    "NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1288252[alleleid]",
        "alleleId": 1288252,
        "preferredName": "NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1298390",
        "RCV": [
          "RCV001726720",
          "RCV002538677",
          "RCV003130543",
          "RCV002471136"
        ],
        "variationId": 1298390
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/X-13769462-C-T",
        "id": "X-13769462-C-T",
        "variant": "X:13769462 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13769462C>T?assembly=hg19",
        "id": "chrX:g.13769462C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.13751343C>T?assembly=hg38",
        "id": "chrX:g.13751343C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/758903488",
        "rs": 758903488
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-13769462-C-T?dataset=gnomad_r2_1",
        "id": "X-13769462-C-T",
        "variant": "X:13769462 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/X-13751343-C-T?dataset=gnomad_r4",
        "id": "X-13751343-C-T",
        "variant": "X:13751343 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 13751343,
          "referenceAllele": "C",
          "start": 13751342
        }
      ],
      "hgvs": [
        "NC_000023.11:g.13751343C>T",
        "CM000685.2:g.13751343C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 13769462,
          "referenceAllele": "C",
          "start": 13769461
        }
      ],
      "hgvs": [
        "NC_000023.10:g.13769462C>T",
        "CM000685.1:g.13769462C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "T",
          "end": 13679383,
          "referenceAllele": "C",
          "start": 13679382
        }
      ],
      "hgvs": [
        "NC_000023.9:g.13679383C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 21631,
          "referenceAllele": "C",
          "start": 21630
        }
      ],
      "hgvs": [
        "NG_008872.1:g.21631C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001267"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.6:c.*723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.2:n.*723C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824388"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1234,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1234,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.8:c.*628+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.5:n.*628+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1218,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000464463.6:n.1218+1810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825148"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.6:n.895C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825408"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682237.1:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507121.1:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000507121.1:p.Arg344_Ile367delinsLysLeuLysAsnGluLeuLeuAsnPheHisArgLeuHisGlyValCysLeuAlaLeuGlyIleLeuIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1381,
          "referenceAllele": "C",
          "start": 1380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682562.1:c.*723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507874.1:n.*723C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1534,
          "referenceAllele": "C",
          "start": 1533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000682953.1:c.*1093C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507878.1:n.*1093C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 966,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 966,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683055.1:c.830+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508191.1:n.830+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 344,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 344,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683065.1:n.344+1810C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828050"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1178,
          "referenceAllele": "C",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683284.1:c.*597C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507837.1:n.*597C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828265"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1261,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683427.1:c.935+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507290.1:n.935+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828404"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683454.1:n.1044C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828430"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1475,
          "referenceAllele": "C",
          "start": 1474
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683637.1:n.1475C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828609"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1509,
          "referenceAllele": "C",
          "start": 1508
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683655.1:c.*580C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506770.1:n.*580C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828626"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000683713.1:c.*597C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507797.1:n.*597C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828684"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000684577.1:c.*723C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000507871.1:n.*723C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829529"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.11:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000344314.6:p.Arg344_Trp1012delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1030C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1030C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Arg344Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Arg344Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1357,
          "referenceAllele": "C",
          "start": 1356
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000340096.10:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000344314.6:p.Arg344Ter",
        "hgvsWellDefined": "ENSP00000344314.6:p.Arg344_Trp1012delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261020"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1109,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1109,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380550.6:c.935+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369923.3:n.935+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272973"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1482,
          "referenceAllele": "C",
          "start": 1481
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000380567.5:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000369941.1:p.Arg204Ter",
        "hgvsWellDefined": "ENSP00000369941.1:p.Arg204_Trp872delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1232,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1232,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.524+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:n.524+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1341,
          "referenceAllele": "C",
          "start": 1340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.1341C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499264309",
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Arg344Ter",
        "hgvsWellDefined": "NP_003602.1:p.Arg344_Trp1012delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "C",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Arg351Ter",
        "hgvsWellDefined": "XP_005274656.1:p.Arg351_Trp1019delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "C",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:p.Arg351Ter",
        "hgvsWellDefined": "XP_005274659.1:p.Arg351_Trp982delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1293,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1293,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.956+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:n.956+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1294,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.935+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:n.935+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1561,
          "referenceAllele": "C",
          "start": 1560
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Arg296Ter",
        "hgvsWellDefined": "XP_005274663.1:p.Arg296_Trp964delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 711,
          "referenceAllele": "C",
          "start": 710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Arg204Ter",
        "hgvsWellDefined": "XP_005274664.1:p.Arg204_Trp872delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "C",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Arg351Ter",
        "hgvsWellDefined": "XP_011543893.1:p.Arg351_Arg1006delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Arg280Ter",
        "hgvsWellDefined": "XP_011543894.1:p.Arg280_Trp948delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1389,
          "referenceAllele": "C",
          "start": 1388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Arg351Ter",
        "hgvsWellDefined": "XP_011543895.1:p.Arg351_Thr931delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgValIleSerMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 830,
          "referenceAllele": "C",
          "start": 829
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Arg237Ter",
        "hgvsWellDefined": "XP_011543896.1:p.Arg237_Trp905delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 820,
          "referenceAllele": "C",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Arg237Ter",
        "hgvsWellDefined": "XP_011543897.1:p.Arg237_Trp905delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.1051C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:p.Arg351Ter",
        "hgvsWellDefined": "XP_011543898.1:p.Arg351_Glu836delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Arg204Ter",
        "hgvsWellDefined": "XP_011543899.1:p.Arg204_Trp835delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 54,
          "referenceAllele": "C",
          "start": 53
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.-80C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:n.-80C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1390,
          "referenceAllele": "C",
          "start": 1389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.1390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1294,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.935+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:n.935+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333455",
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Arg204Ter",
        "hgvsWellDefined": "NP_001317139.1:p.Arg204_Trp872delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1565,
          "referenceAllele": "C",
          "start": 1564
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.886C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Arg296Ter",
        "hgvsWellDefined": "XP_005274663.1:p.Arg296_Trp964delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1387,
          "referenceAllele": "C",
          "start": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.838C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Arg280Ter",
        "hgvsWellDefined": "XP_011543894.1:p.Arg280_Trp948delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 803,
          "referenceAllele": "C",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.709C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Arg237Ter",
        "hgvsWellDefined": "XP_011543896.1:p.Arg237_Trp905delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1445,
          "referenceAllele": "C",
          "start": 1444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Arg204Ter",
        "hgvsWellDefined": "XP_011543899.1:p.Arg204_Trp835delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 965,
          "referenceAllele": "C",
          "start": 964
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Arg204Ter",
        "hgvsWellDefined": "XP_016885398.1:p.Arg204_Trp872delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 83,
          "referenceAllele": "C",
          "start": 82
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.-40C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:n.-40C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1363,
          "referenceAllele": "C",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.-910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:n.-910C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1563,
          "referenceAllele": "C",
          "start": 1562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.-910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:n.-910C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1196,
          "referenceAllele": "C",
          "start": 1195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.-910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:n.-910C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.-910C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:n.-910C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499264309",
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.1030C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Arg344Ter",
        "hgvsWellDefined": "NP_003602.1:p.Arg344_Trp1012delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1030C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1030C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Arg344Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Arg344Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1259,
          "endIntronDirection": "+",
          "endIntronOffset": 1810,
          "referenceAllele": "C",
          "start": 1259,
          "startIntronDirection": "+",
          "startIntronOffset": 1809
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.935+1810C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:n.935+1810C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333455",
      "coordinates": [
        {
          "allele": "T",
          "end": 1479,
          "referenceAllele": "C",
          "start": 1478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.610C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Arg204Ter",
        "hgvsWellDefined": "NP_001317139.1:p.Arg204_Trp872delinsLysLeuLysAsnGluLeuLeuLysTyrGlnLeuGluLeuLysAspAspTyrIleIleArgThrAsnArgLeuIleGluAspGluArgLysAsnLysGluLysAlaValHisLeuGlnGluGluLeuIleAlaIleAsnSerLysLysGluGluLeuAsnGlnSerValAsnArgValLysGluLeuGluLeuGluLeuGluSerValLysAlaGlnSerLeuAlaIleThrLysGlnAsnHisMetLeuAsnGluLysValLysGluMetSerAspTyrSerLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}