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        "hgvsWellDefined": "ENSP00000369941.1:p.Ser298_Trp872delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272981"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1490,
          "referenceAllele": "C",
          "start": 1489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000398395.7:c.782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000381432.4:p.Ser261Ter",
        "hgvsWellDefined": "ENSP00000381432.4:p.Ser261_Pro338delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS278249"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2288,
          "referenceAllele": "C",
          "start": 2287
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "ENST00000490265.5:n.2288C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS328136"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.2:c.1313C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Ser438Ter",
        "hgvsWellDefined": "NP_003602.1:p.Ser438_Trp1012delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028841"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274599.2:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274656.1:p.Ser445Ter",
        "hgvsWellDefined": "XP_005274656.1:p.Ser445_Trp1019delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274602.2:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274659.1:p.Ser445Ter",
        "hgvsWellDefined": "XP_005274659.1:p.Ser445_Trp982delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068014"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1551,
          "referenceAllele": "C",
          "start": 1550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274603.2:c.1214C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274660.1:p.Ser405Ter",
        "hgvsWellDefined": "XP_005274660.1:p.Ser405_Trp979delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274604.2:c.1193C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274661.1:p.Ser398Ter",
        "hgvsWellDefined": "XP_005274661.1:p.Ser398_Trp972delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068016"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.2:c.1169C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Ser390Ter",
        "hgvsWellDefined": "XP_005274663.1:p.Ser390_Trp964delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068017"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 994,
          "referenceAllele": "C",
          "start": 993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274607.3:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274664.1:p.Ser298Ter",
        "hgvsWellDefined": "XP_005274664.1:p.Ser298_Trp872delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS068018"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1671,
          "referenceAllele": "C",
          "start": 1670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545591.1:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543893.1:p.Ser445Ter",
        "hgvsWellDefined": "XP_011543893.1:p.Ser445_Arg1006delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112491"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1666,
          "referenceAllele": "C",
          "start": 1665
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.1:c.1121C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Ser374Ter",
        "hgvsWellDefined": "XP_011543894.1:p.Ser374_Trp948delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112492"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545593.1:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543895.1:p.Ser445Ter",
        "hgvsWellDefined": "XP_011543895.1:p.Ser445_Thr931delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgValIleSerMetThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112493"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1113,
          "referenceAllele": "C",
          "start": 1112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.1:c.992C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Ser331Ter",
        "hgvsWellDefined": "XP_011543896.1:p.Ser331_Trp905delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112494"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545595.1:c.992C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543897.1:p.Ser331Ter",
        "hgvsWellDefined": "XP_011543897.1:p.Ser331_Trp905delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545596.1:c.1334C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543898.1:p.Ser445Ter",
        "hgvsWellDefined": "XP_011543898.1:p.Ser445_Glu836delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112496"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.1:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Ser298Ter",
        "hgvsWellDefined": "XP_011543899.1:p.Ser298_Trp835delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112497"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 171,
          "referenceAllele": "C",
          "start": 170
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545598.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543900.1:p.Ser13Ter",
        "hgvsWellDefined": "XP_011543900.1:p.Ser13_Trp587delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS112498"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1673,
          "referenceAllele": "C",
          "start": 1672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XR_247288.2:n.1673C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS117321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332666",
      "coordinates": [
        {
          "allele": "G",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.1:c.1193C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Ser398Ter",
        "hgvsWellDefined": "NP_001317138.1:p.Ser398_Trp972delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516609"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333557",
      "coordinates": [
        {
          "allele": "G",
          "end": 1797,
          "referenceAllele": "C",
          "start": 1796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.1:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Ser298Ter",
        "hgvsWellDefined": "NP_001317139.1:p.Ser298_Trp872delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516610"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1848,
          "referenceAllele": "C",
          "start": 1847
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_005274606.4:c.1169C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005274663.1:p.Ser390Ter",
        "hgvsWellDefined": "XP_005274663.1:p.Ser390_Trp964delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537647"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1670,
          "referenceAllele": "C",
          "start": 1669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545592.3:c.1121C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543894.1:p.Ser374Ter",
        "hgvsWellDefined": "XP_011543894.1:p.Ser374_Trp948delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1086,
          "referenceAllele": "C",
          "start": 1085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545594.3:c.992C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543896.1:p.Ser331Ter",
        "hgvsWellDefined": "XP_011543896.1:p.Ser331_Trp905delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1728,
          "referenceAllele": "C",
          "start": 1727
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_011545597.2:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011543899.1:p.Ser298Ter",
        "hgvsWellDefined": "XP_011543899.1:p.Ser298_Trp835delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029909.1:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885398.1:p.Ser298Ter",
        "hgvsWellDefined": "XP_016885398.1:p.Ser298_Trp872delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579390"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 493,
          "referenceAllele": "C",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_017029911.1:c.371C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016885400.1:p.Ser124Ter",
        "hgvsWellDefined": "XP_016885400.1:p.Ser124_Trp698delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS579391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2310,
          "referenceAllele": "C",
          "start": 2309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452468.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308236.1:p.Ser13Ter",
        "hgvsWellDefined": "XP_024308236.1:p.Ser13_Trp587delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2510,
          "referenceAllele": "C",
          "start": 2509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452469.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308237.1:p.Ser13Ter",
        "hgvsWellDefined": "XP_024308237.1:p.Ser13_Trp587delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585962"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452470.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308238.1:p.Ser13Ter",
        "hgvsWellDefined": "XP_024308238.1:p.Ser13_Trp587delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2267,
          "referenceAllele": "C",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "XM_024452471.1:c.38C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308239.1:p.Ser13Ter",
        "hgvsWellDefined": "XP_024308239.1:p.Ser13_Trp550delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluCysValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS585964"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891851060",
      "coordinates": [
        {
          "allele": "G",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_003611.3:c.1313C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_003602.1:p.Ser438Ter",
        "hgvsWellDefined": "NP_003602.1:p.Ser438_Trp1012delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666097",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000340096.11:c.1313C>G"
          },
          "RefSeq": {
            "hgvs": "NM_003611.3:c.1313C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344314.6:p.Ser438Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003602.1:p.Ser438Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827332666",
      "coordinates": [
        {
          "allele": "G",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330209.2:c.1193C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317138.1:p.Ser398Ter",
        "hgvsWellDefined": "NP_001317138.1:p.Ser398_Trp972delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827333557",
      "coordinates": [
        {
          "allele": "G",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002567",
      "geneNCBI_id": 8481,
      "geneSymbol": "OFD1",
      "hgvs": [
        "NM_001330210.2:c.893C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001317139.1:p.Ser298Ter",
        "hgvsWellDefined": "NP_001317139.1:p.Ser298_Trp872delinsLeuLeuLysGluGluLysLeuGluLeuLeuAlaGlnAsnLysLeuLeuLysGlnGlnLeuGluGluSerArgAsnGluAsnLeuArgLeuLeuAsnArgLeuAlaGlnProAlaProGluLeuAlaValPheGlnLysGluLeuArgLysAlaGluLysAlaIleValValGluHisGluGluPheGluSerCysArgGlnAlaLeuHisLysGlnLeuGlnAspGluIleGluHisSerAlaGlnLeuLysAlaGlnIleLeuGlyTyrLysAlaSerValLysSerLeuThrThrGlnValAlaAspLeuLysLeuGlnLeuLysGlnThrGlnThrAlaLeuGluAsnGluValTyrCysAsnProLysGlnSerValIleAspArgSerValAsnGlyLeuIleAsnGlyAsnValValProCysAsnGlyGluIleSerGlyAspPheLeuAsnAsnProPheLysGlnGluAsnValLeuAlaArgMetValAlaSerArgIleThrAsnTyrProThrAlaTrpValGluGlySerSerProAspSerAspLeuGluPheValAlaAsnThrLysAlaArgValLysGluLeuGlnGlnGluAlaGluArgLeuGluLysAlaPheArgSerTyrHisArgArgValIleLysAsnSerAlaLysSerProLeuAlaAlaLysSerProProSerLeuHisLeuLeuGluAlaPheLysAsnIleThrSerSerSerProGluArgHisIlePheGlyGluAspArgValValSerGluGlnProGlnValGlyThrLeuGluGluArgAsnAspValValGluAlaLeuThrGlySerAlaAlaSerArgLeuArgGlyGlyThrSerSerArgArgLeuSerSerThrProLeuProLysAlaLysArgSerLeuGluSerGluMetTyrLeuGluGlyLeuGlyArgSerHisIleAlaSerProSerProCysProAspArgMetProLeuProSerProThrGluSerArgHisSerLeuSerIleProProValSerSerProProGluGlnLysValGlyLeuTyrArgArgGlnThrGluLeuGlnAspLysSerGluPheSerAspValAspLysLeuAlaPheLysAspAsnGluGluPheGluSerSerPheGluSerAlaGlyAsnMetProArgGlnLeuGluMetGlyGlyLeuSerProAlaGlyAspMetSerHisValAspAlaAlaAlaAlaAlaValProLeuSerTyrGlnHisProSerValAspGlnLysGlnIleGluGluGlnLysGluGluGluLysIleArgGluGlnGlnValLysGluArgArgGlnArgGluGluArgArgGlnSerAsnLeuGlnGluValLeuGluArgGluArgArgGluLeuGluLysLeuTyrGlnGluArgLysMetIleGluGluSerLeuLysIleLysIleLysLysGluLeuGluMetGluAsnGluLeuGluMetSerAsnGlnGluIleLysAspLysSerAlaHisSerGluAsnProLeuGluLysTyrMetLysIleIleGlnGlnGluGlnAspGlnGluSerAlaAspLysSerSerLysLysMetValGlnGluGlySerLeuValAspThrLeuGlnSerSerAspLysValGluSerLeuThrGlyPheSerHisGluGluLeuAspAspSerTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS718632"
    }
  ],
  "type": "nucleotide"
}