{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA394815859",
  "communityStandardTitle": [
    "NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1063505[alleleid]",
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        "preferredName": "NM_005236.3(ERCC4):c.22C>T (p.Arg8Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1075759",
        "RCV": [
          "RCV001389442"
        ],
        "variationId": 1075759
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.14014044C>T?assembly=hg19",
        "id": "chr16:g.14014044C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.13920187C>T?assembly=hg38",
        "id": "chr16:g.13920187C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774510191",
        "rs": 774510191
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13920187-C-T?dataset=gnomad_r3",
        "id": "16-13920187-C-T",
        "variant": "16:13920187 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/16-13920187-C-T?dataset=gnomad_r4",
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        "variant": "16:13920187 C / T"
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    ]
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    {
      "chromosome": "16",
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        {
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          "end": 13920187,
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      "hgvs": [
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      "referenceGenome": "GRCh38",
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    },
    {
      "chromosome": "16",
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    },
    {
      "chromosome": "16",
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        {
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      ],
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      "referenceGenome": "NCBI36",
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        {
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        "LRG_463:g.5031C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001720"
    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
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      "geneNCBI_id": 2072,
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      "hgvs": [
        "ENST00000682552.1:n.10C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS827542"
    },
    {
      "coordinates": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827606"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31,
          "referenceAllele": "C",
          "start": 30
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS827814"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS827897"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN003436",
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      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683277.1:n.9C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS828258"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 29
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000683407.1:n.30C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS828384"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 34,
          "referenceAllele": "C",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506854.1:p.Arg8Ter",
        "hgvsWellDefined": "ENSP00000506854.1:p.Arg9_Arg137delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyArgValLeuLysIleAspArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000310520.7:p.Arg9_Lys916delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745755",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.22C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.22C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Arg8Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Arg8Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31,
          "referenceAllele": "C",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000311895.7:c.22C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000310520.7:p.Arg8Ter",
        "hgvsWellDefined": "ENSP00000310520.7:p.Arg9_Lys916delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256598"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 31,
          "referenceAllele": "C",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "ENST00000575156.5:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459933.1:p.Arg8Ter",
        "hgvsWellDefined": "ENSP00000459933.1:p.Arg9_Gly372delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGlyIleLeuTrpGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS383997"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270505",
      "coordinates": [
        {
          "allele": "T",
          "end": 31,
          "referenceAllele": "C",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.2:c.22C>T",
        "LRG_463t1:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Arg8Ter",
        "hgvsWellDefined": "NP_005227.1:p.Arg9_Lys916delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "referenceAllele": "C",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.1:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Arg8Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Arg9_Lys962delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGluIleLeuProLeuThrCysGlnLysHisProThrProGlyProValProSerLeuSerProGlnProGlySerLeuGluLeuSerTrpProArgTrpSerGlnGlySerIleGlnProLeuPheArgTyrHisLeuGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS089576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 43,
          "referenceAllele": "C",
          "start": 42
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XR_932805.1:n.43C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128721"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 6338,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 6337
        }
      ],
      "hgvs": [
        "XR_933098.1:n.82+6338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128880"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 6338,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 6337
        }
      ],
      "hgvs": [
        "XR_933099.1:n.82+6338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 82,
          "endIntronDirection": "+",
          "endIntronOffset": 6338,
          "referenceAllele": "G",
          "start": 82,
          "startIntronDirection": "+",
          "startIntronOffset": 6337
        }
      ],
      "hgvs": [
        "XR_933100.1:n.82+6338G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS128882"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 51,
          "referenceAllele": "C",
          "start": 50
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_011522424.3:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011520726.1:p.Arg8Ter",
        "hgvsWellDefined": "XP_011520726.1:p.Arg9_Lys962delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGluIleLeuProLeuThrCysGlnLysHisProThrProGlyProValProSerLeuSerProGlnProGlySerLeuGluLeuSerTrpProArgTrpSerGlnGlySerIleGlnProLeuPheArgTyrHisLeuGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546577"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5,
          "referenceAllele": "C",
          "start": 4
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "XM_017023043.2:c.-916C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878532.1:n.-916C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573869"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499270505",
      "coordinates": [
        {
          "allele": "T",
          "end": 34,
          "referenceAllele": "C",
          "start": 33
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003436",
      "geneNCBI_id": 2072,
      "geneSymbol": "ERCC4",
      "hgvs": [
        "NM_005236.3:c.22C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005227.1:p.Arg8Ter",
        "hgvsWellDefined": "NP_005227.1:p.Arg9_Lys916delinsIleAlaMetAlaProLeuLeuGluTyrGluArgGlnLeuValLeuGluLeuLeuAspThrAspGlyLeuValValCysAlaArgGlyLeuGlyAlaAspArgLeuLeuTyrHisPheLeuGlnLeuHisCysHisProAlaCysLeuValLeuValLeuAsnThrGlnProAlaGluGluGluTyrPheIleAsnGlnLeuLysIleGluGlyValGluHisLeuProArgArgValThrAsnGluIleThrSerAsnSerArgTyrGluValTyrThrGlnGlyGlyValIlePheAlaThrSerArgIleLeuValValAspPheLeuThrAspArgIleProSerAspLeuIleThrGlyIleLeuValTyrArgAlaHisArgIleIleGluSerCysGlnGluAlaPheIleLeuArgLeuPheArgGlnLysAsnLysArgGlyPheIleLysAlaPheThrAspAsnAlaValAlaPheAspThrGlyPheCysHisValGluArgValMetArgAsnLeuPheValArgLysLeuTyrLeuTrpProArgPheHisValAlaValAsnSerPheLeuGluGlnHisLysProGluValValGluIleHisValSerMetThrProThrMetLeuAlaIleGlnThrAlaIleLeuAspIleLeuAsnAlaCysLeuLysGluLeuLysCysHisAsnProSerLeuGluValGluAspLeuSerLeuGluAsnAlaIleGlyLysProPheAspLysThrIleArgHisTyrLeuAspProLeuTrpHisGlnLeuGlyAlaLysThrLysSerLeuValGlnAspLeuLysIleLeuArgThrLeuLeuGlnTyrLeuSerGlnTyrAspCysValThrPheLeuAsnLeuLeuGluSerLeuArgAlaThrGluLysAlaPheGlyGlnAsnSerGlyTrpLeuPheLeuAspSerSerThrSerMetPheIleAsnAlaArgAlaArgValTyrHisLeuProAspAlaLysMetSerLysLysGluLysIleSerGluLysMetGluIleLysGluGlyGluGluThrLysLysGluLeuValLeuGluSerAsnProLysTrpGluAlaLeuThrGluValLeuLysGluIleGluAlaGluAsnLysGluSerGluAlaLeuGlyGlyProGlyGlnValLeuIleCysAlaSerAspAspArgThrCysSerGlnLeuArgAspTyrIleThrLeuGlyAlaGluAlaPheLeuLeuArgLeuTyrArgLysThrPheGluLysAspSerLysAlaGluGluValTrpMetLysPheArgLysGluAspSerSerLysArgIleArgLysSerHisLysArgProLysAspProGlnAsnLysGluArgAlaSerThrLysGluArgThrLeuLysLysLysLysArgLysLeuThrLeuThrGlnMetValGlyLysProGluGluLeuGluGluGluGlyAspValGluGluGlyTyrArgArgGluIleSerSerSerProGluSerCysProGluGluIleLysHisGluGluPheAspValAsnLeuSerSerAspAlaAlaPheGlyIleLeuLysGluProLeuThrIleIleHisProLeuLeuGlyCysSerAspProTyrAlaLeuThrArgValLeuHisGluValGluProArgTyrValValLeuTyrAspAlaGluLeuThrPheValArgGlnLeuGluIleTyrArgAlaSerArgProGlyLysProLeuArgValTyrPheLeuIleTyrGlyGlySerThrGluGluGlnArgTyrLeuThrAlaLeuArgLysGluLysGluAlaPheGluLysLeuIleArgGluLysAlaSerMetValValProGluGluArgGluGlyArgAspGluThrAsnLeuAspLeuValArgGlyThrAlaSerAlaAspValSerThrAspThrArgLysAlaGlyGlyGlnGluGlnAsnGlyThrGlnGlnSerIleValValAspMetArgGluPheArgSerGluLeuProSerLeuIleHisArgArgGlyIleAspIleGluProValThrLeuGluValGlyAspTyrIleLeuThrProGluMetCysValGluArgLysSerIleSerAspLeuIleGlySerLeuAsnAsnGlyArgLeuTyrSerGlnCysIleSerMetSerArgTyrTyrLysArgProValLeuLeuIleGluPheAspProSerLysProPheSerLeuThrSerArgGlyAlaLeuPheGlnGluIleSerSerAsnAspIleSerSerLysLeuThrLeuLeuThrLeuHisPheProArgLeuArgIleLeuTrpCysProSerProHisAlaThrAlaGluLeuPheGluGluLeuLysGlnSerLysProGlnProAspAlaAlaThrAlaLeuAlaIleThrAlaAspSerGluThrLeuProGluSerGluLysTyrAsnProGlyProGlnAspPheLeuLeuLysMetProGlyValAsnAlaLysAsnCysArgSerLeuMetHisHisValLysAsnIleAlaGluLeuAlaAlaLeuSerGlnAspGluLeuThrSerIleLeuGlyAsnAlaAlaAsnAlaLysGlnLeuTyrAspPheIleHisThrSerPheAlaGluValValSerLysGlyLysGlyLysLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696357",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311895.8:c.22C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005236.3:c.22C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000310520.7:p.Arg8Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005227.1:p.Arg8Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}