{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16044302",
  "communityStandardTitle": [
    "NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362313[alleleid]",
        "alleleId": 362313,
        "preferredName": "NM_001375380.1(EBF3):c.616C>T (p.Arg206Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375503",
        "RCV": [
          "RCV000417012",
          "RCV000495975",
          "RCV000505244"
        ],
        "variationId": 375503
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.131676052G>A?assembly=hg19",
        "id": "chr10:g.131676052G>A"
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr10:g.129877788G>A?assembly=hg38",
        "id": "chr10:g.129877788G>A"
      }
    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519522",
        "rs": 1057519522
      }
    ]
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      "chromosome": "10",
      "coordinates": [
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      "referenceGenome": "GRCh38",
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    },
    {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "10",
      "coordinates": [
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      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000010"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
        "NG_030038.1:g.91040C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS004863"
    }
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  "transcriptAlleles": [
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS748654"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750244"
    },
    {
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        {
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        "hgvsWellDefined": "ENSP00000387543.2:p.Arg206_Trp629delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755822",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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          "RefSeq": {
            "hgvs": "NM_001375380.1:c.616C>T"
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        },
        "protein": {
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        }
      }
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    {
      "coordinates": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS775203"
    },
    {
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        "hgvsWellDefined": "ENSP00000347463.4:p.Arg206_Met596delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS263400"
    },
    {
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        "hgvsWellDefined": "ENSP00000357637.3:p.Arg206_Met551delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267082"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645422745",
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        {
          "allele": "T",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
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        "hgvsWellDefined": "NP_001005463.1:p.Arg206_Met551delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007715"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005252724.1:p.Arg206_Trp620delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060024"
    },
    {
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        {
          "allele": "T",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005252725.1:p.Arg206_Met596delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
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      "geneSymbol": "EBF3",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_005252726.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_005252726.1:p.Arg206_Met587delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060026"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717739.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717802.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717802.1:p.Arg206_Trp629delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072307"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717740.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717803.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717803.1:p.Arg206_Trp628delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072308"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717741.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717804.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717804.1:p.Arg206_Gln596delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAspThrThrPheGlyIleCysSerSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072309"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717742.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717805.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717805.1:p.Arg206_Trp593delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072310"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717743.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717806.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717806.1:p.Arg206_Met560delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072311"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717744.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717807.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717807.1:p.Arg206_Trp530delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS072312"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1129,
          "referenceAllele": "C",
          "start": 1128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_011539574.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537876.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_011537876.1:p.Arg206_Trp534delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106524"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 137,
          "referenceAllele": "C",
          "start": 136
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_011539575.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537877.1:p.Arg34Ter",
        "hgvsWellDefined": "XP_011537877.1:p.Arg34_Trp457delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106525"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_011539576.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537878.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_011537878.1:p.Arg206_Val380delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGlyArgGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106526"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_005252667.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252724.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_005252724.1:p.Arg206_Trp620delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533840"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_005252668.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252725.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_005252725.1:p.Arg206_Met596delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533841"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_005252669.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005252726.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_005252726.1:p.Arg206_Met587delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533842"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717739.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717802.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717802.1:p.Arg206_Trp629delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539473"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717740.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717803.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717803.1:p.Arg206_Trp628delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539474"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717741.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717804.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717804.1:p.Arg206_Gln596delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAspThrThrPheGlyIleCysSerSerGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717742.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717805.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717805.1:p.Arg206_Trp593delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539476"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717743.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717806.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717806.1:p.Arg206_Met560delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539477"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_006717744.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006717807.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_006717807.1:p.Arg206_Trp530delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539478"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_011539574.2:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537876.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_011537876.1:p.Arg206_Trp534delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 116,
          "referenceAllele": "C",
          "start": 115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_011539575.2:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537877.1:p.Arg34Ter",
        "hgvsWellDefined": "XP_011537877.1:p.Arg34_Trp457delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XM_017016027.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016871516.1:p.Arg206Ter",
        "hgvsWellDefined": "XP_016871516.1:p.Arg206_Met497delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS568576"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "XR_001747076.1:n.1122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS595289"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645422745",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001005463.3:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001005463.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001005463.1:p.Arg206_Met551delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675195"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828589361",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001375379.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362308.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001362308.1:p.Arg206_Met596delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693501"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828589522",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001375380.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362309.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001362309.1:p.Arg206_Trp629delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyIleValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693502",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000440978.2:c.616C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001375380.1:c.616C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000387543.2:p.Arg206Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001362309.1:p.Arg206Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828589723",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001375389.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362318.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001362318.1:p.Arg206_Trp593delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693504"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828589883",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001375390.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362319.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001362319.1:p.Arg206_Trp584delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnGlySerLeuLeuGlyAlaGluAspValAlaAlaGluLysThrAsnTrpProPheCysGluValGlyGlyIlePheHisPheAspGluLeuMetLeuLysLysGlyThrGlyLysLeuCysLeuGlyTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693505"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828590043",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001375391.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362320.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001362320.1:p.Arg206_Met560delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluGlyThrAlaProSerTyrLeuGluAsnAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValGlyTyrSerArgAsnThrSerSerValSerProArgGlyTyrValProSerSerThrProGlnGlnSerAsnTyrAsnThrValSerThrSerMetAsnGlyTyrGlySerGlyAlaMetAlaSerLeuGlyValProGlySerProGlyPheLeuAsnGlySerSerAlaAsnSerProTyrGlyMetLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693506"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499255468",
      "coordinates": [
        {
          "allele": "T",
          "end": 1122,
          "referenceAllele": "C",
          "start": 1121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019087",
      "geneNCBI_id": 253738,
      "geneSymbol": "EBF3",
      "hgvs": [
        "NM_001375392.1:c.616C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001362321.1:p.Arg206Ter",
        "hgvsWellDefined": "NP_001362321.1:p.Arg206_Met524delinsAspMetArgArgPheGlnValValValSerThrThrValAsnValAspGlyHisValLeuAlaValSerAspAsnMetPheValHisAsnAsnSerLysHisGlyArgArgAlaArgArgLeuAspProSerGluAlaThrProCysIleLysAlaIleSerProSerGluGlyTrpThrThrGlyGlyAlaThrValIleIleIleGlyAspAsnPhePheAspGlyLeuGlnValValPheGlyThrMetLeuValTrpSerGluLeuIleThrProHisAlaIleArgValGlnThrProProArgHisIleProGlyValValGluValThrLeuSerTyrLysSerLysGlnPheCysLysGlyAlaProGlyArgPheValTyrThrAlaLeuAsnGluProThrIleAspTyrGlyPheGlnArgLeuGlnLysValIleProArgHisProGlyAspProGluArgLeuProLysGluValLeuLeuLysArgAlaAlaAspLeuValGluAlaLeuTyrGlyMetProHisAsnAsnGlnGluIleIleLeuLysArgAlaAlaAspIleAlaGluAlaLeuTyrSerValProArgAsnHisAsnGlnIleProThrLeuGlyAsnAsnProAlaHisThrGlyMetMetGlyValAsnSerPheSerSerGlnLeuAlaValAsnValSerGluThrSerGlnAlaAsnAspGlnValValProSerSerProThrMetAlaAlaSerSerValThrLeuProSerAsnCysSerSerThrHisGlyIlePheSerPheSerProAlaAsnValIleSerAlaValLysGlnLysSerAlaPheAlaProValValArgProGlnAlaSerProProProSerCysThrSerAlaAsnGlyAsnGlyLeuGlnAlaMetSerGlyLeuValValProProMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693507"
    }
  ],
  "type": "nucleotide"
}