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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA222020",
  "communityStandardTitle": [
    "NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)"
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  "externalRecords": {
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        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=693711",
        "active": true,
        "id": "COSM693711"
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=693712",
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      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=100076[alleleid]",
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        "preferredName": "NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/94176",
        "RCV": [
          "RCV000146172",
          "RCV000688592",
          "RCV002243708"
        ],
        "variationId": 94176
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49421039G>A?assembly=hg19",
        "id": "chr12:g.49421039G>A"
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.49027256G>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/398123721",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254955"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222021",
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      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg4904Ter",
        "hgvsWellDefined": "NP_003473.3:p.Arg4904_Asn5537delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS028721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16004,
          "referenceAllele": "C",
          "start": 16003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_005269162.3:c.14710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005269219.1:p.Arg4904Ter",
        "hgvsWellDefined": "XP_005269219.1:p.Arg4904_Asn5537delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066041"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16013,
          "referenceAllele": "C",
          "start": 16012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719614.2:c.14719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719677.1:p.Arg4907Ter",
        "hgvsWellDefined": "XP_006719677.1:p.Arg4907_Asn5540delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073234"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16000,
          "referenceAllele": "C",
          "start": 15999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.2:c.14707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg4903Ter",
        "hgvsWellDefined": "XP_006719679.1:p.Arg4903_Asn5536delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS073235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16020,
          "referenceAllele": "C",
          "start": 16019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538770.1:c.14719C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537072.1:p.Arg4907Ter",
        "hgvsWellDefined": "XP_011537072.1:p.Arg4907_Asn5556delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16017,
          "referenceAllele": "C",
          "start": 16016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538771.1:c.14716C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537073.1:p.Arg4906Ter",
        "hgvsWellDefined": "XP_011537073.1:p.Arg4906_Asn5555delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16010,
          "referenceAllele": "C",
          "start": 16009
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538772.1:c.14710C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537074.1:p.Arg4904Ter",
        "hgvsWellDefined": "XP_011537074.1:p.Arg4904_Asn5553delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105726"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16007,
          "referenceAllele": "C",
          "start": 16006
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_011538773.1:c.14707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011537075.1:p.Arg4903Ter",
        "hgvsWellDefined": "XP_011537075.1:p.Arg4903_Asn5552delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16000,
          "referenceAllele": "C",
          "start": 15999
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
        "XM_011538774.1:c.14698C>T"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15957,
          "referenceAllele": "C",
          "start": 15956
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      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15927,
          "referenceAllele": "C",
          "start": 15926
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS105730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 16972,
          "endIntronDirection": "+",
          "endIntronOffset": 547,
          "referenceAllele": "C",
          "start": 16972,
          "startIntronDirection": "+",
          "startIntronOffset": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XR_944740.1:n.16972+547C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS138562"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15989,
          "referenceAllele": "C",
          "start": 15988
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005269219.1:p.Arg4904_Asn5537delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15999,
          "referenceAllele": "C",
          "start": 15998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006719677.1:p.Arg4907_Asn5540delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15986,
          "referenceAllele": "C",
          "start": 15985
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
      "geneSymbol": "KMT2D",
      "hgvs": [
        "XM_006719616.3:c.14707C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006719679.1:p.Arg4903Ter",
        "hgvsWellDefined": "XP_006719679.1:p.Arg4903_Asn5536delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539913"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "start": 16000
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      "referenceSequence": "http://reg.genome.network/refseq/RS553412"
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        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS553413"
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      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS553414"
    },
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      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN007133",
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      "referenceSequence": "http://reg.genome.network/refseq/RS553415"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 15980
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
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      "referenceSequence": "http://reg.genome.network/refseq/RS553416"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15908,
          "referenceAllele": "C",
          "start": 15907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011537078.1:p.Arg4876_Asn5525delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgValPheThrSerIleIleSerPheAspProHisAsnAsnLeuMetArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS553417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 15961,
          "endIntronDirection": "+",
          "endIntronOffset": 547,
          "referenceAllele": "C",
          "start": 15961,
          "startIntronDirection": "+",
          "startIntronOffset": 546
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
      "geneNCBI_id": 8085,
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS596813"
    },
    {
      "@id": "http://reg.genome.network/allele/PA222021",
      "coordinates": [
        {
          "allele": "T",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN007133",
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      "hgvs": [
        "NM_003482.4:c.14710C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003473.3:p.Arg4904Ter",
        "hgvsWellDefined": "NP_003473.3:p.Arg4904_Asn5537delinsGlnLeuSerAlaProProProGluGluProSerProProProSerProLeuAlaProSerProAlaSerProProThrGluProLeuValGluLeuProThrGluProLeuAlaGluProProValProSerProLeuProLeuAlaSerSerProGluSerAlaArgProLysProArgAlaArgProProGluGluGlyGluAspSerArgProProArgLeuLysLysTrpLysGlyValArgTrpLysArgLeuArgLeuLeuLeuThrIleGlnLysGlySerGlyArgGlnGluAspGluArgGluValAlaGluPheMetGluGlnLeuGlyThrAlaLeuArgProAspLysValProArgAspMetArgArgCysCysPheCysHisGluGluGlyAspGlyAlaThrAspGlyProAlaArgLeuLeuAsnLeuAspLeuAspLeuTrpValHisLeuAsnCysAlaLeuTrpSerThrGluValTyrGluThrGlnGlyGlyAlaLeuMetAsnValGluValAlaLeuHisArgGlyLeuLeuThrLysCysSerLeuCysGlnArgThrGlyAlaThrSerSerCysAsnArgMetArgCysProAsnValTyrHisPheAlaCysAlaIleArgAlaLysCysMetPhePheLysAspLysThrMetLeuCysProMetHisLysIleLysGlyProCysGluGlnGluLeuSerSerPheAlaValPheArgArgValTyrIleGluArgAspGluValLysGlnIleAlaSerIleIleGlnArgGlyGluArgLeuHisMetPheArgValGlyGlyLeuValPheHisAlaIleGlyGlnLeuLeuProHisGlnMetAlaAspPheHisSerAlaThrAlaLeuTyrProValGlyTyrGluAlaThrArgIleTyrTrpSerLeuArgThrAsnAsnArgArgCysCysTyrArgCysSerIleGlyGluAsnAsnGlyArgProGluPheValIleLysValIleGluGlnGlyLeuGluAspLeuValPheThrAspAlaSerProGlnAlaValTrpAsnArgIleIleGluProValAlaAlaMetArgLysGluAlaAspMetLeuArgLeuPheProGluTyrLeuLysGlyGluGluLeuPheGlyLeuThrValHisAlaValLeuArgIleAlaGluSerLeuProGlyValGluSerCysGlnAsnTyrLeuPheArgTyrGlyArgHisProLeuMetGluLeuProLeuMetIleAsnProThrGlyCysAlaArgSerGluProLysIleLeuThrHisTyrLysArgProHisThrLeuAsnSerThrSerMetSerLysAlaTyrGlnSerThrPheThrGlyGluThrAsnThrProTyrSerLysGlnPheValHisSerLysSerSerGlnTyrArgArgLeuArgThrGluTrpLysAsnAsnValTyrLeuAlaArgSerArgIleGlnGlyLeuGlyLeuTyrAlaAlaLysAspLeuGluLysHisThrMetValIleGluTyrIleGlyThrIleIleArgAsnGluValAlaAsnArgArgGluLysIleTyrGluGluGlnAsnArgGlyIleTyrMetPheArgIleAsnAsnGluHisValIleAspAlaThrLeuThrGlyGlyProAlaArgTyrIleAsnHisSerCysAlaProAsnCysValAlaGluValValThrPheAspLysGluAspLysIleIleIleIleSerSerArgArgIleProLysGlyGluGluLeuThrTyrAspTyrGlnPheAspPheGluAspAspGlnHisLysIleProCysHisCysGlyAlaTrpAsnCysArgLysTrpMetAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695846",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000301067.12:c.14710C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003482.4:c.14710C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000301067.7:p.Arg4904Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003473.3:p.Arg4904Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}