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        "hgvsWellDefined": "XP_011517326.1:p.Arg295_Leu1275delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086197"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519025.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517327.1:p.Arg260Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086198"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519026.1:c.880C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517328.1:p.Arg294Ter",
        "hgvsWellDefined": "XP_011517328.1:p.Arg295_Leu1253delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086199"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519027.1:c.880C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517329.1:p.Arg294Ter",
        "hgvsWellDefined": "XP_011517329.1:p.Arg295_Pro930delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnAspAspGlyThrMetLysArgGlyAlaLeuSerArgGlnLysGluGluLysArgGluAlaGluGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519028.1:c.880C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517330.1:p.Arg294Ter",
        "hgvsWellDefined": "XP_011517330.1:p.Arg295_Trp811delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086201"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_011519033.1:c.859C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011517335.1:p.Arg287Ter",
        "hgvsWellDefined": "XP_011517335.1:p.Arg288_Leu1246delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS086206"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827813422",
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354259.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341188.1:p.Arg260Ter",
        "hgvsWellDefined": "NP_001341188.1:p.Arg261_Leu825delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysIleGlnLysThrSerLysValTyrThrGluSerGlnGluThrGlnArgSerGlnThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522267"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354263.1:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341192.1:p.Arg284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522271"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827884079",
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
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      "referenceSequence": "http://reg.genome.network/refseq/RS567941"
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      "referenceSequence": "http://reg.genome.network/refseq/RS581255"
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    {
      "coordinates": [
        {
          "allele": "T",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581256"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS581257"
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    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS581258"
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        {
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      "proteinEffect": {
        "hgvs": "XP_024303446.1:p.Arg260Ter",
        "hgvsWellDefined": "XP_024303446.1:p.Arg261_Pro896delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnAspAspGlyThrMetLysArgGlyAlaLeuSerArgGlnLysGluGluLysArgGluAlaGluGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "C",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447679.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303447.1:p.Arg260Ter",
        "hgvsWellDefined": "XP_024303447.1:p.Arg261_Ser852delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnIleArgSerCysGluHisPheGlnAlaGluProArgArgLeuGlnValLeuGlnAlaGlyLysProLysValGluGlyLeuProLeuValThrTyrGlyGluAspLeuValLeuPheProAsnThrAlaArgAsnHisAlaLysArgLysMetLeuGlnHisSerLeuAlaValAspGlnAlaAlaHisArgGluGlnValHisSerTrpGlyLeuThrProProPheArgGluAlaTrpLeuHisLeuHisSerLeuValAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581260"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 829,
          "referenceAllele": "C",
          "start": 828
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "XM_024447680.1:c.757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303448.1:p.Arg253Ter",
        "hgvsWellDefined": "XP_024303448.1:p.Arg254_Leu1212delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysAspAlaGluGlySerThrCysLeuHisLeuAlaAlaLysLysGlyHisTyrGluValValGlnTyrLeuLeuSerAsnGlyGlnMetAspValAsnCysGlnAspAspGlyGlyTrpThrProMetIleTrpAlaThrGluTyrLysHisValAspLeuValLysLeuLeuLeuSerLysGlySerAspIleAsnIleArgAspAsnGluGluAsnIleCysLeuHisTrpAlaAlaPheSerGlyCysValAspIleAlaGluIleLeuLeuAlaAlaLysCysAspLeuHisAlaValAsnIleHisGlyAspSerProLeuHisIleAlaAlaArgGluAsnArgTyrAspCysValValLeuPheLeuSerArgAspSerAspValThrLeuLysAsnLysGluGlyGluThrProLeuGlnCysAlaSerLeuAsnSerGlnValTrpSerAlaLeuGlnMetSerLysAlaLeuGlnAspSerAlaProAspArgProSerProValGluArgIleValSerArgAspIleAlaArgGlyTyrGluArgIleProIleProCysValAsnAlaValAspSerGluProCysProSerAsnTyrLysTyrValSerGlnAsnCysValThrSerProMetAsnIleAspArgAsnIleThrHisLeuGlnTyrCysValCysIleAspAspCysSerSerSerAsnCysMetCysGlyGlnLeuSerMetArgCysTrpTyrAspLysAspGlyArgLeuLeuProGluPheAsnMetAlaGluProProLeuIlePheGluCysAsnHisAlaCysSerCysTrpArgAsnCysArgAsnArgValValGlnAsnGlyLeuArgAlaArgLeuGlnLeuTyrArgThrArgAspMetGlyTrpGlyValArgSerLeuGlnAspIleProProGlyThrPheValCysGluTyrValGlyGluLeuIleSerAspSerGluAlaAspValArgGluGluAspSerTyrLeuPheAspLeuAspAsnLysAspGlyGluValTyrCysIleAspAlaArgPheTyrGlyAsnValSerArgPheIleAsnHisHisCysGluProAsnLeuValProValArgValPheMetAlaHisGlnAspLeuArgPheProArgIleAlaPhePheSerThrArgLeuIleGluAlaGlyGluGlnLeuGlyPheAspTyrGlyGluArgPheTrpAspIleLysGlyLysLeuPheSerCysArgCysGlySerProLysCysArgHisSerSerAlaAlaLeuAlaGlnArgGlnAlaSerAlaAlaGlnGluAlaGlnGluAspGlyLeuProAspThrSerSerAlaAlaAlaAlaAspProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS581261"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_024757.5:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_079033.4:p.Arg291Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670782",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000460843.6:c.871C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024757.5:c.871C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000417980.1:p.Arg291Ter"
          },
          "RefSeq": {
            "hgvs": "NP_079033.4:p.Arg291Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825895258",
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001145527.2:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001138999.1:p.Arg291Ter",
        "hgvsWellDefined": "NP_001138999.1:p.Arg292_Trp808delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnPheCysArgLeuGlySerProArgSerArgGlyCysLeuTrpTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827813422",
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354259.2:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341188.1:p.Arg260Ter",
        "hgvsWellDefined": "NP_001341188.1:p.Arg261_Leu825delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluLeuGlyArgCysThrAsnSerValValLysTyrGluLeuMetArgProSerAsnLysAlaProLeuLeuValLeuCysGluAspHisArgGlyArgMetValLysHisGlnCysCysProGlyCysGlyTyrPheCysThrAlaGlyAsnPheMetGluCysGlnProGluSerSerIleSerHisArgPheHisLysAspCysAlaSerArgValAsnAsnAlaSerTyrCysProHisCysGlyGluGluSerSerLysAlaLysGluValThrIleAlaLysAlaAspThrThrSerThrValThrProValProGlyGlnGluLysGlySerAlaLeuGluGlyArgAlaAspThrThrThrGlySerAlaAlaGlyProProLeuSerGluAspAspLysLeuGlnGlyAlaAlaSerHisValProGluGlyPheAspProThrGlyProAlaGlyLeuGlyArgProThrProGlyLeuSerGlnGlyProGlyLysGluThrLeuGluSerAlaLeuIleAlaLeuAspSerGluLysProLysLysLeuArgPheHisProLysGlnLeuTyrPheSerAlaArgGlnGlyGluLeuGlnLysValLeuLeuMetLeuValAspGlyIleAspProAsnPheLysMetGluHisGlnAsnLysArgSerProLeuHisAlaAlaAlaGluAlaGlyHisValAspIleCysHisMetLeuValGlnAlaGlyAlaAsnIleAspThrCysSerGluAspGlnArgThrProLeuMetGluAlaAlaGluAsnAsnHisLeuGluAlaValLysTyrLeuIleLysAlaGlyAlaLeuValAspProLysIleGlnLysThrSerLysValTyrThrGluSerGlnGluThrGlnArgSerGlnThrIleLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690126"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 874,
          "referenceAllele": "C",
          "start": 873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354263.2:c.850C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341192.1:p.Arg284Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690127"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827884079",
      "coordinates": [
        {
          "allele": "T",
          "end": 895,
          "referenceAllele": "C",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354611.2:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341540.1:p.Arg291Ter",
        "hgvsWellDefined": "NP_001341540.1:p.Arg292_Ile556delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluValSerThrPheValPheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690254"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827884665",
      "coordinates": [
        {
          "allele": "T",
          "end": 831,
          "referenceAllele": "C",
          "start": 830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024650",
      "geneNCBI_id": 79813,
      "geneSymbol": "EHMT1",
      "hgvs": [
        "NM_001354612.2:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341541.1:p.Arg260Ter",
        "hgvsWellDefined": "NP_001341541.1:p.Arg261_Ile525delinsMetGlyThrTyrSerLeuValProLysLysLysThrLysValLeuLysGlnArgThrValIleGluMetPheLysSerIleThrHisSerThrValGlySerLysGlyGluLysAspLeuGlyAlaSerSerLeuHisValAsnGlyGluSerLeuGluMetAspSerAspGluAspAspSerGluGluLeuGluGluAspAspGlyHisGlyAlaGluGlnAlaAlaAlaPheProThrGluAspSerArgThrSerLysGluSerMetSerGluAlaAspArgAlaGlnLysMetAspGlyGluSerGluGluGluGlnGluSerValAspThrGlyGluGluGluGluGlyGlyAspGluSerAspLeuSerSerGluSerSerIleLysLysLysPheLeuLysArgLysGlyLysThrAspSerProTrpIleLysProAlaArgLysArgArgArgArgSerArgLysLysProSerGlyAlaLeuGlySerGluSerTyrLysSerSerAlaGlySerAlaGluGlnThrAlaProGlyAspSerThrGlyTyrMetGluValSerLeuAspSerLeuAspLeuArgValLysGlyIleLeuSerSerGlnAlaGluGlyLeuAlaAsnGlyProAspValLeuGluThrAspGlyLeuGlnGluValProLeuCysSerCysArgMetGluThrProLysSerArgGluIleThrThrLeuAlaAsnAsnGlnCysMetAlaThrGluSerValAspHisGluValSerThrPheValPheIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690255"
    }
  ],
  "type": "nucleotide"
}