{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA253023",
  "communityStandardTitle": [
    "NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=19212[alleleid]",
        "alleleId": 19212,
        "preferredName": "NM_014140.4(SMARCAL1):c.100C>T (p.Gln34Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4173",
        "RCV": [
          "RCV000004390"
        ],
        "variationId": 4173
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.217279527C>T?assembly=hg19",
        "id": "chr2:g.217279527C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.216414804C>T?assembly=hg38",
        "id": "chr2:g.216414804C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/119473035",
        "rs": 119473035
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-216414804-C-T?dataset=gnomad_r4",
        "id": "2-216414804-C-T",
        "variant": "2:216414804 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 216414804,
          "referenceAllele": "C",
          "start": 216414803
        }
      ],
      "hgvs": [
        "NC_000002.12:g.216414804C>T",
        "CM000664.2:g.216414804C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 217279527,
          "referenceAllele": "C",
          "start": 217279526
        }
      ],
      "hgvs": [
        "NC_000002.11:g.217279527C>T",
        "CM000664.1:g.217279527C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "T",
          "end": 216987772,
          "referenceAllele": "C",
          "start": 216987771
        }
      ],
      "hgvs": [
        "NC_000002.10:g.216987772C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 7391,
          "referenceAllele": "C",
          "start": 7390
        }
      ],
      "hgvs": [
        "NG_009771.1:g.7391C>T",
        "LRG_108:g.7391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001631"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 352,
          "referenceAllele": "C",
          "start": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000425815.6:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000394410.2:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000394410.2:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904799"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.6:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.2:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000405077.2:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.6:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.2:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000398969.2:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904940"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697898.1:n.461C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909056"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697899.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513470.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513470.1:p.Gln34_Leu876delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909057"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 376,
          "referenceAllele": "C",
          "start": 375
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697900.1:n.376C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909058"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "C",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697901.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513471.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513471.1:p.Gln34_Gln381delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909059"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697902.1:n.332C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS909060"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 332,
          "referenceAllele": "C",
          "start": 331
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697903.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513472.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513472.1:p.Gln34_Leu453delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 260,
          "referenceAllele": "C",
          "start": 259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697904.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513473.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513473.1:p.Gln34_Leu453delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909062"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 296,
          "referenceAllele": "C",
          "start": 295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697905.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513474.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513474.1:p.Gln34_Leu453delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValLysProSerPheGlyGlyCysHisLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909063"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697906.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513475.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513475.1:p.Gln34_Leu876delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuAsnValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909064"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 226,
          "referenceAllele": "C",
          "start": 225
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000697907.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513476.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000513476.1:p.Gln34_Gln381delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrGlyLysCysGlnAspGlnGluValGluLeuSerLeuGlyArgAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS909065"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.9:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000349823.4:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748922",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.100C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.100C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Gln34Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Gln34Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000357276.8:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000349823.4:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000349823.4:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264043"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 251,
          "referenceAllele": "C",
          "start": 250
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000358207.9:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350940.5:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000350940.5:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 385,
          "referenceAllele": "C",
          "start": 384
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000430374.5:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405077.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000405077.1:p.Gln34_Gly146del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291115"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "C",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000434435.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402967.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000402967.1:p.Gln34Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS293030"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "ENST00000444508.5:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398969.1:p.Gln34Ter",
        "hgvsWellDefined": "ENSP00000398969.1:p.Gln34Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS297843"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629391",
      "coordinates": [
        {
          "allele": "T",
          "end": 244,
          "referenceAllele": "C",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Gln34Ter",
        "hgvsWellDefined": "NP_001120679.1:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011543"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253025",
      "coordinates": [
        {
          "allele": "T",
          "end": 430,
          "referenceAllele": "C",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.3:c.100C>T",
        "LRG_108t1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Gln34Ter",
        "hgvsWellDefined": "NP_054859.2:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032934"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 368,
          "referenceAllele": "C",
          "start": 367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246631.2:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246688.1:p.Gln34Ter",
        "hgvsWellDefined": "XP_005246688.1:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057716"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 420,
          "referenceAllele": "C",
          "start": 419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Gln34Ter",
        "hgvsWellDefined": "XP_005246689.1:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057717"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 413,
          "referenceAllele": "C",
          "start": 412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_006712557.1:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006712620.1:p.Gln34Ter",
        "hgvsWellDefined": "XP_006712620.1:p.Gln34_Leu932delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069710"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "C",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_005246632.2:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005246689.1:p.Gln34Ter",
        "hgvsWellDefined": "XP_005246689.1:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS532654"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 218,
          "referenceAllele": "C",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "XM_017004228.2:c.-817C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016859717.1:n.-817C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS559780"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825629391",
      "coordinates": [
        {
          "allele": "T",
          "end": 229,
          "referenceAllele": "C",
          "start": 228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_001127207.2:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001120679.1:p.Gln34Ter",
        "hgvsWellDefined": "NP_001120679.1:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676852"
    },
    {
      "@id": "http://reg.genome.network/allele/PA253025",
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "C",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011102",
      "geneNCBI_id": 50485,
      "geneSymbol": "SMARCAL1",
      "hgvs": [
        "NM_014140.4:c.100C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_054859.2:p.Gln34Ter",
        "hgvsWellDefined": "NP_054859.2:p.Gln34_Leu954delinsArgThrSerSerGlyThrSerIleAlaGlyAsnProPheGlnAlaLysGlnGlyProSerGlnAsnPheProArgGluSerCysLysProValSerHisGlyValIlePheLysGlnGlnAsnLeuSerSerSerSerAsnAlaAspGlnArgProHisAspSerHisSerPheGlnAlaLysGlyIleTrpLysLysProGluGluMetProThrAlaCysProGlyHisSerProArgSerGlnMetAlaLeuThrGlyIleSerProProLeuAlaGlnSerProProGluValProLysGlnGlnLeuLeuSerTyrGluLeuGlyGlnGlyHisAlaGlnAlaSerProGluIleArgPheThrProPheAlaAsnProThrHisLysProLeuAlaLysProLysSerSerGlnGluThrProAlaHisSerSerGlyGlnProProArgAspAlaLysLeuGluAlaLysThrAlaLysAlaSerProSerGlyGlnAsnIleSerTyrIleHisSerSerSerGluSerValThrProArgThrGluGlyArgLeuGlnGlnLysSerGlySerSerValGlnLysGlyValAsnSerGlnLysGlyLysCysValArgAsnGlyAspArgPheGlnValLeuIleGlyTyrAsnAlaGluLeuIleAlaValPheLysThrLeuProSerLysAsnTyrAspProAspThrLysThrTrpAsnPheSerMetAsnAspTyrSerAlaLeuMetLysAlaAlaGlnSerLeuProThrValAsnLeuGlnProLeuGluTrpAlaTyrGlySerSerGluSerProSerThrSerSerGluGlyGlnAlaGlyLeuProSerAlaProSerLeuSerPheValLysGlyArgCysMetLeuIleSerArgAlaTyrPheGluAlaAspIleSerTyrSerGlnAspLeuIleAlaLeuPheLysGlnMetAspSerArgArgTyrAspValLysThrArgLysTrpSerPheLeuLeuGluGluHisSerLysLeuIleAlaLysValArgCysLeuProGlnValGlnLeuAspProLeuProThrThrLeuThrLeuAlaPheAlaSerGlnLeuLysLysThrSerLeuSerLeuThrProAspValProGluAlaAspLeuSerGluValAspProLysLeuValSerAsnLeuMetProPheGlnArgAlaGlyValAsnPheAlaIleAlaLysGlyGlyArgLeuLeuLeuAlaAspAspMetGlyLeuGlyLysThrIleGlnAlaIleCysIleAlaAlaPheTyrArgLysGluTrpProLeuLeuValValValProSerSerValArgPheThrTrpGluGlnAlaPheLeuArgTrpLeuProSerLeuSerProAspCysIleAsnValValValThrGlyLysAspArgLeuThrAlaGlyLeuIleAsnIleValSerPheAspLeuLeuSerLysLeuGluLysGlnLeuLysThrProPheLysValValIleIleAspGluSerHisPheLeuLysAsnSerArgThrAlaArgCysArgAlaAlaMetProValLeuLysValAlaLysArgValIleLeuLeuSerGlyThrProAlaMetSerArgProAlaGluLeuTyrThrGlnIleIleAlaValLysProThrPhePheProGlnPheHisAlaPheGlyLeuArgTyrCysAspAlaLysArgMetProTrpGlyTrpAspTyrSerGlySerSerAsnLeuGlyGluLeuLysLeuLeuLeuGluGluAlaValMetLeuArgArgLeuLysSerAspValLeuSerGlnLeuProAlaLysGlnArgLysIleValValIleAlaProGlyArgIleAsnAlaArgThrArgAlaAlaLeuAspAlaAlaAlaLysGluMetThrThrLysAspLysThrLysGlnGlnGlnLysAspAlaLeuIleLeuPhePheAsnArgThrAlaGluAlaLysIleProSerValIleGluTyrIleLeuAspLeuLeuGluSerGlyArgGluLysPheLeuValPheAlaHisHisLysValValLeuAspAlaIleThrGlnGluLeuGluArgLysHisValGlnHisIleArgIleAspGlySerThrSerSerAlaGluArgGluAspLeuCysGlnGlnPheGlnLeuSerGluArgHisAlaValAlaValLeuSerIleThrAlaAlaAsnMetGlyLeuThrPheSerSerAlaAspLeuValValPheAlaGluLeuPheTrpAsnProGlyValLeuIleGlnAlaGluAspArgValHisArgIleGlyGlnThrSerSerValGlyIleHisTyrLeuValAlaLysGlyThrAlaAspAspTyrLeuTrpProLeuIleGlnGluLysIleLysValLeuAlaGluAlaGlyLeuSerGluThrAsnPheSerGluMetThrGluSerThrAspTyrLeuTyrLysAspProLysGlnGlnLysIleTyrAspLeuPheGlnLysSerPheGluLysGluGlySerAspMetGluLeuLeuGluAlaAlaGluSerPheAspProGlySerAlaSerGlyThrSerGlySerSerSerGlnAsnMetGlyAspThrLeuAspGluSerSerLeuThrAlaSerProGlnLysLysArgArgPheGluPhePheAspAsnTrpAspSerPheThrSerProLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697187",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000357276.9:c.100C>T"
          },
          "RefSeq": {
            "hgvs": "NM_014140.4:c.100C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000349823.4:p.Gln34Ter"
          },
          "RefSeq": {
            "hgvs": "NP_054859.2:p.Gln34Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}