{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA406616603",
  "communityStandardTitle": [
    "NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1108679[alleleid]",
        "alleleId": 1108679,
        "preferredName": "NM_001394372.1(BICRA):c.1993C>T (p.Gln665Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1106676",
        "RCV": [
          "RCV001431523"
        ],
        "variationId": 1106676
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.48184420C>T?assembly=hg19",
        "id": "chr19:g.48184420C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.47681163C>T?assembly=hg38",
        "id": "chr19:g.47681163C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1229548274",
        "rs": 1229548274
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-47681163-C-T?dataset=gnomad_r4",
        "id": "19-47681163-C-T",
        "variant": "19:47681163 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 47681163,
          "referenceAllele": "C",
          "start": 47681162
        }
      ],
      "hgvs": [
        "NC_000019.10:g.47681163C>T",
        "CM000681.2:g.47681163C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 48184420,
          "referenceAllele": "C",
          "start": 48184419
        }
      ],
      "hgvs": [
        "NC_000019.9:g.48184420C>T",
        "CM000681.1:g.48184420C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 52876232,
          "referenceAllele": "C",
          "start": 52876231
        }
      ],
      "hgvs": [
        "NC_000019.8:g.52876232C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000594866.3:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000469738.2:p.Gln665Ter",
        "hgvsWellDefined": "ENSP00000469738.2:p.Gln665_Arg1560delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826305",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594866.3:c.1993C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001394372.1:c.1993C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469738.2:p.Gln665Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001381301.1:p.Gln665Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2202,
          "referenceAllele": "C",
          "start": 2201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000614245.2:c.1267C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480219.2:p.Gln423Ter",
        "hgvsWellDefined": "ENSP00000480219.2:p.Gln423_Arg1318delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761957"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000396720.7:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379946.2:p.Gln665Ter",
        "hgvsWellDefined": "ENSP00000379946.2:p.Gln665_Arg1560delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277413"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2200,
          "referenceAllele": "C",
          "start": 2199
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "ENST00000614245.1:c.1837C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480219.1:p.Gln613Ter",
        "hgvsWellDefined": "ENSP00000480219.1:p.Gln613_Arg1508delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402099"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499281962",
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "NM_015711.3:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_056526.3:p.Gln665Ter",
        "hgvsWellDefined": "NP_056526.3:p.Gln665_Arg1560delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_005258833.3:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258890.1:p.Gln665Ter",
        "hgvsWellDefined": "XP_005258890.1:p.Gln665_Arg1560delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS062196"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_006723180.2:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723243.1:p.Gln665Ter",
        "hgvsWellDefined": "XP_006723243.1:p.Gln665_Arg1200delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS074909"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2516,
          "referenceAllele": "C",
          "start": 2515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526882.1:c.1855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525184.1:p.Gln619Ter",
        "hgvsWellDefined": "XP_011525184.1:p.Gln619_Arg1514delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2211,
          "referenceAllele": "C",
          "start": 2210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526883.1:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525185.1:p.Gln665Ter",
        "hgvsWellDefined": "XP_011525185.1:p.Gln665_Arg1501delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS093982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2230,
          "referenceAllele": "C",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_005258833.4:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005258890.1:p.Gln665Ter",
        "hgvsWellDefined": "XP_005258890.1:p.Gln665_Arg1560delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2230,
          "referenceAllele": "C",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_006723180.3:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006723243.1:p.Gln665Ter",
        "hgvsWellDefined": "XP_006723243.1:p.Gln665_Arg1200delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS540703"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3197,
          "referenceAllele": "C",
          "start": 3196
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526882.2:c.1855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525184.1:p.Gln619Ter",
        "hgvsWellDefined": "XP_011525184.1:p.Gln619_Arg1514delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548450"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2230,
          "referenceAllele": "C",
          "start": 2229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "XM_011526883.2:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525185.1:p.Gln665Ter",
        "hgvsWellDefined": "XP_011525185.1:p.Gln665_Arg1501delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS548451"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829222866",
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004332",
      "geneNCBI_id": 29998,
      "geneSymbol": "BICRA",
      "hgvs": [
        "NM_001394372.1:c.1993C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001381301.1:p.Gln665Ter",
        "hgvsWellDefined": "NP_001381301.1:p.Gln665_Arg1560delinsProSerProGlyLeuAlaSerSerProGluLysIleValLeuGlyGlnProProSerAlaThrProThrAlaIleLeuThrGlnAspSerLeuGlnMetPheLeuProGlnGluArgSerGlnGlnProLeuSerAlaGluGlyProHisLeuSerValProAlaSerValIleValSerAlaProProProAlaGlnAspProAlaProAlaThrProValAlaLysGlyAlaGlyLeuGlyProGlnAlaProAspSerGlnAlaSerProAlaProAlaProGlnIleProAlaAlaAlaProLeuLysGlyProGlyProSerSerSerProSerLeuProHisGlnAlaProLeuGlyAspSerProHisLeuProSerProHisProThrArgProProSerArgProProSerArgProGlnSerValSerArgProProSerGluProProLeuHisProCysProProProGlnAlaProProThrLeuProGlyIlePheValIleGlnAsnGlnLeuGlyValProProProAlaSerAsnProAlaProThrAlaProGlyProProGlnProProLeuArgProGlnSerGlnProProGluGlyProLeuProProAlaProHisLeuProProSerSerThrSerSerAlaValAlaSerSerSerGluThrSerSerArgLeuProAlaProThrProSerAspPheGlnLeuGlnPheProProSerGlnGlyProHisLysSerProThrProProProThrLeuHisLeuValProGluProAlaAlaProProProProProProArgThrPheGlnMetValThrThrProPheProAlaLeuProGlnProLysAlaLeuLeuGluArgPheHisGlnValProSerGlyIleIleLeuGlnAsnLysAlaGlyGlyAlaProAlaAlaProGlnThrSerThrSerLeuGlyProLeuThrSerProAlaAlaSerValLeuValSerGlyGlnAlaProSerGlyThrProThrAlaProSerHisAlaProAlaProAlaProMetAlaAlaThrGlyLeuProProLeuLeuProAlaGluAsnLysAlaPheAlaSerAsnLeuProThrLeuAsnValAlaLysAlaAlaSerSerGlyProGlyLysProSerGlyLeuGlnTyrGluSerLysLeuSerGlyLeuLysLysProProThrLeuGlnProSerLysGluAlaCysPheLeuGluHisLeuHisLysHisGlnGlySerValLeuHisProAspTyrLysThrAlaPheProSerPheGluAspAlaLeuHisArgLeuLeuProTyrHisValTyrGlnGlyAlaLeuProSerProSerAspTyrHisLysValAspGluGluPheGluThrValSerThrGlnLeuLeuLysArgThrGlnAlaMetLeuAsnLysTyrArgLeuLeuLeuLeuGluGluSerArgArgValSerProSerAlaGluMetValMetIleAspArgMetPheIleGlnGluGluLysThrThrLeuAlaLeuAspLysGlnLeuAlaLysGluLysProAspGluTyrValSerSerSerArgSerLeuGlyLeuProIleAlaAlaSerSerGluGlyHisArgLeuProGlyHisGlyProLeuSerSerSerAlaProGlyAlaSerThrGlnProProProHisLeuProThrLysLeuValIleArgHisGlyGlyAlaGlyGlySerProSerValThrTrpAlaArgAlaSerSerSerLeuSerSerSerSerSerSerSerSerAlaAlaSerSerLeuAspAlaAspGluAspGlyProMetProSerArgAsnArgProProIleLysThrTyrGluAlaArgSerArgIleGlyLeuLysLeuLysIleLysGlnGluAlaGlyLeuSerLysValValHisAsnThrAlaLeuAspProValHisGlnProProProProProAlaThrLeuLysValAlaGluProProProArgProProProProProProProThrGlyGlnMetAsnGlyThrValAspHisProProProAlaAlaProGluArgLysProLeuGlyThrAlaProHisCysProArgLeuProLeuArgLysThrTyrArgGluAsnValGlyGlyProGlyAlaProGluGlyThrProAlaGlyArgAlaArgGlyGlySerProAlaProLeuProAlaLysValAspGluAlaThrSerGlyLeuIleArgGluLeuAlaAlaValGluAspGluLeuTyrGlnArgMetLeuLysGlyProProProGluProAlaAlaSerAlaAlaGlnGlyThrGlyAspProAspTrpGluAlaProGlyLeuProProAlaLysArgArgLysSerGluSerProAspValAspGlnAlaSerPheSerSerAspSerProGlnAspAspThrLeuThrGluHisLeuGlnSerAlaIleAspSerIleLeuAsnLeuGlnGlnAlaProGlyArgThrProAlaProSerTyrProHisAlaAlaSerAlaGlyThrProAlaSerProProProLeuHisArgProGluAlaTyrProProSerSerHisAsnGlyGlyLeuGlyAlaArgThrLeuThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS782067",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000594866.3:c.1993C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001394372.1:c.1993C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000469738.2:p.Gln665Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001381301.1:p.Gln665Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}