{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA380277552",
  "communityStandardTitle": [
    "NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=570671[alleleid]",
        "alleleId": 570671,
        "preferredName": "NM_002334.4(LRP4):c.2866G>T (p.Glu956Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/576661",
        "RCV": [
          "RCV000699205"
        ],
        "variationId": 576661
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46900815C>A?assembly=hg19",
        "id": "chr11:g.46900815C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.46879264C>A?assembly=hg38",
        "id": "chr11:g.46879264C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1565785959",
        "rs": 1565785959
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46879264,
          "referenceAllele": "C",
          "start": 46879263
        }
      ],
      "hgvs": [
        "NC_000011.10:g.46879264C>A",
        "CM000673.2:g.46879264C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46900815,
          "referenceAllele": "C",
          "start": 46900814
        }
      ],
      "hgvs": [
        "NC_000011.9:g.46900815C>A",
        "CM000673.1:g.46900815C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "A",
          "end": 46857391,
          "referenceAllele": "C",
          "start": 46857390
        }
      ],
      "hgvs": [
        "NC_000011.8:g.46857391C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 44359,
          "referenceAllele": "G",
          "start": 44358
        }
      ],
      "hgvs": [
        "NG_021394.1:g.44359G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003621"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "referenceAllele": "G",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.6:c.2866G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Glu956Ter",
        "hgvsWellDefined": "ENSP00000367888.1:p.Glu956_Val1905delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752113",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.2866G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.2866G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Glu956Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Glu956Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3109,
          "referenceAllele": "G",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "ENST00000378623.5:c.2866G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000367888.1:p.Glu956Ter",
        "hgvsWellDefined": "ENSP00000367888.1:p.Glu956_Val1905delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS272123"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891854797",
      "coordinates": [
        {
          "allele": "T",
          "end": 3109,
          "referenceAllele": "G",
          "start": 3108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.3:c.2866G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Glu956Ter",
        "hgvsWellDefined": "NP_002325.2:p.Glu956_Val1905delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027644"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3094,
          "referenceAllele": "G",
          "start": 3093
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520102.1:c.3079G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518404.1:p.Glu1027Ter",
        "hgvsWellDefined": "XP_011518404.1:p.Glu1027_Val1976delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2167,
          "referenceAllele": "G",
          "start": 2166
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.1:c.2062G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Glu688Ter",
        "hgvsWellDefined": "XP_011518405.1:p.Glu688_Val1637delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087272"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.1:c.631G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Glu211Ter",
        "hgvsWellDefined": "XP_011518406.1:p.Glu211_Val1160delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087273"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2179,
          "referenceAllele": "G",
          "start": 2178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520103.2:c.2062G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518405.1:p.Glu688Ter",
        "hgvsWellDefined": "XP_011518405.1:p.Glu688_Val1637delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_011520104.2:c.631G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518406.1:p.Glu211Ter",
        "hgvsWellDefined": "XP_011518406.1:p.Glu211_Val1160delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545593"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3026,
          "referenceAllele": "G",
          "start": 3025
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "XM_017017734.1:c.2866G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016873223.1:p.Glu956Ter",
        "hgvsWellDefined": "XP_016873223.1:p.Glu956_Phe1809delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlnLeuPheHisProSerAspSerLeuSerProPheLeuPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS569853"
    },
    {
      "@id": "http://reg.genome.network/allele/PA891854797",
      "coordinates": [
        {
          "allele": "T",
          "end": 3037,
          "referenceAllele": "G",
          "start": 3036
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006696",
      "geneNCBI_id": 4038,
      "geneSymbol": "LRP4",
      "hgvs": [
        "NM_002334.4:c.2866G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002325.2:p.Glu956Ter",
        "hgvsWellDefined": "NP_002325.2:p.Glu956_Val1905delinsArgIleTyrTrpThrAspTrpGlnThrLysSerIleGlnSerAlaAspArgLeuThrGlyLeuAspArgGluThrLeuGlnGluAsnLeuGluAsnLeuMetAspIleHisValPheHisArgArgArgProProValSerThrProCysAlaMetGluAsnGlyGlyCysSerHisLeuCysLeuArgSerProAsnProSerGlyPheSerCysThrCysProThrGlyIleAsnLeuLeuSerAspGlyLysThrCysSerProGlyMetAsnSerPheLeuIlePheAlaArgArgIleAspIleArgMetValSerLeuAspIleProTyrPheAlaAspValValValProIleAsnIleThrMetLysAsnThrIleAlaIleGlyValAspProGlnGluGlyLysValTyrTrpSerAspSerThrLeuHisArgIleSerArgAlaAsnLeuAspGlySerGlnHisGluAspIleIleThrThrGlyLeuGlnThrThrAspGlyLeuAlaValAspAlaIleGlyArgLysValTyrTrpThrAspThrGlyThrAsnArgIleGluValGlyAsnLeuAspGlySerMetArgLysValLeuValTrpGlnAsnLeuAspSerProArgAlaIleValLeuTyrHisGluMetGlyPheMetTyrTrpThrAspTrpGlyGluAsnAlaLysLeuGluArgSerGlyMetAspGlySerAspArgAlaValLeuIleAsnAsnAsnLeuGlyTrpProAsnGlyLeuThrValAspLysAlaSerSerGlnLeuLeuTrpAlaAspAlaHisThrGluArgIleGluAlaAlaAspLeuAsnGlyAlaAsnArgHisThrLeuValSerProValGlnHisProTyrGlyLeuThrLeuLeuAspSerTyrIleTyrTrpThrAspTrpGlnThrArgSerIleHisArgAlaAspLysGlyThrGlySerAsnValIleLeuValArgSerAsnLeuProGlyLeuMetAspMetGlnAlaValAspArgAlaGlnProLeuGlyPheAsnLysCysGlySerArgAsnGlyGlyCysSerHisLeuCysLeuProArgProSerGlyPheSerCysAlaCysProThrGlyIleGlnLeuLysGlyAspGlyLysThrCysAspProSerProGluThrTyrLeuLeuPheSerSerArgGlySerIleArgArgIleSerLeuAspThrSerAspHisThrAspValHisValProValProGluLeuAsnAsnValIleSerLeuAspTyrAspSerValAspGlyLysValTyrTyrThrAspValPheLeuAspValIleArgArgAlaAspLeuAsnGlySerAsnMetGluThrValIleGlyArgGlyLeuLysThrThrAspGlyLeuAlaValAspTrpValAlaArgAsnLeuTyrTrpThrAspThrGlyArgAsnThrIleGluAlaSerArgLeuAspGlySerCysArgLysValLeuIleAsnAsnSerLeuAspGluProArgAlaIleAlaValPheProArgLysGlyTyrLeuPheTrpThrAspTrpGlyHisIleAlaLysIleGluArgAlaAsnLeuAspGlySerGluArgLysValLeuIleAsnThrAspLeuGlyTrpProAsnGlyLeuThrLeuAspTyrAspThrArgArgIleTyrTrpValAspAlaHisLeuAspArgIleGluSerAlaAspLeuAsnGlyLysLeuArgGlnValLeuValSerHisValSerHisProPheAlaLeuThrGlnGlnAspArgTrpIleTyrTrpThrAspTrpGlnThrLysSerIleGlnArgValAspLysTyrSerGlyArgAsnLysGluThrValLeuAlaAsnValGluGlyLeuMetAspIleIleValValSerProGlnArgGlnThrGlyThrAsnAlaCysGlyValAsnAsnGlyGlyCysThrHisLeuCysPheAlaArgAlaSerAspPheValCysAlaCysProAspGluProAspSerArgProCysSerLeuValProGlyLeuValProProAlaProArgAlaThrGlyMetSerGluLysSerProValLeuProAsnThrProProThrThrLeuTyrSerSerThrThrArgThrArgThrSerLeuGluGluValGluGlyArgCysSerGluArgAspAlaArgLeuGlyLeuCysAlaArgSerAsnAspAlaValProAlaAlaProGlyGluGlyLeuHisIleSerTyrAlaIleGlyGlyLeuLeuSerIleLeuLeuIleLeuValValIleAlaAlaLeuMetLeuTyrArgHisLysLysSerLysPheThrAspProGlyMetGlyAsnLeuThrTyrSerAsnProSerTyrArgThrSerThrGlnGluValLysIleGluAlaIleProLysProAlaMetTyrAsnGlnLeuCysTyrLysLysGluGlyGlyProAspHisAsnTyrThrLysGluLysIleLysIleValGluGlyIleCysLeuLeuSerGlyAspAspAlaGluTrpAspAspLeuLysGlnLeuArgSerSerArgGlyGlyLeuLeuArgAspHisValCysMetLysThrAspThrValSerIleGlnAlaSerSerGlySerLeuAspAspThrGluThrGluGlnLeuLeuGlnGluGluGlnSerGluCysSerSerValHisThrAlaAlaThrProGluArgArgGlySerLeuProAspThrGlyTrpLysHisGluArgLysLeuSerSerGluSerGlnValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665470",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000378623.6:c.2866G>T"
          },
          "RefSeq": {
            "hgvs": "NM_002334.4:c.2866G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000367888.1:p.Glu956Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002325.2:p.Glu956Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}