{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA407413972",
  "communityStandardTitle": [
    "NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=514304[alleleid]",
        "alleleId": 514304,
        "preferredName": "NM_144687.4(NLRP12):c.1223G>A (p.Trp408Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/523656",
        "RCV": [
          "RCV000627083"
        ],
        "variationId": 523656
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.54313690C>T?assembly=hg19",
        "id": "chr19:g.54313690C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.53810436C>T?assembly=hg38",
        "id": "chr19:g.53810436C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/774895361",
        "rs": 774895361
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-53810436-C-T?dataset=gnomad_r4",
        "id": "19-53810436-C-T",
        "variant": "19:53810436 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 53810436,
          "referenceAllele": "C",
          "start": 53810435
        }
      ],
      "hgvs": [
        "NC_000019.10:g.53810436C>T",
        "CM000681.2:g.53810436C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 54313690,
          "referenceAllele": "C",
          "start": 54313689
        }
      ],
      "hgvs": [
        "NC_000019.9:g.54313690C>T",
        "CM000681.1:g.54313690C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "T",
          "end": 59005502,
          "referenceAllele": "C",
          "start": 59005501
        }
      ],
      "hgvs": [
        "NC_000019.8:g.59005502C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18959,
          "referenceAllele": "G",
          "start": 18958
        }
      ],
      "hgvs": [
        "NG_008651.1:g.18959G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001145"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 18959,
          "referenceAllele": "G",
          "start": 18958
        }
      ],
      "hgvs": [
        "NG_008651.2:g.18959G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS706087"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000391773.7:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375653.1:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000375653.1:p.Trp408_Cys1062delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904589"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000324134.11:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319377.6:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000319377.6:p.Trp408_Cys1061delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS746610",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324134.11:c.1223G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144687.4:c.1223G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000319377.6:p.Trp408Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653288.1:p.Trp408Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000391773.6:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375653.1:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000375653.1:p.Trp408_Cys1062delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752931"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1392,
          "referenceAllele": "G",
          "start": 1391
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000324134.10:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000319377.6:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000319377.6:p.Trp408_Cys1061delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS258303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000345770.9:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000341428.5:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000341428.5:p.Trp408_Cys1006delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000391772.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375652.1:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000375652.1:p.Trp408_Cys892delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274749"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1443,
          "referenceAllele": "G",
          "start": 1442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000391773.5:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375653.1:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000375653.1:p.Trp408_Cys1062delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274750"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1366,
          "referenceAllele": "G",
          "start": 1365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "ENST00000391775.7:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000375655.3:p.Trp408Ter",
        "hgvsWellDefined": "ENSP00000375655.3:p.Trp408_Cys1004delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274751"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826572370",
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "NM_001277126.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264055.1:p.Trp408Ter",
        "hgvsWellDefined": "NP_001264055.1:p.Trp408_Cys1062delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020969"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826573133",
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "NM_001277129.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264058.1:p.Trp408Ter",
        "hgvsWellDefined": "NP_001264058.1:p.Trp408_Cys1004delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS020972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809279",
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "NM_144687.3:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653288.1:p.Trp408Ter",
        "hgvsWellDefined": "NP_653288.1:p.Trp408_Cys1061delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS041205"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1240,
          "referenceAllele": "G",
          "start": 1239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_011527478.1:c.1055G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525780.1:p.Trp352Ter",
        "hgvsWellDefined": "XP_011525780.1:p.Trp352_Cys1006delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094572"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_011527479.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525781.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_011525781.1:p.Trp408_Cys1005delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094573"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_011527480.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525782.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_011525782.1:p.Trp408_Cys1005delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094574"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_011527481.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525783.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_011525783.1:p.Trp408_Leu970delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgValGluIleGluSerValProLeuSerAlaThrSerThrGlyLeuGlyThrGlyProSerGlnGlnIleLeuGlnGluGluCysLeuProLeuArgProSerIleLeuSerLeuGlnValGlyHisLeuProAlaGlyLeuCysArgLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094575"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_011527482.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525784.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_011525784.1:p.Trp408_Cys948delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094576"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_011527483.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011525785.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_011525785.1:p.Trp408_Cys890delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS094577"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027460.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882949.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_016882949.1:p.Trp408_Cys1061delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577404"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027461.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882950.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_016882950.1:p.Trp408_Cys1005delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577405"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1452,
          "referenceAllele": "G",
          "start": 1451
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027462.1:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882951.1:p.Trp408Ter",
        "hgvsWellDefined": "XP_016882951.1:p.Trp408_Cys1004delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577406"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1225,
          "referenceAllele": "G",
          "start": 1224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027463.1:c.806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882952.1:p.Trp269Ter",
        "hgvsWellDefined": "XP_016882952.1:p.Trp269_Cys923delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577407"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1023,
          "referenceAllele": "G",
          "start": 1022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027464.1:c.806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882953.1:p.Trp269Ter",
        "hgvsWellDefined": "XP_016882953.1:p.Trp269_Cys923delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027465.1:c.806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882954.1:p.Trp269Ter",
        "hgvsWellDefined": "XP_016882954.1:p.Trp269_Cys923delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577409"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1230,
          "referenceAllele": "G",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027466.1:c.806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882955.1:p.Trp269Ter",
        "hgvsWellDefined": "XP_016882955.1:p.Trp269_Cys923delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577410"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1025,
          "referenceAllele": "G",
          "start": 1024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "XM_017027467.1:c.806G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016882956.1:p.Trp269Ter",
        "hgvsWellDefined": "XP_016882956.1:p.Trp269_Cys923delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS577411"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826572370",
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "NM_001277126.2:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001264055.1:p.Trp408Ter",
        "hgvsWellDefined": "NP_001264055.1:p.Trp408_Cys1062delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuArgProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681354"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658809279",
      "coordinates": [
        {
          "allele": "A",
          "end": 1363,
          "referenceAllele": "G",
          "start": 1362
        }
      ],
      "gene": "http://reg.genome.network/gene/GN022938",
      "geneNCBI_id": 91662,
      "geneSymbol": "NLRP12",
      "hgvs": [
        "NM_144687.4:c.1223G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_653288.1:p.Trp408Ter",
        "hgvsWellDefined": "NP_653288.1:p.Trp408_Cys1061delinsValValCysThrCysLeuGlnGlnGlnLeuGluGlyGlyGlyLeuLeuArgGlnThrSerArgThrThrThrAlaValTyrMetLeuTyrLeuLeuSerLeuMetGlnProLysProGlyAlaProArgLeuGlnProProProAsnGlnArgGlyLeuCysSerLeuAlaAlaAspGlyLeuTrpAsnGlnLysIleLeuPheGluGluGlnAspLeuArgLysHisGlyLeuAspGlyGluAspValSerAlaPheLeuAsnMetAsnIlePheGlnLysAspIleAsnCysGluArgTyrTyrSerPheIleHisLeuSerPheGlnGluPhePheAlaAlaMetTyrTyrIleLeuAspGluGlyGluGlyGlyAlaGlyProAspGlnAspValThrArgLeuLeuThrGluTyrAlaPheSerGluArgSerPheLeuAlaLeuThrSerArgPheLeuPheGlyLeuLeuAsnGluGluThrArgSerHisLeuGluLysSerLeuCysTrpLysValSerProHisIleLysMetAspLeuLeuGlnTrpIleGlnSerLysAlaGlnSerAspGlySerThrLeuGlnGlnGlySerLeuGluPhePheSerCysLeuTyrGluIleGlnGluGluGluPheIleGlnGlnAlaLeuSerHisPheGlnValIleValValSerAsnIleAlaSerLysMetGluHisMetValSerSerPheCysLeuLysArgCysArgSerAlaGlnValLeuHisLeuTyrGlyAlaThrTyrSerAlaAspGlyGluAspArgAlaArgCysSerAlaGlyAlaHisThrLeuLeuValGlnLeuProGluArgThrValLeuLeuAspAlaTyrSerGluHisLeuAlaAlaAlaLeuCysThrAsnProAsnLeuIleGluLeuSerLeuTyrArgAsnAlaLeuGlySerArgGlyValLysLeuLeuCysGlnGlyLeuArgHisProAsnCysLysLeuGlnAsnLeuArgLeuLysArgCysArgIleSerSerSerAlaCysGluAspLeuSerAlaAlaLeuIleAlaAsnLysAsnLeuThrArgMetAspLeuSerGlyAsnGlyValGlyPheProGlyMetMetLeuLeuCysGluGlyLeuArgHisProGlnCysArgLeuGlnMetIleGlnLeuArgLysCysGlnLeuGluSerGlyAlaCysGlnGluMetAlaSerValLeuGlyThrAsnProHisLeuValGluLeuAspLeuThrGlyAsnAlaLeuGluAspLeuGlyLeuArgLeuLeuCysGlnGlyLeuArgHisProValCysArgLeuArgThrLeuTrpLeuLysIleCysArgLeuThrAlaAlaAlaCysAspGluLeuAlaSerThrLeuSerValAsnGlnSerLeuArgGluLeuAspLeuSerLeuAsnGluLeuGlyAspLeuGlyValLeuLeuLeuCysGluGlyLeuArgHisProThrCysLysLeuGlnThrLeuArgLeuGlyIleCysArgLeuGlySerAlaAlaCysGluGlyLeuSerValValLeuGlnAlaAsnHisAsnLeuArgGluLeuAspLeuSerPheAsnAspLeuGlyAspTrpGlyLeuTrpLeuLeuAlaGluGlyLeuGlnHisProAlaCysArgLeuGlnLysLeuTrpLeuAspSerCysGlyLeuThrAlaLysAlaCysGluAsnLeuTyrPheThrLeuGlyIleAsnGlnThrLeuThrAspLeuTyrLeuThrAsnAsnAlaLeuGlyAspThrGlyValArgLeuLeuCysLysArgLeuSerHisProGlyCysLysLeuArgValLeuTrpLeuPheGlyMetAspLeuAsnLysMetThrHisSerArgLeuAlaAlaLeuArgValThrLysProTyrLeuAspIleGlyCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS699928",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000324134.11:c.1223G>A"
          },
          "RefSeq": {
            "hgvs": "NM_144687.4:c.1223G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000319377.6:p.Trp408Ter"
          },
          "RefSeq": {
            "hgvs": "NP_653288.1:p.Trp408Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}