{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA112157211",
  "communityStandardTitle": [
    "NM_005245.4(FAT1):c.10993C>T (p.Arg3665Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1054043",
        "active": true,
        "id": "COSM1054043"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1054045",
        "active": true,
        "id": "COSM1054045"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3032794[alleleid]",
        "alleleId": 3032794,
        "preferredName": "NM_005245.4(FAT1):c.10993C>T (p.Arg3665Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2875385",
        "RCV": [
          "RCV003707184"
        ],
        "variationId": 2875385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.187524687G>A?assembly=hg19",
        "id": "chr4:g.187524687G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.186603533G>A?assembly=hg38",
        "id": "chr4:g.186603533G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/928653182",
        "rs": 928653182
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-187524687-G-A?dataset=gnomad_r2_1",
        "id": "4-187524687-G-A",
        "variant": "4:187524687 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-186603533-G-A?dataset=gnomad_r4",
        "id": "4-186603533-G-A",
        "variant": "4:186603533 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 186603533,
          "referenceAllele": "G",
          "start": 186603532
        }
      ],
      "hgvs": [
        "NC_000004.12:g.186603533G>A",
        "CM000666.2:g.186603533G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187524687,
          "referenceAllele": "G",
          "start": 187524686
        }
      ],
      "hgvs": [
        "NC_000004.11:g.187524687G>A",
        "CM000666.1:g.187524687G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "A",
          "end": 187761681,
          "referenceAllele": "G",
          "start": 187761680
        }
      ],
      "hgvs": [
        "NC_000004.10:g.187761681G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 128383,
          "referenceAllele": "C",
          "start": 128382
        }
      ],
      "hgvs": [
        "NG_046994.1:g.128383C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616529"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11204,
          "referenceAllele": "C",
          "start": 11203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000441802.7:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406229.2:p.Arg3665Ter",
        "hgvsWellDefined": "ENSP00000406229.2:p.Arg3665_Val4588delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755870",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.10993C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.10993C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:p.Arg3665Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:p.Arg3665Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11203,
          "referenceAllele": "C",
          "start": 11202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000441802.6:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000406229.2:p.Arg3665Ter",
        "hgvsWellDefined": "ENSP00000406229.2:p.Arg3665_Val4588delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296574"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11187,
          "referenceAllele": "C",
          "start": 11186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "ENST00000614102.4:c.10999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000479573.1:p.Arg3667Ter",
        "hgvsWellDefined": "ENSP00000479573.1:p.Arg3667_Val4590delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS402031"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741919852",
      "coordinates": [
        {
          "allele": "T",
          "end": 11181,
          "referenceAllele": "C",
          "start": 11180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.3:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:p.Arg3665Ter",
        "hgvsWellDefined": "NP_005236.2:p.Arg3665_Val4588delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030356"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11573,
          "referenceAllele": "C",
          "start": 11572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262834.2:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262891.1:p.Arg3665Ter",
        "hgvsWellDefined": "XP_005262891.1:p.Arg3665_Val4600delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGluSerLeuAlaAlaProAspLeuSerLysProArgGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063587"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11203,
          "referenceAllele": "C",
          "start": 11202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262835.1:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262892.1:p.Arg3665Ter",
        "hgvsWellDefined": "XP_005262892.1:p.Arg3665_Val4600delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGluSerLeuAlaAlaProAspLeuSerLysProArgGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063588"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11573,
          "referenceAllele": "C",
          "start": 11572
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.2:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:p.Arg3665Ter",
        "hgvsWellDefined": "XP_006714202.1:p.Arg3665_Val4588delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS070516"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11354,
          "referenceAllele": "C",
          "start": 11353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262834.3:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262891.1:p.Arg3665Ter",
        "hgvsWellDefined": "XP_005262891.1:p.Arg3665_Val4600delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGluSerLeuAlaAlaProAspLeuSerLysProArgGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535557"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11198,
          "referenceAllele": "C",
          "start": 11197
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_005262835.2:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262892.1:p.Arg3665Ter",
        "hgvsWellDefined": "XP_005262892.1:p.Arg3665_Val4600delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGluSerLeuAlaAlaProAspLeuSerLysProArgGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535558"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11354,
          "referenceAllele": "C",
          "start": 11353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "XM_006714139.3:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006714202.1:p.Arg3665Ter",
        "hgvsWellDefined": "XP_006714202.1:p.Arg3665_Val4588delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS538667"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741919852",
      "coordinates": [
        {
          "allele": "T",
          "end": 11204,
          "referenceAllele": "C",
          "start": 11203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003595",
      "geneNCBI_id": 2195,
      "geneSymbol": "FAT1",
      "hgvs": [
        "NM_005245.4:c.10993C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005236.2:p.Arg3665Ter",
        "hgvsWellDefined": "NP_005236.2:p.Arg3665_Val4588delinsAlaLeuArgAsnIleLeuGlyValArgArgAsnAspIleGlnIleValSerLeuGlnSerSerGluProHisProHisLeuAspValLeuLeuPheValGluLysProGlySerAlaGlnIleSerThrLysGlnLeuLeuHisLysIleAsnSerSerValThrAspIleGluGluIleIleGlyValArgIleLeuAsnValPheGlnLysLeuCysAlaGlyLeuAspCysProTrpLysPheCysAspGluLysValSerValAspGluSerValMetSerThrHisSerThrAlaArgLeuSerPheValThrProArgHisHisArgAlaAlaValCysLeuCysLysGluGlyArgCysProProValHisHisGlyCysGluAspAspProCysProGluGlySerGluCysValSerAspProTrpGluGluLysHisThrCysValCysProSerGlyArgPheGlyGlnCysProGlySerSerSerMetThrLeuThrGlyAsnSerTyrValLysTyrArgLeuThrGluAsnGluAsnLysLeuGluMetLysLeuThrMetArgLeuArgThrTyrSerThrHisAlaValValMetTyrAlaArgGlyThrAspTyrSerIleLeuGluIleHisHisGlyArgLeuGlnTyrLysPheAspCysGlySerGlyProGlyIleValSerValGlnSerIleGlnValAsnAspGlyGlnTrpHisAlaValAlaLeuGluValAsnGlyAsnTyrAlaArgLeuValLeuAspGlnValHisThrAlaSerGlyThrAlaProGlyThrLeuLysThrLeuAsnLeuAspAsnTyrValPhePheGlyGlyHisIleArgGlnGlnGlyThrArgHisGlyArgSerProGlnValGlyAsnGlyPheArgGlyCysMetAspSerIleTyrLeuAsnGlyGlnGluLeuProLeuAsnSerLysProArgSerTyrAlaHisIleGluGluSerValAspValSerProGlyCysPheLeuThrAlaThrGluAspCysAlaSerAsnProCysGlnAsnGlyGlyValCysAsnProSerProAlaGlyGlyTyrTyrCysLysCysSerAlaLeuTyrIleGlyThrHisCysGluIleSerValAsnProCysSerSerLysProCysLeuTyrGlyGlyThrCysValValAspAsnGlyGlyPheValCysGlnCysArgGlyLeuTyrThrGlyGlnArgCysGlnLeuSerProTyrCysLysAspGluProCysLysAsnGlyGlyThrCysPheAspSerLeuAspGlyAlaValCysGlnCysAspSerGlyPheArgGlyGluArgCysGlnSerAspIleAspGluCysSerGlyAsnProCysLeuHisGlyAlaLeuCysGluAsnThrHisGlySerTyrHisCysAsnCysSerHisGluTyrArgGlyArgHisCysGluAspAlaAlaProAsnGlnTyrValSerThrProTrpAsnIleGlyLeuAlaGluGlyIleGlyIleValValPheValAlaGlyIlePheLeuLeuValValValPheValLeuCysArgLysMetIleSerArgLysLysLysHisGlnAlaGluProLysAspLysHisLeuGlyProAlaThrAlaPheLeuGlnArgProTyrPheAspSerLysLeuAsnLysAsnIleTyrSerAspIleProProGlnValProValArgProIleSerTyrThrProSerIleProSerAspSerArgAsnAsnLeuAspArgAsnSerPheGluGlySerAlaIleProGluHisProGluPheSerThrPheAsnProGluSerValHisGlyHisArgLysAlaValAlaValCysSerValAlaProAsnLeuProProProProProSerAsnSerProSerAspSerAspSerIleGlnLysProSerTrpAspPheAspTyrAspThrLysValValAspLeuAspProCysLeuSerLysLysProLeuGluGluLysProSerGlnProTyrSerAlaArgGluSerLeuSerGluValGlnSerLeuSerSerPheGlnSerGluSerCysAspAspAsnGlyTyrHisTrpAspThrSerAspTrpMetProSerValProLeuProAspIleGlnGluPheProAsnTyrGluValIleAspGluGlnThrProLeuTyrSerAlaAspProAsnAlaIleAspThrAspTyrTyrProGlyGlyTyrAspIleGluSerAspPheProProProProGluAspPheProAlaAlaAspGluLeuProProLeuProProGluPheSerAsnGlnPheGluSerIleHisProProArgAspMetProAlaAlaGlySerLeuGlySerSerSerArgAsnArgGlnArgPheAsnLeuAsnGlnTyrLeuProAsnPheTyrProLeuAspMetSerGluProGlnThrLysGlyThrGlyGluAsnSerThrCysArgGluProHisAlaProTyrProProGlyTyrGlnArgHisPheGluAlaProAlaValGluSerMetProMetSerValTyrAlaSerThrAlaSerCysSerAspValSerAlaCysCysGluValGluSerGluValMetMetSerAspTyrGluSerGlyAspAspGlyHisPheGluGluValThrIleProProLeuAspSerGlnGlnHisThrGluValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000441802.7:c.10993C>T"
          },
          "RefSeq": {
            "hgvs": "NM_005245.4:c.10993C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000406229.2:p.Arg3665Ter"
          },
          "RefSeq": {
            "hgvs": "NP_005236.2:p.Arg3665Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}