{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA315960",
  "communityStandardTitle": [
    "NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=201748[alleleid]",
        "alleleId": 201748,
        "preferredName": "NM_001371596.2(MFSD8):c.599G>A (p.Trp200Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/206149",
        "RCV": [
          "RCV000188167",
          "RCV002516999"
        ],
        "variationId": 206149
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.128861107C>T?assembly=hg19",
        "id": "chr4:g.128861107C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.127939952C>T?assembly=hg38",
        "id": "chr4:g.127939952C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/558274487",
        "rs": 558274487
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 127939952,
          "referenceAllele": "C",
          "start": 127939951
        }
      ],
      "hgvs": [
        "NC_000004.12:g.127939952C>T",
        "CM000666.2:g.127939952C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 128861107,
          "referenceAllele": "C",
          "start": 128861106
        }
      ],
      "hgvs": [
        "NC_000004.11:g.128861107C>T",
        "CM000666.1:g.128861107C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 129080557,
          "referenceAllele": "C",
          "start": 129080556
        }
      ],
      "hgvs": [
        "NC_000004.10:g.129080557C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 31033,
          "referenceAllele": "G",
          "start": 31032
        }
      ],
      "hgvs": [
        "NG_008657.1:g.31033G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001150"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.8:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000296468.3:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744420"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 815,
          "referenceAllele": "G",
          "start": 814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000505284.6:n.815G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758047"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000508441.2:n.614G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS758141"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 657,
          "referenceAllele": "G",
          "start": 656
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.2:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.2:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000421176.2:p.Trp200_Arg236delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "endIntronDirection": "-",
          "endIntronOffset": 1115,
          "referenceAllele": "G",
          "start": 648,
          "startIntronDirection": "-",
          "startIntronOffset": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.6:c.419-1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.2:n.419-1116G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.6:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493056.1:p.Trp155Ter",
        "hgvsWellDefined": "ENSP00000493056.1:p.Trp155_Gln291delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758377"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641025.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493346.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493346.1:p.Trp200_Gln336delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 574,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 574,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641092.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493392.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765837"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641133.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493192.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493192.1:p.Trp200_Glu268delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGlnAspLeuThrLeuLeuLeuArgLeuGluGlySerGlyThrIleSerAlaGlnCysAsnLeuHisLeuProAspSerArgIleLeuIleProGlnLeuProGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765868"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 547,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 547,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641134.1:c.419-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492925.1:n.419-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765869"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 465,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641147.1:c.304+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493133.1:n.304+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765881"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "referenceAllele": "G",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641178.1:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492989.1:p.Trp155Ter",
        "hgvsWellDefined": "ENSP00000492989.1:p.Trp155_Glu473delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765900"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 674,
          "referenceAllele": "G",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641186.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493347.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000493347.1:p.Trp162_Glu480delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765905"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 600,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 600,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641228.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493194.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765936"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641243.1:c.554-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493083.1:n.554-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765949"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641264.1:c.*396G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492908.1:n.*396G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS765963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641332.1:c.554-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493397.1:n.554-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766011"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 611,
          "referenceAllele": "G",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641340.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493191.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493191.1:p.Trp200_Arg236delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766015"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 242,
          "referenceAllele": "G",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641369.1:c.95G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493037.1:p.Trp32Ter",
        "hgvsWellDefined": "ENSP00000493037.1:p.Trp32Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766035"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 496,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 496,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641393.1:c.304+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493197.1:n.304+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766053"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 448,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 448,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641397.1:c.439+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493406.1:n.439+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766056"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 637,
          "referenceAllele": "G",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641434.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493279.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493279.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766079"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 511,
          "referenceAllele": "G",
          "start": 510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641464.1:c.350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493438.1:p.Trp117Ter",
        "hgvsWellDefined": "ENSP00000493438.1:p.Trp117_Arg153delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766101"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641482.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493277.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493277.1:p.Trp200_Gln336delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766113"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641503.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493304.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000493304.1:p.Trp162_Thr250delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766128"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641508.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493209.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493209.1:p.Trp200_Arg236delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 477,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 477,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641509.1:c.439+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493459.1:n.439+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 445,
          "referenceAllele": "G",
          "start": 444
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641538.1:c.445G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766155"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 497,
          "referenceAllele": "G",
          "start": 496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641590.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493132.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000493132.1:p.Trp162_Gln298delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766193"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 544,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 544,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641658.1:c.419-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492987.1:n.419-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766243"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641686.2:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493218.2:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493218.2:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766264",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.599G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.599G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Trp200Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Trp200Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641690.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492966.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766268"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "referenceAllele": "G",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641695.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493134.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493134.1:p.Trp200_Gly237delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgThrSerCysGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766273"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 599,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641742.1:c.554-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493315.1:n.554-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766303"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641743.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493130.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493130.1:p.Trp200_Thr288delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766304"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 656,
          "referenceAllele": "G",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641748.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493330.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493330.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766308"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 426,
          "referenceAllele": "G",
          "start": 425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641753.1:c.426G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766311"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "referenceAllele": "G",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641774.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492960.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000492960.1:p.Trp162_Arg198delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766326"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 442,
          "referenceAllele": "G",
          "start": 441
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641776.1:c.*151G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493261.1:n.*151G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766327"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 430,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641843.1:c.305-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493174.1:n.305-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766379"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 3,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641869.1:c.4-1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766400"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 568,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 568,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641870.1:c.554-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493044.1:n.554-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766401"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 557,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 557,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641882.1:c.440-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493301.1:n.440-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766408"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641928.1:c.350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493418.1:p.Trp117Ter",
        "hgvsWellDefined": "ENSP00000493418.1:p.Trp117_Arg153delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766442"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 584,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 584,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000641949.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492891.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766455"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 510,
          "referenceAllele": "G",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642034.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493285.1:p.Trp162Ter",
        "hgvsWellDefined": "ENSP00000493285.1:p.Trp162_Gln298delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766514"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 646,
          "referenceAllele": "G",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642042.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493260.1:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000493260.1:p.Trp200_Pro455delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 582,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 582,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642078.1:c.419-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000492885.1:n.419-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 90,
          "endIntronDirection": "-",
          "endIntronOffset": 9134,
          "referenceAllele": "G",
          "start": 90,
          "startIntronDirection": "-",
          "startIntronOffset": 9135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642121.1:n.91-9135G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766571"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 398,
          "endIntronDirection": "-",
          "endIntronOffset": 350,
          "referenceAllele": "G",
          "start": 398,
          "startIntronDirection": "-",
          "startIntronOffset": 351
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000642143.1:n.399-351G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS766583"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 727,
          "referenceAllele": "G",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000296468.7:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000296468.3:p.Trp200Ter",
        "hgvsWellDefined": "ENSP00000296468.3:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254307"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 494,
          "referenceAllele": "G",
          "start": 493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000505284.5:n.494G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS337117"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000508441.1:n.566-1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS339461"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 465,
          "referenceAllele": "G",
          "start": 464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000509826.1:c.350G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421176.1:p.Trp117Ter",
        "hgvsWellDefined": "ENSP00000421176.1:p.Trp117_Arg153delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuSerLysTyrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS340504"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000513559.5:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000425000.1:p.Trp155Ter",
        "hgvsWellDefined": "ENSP00000425000.1:p.Trp155_Glu473delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS343275"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1045,
          "referenceAllele": "G",
          "start": 1044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "ENST00000515130.5:n.1045G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS344445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315961",
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.2:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Trp200Ter",
        "hgvsWellDefined": "NP_689991.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS042142"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262893.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262950.1:p.Trp200Ter",
        "hgvsWellDefined": "XP_005262950.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063603"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1115,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262896.1:c.554-1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262953.1:n.554-1116G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063604"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262897.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262954.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063605"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.2:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:p.Trp200Ter",
        "hgvsWellDefined": "XP_005262955.1:p.Trp200_Gln336delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063606"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262900.2:c.554-1114G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262957.1:n.554-1114G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS063607"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531830.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530132.1:p.Trp162Ter",
        "hgvsWellDefined": "XP_011530132.1:p.Trp162_Glu480delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098862"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 516,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 516,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531831.1:c.439+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530133.1:n.439+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098863"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_011531832.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011530134.1:p.Trp162Ter",
        "hgvsWellDefined": "XP_011530134.1:p.Trp162_Gln298delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS098864"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.1:n.676G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS133415"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 675,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 675,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.1:c.439+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:n.439+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523348"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_005262898.3:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005262955.1:p.Trp200Ter",
        "hgvsWellDefined": "XP_005262955.1:p.Trp200_Gln336delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysPheAlaGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS535566"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_017007989.1:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016863478.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562614"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 673,
          "referenceAllele": "G",
          "start": 672
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453981.1:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309749.1:p.Trp155Ter",
        "hgvsWellDefined": "XP_024309749.1:p.Trp155_Glu473delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587353"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453982.1:c.350G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309750.1:p.Trp117Ter",
        "hgvsWellDefined": "XP_024309750.1:p.Trp117_Glu435delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587354"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 469,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 469,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XM_024453983.1:c.304+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024309751.1:n.304+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS587355"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741194.1:n.676G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 562,
          "referenceAllele": "G",
          "start": 561
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741195.1:n.562G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741196.1:n.630+2093G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591234"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741197.1:n.631-1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741198.2:n.631-1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591236"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 630,
          "endIntronDirection": "-",
          "endIntronOffset": 1113,
          "referenceAllele": "G",
          "start": 630,
          "startIntronDirection": "-",
          "startIntronOffset": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_001741199.1:n.631-1114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591237"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 676,
          "referenceAllele": "G",
          "start": 675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "XR_938717.2:n.676G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS612030"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "endIntronDirection": "+",
          "endIntronOffset": 2093,
          "referenceAllele": "G",
          "start": 593,
          "startIntronDirection": "+",
          "startIntronOffset": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363520.2:c.553+2093G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350449.1:n.553+2093G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690673"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 479,
          "endIntronDirection": "+",
          "endIntronOffset": 3800,
          "referenceAllele": "G",
          "start": 479,
          "startIntronDirection": "+",
          "startIntronOffset": 3799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001363521.2:c.439+3800G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350450.1:n.439+3800G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690674"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492375",
      "coordinates": [
        {
          "allele": "A",
          "end": 604,
          "referenceAllele": "G",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371590.1:c.464G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358519.1:p.Trp155Ter",
        "hgvsWellDefined": "NP_001358519.1:p.Trp155_Glu473delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828492911",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371591.1:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358520.1:p.Trp200Ter",
        "hgvsWellDefined": "NP_001358520.1:p.Trp200_Glu521delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnValSerGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573072360",
      "coordinates": [
        {
          "allele": "A",
          "end": 645,
          "referenceAllele": "G",
          "start": 644
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371592.1:c.605G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358521.1:p.Trp202Ter",
        "hgvsWellDefined": "NP_001358521.1:p.Trp202_Glu520delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828440935",
      "coordinates": [
        {
          "allele": "A",
          "end": 525,
          "referenceAllele": "G",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371593.1:c.485G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358522.1:p.Trp162Ter",
        "hgvsWellDefined": "NP_001358522.1:p.Trp162_Glu480delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692985"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 593,
          "endIntronDirection": "-",
          "endIntronOffset": 1115,
          "referenceAllele": "G",
          "start": 593,
          "startIntronDirection": "-",
          "startIntronOffset": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371594.1:c.554-1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358523.1:n.554-1116G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692986"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 591,
          "endIntronDirection": "-",
          "endIntronOffset": 1115,
          "referenceAllele": "G",
          "start": 591,
          "startIntronDirection": "-",
          "startIntronOffset": 1116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371595.1:c.419-1116G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358524.1:n.419-1116G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692987"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828444344",
      "coordinates": [
        {
          "allele": "A",
          "end": 639,
          "referenceAllele": "G",
          "start": 638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_001371596.2:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001358525.1:p.Trp200Ter",
        "hgvsWellDefined": "NP_001358525.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS692988",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000641686.2:c.599G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001371596.2:c.599G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000493218.2:p.Trp200Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001358525.1:p.Trp200Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA315961",
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.3:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Trp200Ter",
        "hgvsWellDefined": "NP_689991.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700257"
    },
    {
      "@id": "http://reg.genome.network/allele/PA315961",
      "coordinates": [
        {
          "allele": "A",
          "end": 741,
          "referenceAllele": "G",
          "start": 740
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028486",
      "geneNCBI_id": 256471,
      "geneSymbol": "MFSD8",
      "hgvs": [
        "NM_152778.4:c.599G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_689991.1:p.Trp200Ter",
        "hgvsWellDefined": "NP_689991.1:p.Trp200_Glu518delinsAspValIleLysLeuGlnIleAsnMetTyrThrThrProValLeuLeuSerAlaPheLeuGlyIleLeuAsnIleIleLeuIleLeuAlaIleLeuArgGluHisArgValAspAspSerGlyArgGlnCysLysSerIleAsnPheGluGluAlaSerThrAspGluAlaGlnValProGlnGlyAsnIleAspGlnValAlaValValAlaIleAsnValLeuPhePheValThrLeuPheIlePheAlaLeuPheGluThrIleIleThrProLeuThrMetAspMetTyrAlaTrpThrGlnGluGlnAlaValLeuTyrAsnGlyIleIleLeuAlaAlaLeuGlyValGluAlaValValIlePheLeuGlyValLysLeuLeuSerLysLysIleGlyGluArgAlaIleLeuLeuGlyGlyLeuIleValValTrpValGlyPhePheIleLeuLeuProTrpGlyAsnGlnPheProLysIleGlnTrpGluAspLeuHisAsnAsnSerIleProAsnThrThrPheGlyGluIleIleIleGlyLeuTrpLysSerProMetGluAspAspAsnGluArgProThrGlyCysSerIleGluGlnAlaTrpCysLeuTyrThrProValIleHisLeuAlaGlnPheLeuThrSerAlaValLeuIleGlyLeuGlyTyrProValCysAsnLeuMetSerTyrThrLeuTyrSerLysIleLeuGlyProLysProGlnGlyValTyrMetGlyTrpLeuThrAlaSerGlySerGlyAlaArgIleLeuGlyProMetPheIleSerGlnValTyrAlaHisTrpGlyProArgTrpAlaPheSerLeuValCysGlyIleIleValLeuThrIleThrLeuLeuGlyValValTyrLysArgLeuIleAlaLeuSerValArgTyrGlyArgIleGlnGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729430"
    }
  ],
  "type": "nucleotide"
}