{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204048",
  "communityStandardTitle": [
    "NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=200985[alleleid]",
        "alleleId": 200985,
        "preferredName": "NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/204595",
        "RCV": [
          "RCV000186592",
          "RCV002272164",
          "RCV003401023"
        ],
        "variationId": 204595
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.58917335C>T?assembly=hg19",
        "id": "chr14:g.58917335C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.58450617C>T?assembly=hg38",
        "id": "chr14:g.58450617C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/796052128",
        "rs": 796052128
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-58917335-C-T?dataset=gnomad_r2_1",
        "id": "14-58917335-C-T",
        "variant": "14:58917335 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/14-58450617-C-T?dataset=gnomad_r4",
        "id": "14-58450617-C-T",
        "variant": "14:58450617 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 58450617,
          "referenceAllele": "C",
          "start": 58450616
        }
      ],
      "hgvs": [
        "NC_000014.9:g.58450617C>T",
        "CM000676.2:g.58450617C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 58917335,
          "referenceAllele": "C",
          "start": 58917334
        }
      ],
      "hgvs": [
        "NC_000014.8:g.58917335C>T",
        "CM000676.1:g.58917335C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "T",
          "end": 57987088,
          "referenceAllele": "C",
          "start": 57987087
        }
      ],
      "hgvs": [
        "NC_000014.7:g.57987088C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 28233,
          "referenceAllele": "C",
          "start": 28232
        }
      ],
      "hgvs": [
        "NG_051335.2:g.28233C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616961"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1013,
          "referenceAllele": "C",
          "start": 1012
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000619722.5:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481936.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762242"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000650845.1:n.1546C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS771347"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1572,
          "referenceAllele": "C",
          "start": 1571
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000650904.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498606.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771375"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1532,
          "referenceAllele": "C",
          "start": 1531
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000651937.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498785.1:p.Gln319Ter",
        "hgvsWellDefined": "ENSP00000498785.1:p.Gln319_Arg570delinsLysSerProLeuGluThrProAlaProArgArgPheAlaProValProValSerArgAspAspGluLeuSerLysArgGluAsnLeuLeuGluGluLysGluAsnMetGluValSerCysHisArgGlyAsnValArgLeuLeuGluGlnIleLeuAsnAsnAsnAspSerLeuThrArgLysSerGluSerSerAsnThrThrSerLeuThrArgSerLysIleGlyTrpThrProGluLysThrAsnArgPheProSerCysGluGluLeuGluThrThrLysValThrMetGlnLysSerAspAspValLeuHisAspLeuGlyGlnLysGluLysGluThrAsnSerMetValGlnProLysGluSerLeuSerMetLeuLysLeuProAspLeuProGlnAsnSerValLysLeuGlnThrThrAsnThrThrArgSerValLeuLysAspAlaGluLysIleLeuArgGlyValGlnAsnAsnLysLysValLeuGluGluAsnLeuGluAlaIleIleArgAlaLysAspGlyAlaAlaMetTyrSerLeuIleAsnAlaLeuSerThrAsnArgGluMetSerGluLysIleArgIleArgLysThrValAspGluTrpIleLysThrIleSerAlaGluIleGlnAspGluLeuSerArgThrAspTyrGluGlnLysArgPheAspGlnLysAsnGlnArgThrLysLysGlyAlaPheGluSerAsnHisSerAsnThrArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771939"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000652120.1:n.752C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772036"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000652326.2:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498929.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772145",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652326.2:c.1000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001329943.3:c.1000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498929.1:p.Gln334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001316872.1:p.Gln334Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "C",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000652732.1:c.*566C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498799.1:n.*566C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS772377"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 141,
          "referenceAllele": "C",
          "start": 140
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000676447.1:n.141C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776128"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1275,
          "referenceAllele": "C",
          "start": 1274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000261244.9:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000261244.5:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000354386.10:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346359.6:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1126,
          "referenceAllele": "C",
          "start": 1125
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000423743.7:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399427.3:p.Gln290Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287917"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 590,
          "referenceAllele": "C",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000538571.6:n.590C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS361394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "C",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000556134.5:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000452351.2:p.Gln290Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS371980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1229,
          "referenceAllele": "C",
          "start": 1228
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000619416.4:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000478083.1:p.Gln319Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404374"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "ENST00000619722.4:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000481936.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS404492"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244189.1:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231118.1:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018669"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1246,
          "referenceAllele": "C",
          "start": 1245
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244190.1:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231119.1:p.Gln319Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018670"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1054,
          "referenceAllele": "C",
          "start": 1053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244191.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231120.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018671"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1177,
          "referenceAllele": "C",
          "start": 1176
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244192.1:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231121.1:p.Gln290Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018672"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244193.1:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231122.1:p.Gln194Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018673"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1273,
          "referenceAllele": "C",
          "start": 1272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_014749.3:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055564.3:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033431"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329943.2:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316872.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516451"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329944.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316873.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516452"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 939,
          "referenceAllele": "C",
          "start": 938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329945.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316874.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516453"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329946.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316875.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329947.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316876.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS516455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001364700.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351629.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523921"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001364701.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351630.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523922"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1589,
          "referenceAllele": "C",
          "start": 1588
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_014749.4:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055564.3:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525616"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449779.1:c.1123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305547.1:p.Gln375Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449780.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305548.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449781.1:c.1123C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305549.1:p.Gln375Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 962,
          "referenceAllele": "C",
          "start": 961
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449782.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305550.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583327"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449783.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305551.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583328"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449784.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305552.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583329"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 932,
          "referenceAllele": "C",
          "start": 931
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449785.1:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305553.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583330"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1110,
          "referenceAllele": "C",
          "start": 1109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449787.1:c.604C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305555.1:p.Gln202Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449788.1:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305556.1:p.Gln194Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 704,
          "referenceAllele": "C",
          "start": 703
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449789.1:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305557.1:p.Gln194Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583333"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "XM_024449791.1:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024305559.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS583334"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1388,
          "referenceAllele": "C",
          "start": 1387
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244189.2:c.1159C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231118.1:p.Gln387Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680294"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244190.2:c.955C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231119.1:p.Gln319Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680295"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1162,
          "referenceAllele": "C",
          "start": 1161
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244192.2:c.868C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231121.1:p.Gln290Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680296"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329943.3:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316872.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686720",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000652326.2:c.1000C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001329943.3:c.1000C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000498929.1:p.Gln334Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001316872.1:p.Gln334Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329944.2:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316873.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686721"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329945.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316874.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329946.2:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316875.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686723"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001329947.2:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001316876.1:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686724"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001364701.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001351630.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690948"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1546,
          "referenceAllele": "C",
          "start": 1545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_014749.5:c.1000C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_055564.3:p.Gln334Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1039,
          "referenceAllele": "C",
          "start": 1038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244191.2:c.745C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231120.1:p.Gln249Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714547"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019960",
      "geneNCBI_id": 9786,
      "geneSymbol": "KIAA0586",
      "hgvs": [
        "NM_001244193.2:c.580C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001231122.1:p.Gln194Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714548"
    }
  ],
  "type": "nucleotide"
}