{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA012396",
  "communityStandardTitle": [
    "NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=910159",
        "active": true,
        "id": "COSM910159"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=181669[alleleid]",
        "alleleId": 181669,
        "preferredName": "NM_001048174.2(MUTYH):c.1165C>T (p.Arg389Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/185272",
        "RCV": [
          "RCV000164662",
          "RCV000233366",
          "RCV000482719",
          "RCV000656911"
        ],
        "variationId": 185272
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/1-45797166-G-A",
        "id": "1-45797166-G-A",
        "variant": "1:45797166 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.45797166G>A?assembly=hg19",
        "id": "chr1:g.45797166G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.45331494G>A?assembly=hg38",
        "id": "chr1:g.45331494G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/773370513",
        "rs": 773370513
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45797166-G-A?dataset=gnomad_r2_1",
        "id": "1-45797166-G-A",
        "variant": "1:45797166 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45331494-G-A?dataset=gnomad_r3",
        "id": "1-45331494-G-A",
        "variant": "1:45331494 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/1-45331494-G-A?dataset=gnomad_r4",
        "id": "1-45331494-G-A",
        "variant": "1:45331494 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 45331494,
          "referenceAllele": "G",
          "start": 45331493
        }
      ],
      "hgvs": [
        "NC_000001.11:g.45331494G>A",
        "CM000663.2:g.45331494G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 45797166,
          "referenceAllele": "G",
          "start": 45797165
        }
      ],
      "hgvs": [
        "NC_000001.10:g.45797166G>A",
        "CM000663.1:g.45797166G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 45569753,
          "referenceAllele": "G",
          "start": 45569752
        }
      ],
      "hgvs": [
        "NC_000001.9:g.45569753G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 13977,
          "referenceAllele": "C",
          "start": 13976
        }
      ],
      "hgvs": [
        "NG_008189.1:g.13977C>T",
        "LRG_220:g.13977C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000931"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000412971.6:c.781C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000410263.2:p.Arg261Cys",
        "hgvsWellDefined": "ENSP00000410263.2:p.Arg261Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914025"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000435155.2:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403655.2:p.Arg400Cys",
        "hgvsWellDefined": "ENSP00000403655.2:p.Arg400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914061"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1266,
          "referenceAllele": "C",
          "start": 1265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000467459.6:c.*27C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435889.2:n.*27C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914113"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1689,
          "referenceAllele": "C",
          "start": 1688
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000483127.2:c.1183C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436469.2:p.Arg395Cys",
        "hgvsWellDefined": "ENSP00000436469.2:p.Arg395Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914139"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000485271.6:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431264.2:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000431264.2:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1179,
          "referenceAllele": "C",
          "start": 1178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000529892.6:c.1018C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432528.2:p.Arg340Cys",
        "hgvsWellDefined": "ENSP00000432528.2:p.Arg340Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914235"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000533178.6:c.*494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436430.2:n.*494C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000672314.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500828.2:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000500828.2:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000710952.2:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518552.2:p.Arg417Cys",
        "hgvsWellDefined": "ENSP00000518552.2:p.Arg417Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914573",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000710952.2:c.1249C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128425.2:c.1249C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000518552.2:p.Arg417Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001121897.1:p.Arg417Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000672818.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500891.1:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000500891.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000456914.7:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407590.2:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000407590.2:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756574",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456914.7:c.1165C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001048174.2:c.1165C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407590.2:p.Arg389Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001041639.1:p.Arg389Cys"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "hgvs": [
        "ENST00000671898.1:c.1753C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000499896.1:p.Arg585Cys",
        "hgvsWellDefined": "ENSP00000499896.1:p.Arg585Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773205"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1772,
          "referenceAllele": "C",
          "start": 1771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000672011.1:c.*494C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500418.1:n.*494C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773239"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2295,
          "referenceAllele": "C",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000672314.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500828.1:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000500828.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773342"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1975,
          "referenceAllele": "C",
          "start": 1974
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000672593.1:c.*1391C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500455.1:n.*1391C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773427"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000672818.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500891.1:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000500891.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773501"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1027,
          "referenceAllele": "C",
          "start": 1026
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000673134.1:c.*862C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500526.1:n.*862C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773595"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1279,
          "referenceAllele": "C",
          "start": 1278
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000354383.10:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000346354.6:p.Arg390Cys",
        "hgvsWellDefined": "ENSP00000346354.6:p.Arg390Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247302"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000355498.6:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000347685.2:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000347685.2:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247152"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1374,
          "referenceAllele": "C",
          "start": 1373
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000372098.7:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361170.3:p.Arg414Cys",
        "hgvsWellDefined": "ENSP00000361170.3:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000372104.5:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361176.1:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000361176.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1344,
          "referenceAllele": "C",
          "start": 1343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000372110.7:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361182.3:p.Arg404Cys",
        "hgvsWellDefined": "ENSP00000361182.3:p.Arg404Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247212"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000372115.7:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361187.3:p.Arg403Cys",
        "hgvsWellDefined": "ENSP00000361187.3:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247144"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1241,
          "referenceAllele": "C",
          "start": 1240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000448481.5:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409718.1:p.Arg400Cys",
        "hgvsWellDefined": "ENSP00000409718.1:p.Arg400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246647"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000450313.5:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000408176.1:p.Arg417Cys",
        "hgvsWellDefined": "ENSP00000408176.1:p.Arg417Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247417"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1227,
          "referenceAllele": "C",
          "start": 1226
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000456914.6:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407590.2:p.Arg389Cys",
        "hgvsWellDefined": "ENSP00000407590.2:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247236"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 582,
          "referenceAllele": "C",
          "start": 581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000467459.5:c.582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000435889.1:n.582C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS310589"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1212,
          "referenceAllele": "C",
          "start": 1211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000475516.5:c.*978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433843.1:n.*978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS316785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000481571.5:c.*978C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436597.1:n.*978C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS321455"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000482094.5:n.486C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS321874"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 276,
          "referenceAllele": "C",
          "start": 275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000488731.6:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432330.1:p.Arg84Cys",
        "hgvsWellDefined": "ENSP00000432330.1:p.Arg84Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247146"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1261,
          "referenceAllele": "C",
          "start": 1260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000528013.6:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433130.2:p.Arg403Cys",
        "hgvsWellDefined": "ENSP00000433130.2:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247200"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 240,
          "referenceAllele": "C",
          "start": 239
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000529892.5:c.240C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247332"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000529984.5:c.250C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000437093.1:p.Arg84Cys",
        "hgvsWellDefined": "ENSP00000437093.1:p.Arg84Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247331"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 309,
          "endIntronDirection": "-",
          "endIntronOffset": 2056,
          "referenceAllele": "C",
          "start": 309,
          "startIntronDirection": "-",
          "startIntronOffset": 2057
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000531105.5:c.116-2057C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000431292.1:n.116-2057C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246639"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 794,
          "referenceAllele": "C",
          "start": 793
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "ENST00000533178.5:c.794C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000436430.1:n.794C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS357989"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048171.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041636.1:p.Arg403Cys",
        "hgvsWellDefined": "NP_001041636.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009856"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825428579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1314,
          "referenceAllele": "C",
          "start": 1313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048172.1:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041637.1:p.Arg390Cys",
        "hgvsWellDefined": "NP_001041637.1:p.Arg390Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009857"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825430192",
      "coordinates": [
        {
          "allele": "T",
          "end": 1311,
          "referenceAllele": "C",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048173.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041638.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_001041638.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009858"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825431803",
      "coordinates": [
        {
          "allele": "T",
          "end": 1230,
          "referenceAllele": "C",
          "start": 1229
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048174.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041639.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_001041639.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009859"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1465,
          "referenceAllele": "C",
          "start": 1464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001128425.1:c.1249C>T",
        "LRG_220t1:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121897.1:p.Arg417Cys",
        "hgvsWellDefined": "NP_001121897.1:p.Arg417Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011778"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826824240",
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293190.1:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280119.1:p.Arg404Cys",
        "hgvsWellDefined": "NP_001280119.1:p.Arg404Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024498"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826825879",
      "coordinates": [
        {
          "allele": "T",
          "end": 1263,
          "referenceAllele": "C",
          "start": 1262
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293191.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280120.1:p.Arg400Cys",
        "hgvsWellDefined": "NP_001280120.1:p.Arg400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024499"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826827213",
      "coordinates": [
        {
          "allele": "T",
          "end": 1359,
          "referenceAllele": "C",
          "start": 1358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293192.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280121.1:p.Arg297Cys",
        "hgvsWellDefined": "NP_001280121.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024500"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826828815",
      "coordinates": [
        {
          "allele": "T",
          "end": 1380,
          "referenceAllele": "C",
          "start": 1379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293195.1:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280124.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_001280124.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024502"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826829991",
      "coordinates": [
        {
          "allele": "T",
          "end": 1248,
          "referenceAllele": "C",
          "start": 1247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293196.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280125.1:p.Arg297Cys",
        "hgvsWellDefined": "NP_001280125.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS024503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829726689",
      "coordinates": [
        {
          "allele": "T",
          "end": 1456,
          "referenceAllele": "C",
          "start": 1455
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_012222.2:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036354.1:p.Arg414Cys",
        "hgvsWellDefined": "NP_036354.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032407"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1528,
          "referenceAllele": "C",
          "start": 1527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541497.1:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539799.1:p.Arg409Cys",
        "hgvsWellDefined": "XP_011539799.1:p.Arg409Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108434"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541498.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539800.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539800.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108435"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1286,
          "referenceAllele": "C",
          "start": 1285
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541499.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539801.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539801.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108436"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1463,
          "referenceAllele": "C",
          "start": 1462
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541500.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539802.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539802.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108437"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1411,
          "referenceAllele": "C",
          "start": 1410
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541501.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539803.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539803.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1444,
          "referenceAllele": "C",
          "start": 1443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541502.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539804.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539804.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541503.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539805.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539805.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108440"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1320,
          "referenceAllele": "C",
          "start": 1319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541504.1:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539806.1:p.Arg400Cys",
        "hgvsWellDefined": "XP_011539806.1:p.Arg400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108441"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 955,
          "referenceAllele": "C",
          "start": 954
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541505.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539807.1:p.Arg263Cys",
        "hgvsWellDefined": "XP_011539807.1:p.Arg263Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 953,
          "referenceAllele": "C",
          "start": 952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541506.1:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539808.1:p.Arg263Cys",
        "hgvsWellDefined": "XP_011539808.1:p.Arg263Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108443"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541507.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539809.1:p.Arg260Cys",
        "hgvsWellDefined": "XP_011539809.1:p.Arg260Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108444"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 818,
          "referenceAllele": "C",
          "start": 817
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541508.1:c.793C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539810.1:p.Arg265Cys",
        "hgvsWellDefined": "XP_011539810.1:p.Arg265Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS108445"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XR_946658.1:n.1296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS140241"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827557166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001350650.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337579.1:p.Arg274Cys",
        "hgvsWellDefined": "NP_001337579.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519533"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827558377",
      "coordinates": [
        {
          "allele": "T",
          "end": 1285,
          "referenceAllele": "C",
          "start": 1284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001350651.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337580.1:p.Arg274Cys",
        "hgvsWellDefined": "NP_001337580.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS519534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1423,
          "referenceAllele": "C",
          "start": 1422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NR_146882.1:n.1423C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530438"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1237,
          "referenceAllele": "C",
          "start": 1236
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NR_146883.1:n.1237C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS530439"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1523,
          "referenceAllele": "C",
          "start": 1522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541497.3:c.1225C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539799.1:p.Arg409Cys",
        "hgvsWellDefined": "XP_011539799.1:p.Arg409Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554460"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1501,
          "referenceAllele": "C",
          "start": 1500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541500.3:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539802.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539802.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554461"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1395,
          "referenceAllele": "C",
          "start": 1394
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541501.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539803.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539803.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554462"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541502.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539804.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539804.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554463"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541503.2:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539805.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_011539805.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554464"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1349,
          "referenceAllele": "C",
          "start": 1348
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541504.2:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539806.1:p.Arg400Cys",
        "hgvsWellDefined": "XP_011539806.1:p.Arg400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554465"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 969,
          "referenceAllele": "C",
          "start": 968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541505.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539807.1:p.Arg263Cys",
        "hgvsWellDefined": "XP_011539807.1:p.Arg263Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554466"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_011541506.2:c.787C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011539808.1:p.Arg263Cys",
        "hgvsWellDefined": "XP_011539808.1:p.Arg263Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS554467"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1299,
          "referenceAllele": "C",
          "start": 1298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001331.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856820.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_016856820.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557533"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1301,
          "referenceAllele": "C",
          "start": 1300
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001332.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856821.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_016856821.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557534"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1354,
          "referenceAllele": "C",
          "start": 1353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001333.1:c.1207C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856822.1:p.Arg403Cys",
        "hgvsWellDefined": "XP_016856822.1:p.Arg403Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557535"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1247,
          "referenceAllele": "C",
          "start": 1246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001334.1:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856823.1:p.Arg390Cys",
        "hgvsWellDefined": "XP_016856823.1:p.Arg390Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557536"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001335.1:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856824.1:p.Arg297Cys",
        "hgvsWellDefined": "XP_016856824.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1277,
          "referenceAllele": "C",
          "start": 1276
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001336.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856825.1:p.Arg274Cys",
        "hgvsWellDefined": "XP_016856825.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557538"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1217,
          "referenceAllele": "C",
          "start": 1216
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_017001337.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856826.1:p.Arg274Cys",
        "hgvsWellDefined": "XP_016856826.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557539"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_024447244.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303012.1:p.Arg274Cys",
        "hgvsWellDefined": "XP_024303012.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1187,
          "referenceAllele": "C",
          "start": 1186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_024447245.1:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303013.1:p.Arg274Cys",
        "hgvsWellDefined": "XP_024303013.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580833"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1158,
          "referenceAllele": "C",
          "start": 1157
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_024447248.1:c.778C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303016.1:p.Arg260Cys",
        "hgvsWellDefined": "XP_024303016.1:p.Arg260Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580836"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1510,
          "referenceAllele": "C",
          "start": 1509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_024447249.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303017.1:p.Arg217Cys",
        "hgvsWellDefined": "XP_024303017.1:p.Arg217Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580837"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1511,
          "referenceAllele": "C",
          "start": 1510
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_024447250.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303018.1:p.Arg217Cys",
        "hgvsWellDefined": "XP_024303018.1:p.Arg217Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XM_024447251.1:c.649C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303019.1:p.Arg217Cys",
        "hgvsWellDefined": "XP_024303019.1:p.Arg217Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XR_001737190.1:n.1210C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587991"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1022,
          "referenceAllele": "C",
          "start": 1021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XR_001737192.1:n.1022C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS587992"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1202,
          "referenceAllele": "C",
          "start": 1201
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XR_002956643.1:n.1202C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602781"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1737,
          "referenceAllele": "C",
          "start": 1736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XR_002956644.1:n.1737C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS602782"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1310,
          "referenceAllele": "C",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "XR_946658.2:n.1310C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS614413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825426969",
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048171.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041636.2:p.Arg389Cys",
        "hgvsWellDefined": "NP_001041636.2:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676107"
    },
    {
      "@id": "http://reg.genome.network/allele/PA191498",
      "coordinates": [
        {
          "allele": "T",
          "end": 1435,
          "referenceAllele": "C",
          "start": 1434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001128425.2:c.1249C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121897.1:p.Arg417Cys",
        "hgvsWellDefined": "NP_001121897.1:p.Arg417Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676985",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Plus Clinical",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000710952.2:c.1249C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001128425.2:c.1249C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000518552.2:p.Arg417Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001121897.1:p.Arg417Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825428579",
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048172.2:c.1168C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041637.1:p.Arg390Cys",
        "hgvsWellDefined": "NP_001041637.1:p.Arg390Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711730"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825430192",
      "coordinates": [
        {
          "allele": "T",
          "end": 1316,
          "referenceAllele": "C",
          "start": 1315
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048173.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041638.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_001041638.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711731"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825431803",
      "coordinates": [
        {
          "allele": "T",
          "end": 1243,
          "referenceAllele": "C",
          "start": 1242
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001048174.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001041639.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_001041639.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711732",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000456914.7:c.1165C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001048174.2:c.1165C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000407590.2:p.Arg389Cys"
          },
          "RefSeq": {
            "hgvs": "NP_001041639.1:p.Arg389Cys"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826824240",
      "coordinates": [
        {
          "allele": "T",
          "end": 1396,
          "referenceAllele": "C",
          "start": 1395
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293190.2:c.1210C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280119.1:p.Arg404Cys",
        "hgvsWellDefined": "NP_001280119.1:p.Arg404Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716759"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826825879",
      "coordinates": [
        {
          "allele": "T",
          "end": 1276,
          "referenceAllele": "C",
          "start": 1275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293191.2:c.1198C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280120.1:p.Arg400Cys",
        "hgvsWellDefined": "NP_001280120.1:p.Arg400Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716760"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826827213",
      "coordinates": [
        {
          "allele": "T",
          "end": 1329,
          "referenceAllele": "C",
          "start": 1328
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293192.2:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280121.1:p.Arg297Cys",
        "hgvsWellDefined": "NP_001280121.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716761"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826828815",
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293195.2:c.1165C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280124.1:p.Arg389Cys",
        "hgvsWellDefined": "NP_001280124.1:p.Arg389Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716762"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826829991",
      "coordinates": [
        {
          "allele": "T",
          "end": 1252,
          "referenceAllele": "C",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001293196.2:c.889C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001280125.1:p.Arg297Cys",
        "hgvsWellDefined": "NP_001280125.1:p.Arg297Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS716763"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827557166",
      "coordinates": [
        {
          "allele": "T",
          "end": 1319,
          "referenceAllele": "C",
          "start": 1318
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001350650.2:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337579.1:p.Arg274Cys",
        "hgvsWellDefined": "NP_001337579.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719606"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827558377",
      "coordinates": [
        {
          "allele": "T",
          "end": 1255,
          "referenceAllele": "C",
          "start": 1254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_001350651.2:c.820C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001337580.1:p.Arg274Cys",
        "hgvsWellDefined": "NP_001337580.1:p.Arg274Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS719607"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829726689",
      "coordinates": [
        {
          "allele": "T",
          "end": 1426,
          "referenceAllele": "C",
          "start": 1425
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NM_012222.3:c.1240C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_036354.1:p.Arg414Cys",
        "hgvsWellDefined": "NP_036354.1:p.Arg414Cys"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727852"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1393,
          "referenceAllele": "C",
          "start": 1392
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NR_146882.2:n.1393C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007527",
      "geneNCBI_id": 4595,
      "geneSymbol": "MUTYH",
      "hgvs": [
        "NR_146883.2:n.1242C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS731327"
    }
  ],
  "type": "nucleotide"
}