{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16042068",
  "communityStandardTitle": [
    "NM_000249.4(MLH1):c.454-1G>C"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=358738[alleleid]",
        "alleleId": 358738,
        "preferredName": "NM_000249.4(MLH1):c.454-1G>C"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/371909",
        "RCV": [
          "RCV000410339",
          "RCV000472090",
          "RCV000568411",
          "RCV000684811"
        ],
        "variationId": 371909
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37050304G>C?assembly=hg19",
        "id": "chr3:g.37050304G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.37008813G>C?assembly=hg38",
        "id": "chr3:g.37008813G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193922370",
        "rs": 193922370
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 37008813,
          "referenceAllele": "G",
          "start": 37008812
        }
      ],
      "hgvs": [
        "NC_000003.12:g.37008813G>C",
        "CM000665.2:g.37008813G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 37050304,
          "referenceAllele": "G",
          "start": 37050303
        }
      ],
      "hgvs": [
        "NC_000003.11:g.37050304G>C",
        "CM000665.1:g.37050304G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "C",
          "end": 37025308,
          "referenceAllele": "G",
          "start": 37025307
        }
      ],
      "hgvs": [
        "NC_000003.10:g.37025308G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 20464,
          "referenceAllele": "G",
          "start": 20463
        }
      ],
      "hgvs": [
        "NG_007109.2:g.20464G>C",
        "LRG_216:g.20464G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000485"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 644,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 644,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413740.2:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416476.2:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.6:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.2:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000450420.6:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000393006.2:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914085"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.7:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416687.3:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914097"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458009.6:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000411066.2:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914099"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 511,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.6:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000518393.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914167"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 529,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 529,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000616768.6:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480669.3:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 775,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 775,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.2:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500979.2:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914447"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.8:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.3:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740875",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.454-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.454-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:n.454-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:n.454-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 443,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 443,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000413212.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400844.2:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.6:c.*534-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*534-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 549,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 549,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.6:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.2:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 468,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 468,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000442249.6:n.469-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755895"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 369,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 369,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000447829.6:c.91-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399329.2:n.91-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS756143"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.6:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759598"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 406,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 406,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673673.1:c.407-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773774"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 484,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 484,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673713.1:n.485-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773810"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673715.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501301.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773811"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 379,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 379,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673897.1:c.*246-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501109.1:n.*246-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773953"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 512,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 512,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673899.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501030.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773955"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 719,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 719,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673947.1:c.*594-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501304.1:n.*594-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773999"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 481,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 481,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673972.1:c.*332-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501281.1:n.*332-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774014"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 438,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 438,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000673990.1:n.439-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774028"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 588,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 588,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674019.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501081.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774050"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 395,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 395,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674107.1:n.396-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS774126"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 506,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 506,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000674111.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000501162.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS774130"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 669,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 669,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000231790.6:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000231790.2:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS246728"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 471,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 471,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000429117.5:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407019.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247399"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 704,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 704,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000432299.5:c.*534-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000416783.1:n.*534-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS292022"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 419,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 419,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000435176.5:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402564.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247390"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 424,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 424,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000441265.5:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398392.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247125"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 377,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 377,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000442249.5:c.*246-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000387511.1:n.*246-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296790"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000454028.5:c.*327-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000392649.1:n.*327-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS302384"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 425,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 425,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000455445.6:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000398272.2:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247178"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 428,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 428,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000456676.6:c.429-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS247416"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 381,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 381,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000457004.5:c.*233-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000407773.1:n.*233-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS303743"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 597,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 597,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000458205.6:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402667.2:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247365"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 486,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 486,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000466900.5:n.487-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310149"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 457,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 457,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000485889.1:n.458-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324815"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 476,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 476,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000492474.5:n.477-1G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS329848"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000536378.5:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000444286.2:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247118"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "ENST00000539477.5:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000443665.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247348"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.3:c.454-1G>C",
        "LRG_216t1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006311"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.1:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014972"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 446,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 446,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014973"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.1:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014974"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019757"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 560,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 560,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019759"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 596,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 596,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019760"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 541,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 541,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 451,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 451,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265163.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265220.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 504,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 504,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265164.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265221.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 459,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265166.1:c.-476-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265223.1:n.-476-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS064530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 459,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 459,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_011533727.1:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_011532029.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS100748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.2:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511683"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 873,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 873,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511684"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.2:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511685"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1023,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1023,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511992"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.1:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522556"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 646,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.1:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522557"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522558"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522559"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1002,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 1002,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.1:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522560"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.1:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522561"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.1:c.-363-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:n.-363-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522562"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.1:c.-476-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:n.-476-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522563"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 787,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 787,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.1:c.-476-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:n.-476-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522564"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.1:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522565"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 641,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 641,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.1:c.-282+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-282+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522566"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 646,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 646,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.1:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522567"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 878,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 878,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.1:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522568"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522569"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 552,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 552,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.1:c.355-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:n.355-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522570"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 651,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 651,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.1:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522571"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 514,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 514,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_005265161.2:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_005265218.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536007"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 490,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 490,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "XM_017006450.2:c.-363-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "XP_016861939.1:n.-363-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS561484"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_000249.4:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000240.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674761",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000231790.8:c.454-1G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000249.4:c.454-1G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000231790.3:n.454-1G>C"
          },
          "RefSeq": {
            "hgvs": "NP_000240.1:n.454-1G>C"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167617.3:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161089.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713242"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 705,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 705,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167618.3:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161090.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713243"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001167619.3:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001161091.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258271.2:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245200.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714924"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 392,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 392,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258273.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245202.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714925"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 855,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 855,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001258274.3:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001245203.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714926"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354615.2:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341544.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720517"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354616.2:c.-179+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341545.1:n.-179+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720518"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354617.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341546.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720519"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354618.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341547.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720520"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 834,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 834,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354619.2:c.-270-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341548.1:n.-270-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 473,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354620.2:c.160-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341549.1:n.160-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720522"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354621.2:c.-363-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341550.1:n.-363-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720523"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354622.2:c.-476-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341551.1:n.-476-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 619,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 619,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354623.2:c.-476-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341552.1:n.-476-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354624.2:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341553.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720526"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 473,
          "endIntronDirection": "+",
          "endIntronOffset": 1750,
          "referenceAllele": "G",
          "start": 473,
          "startIntronDirection": "+",
          "startIntronOffset": 1749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354625.2:c.-282+1750G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341554.1:n.-282+1750G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720527"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 478,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 478,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354626.2:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341555.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720528"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 710,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 710,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354627.2:c.-373-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341556.1:n.-373-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720529"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354628.2:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341557.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720530"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 384,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 384,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354629.2:c.355-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341558.1:n.355-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720531"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 483,
          "endIntronDirection": "-",
          "endIntronOffset": 0,
          "referenceAllele": "G",
          "start": 483,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007127",
      "geneNCBI_id": 4292,
      "geneSymbol": "MLH1",
      "hgvs": [
        "NM_001354630.2:c.454-1G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_001341559.1:n.454-1G>C"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720532"
    }
  ],
  "type": "nucleotide"
}