{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5293886",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=253346[alleleid]",
        "alleleId": 253346,
        "preferredName": "NM_001077365.2(POMT1):c.1986C>T (p.Ile662=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/260145",
        "RCV": [
          "RCV000248748",
          "RCV000725195",
          "RCV001089075"
        ],
        "variationId": 260145
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-134397594-C-T",
        "id": "9-134397594-C-T",
        "variant": "9:134397594 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134397594C>T?assembly=hg19",
        "id": "chr9:g.134397594C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131522207C>T?assembly=hg38",
        "id": "chr9:g.131522207C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/140553130",
        "rs": 140553130
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134397594-C-T?dataset=gnomad_r2_1",
        "id": "9-134397594-C-T",
        "variant": "9:134397594 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131522207-C-T?dataset=gnomad_r3",
        "id": "9-131522207-C-T",
        "variant": "9:131522207 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131522207-C-T?dataset=gnomad_r4",
        "id": "9-131522207-C-T",
        "variant": "9:131522207 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 131522207,
          "referenceAllele": "C",
          "start": 131522206
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131522207C>T",
        "CM000671.2:g.131522207C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134397594,
          "referenceAllele": "C",
          "start": 134397593
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134397594C>T",
        "CM000671.1:g.134397594C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133387415,
          "referenceAllele": "C",
          "start": 133387414
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133387415C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24306,
          "referenceAllele": "C",
          "start": 24305
        }
      ],
      "hgvs": [
        "NG_008896.1:g.24306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24306,
          "referenceAllele": "C",
          "start": 24305
        }
      ],
      "hgvs": [
        "NG_008896.2:g.24306C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "referenceAllele": "C",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2526,
          "referenceAllele": "C",
          "start": 2525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.2526C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2043,
          "referenceAllele": "C",
          "start": 2042
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.2043C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Ile681="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*2330C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*2330C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3076,
          "referenceAllele": "C",
          "start": 3075
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*2169C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*2169C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.2296C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2390,
          "referenceAllele": "C",
          "start": 2389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.2390C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4578,
          "referenceAllele": "C",
          "start": 4577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.4578C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2391,
          "referenceAllele": "C",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.2391C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3886,
          "referenceAllele": "C",
          "start": 3885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.3886C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2652,
          "referenceAllele": "C",
          "start": 2651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.2652C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3832,
          "referenceAllele": "C",
          "start": 3831
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.3832C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2022,
          "referenceAllele": "C",
          "start": 2021
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:p.Ile285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2367,
          "referenceAllele": "C",
          "start": 2366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1986C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1986C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Ile662="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Ile662="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2424,
          "referenceAllele": "C",
          "start": 2423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1303,
          "referenceAllele": "C",
          "start": 1302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.1047C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:p.Ile349="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1721,
          "referenceAllele": "C",
          "start": 1720
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.*1201C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.*1201C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.1530C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Ile510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1920,
          "referenceAllele": "C",
          "start": 1919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*1696C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*1696C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1011,
          "referenceAllele": "C",
          "start": 1010
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677221.1:n.1011C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.*1208C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:n.*1208C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.1931C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1353,
          "referenceAllele": "C",
          "start": 1352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.1353C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1801,
          "referenceAllele": "C",
          "start": 1800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1751,
          "referenceAllele": "C",
          "start": 1750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.*994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.*994C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2391,
          "referenceAllele": "C",
          "start": 2390
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.*1363C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:n.*1363C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2052,
          "referenceAllele": "C",
          "start": 2051
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.1896C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Ile632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2699,
          "referenceAllele": "C",
          "start": 2698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*2235C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*2235C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2819,
          "referenceAllele": "C",
          "start": 2818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.*1931C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:n.*1931C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2476,
          "referenceAllele": "C",
          "start": 2475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*2125C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*2125C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.1822C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2443,
          "referenceAllele": "C",
          "start": 2442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*2152C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*2152C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2353,
          "referenceAllele": "C",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*1738C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*1738C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.1605C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2285,
          "referenceAllele": "C",
          "start": 2284
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.*742C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:n.*742C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.4:c.849C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.4:p.Ile283="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2231,
          "referenceAllele": "C",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2146,
          "referenceAllele": "C",
          "start": 2145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1929,
          "referenceAllele": "C",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2536,
          "referenceAllele": "C",
          "start": 2535
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000485278.5:n.2536C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 529,
          "referenceAllele": "C",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000494883.1:n.529C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446073",
      "coordinates": [
        {
          "allele": "T",
          "end": 2188,
          "referenceAllele": "C",
          "start": 2187
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447276",
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816012",
      "coordinates": [
        {
          "allele": "T",
          "end": 2428,
          "referenceAllele": "C",
          "start": 2427
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817130",
      "coordinates": [
        {
          "allele": "T",
          "end": 1929,
          "referenceAllele": "C",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2380,
          "referenceAllele": "C",
          "start": 2379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2109,
          "referenceAllele": "C",
          "start": 2108
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.1890C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Ile630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "C",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.1701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Ile567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2384,
          "referenceAllele": "C",
          "start": 2383
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Ile285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.1701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Ile567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.1905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Ile635="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.1839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Ile613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.1743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Ile581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "C",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.1737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Ile579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.1596C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Ile532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1030,
          "referenceAllele": "C",
          "start": 1029
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518147.1:c.924C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516449.1:p.Ile308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2228,
          "referenceAllele": "C",
          "start": 2227
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.2228C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2494,
          "referenceAllele": "C",
          "start": 2493
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713893",
      "coordinates": [
        {
          "allele": "T",
          "end": 2276,
          "referenceAllele": "C",
          "start": 2275
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714424",
      "coordinates": [
        {
          "allele": "T",
          "end": 2081,
          "referenceAllele": "C",
          "start": 2080
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714998",
      "coordinates": [
        {
          "allele": "T",
          "end": 2098,
          "referenceAllele": "C",
          "start": 2097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.1896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Ile632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.1890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Ile630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2803,
          "referenceAllele": "C",
          "start": 2802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.1890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Ile630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1995,
          "referenceAllele": "C",
          "start": 1994
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.1701C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Ile567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717221",
      "coordinates": [
        {
          "allele": "T",
          "end": 1782,
          "referenceAllele": "C",
          "start": 1781
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.1530C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Ile510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2036,
          "referenceAllele": "C",
          "start": 2035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.2036C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2254,
          "referenceAllele": "C",
          "start": 2253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.2254C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.2175C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1929,
          "referenceAllele": "C",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.1929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.2327C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.1961C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.2086C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.2041C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2567,
          "referenceAllele": "C",
          "start": 2566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.2567C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2166,
          "referenceAllele": "C",
          "start": 2165
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.2166C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2422,
          "referenceAllele": "C",
          "start": 2421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Ile285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2032,
          "referenceAllele": "C",
          "start": 2031
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.1701C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Ile567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2107,
          "referenceAllele": "C",
          "start": 2106
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.1905C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Ile635="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2041,
          "referenceAllele": "C",
          "start": 2040
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.1839C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Ile613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.1743C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Ile581="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1939,
          "referenceAllele": "C",
          "start": 1938
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.1737C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Ile579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1775,
          "referenceAllele": "C",
          "start": 1774
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.1596C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Ile532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2181,
          "referenceAllele": "C",
          "start": 2180
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:p.Ile285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1764,
          "referenceAllele": "C",
          "start": 1763
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:p.Ile285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2257,
          "referenceAllele": "C",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.1161C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:p.Ile387="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3820,
          "referenceAllele": "C",
          "start": 3819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.855C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:p.Ile285="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2156,
          "referenceAllele": "C",
          "start": 2155
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.2156C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2361,
          "referenceAllele": "C",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.2361C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2078,
          "referenceAllele": "C",
          "start": 2077
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.2078C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2373,
          "referenceAllele": "C",
          "start": 2372
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.2373C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446073",
      "coordinates": [
        {
          "allele": "T",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1986C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1986C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Ile662="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Ile662="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447276",
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816012",
      "coordinates": [
        {
          "allele": "T",
          "end": 2412,
          "referenceAllele": "C",
          "start": 2411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.1986C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Ile662="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817130",
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713314",
      "coordinates": [
        {
          "allele": "T",
          "end": 2478,
          "referenceAllele": "C",
          "start": 2477
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713893",
      "coordinates": [
        {
          "allele": "T",
          "end": 2260,
          "referenceAllele": "C",
          "start": 2259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.1824C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Ile608="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714424",
      "coordinates": [
        {
          "allele": "T",
          "end": 2065,
          "referenceAllele": "C",
          "start": 2064
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714998",
      "coordinates": [
        {
          "allele": "T",
          "end": 2082,
          "referenceAllele": "C",
          "start": 2081
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.1896C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Ile632="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715598",
      "coordinates": [
        {
          "allele": "T",
          "end": 2086,
          "referenceAllele": "C",
          "start": 2085
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.1890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Ile630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716187",
      "coordinates": [
        {
          "allele": "T",
          "end": 2787,
          "referenceAllele": "C",
          "start": 2786
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.1890C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Ile630="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716728",
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.1701C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Ile567="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717221",
      "coordinates": [
        {
          "allele": "T",
          "end": 1766,
          "referenceAllele": "C",
          "start": 1765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.1530C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Ile510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536050",
      "coordinates": [
        {
          "allele": "T",
          "end": 2170,
          "referenceAllele": "C",
          "start": 2169
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.1974C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Ile658="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536585",
      "coordinates": [
        {
          "allele": "T",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.1767C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Ile589="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537116",
      "coordinates": [
        {
          "allele": "T",
          "end": 2102,
          "referenceAllele": "C",
          "start": 2101
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537616",
      "coordinates": [
        {
          "allele": "T",
          "end": 2014,
          "referenceAllele": "C",
          "start": 2013
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538121",
      "coordinates": [
        {
          "allele": "T",
          "end": 1831,
          "referenceAllele": "C",
          "start": 1830
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.1635C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Ile545="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538622",
      "coordinates": [
        {
          "allele": "T",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.1596C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Ile532="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829695163",
      "coordinates": [
        {
          "allele": "T",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.2052C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Ile684="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.2020C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2238,
          "referenceAllele": "C",
          "start": 2237
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.2238C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2159,
          "referenceAllele": "C",
          "start": 2158
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.2159C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.1913C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2311,
          "referenceAllele": "C",
          "start": 2310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.2311C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1945,
          "referenceAllele": "C",
          "start": 1944
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.1945C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2070,
          "referenceAllele": "C",
          "start": 2069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.2070C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "C",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.2025C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.2551C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2150,
          "referenceAllele": "C",
          "start": 2149
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.2150C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}