{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5293811",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4776066",
        "active": true,
        "id": "COSM4776066"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4776067",
        "active": true,
        "id": "COSM4776067"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4776068",
        "active": true,
        "id": "COSM4776068"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=488730[alleleid]",
        "alleleId": 488730,
        "preferredName": "NM_001077365.2(POMT1):c.1749C>T (p.Leu583=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/497306",
        "RCV": [
          "RCV000596333",
          "RCV002062003"
        ],
        "variationId": 497306
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-134396783-C-T",
        "id": "9-134396783-C-T",
        "variant": "9:134396783 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134396783C>T?assembly=hg19",
        "id": "chr9:g.134396783C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131521396C>T?assembly=hg38",
        "id": "chr9:g.131521396C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/755379319",
        "rs": 755379319
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134396783-C-T?dataset=gnomad_r2_1",
        "id": "9-134396783-C-T",
        "variant": "9:134396783 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131521396-C-T?dataset=gnomad_r3",
        "id": "9-131521396-C-T",
        "variant": "9:131521396 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131521396-C-T?dataset=gnomad_r4",
        "id": "9-131521396-C-T",
        "variant": "9:131521396 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 131521396,
          "referenceAllele": "C",
          "start": 131521395
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131521396C>T",
        "CM000671.2:g.131521396C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134396783,
          "referenceAllele": "C",
          "start": 134396782
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134396783C>T",
        "CM000671.1:g.134396783C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133386604,
          "referenceAllele": "C",
          "start": 133386603
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133386604C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23495,
          "referenceAllele": "C",
          "start": 23494
        }
      ],
      "hgvs": [
        "NG_008896.1:g.23495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 23495,
          "referenceAllele": "C",
          "start": 23494
        }
      ],
      "hgvs": [
        "NG_008896.2:g.23495C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2289,
          "referenceAllele": "C",
          "start": 2288
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.2289C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1806,
          "referenceAllele": "C",
          "start": 1805
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.1806C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Leu602="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2313,
          "referenceAllele": "C",
          "start": 2312
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*2093C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*2093C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2839,
          "referenceAllele": "C",
          "start": 2838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*1932C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*1932C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.2214C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2153,
          "referenceAllele": "C",
          "start": 2152
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.2153C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4496,
          "referenceAllele": "C",
          "start": 4495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.4496C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.2154C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3649,
          "referenceAllele": "C",
          "start": 3648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.3649C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2415,
          "referenceAllele": "C",
          "start": 2414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.2415C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3595,
          "referenceAllele": "C",
          "start": 3594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.3595C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 976,
          "referenceAllele": "C",
          "start": 975
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684679.1:n.976C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1785,
          "referenceAllele": "C",
          "start": 1784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 887,
          "referenceAllele": "C",
          "start": 886
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2130,
          "referenceAllele": "C",
          "start": 2129
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1749C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1749C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Leu583="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Leu583="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2187,
          "referenceAllele": "C",
          "start": 2186
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1066,
          "referenceAllele": "C",
          "start": 1065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.810C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:p.Leu270="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1484,
          "referenceAllele": "C",
          "start": 1483
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.*964C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.*964C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1683,
          "referenceAllele": "C",
          "start": 1682
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*1459C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*1459C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 774,
          "referenceAllele": "C",
          "start": 773
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677221.1:n.774C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2214,
          "referenceAllele": "C",
          "start": 2213
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.*1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:n.*1126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1694,
          "referenceAllele": "C",
          "start": 1693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.1694C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.1116C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1564,
          "referenceAllele": "C",
          "start": 1563
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1514,
          "referenceAllele": "C",
          "start": 1513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.*757C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.*757C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 908,
          "referenceAllele": "C",
          "start": 907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678202.1:n.908C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2154,
          "referenceAllele": "C",
          "start": 2153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.*1126C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:n.*1126C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1815,
          "referenceAllele": "C",
          "start": 1814
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.1659C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Leu553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2462,
          "referenceAllele": "C",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*1998C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*1998C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2582,
          "referenceAllele": "C",
          "start": 2581
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.*1694C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:n.*1694C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2172,
          "referenceAllele": "C",
          "start": 2171
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*1821C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*1821C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1585,
          "referenceAllele": "C",
          "start": 1584
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.1585C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2361,
          "referenceAllele": "C",
          "start": 2360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*2070C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*2070C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*1501C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*1501C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1757,
          "referenceAllele": "C",
          "start": 1756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1368,
          "referenceAllele": "C",
          "start": 1367
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.1368C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2048,
          "referenceAllele": "C",
          "start": 2047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.*505C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:n.*505C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "C",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.4:c.612C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.4:p.Leu204="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1994,
          "referenceAllele": "C",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1909,
          "referenceAllele": "C",
          "start": 1908
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "C",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 453,
          "referenceAllele": "C",
          "start": 452
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000467848.1:n.453C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS310907"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2299,
          "referenceAllele": "C",
          "start": 2298
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000485278.5:n.2299C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000494883.1:n.292C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445966",
      "coordinates": [
        {
          "allele": "T",
          "end": 1951,
          "referenceAllele": "C",
          "start": 1950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447156",
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
          "referenceAllele": "C",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815898",
      "coordinates": [
        {
          "allele": "T",
          "end": 2191,
          "referenceAllele": "C",
          "start": 2190
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817010",
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2143,
          "referenceAllele": "C",
          "start": 2142
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1872,
          "referenceAllele": "C",
          "start": 1871
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1762,
          "referenceAllele": "C",
          "start": 1761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.1464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2147,
          "referenceAllele": "C",
          "start": 2146
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.1464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.1668C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Leu556="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1804,
          "referenceAllele": "C",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.1602C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Leu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.1506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Leu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.1500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Leu500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.1359C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Leu453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 793,
          "referenceAllele": "C",
          "start": 792
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518147.1:c.687C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516449.1:p.Leu229="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1991,
          "referenceAllele": "C",
          "start": 1990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.1991C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2257,
          "referenceAllele": "C",
          "start": 2256
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713833",
      "coordinates": [
        {
          "allele": "T",
          "end": 2039,
          "referenceAllele": "C",
          "start": 2038
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714364",
      "coordinates": [
        {
          "allele": "T",
          "end": 1844,
          "referenceAllele": "C",
          "start": 1843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714938",
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.1659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Leu553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2566,
          "referenceAllele": "C",
          "start": 2565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1758,
          "referenceAllele": "C",
          "start": 1757
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.1464C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717161",
      "coordinates": [
        {
          "allele": "T",
          "end": 1545,
          "referenceAllele": "C",
          "start": 1544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1799,
          "referenceAllele": "C",
          "start": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.1799C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.2017C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1938,
          "referenceAllele": "C",
          "start": 1937
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.1938C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1692,
          "referenceAllele": "C",
          "start": 1691
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.1692C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2090,
          "referenceAllele": "C",
          "start": 2089
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.2090C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1724,
          "referenceAllele": "C",
          "start": 1723
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.1724C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.1849C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1804,
          "referenceAllele": "C",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.1804C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.2330C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1929,
          "referenceAllele": "C",
          "start": 1928
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.1929C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1795,
          "referenceAllele": "C",
          "start": 1794
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.1464C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1870,
          "referenceAllele": "C",
          "start": 1869
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.1668C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Leu556="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1804,
          "referenceAllele": "C",
          "start": 1803
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.1602C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Leu534="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1672,
          "referenceAllele": "C",
          "start": 1671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.1506C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Leu502="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1702,
          "referenceAllele": "C",
          "start": 1701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.1500C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Leu500="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1538,
          "referenceAllele": "C",
          "start": 1537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.1359C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Leu453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1527,
          "referenceAllele": "C",
          "start": 1526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2020,
          "referenceAllele": "C",
          "start": 2019
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.924C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:p.Leu308="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3583,
          "referenceAllele": "C",
          "start": 3582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.618C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:p.Leu206="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1919,
          "referenceAllele": "C",
          "start": 1918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.1919C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2124,
          "referenceAllele": "C",
          "start": 2123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.2124C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1841,
          "referenceAllele": "C",
          "start": 1840
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.1841C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.2136C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445966",
      "coordinates": [
        {
          "allele": "T",
          "end": 1935,
          "referenceAllele": "C",
          "start": 1934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1749C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1749C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Leu583="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Leu583="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447156",
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815898",
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.1749C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Leu583="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817010",
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713254",
      "coordinates": [
        {
          "allele": "T",
          "end": 2241,
          "referenceAllele": "C",
          "start": 2240
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713833",
      "coordinates": [
        {
          "allele": "T",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.1587C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Leu529="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714364",
      "coordinates": [
        {
          "allele": "T",
          "end": 1828,
          "referenceAllele": "C",
          "start": 1827
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714938",
      "coordinates": [
        {
          "allele": "T",
          "end": 1845,
          "referenceAllele": "C",
          "start": 1844
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.1659C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Leu553="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715538",
      "coordinates": [
        {
          "allele": "T",
          "end": 1849,
          "referenceAllele": "C",
          "start": 1848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716128",
      "coordinates": [
        {
          "allele": "T",
          "end": 2550,
          "referenceAllele": "C",
          "start": 2549
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.1653C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Leu551="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716669",
      "coordinates": [
        {
          "allele": "T",
          "end": 1742,
          "referenceAllele": "C",
          "start": 1741
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.1464C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Leu488="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717161",
      "coordinates": [
        {
          "allele": "T",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.1293C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Leu431="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828535990",
      "coordinates": [
        {
          "allele": "T",
          "end": 1933,
          "referenceAllele": "C",
          "start": 1932
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.1737C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Leu579="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536525",
      "coordinates": [
        {
          "allele": "T",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.1530C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Leu510="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537056",
      "coordinates": [
        {
          "allele": "T",
          "end": 1865,
          "referenceAllele": "C",
          "start": 1864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537557",
      "coordinates": [
        {
          "allele": "T",
          "end": 1777,
          "referenceAllele": "C",
          "start": 1776
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538061",
      "coordinates": [
        {
          "allele": "T",
          "end": 1594,
          "referenceAllele": "C",
          "start": 1593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.1398C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Leu466="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538562",
      "coordinates": [
        {
          "allele": "T",
          "end": 1696,
          "referenceAllele": "C",
          "start": 1695
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.1359C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Leu453="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829695087",
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.1815C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Leu605="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1783,
          "referenceAllele": "C",
          "start": 1782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.1783C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2001,
          "referenceAllele": "C",
          "start": 2000
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.2001C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.1922C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1676,
          "referenceAllele": "C",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.1676C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2074,
          "referenceAllele": "C",
          "start": 2073
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.2074C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1708,
          "referenceAllele": "C",
          "start": 1707
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.1708C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1833,
          "referenceAllele": "C",
          "start": 1832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.1833C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1788,
          "referenceAllele": "C",
          "start": 1787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.1788C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "referenceAllele": "C",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.2314C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1913,
          "referenceAllele": "C",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.1913C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}