{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10606256",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=273111[alleleid]",
        "alleleId": 273111,
        "preferredName": "NM_001077365.2(POMT1):c.1933C>T (p.Leu645=)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/288874",
        "RCV": [
          "RCV000317771"
        ],
        "variationId": 288874
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134397541C>T?assembly=hg19",
        "id": "chr9:g.134397541C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131522154C>T?assembly=hg38",
        "id": "chr9:g.131522154C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/750972624",
        "rs": 750972624
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134397541-C-T?dataset=gnomad_r2_1",
        "id": "9-134397541-C-T",
        "variant": "9:134397541 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131522154-C-T?dataset=gnomad_r4",
        "id": "9-131522154-C-T",
        "variant": "9:131522154 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 131522154,
          "referenceAllele": "C",
          "start": 131522153
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131522154C>T",
        "CM000671.2:g.131522154C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 134397541,
          "referenceAllele": "C",
          "start": 134397540
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134397541C>T",
        "CM000671.1:g.134397541C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "T",
          "end": 133387362,
          "referenceAllele": "C",
          "start": 133387361
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133387362C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24253,
          "referenceAllele": "C",
          "start": 24252
        }
      ],
      "hgvs": [
        "NG_008896.1:g.24253C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 24253,
          "referenceAllele": "C",
          "start": 24252
        }
      ],
      "hgvs": [
        "NG_008896.2:g.24253C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "C",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2473,
          "referenceAllele": "C",
          "start": 2472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.2473C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1990,
          "referenceAllele": "C",
          "start": 1989
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.1990C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Leu664="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2497,
          "referenceAllele": "C",
          "start": 2496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*2277C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*2277C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3023,
          "referenceAllele": "C",
          "start": 3022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*2116C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*2116C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 2290,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.2291-48C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2337,
          "referenceAllele": "C",
          "start": 2336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.2337C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 4572,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 4572,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.4573-48C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.2338C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3833,
          "referenceAllele": "C",
          "start": 3832
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.3833C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2599,
          "referenceAllele": "C",
          "start": 2598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.2599C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3779,
          "referenceAllele": "C",
          "start": 3778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.3779C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1160,
          "referenceAllele": "C",
          "start": 1159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684679.1:n.1160C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829630"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1969,
          "referenceAllele": "C",
          "start": 1968
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1071,
          "referenceAllele": "C",
          "start": 1070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2314,
          "referenceAllele": "C",
          "start": 2313
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "referenceAllele": "C",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1933C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1933C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Leu645="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Leu645="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2371,
          "referenceAllele": "C",
          "start": 2370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1250,
          "referenceAllele": "C",
          "start": 1249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:p.Leu332="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1668,
          "referenceAllele": "C",
          "start": 1667
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.*1148C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.*1148C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Leu493="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1867,
          "referenceAllele": "C",
          "start": 1866
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*1643C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*1643C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 958,
          "referenceAllele": "C",
          "start": 957
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677221.1:n.958C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS776884"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2290,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 2290,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.*1203-48C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:n.*1203-48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1878,
          "referenceAllele": "C",
          "start": 1877
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.1878C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1300,
          "referenceAllele": "C",
          "start": 1299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.1300C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1748,
          "referenceAllele": "C",
          "start": 1747
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1698,
          "referenceAllele": "C",
          "start": 1697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.*941C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.*941C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678202.1:n.1092C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2338,
          "referenceAllele": "C",
          "start": 2337
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.*1310C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:n.*1310C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1999,
          "referenceAllele": "C",
          "start": 1998
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Leu615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2646,
          "referenceAllele": "C",
          "start": 2645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*2182C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*2182C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2766,
          "referenceAllele": "C",
          "start": 2765
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.*1878C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:n.*1878C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2423,
          "referenceAllele": "C",
          "start": 2422
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*2072C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*2072C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1769,
          "referenceAllele": "C",
          "start": 1768
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.1769C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2437,
          "endIntronDirection": "-",
          "endIntronOffset": 47,
          "referenceAllele": "C",
          "start": 2437,
          "startIntronDirection": "-",
          "startIntronOffset": 48
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*2147-48C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*2147-48C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2300,
          "referenceAllele": "C",
          "start": 2299
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*1685C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*1685C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1941,
          "referenceAllele": "C",
          "start": 1940
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1552,
          "referenceAllele": "C",
          "start": 1551
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.1552C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2232,
          "referenceAllele": "C",
          "start": 2231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.*689C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:n.*689C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 796,
          "referenceAllele": "C",
          "start": 795
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.4:c.796C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.4:p.Leu266="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268983"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2178,
          "referenceAllele": "C",
          "start": 2177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2483,
          "referenceAllele": "C",
          "start": 2482
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000485278.5:n.2483C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS324344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 476,
          "referenceAllele": "C",
          "start": 475
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000494883.1:n.476C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS331706"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446050",
      "coordinates": [
        {
          "allele": "T",
          "end": 2135,
          "referenceAllele": "C",
          "start": 2134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447251",
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815990",
      "coordinates": [
        {
          "allele": "T",
          "end": 2375,
          "referenceAllele": "C",
          "start": 2374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817111",
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "C",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2327,
          "referenceAllele": "C",
          "start": 2326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2056,
          "referenceAllele": "C",
          "start": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.1837C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Leu613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Leu550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2331,
          "referenceAllele": "C",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Leu550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2054,
          "referenceAllele": "C",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.1852C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Leu618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.1786C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Leu596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.1690C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Leu564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.1684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Leu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Leu515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518147.1:c.871C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516449.1:p.Leu291="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2175,
          "referenceAllele": "C",
          "start": 2174
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.2175C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2441,
          "referenceAllele": "C",
          "start": 2440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713880",
      "coordinates": [
        {
          "allele": "T",
          "end": 2223,
          "referenceAllele": "C",
          "start": 2222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714411",
      "coordinates": [
        {
          "allele": "T",
          "end": 2028,
          "referenceAllele": "C",
          "start": 2027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714985",
      "coordinates": [
        {
          "allele": "T",
          "end": 2045,
          "referenceAllele": "C",
          "start": 2044
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Leu615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2049,
          "referenceAllele": "C",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.1837C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Leu613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2750,
          "referenceAllele": "C",
          "start": 2749
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.1837C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Leu613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1942,
          "referenceAllele": "C",
          "start": 1941
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Leu550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717208",
      "coordinates": [
        {
          "allele": "T",
          "end": 1729,
          "referenceAllele": "C",
          "start": 1728
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Leu493="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.1983C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2201,
          "referenceAllele": "C",
          "start": 2200
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.2201C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2122,
          "referenceAllele": "C",
          "start": 2121
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.2122C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1876,
          "referenceAllele": "C",
          "start": 1875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.1876C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2274,
          "referenceAllele": "C",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.2274C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1908,
          "referenceAllele": "C",
          "start": 1907
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.1908C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2033,
          "referenceAllele": "C",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.2033C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.1988C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2514,
          "referenceAllele": "C",
          "start": 2513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.2514C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2113,
          "referenceAllele": "C",
          "start": 2112
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.2113C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2369,
          "referenceAllele": "C",
          "start": 2368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1979,
          "referenceAllele": "C",
          "start": 1978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Leu550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2054,
          "referenceAllele": "C",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.1852C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Leu618="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1988,
          "referenceAllele": "C",
          "start": 1987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.1786C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Leu596="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1856,
          "referenceAllele": "C",
          "start": 1855
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.1690C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Leu564="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1886,
          "referenceAllele": "C",
          "start": 1885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.1684C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Leu562="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1722,
          "referenceAllele": "C",
          "start": 1721
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Leu515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2128,
          "referenceAllele": "C",
          "start": 2127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1711,
          "referenceAllele": "C",
          "start": 1710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2204,
          "referenceAllele": "C",
          "start": 2203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.1108C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:p.Leu370="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3767,
          "referenceAllele": "C",
          "start": 3766
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.802C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:p.Leu268="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2103,
          "referenceAllele": "C",
          "start": 2102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.2103C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2308,
          "referenceAllele": "C",
          "start": 2307
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.2308C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2025,
          "referenceAllele": "C",
          "start": 2024
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.2025C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2320,
          "referenceAllele": "C",
          "start": 2319
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.2320C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446050",
      "coordinates": [
        {
          "allele": "T",
          "end": 2119,
          "referenceAllele": "C",
          "start": 2118
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.1933C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.1933C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Leu645="
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Leu645="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825447251",
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815990",
      "coordinates": [
        {
          "allele": "T",
          "end": 2359,
          "referenceAllele": "C",
          "start": 2358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.1933C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Leu645="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825817111",
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713301",
      "coordinates": [
        {
          "allele": "T",
          "end": 2425,
          "referenceAllele": "C",
          "start": 2424
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713880",
      "coordinates": [
        {
          "allele": "T",
          "end": 2207,
          "referenceAllele": "C",
          "start": 2206
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.1771C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Leu591="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714411",
      "coordinates": [
        {
          "allele": "T",
          "end": 2012,
          "referenceAllele": "C",
          "start": 2011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714985",
      "coordinates": [
        {
          "allele": "T",
          "end": 2029,
          "referenceAllele": "C",
          "start": 2028
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.1843C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Leu615="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715585",
      "coordinates": [
        {
          "allele": "T",
          "end": 2033,
          "referenceAllele": "C",
          "start": 2032
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.1837C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Leu613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716175",
      "coordinates": [
        {
          "allele": "T",
          "end": 2734,
          "referenceAllele": "C",
          "start": 2733
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.1837C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Leu613="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716716",
      "coordinates": [
        {
          "allele": "T",
          "end": 1926,
          "referenceAllele": "C",
          "start": 1925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.1648C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Leu550="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827717208",
      "coordinates": [
        {
          "allele": "T",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.1477C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Leu493="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536037",
      "coordinates": [
        {
          "allele": "T",
          "end": 2117,
          "referenceAllele": "C",
          "start": 2116
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.1921C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Leu641="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536572",
      "coordinates": [
        {
          "allele": "T",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.1714C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Leu572="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537103",
      "coordinates": [
        {
          "allele": "T",
          "end": 2049,
          "referenceAllele": "C",
          "start": 2048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537604",
      "coordinates": [
        {
          "allele": "T",
          "end": 1961,
          "referenceAllele": "C",
          "start": 1960
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538108",
      "coordinates": [
        {
          "allele": "T",
          "end": 1778,
          "referenceAllele": "C",
          "start": 1777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.1582C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Leu528="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538609",
      "coordinates": [
        {
          "allele": "T",
          "end": 1880,
          "referenceAllele": "C",
          "start": 1879
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.1543C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Leu515="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829695148",
      "coordinates": [
        {
          "allele": "T",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.1999C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Leu667="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1967,
          "referenceAllele": "C",
          "start": 1966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.1967C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2185,
          "referenceAllele": "C",
          "start": 2184
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.2185C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2106,
          "referenceAllele": "C",
          "start": 2105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.2106C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1860,
          "referenceAllele": "C",
          "start": 1859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.1860C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2258,
          "referenceAllele": "C",
          "start": 2257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.2258C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1892,
          "referenceAllele": "C",
          "start": 1891
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.1892C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2017,
          "referenceAllele": "C",
          "start": 2016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.2017C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1972,
          "referenceAllele": "C",
          "start": 1971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.1972C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2498,
          "referenceAllele": "C",
          "start": 2497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.2498C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2097,
          "referenceAllele": "C",
          "start": 2096
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.2097C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}