{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA375307440",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2058707[alleleid]",
        "alleleId": 2058707,
        "preferredName": "NM_001077365.2(POMT1):c.689C>G (p.Thr230Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2004641",
        "RCV": [
          "RCV002816236"
        ],
        "variationId": 2004641
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134385373C>G?assembly=hg19",
        "id": "chr9:g.134385373C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131509986C>G?assembly=hg38",
        "id": "chr9:g.131509986C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2539136806",
        "rs": 2539136806
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131509986-C-G?dataset=gnomad_r4",
        "id": "9-131509986-C-G",
        "variant": "9:131509986 C / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 131509986,
          "referenceAllele": "C",
          "start": 131509985
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131509986C>G",
        "CM000671.2:g.131509986C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134385373,
          "referenceAllele": "C",
          "start": 134385372
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134385373C>G",
        "CM000671.1:g.134385373C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133375194,
          "referenceAllele": "C",
          "start": 133375193
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133375194C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12085,
          "referenceAllele": "C",
          "start": 12084
        }
      ],
      "hgvs": [
        "NG_008896.1:g.12085C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 12085,
          "referenceAllele": "C",
          "start": 12084
        }
      ],
      "hgvs": [
        "NG_008896.2:g.12085C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000343034.7:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.798C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 680,
          "referenceAllele": "C",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.680C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Thr227Ser",
        "hgvsWellDefined": "ENSP00000404119.2:p.Thr227Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 196,
          "referenceAllele": "C",
          "start": 195
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.7:n.196C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 985,
          "referenceAllele": "C",
          "start": 984
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*765C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*765C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1779,
          "referenceAllele": "C",
          "start": 1778
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*872C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 544,
          "referenceAllele": "C",
          "start": 543
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678942.2:c.384C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504690.2:p.Asp128Glu",
        "hgvsWellDefined": "ENSP00000504690.2:p.Asp128Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.886C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.691C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 66,
          "endIntronDirection": "+",
          "endIntronOffset": 178,
          "referenceAllele": "C",
          "start": 66,
          "startIntronDirection": "+",
          "startIntronOffset": 177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683134.1:c.66+178C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828119"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3173,
          "referenceAllele": "C",
          "start": 3172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.3173C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.826C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 84,
          "referenceAllele": "C",
          "start": 83
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683855.1:n.84C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1753,
          "referenceAllele": "C",
          "start": 1752
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.1753C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1092,
          "referenceAllele": "C",
          "start": 1091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.1092C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2267,
          "referenceAllele": "C",
          "start": 2266
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.2267C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000343034.7:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 2054,
          "referenceAllele": "C",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 2055
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.-145-2055C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:n.-145-2055C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1004,
          "referenceAllele": "C",
          "start": 1003
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000361302.3:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000385797.4:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.689C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.689C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Thr230Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Thr230Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 370,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000415075.6:c.*250-371C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405149.2:n.*250-371C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000430619.2:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402083.2:p.Thr78Ser",
        "hgvsWellDefined": "ENSP00000402083.2:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 513,
          "referenceAllele": "C",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.6:n.513C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1127,
          "referenceAllele": "C",
          "start": 1126
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000503281.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 273,
          "referenceAllele": "C",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.-126-274C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:n.-126-274C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 429,
          "endIntronDirection": "-",
          "endIntronOffset": 273,
          "referenceAllele": "C",
          "start": 429,
          "startIntronDirection": "-",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.189-274C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.189-274C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 702,
          "referenceAllele": "C",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676915.1:c.542C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504628.1:p.Thr181Ser",
        "hgvsWellDefined": "ENSP00000504628.1:p.Thr181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Thr78Ser",
        "hgvsWellDefined": "ENSP00000502936.1:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*399C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*399C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Thr113Ser",
        "hgvsWellDefined": "ENSP00000503772.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 370,
          "referenceAllele": "C",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677293.1:c.-29-371C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504278.1:n.-29-371C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000504346.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 232,
          "referenceAllele": "C",
          "start": 231
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.232C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 273,
          "referenceAllele": "C",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 274
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.181-274C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 693,
          "referenceAllele": "C",
          "start": 692
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000503552.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "referenceAllele": "C",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677677.1:n.649C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 761,
          "referenceAllele": "C",
          "start": 760
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677729.1:c.*136C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503581.1:n.*136C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 370,
          "referenceAllele": "C",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.378-371C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.378-371C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 58,
          "endIntronDirection": "-",
          "endIntronOffset": 370,
          "referenceAllele": "C",
          "start": 58,
          "startIntronDirection": "-",
          "startIntronOffset": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677944.1:c.59-371C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 826,
          "referenceAllele": "C",
          "start": 825
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000503157.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 755,
          "referenceAllele": "C",
          "start": 754
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.599C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Thr200Ser",
        "hgvsWellDefined": "ENSP00000503696.1:p.Thr200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1336,
          "referenceAllele": "C",
          "start": 1335
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*872C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*872C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 686,
          "referenceAllele": "C",
          "start": 685
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000503062.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*493C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*493C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.381C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 372,
          "referenceAllele": "C",
          "start": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678693.1:n.372C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 327,
          "referenceAllele": "C",
          "start": 326
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678707.1:n.327C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1038,
          "referenceAllele": "C",
          "start": 1037
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*747C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*747C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 751,
          "referenceAllele": "C",
          "start": 750
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*136C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*136C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000503718.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 400,
          "referenceAllele": "C",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.400C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000504257.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 467,
          "referenceAllele": "C",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Thr113Ser",
        "hgvsWellDefined": "ENSP00000503356.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000343034.7:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 868,
          "referenceAllele": "C",
          "start": 867
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000361302.3:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 849,
          "referenceAllele": "C",
          "start": 848
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000385797.3:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Thr113Ser",
        "hgvsWellDefined": "ENSP00000384531.2:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 370,
          "referenceAllele": "C",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 371
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000415075.5:c.189-371C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405149.1:n.189-371C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Thr230Ser",
        "hgvsWellDefined": "ENSP00000404119.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 525,
          "referenceAllele": "C",
          "start": 524
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000430619.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402083.1:p.Thr113Ser",
        "hgvsWellDefined": "ENSP00000402083.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000441334.5:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395060.1:p.Thr113Ser",
        "hgvsWellDefined": "ENSP00000395060.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 663,
          "referenceAllele": "C",
          "start": 662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000448212.5:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403736.1:p.Thr176Ser",
        "hgvsWellDefined": "ENSP00000403736.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 247,
          "referenceAllele": "C",
          "start": 246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.5:n.247C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445350",
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Thr230Ser",
        "hgvsWellDefined": "NP_001070833.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446483",
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001070834.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815330",
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Thr230Ser",
        "hgvsWellDefined": "NP_001129585.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816354",
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001129586.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Thr230Ser",
        "hgvsWellDefined": "NP_009102.3:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1017,
          "referenceAllele": "C",
          "start": 1016
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Thr230Ser",
        "hgvsWellDefined": "XP_005272213.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 746,
          "referenceAllele": "C",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Thr176Ser",
        "hgvsWellDefined": "XP_005272215.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 636,
          "referenceAllele": "C",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Thr113Ser",
        "hgvsWellDefined": "XP_005272216.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.-711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:n.-711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Thr113Ser",
        "hgvsWellDefined": "XP_006716995.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.542C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Thr181Ser",
        "hgvsWellDefined": "XP_011516442.1:p.Thr181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.542C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Thr181Ser",
        "hgvsWellDefined": "XP_011516443.1:p.Thr181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.380C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Thr127Ser",
        "hgvsWellDefined": "XP_011516444.1:p.Thr127Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.435C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Asp145Glu",
        "hgvsWellDefined": "XP_011516445.1:p.Asp145Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518144.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516446.1:p.Thr230Ser",
        "hgvsWellDefined": "XP_011516446.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Thr78Ser",
        "hgvsWellDefined": "XP_011516447.1:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518146.1:c.435C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516448.1:p.Asp145Glu",
        "hgvsWellDefined": "XP_011516448.1:p.Asp145Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.865C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Thr230Ser",
        "hgvsWellDefined": "NP_001340122.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713508",
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001340123.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714039",
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001340124.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714613",
      "coordinates": [
        {
          "allele": "G",
          "end": 801,
          "referenceAllele": "C",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.599C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Thr200Ser",
        "hgvsWellDefined": "NP_001340125.1:p.Thr200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001340126.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1440,
          "referenceAllele": "C",
          "start": 1439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001340127.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 632,
          "referenceAllele": "C",
          "start": 631
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001340128.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716848",
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "C",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Thr78Ser",
        "hgvsWellDefined": "NP_001340129.1:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.739C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.891C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.739C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.627C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 891,
          "referenceAllele": "C",
          "start": 890
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.891C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 520,
          "referenceAllele": "C",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.520C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.784C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 739,
          "referenceAllele": "C",
          "start": 738
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.739C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.1131C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 725,
          "referenceAllele": "C",
          "start": 724
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.725C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 857,
          "referenceAllele": "C",
          "start": 856
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.-711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:n.-711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 669,
          "referenceAllele": "C",
          "start": 668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Thr113Ser",
        "hgvsWellDefined": "XP_006716995.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.542C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Thr181Ser",
        "hgvsWellDefined": "XP_011516442.1:p.Thr181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.542C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Thr181Ser",
        "hgvsWellDefined": "XP_011516443.1:p.Thr181Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.380C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Thr127Ser",
        "hgvsWellDefined": "XP_011516444.1:p.Thr127Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.435C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Asp145Glu",
        "hgvsWellDefined": "XP_011516445.1:p.Asp145Glu"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 412,
          "referenceAllele": "C",
          "start": 411
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Thr78Ser",
        "hgvsWellDefined": "XP_011516447.1:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.-514C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:n.-514C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "C",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.-448C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:n.-448C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 697,
          "referenceAllele": "C",
          "start": 696
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.-400C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:n.-400C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2255,
          "referenceAllele": "C",
          "start": 2254
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.-711C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:n.-711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.859C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.859C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 637,
          "referenceAllele": "C",
          "start": 636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.637C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 813,
          "referenceAllele": "C",
          "start": 812
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.813C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445350",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Thr230Ser",
        "hgvsWellDefined": "NP_001070833.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.689C>G"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.689C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Thr230Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Thr230Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446483",
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001070834.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815330",
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Thr230Ser",
        "hgvsWellDefined": "NP_001129585.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816354",
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001129586.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712910",
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Thr230Ser",
        "hgvsWellDefined": "NP_001340122.2:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713508",
      "coordinates": [
        {
          "allele": "G",
          "end": 963,
          "referenceAllele": "C",
          "start": 962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001340123.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714039",
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001340124.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714613",
      "coordinates": [
        {
          "allele": "G",
          "end": 785,
          "referenceAllele": "C",
          "start": 784
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.599C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Thr200Ser",
        "hgvsWellDefined": "NP_001340125.1:p.Thr200Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715192",
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Thr176Ser",
        "hgvsWellDefined": "NP_001340126.2:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715782",
      "coordinates": [
        {
          "allele": "G",
          "end": 1424,
          "referenceAllele": "C",
          "start": 1423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Thr176Ser",
        "hgvsWellDefined": "NP_001340127.2:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716323",
      "coordinates": [
        {
          "allele": "G",
          "end": 616,
          "referenceAllele": "C",
          "start": 615
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Thr113Ser",
        "hgvsWellDefined": "NP_001340128.2:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716848",
      "coordinates": [
        {
          "allele": "G",
          "end": 469,
          "referenceAllele": "C",
          "start": 468
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Thr78Ser",
        "hgvsWellDefined": "NP_001340129.1:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828535658",
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001361618.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536283",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Thr230Ser",
        "hgvsWellDefined": "NP_001361619.1:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536731",
      "coordinates": [
        {
          "allele": "G",
          "end": 805,
          "referenceAllele": "C",
          "start": 804
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001361620.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537232",
      "coordinates": [
        {
          "allele": "G",
          "end": 717,
          "referenceAllele": "C",
          "start": 716
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.338C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Thr113Ser",
        "hgvsWellDefined": "NP_001361621.1:p.Thr113Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537791",
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.527C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Thr176Ser",
        "hgvsWellDefined": "NP_001361622.1:p.Thr176Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580234874",
      "coordinates": [
        {
          "allele": "G",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.233C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Thr78Ser",
        "hgvsWellDefined": "NP_001361624.1:p.Thr78Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829694540",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.689C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Thr230Ser",
        "hgvsWellDefined": "NP_009102.4:p.Thr230Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.723C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.875C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.723C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "referenceAllele": "C",
          "start": 610
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.611C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.875C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 504,
          "referenceAllele": "C",
          "start": 503
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.504C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 768,
          "referenceAllele": "C",
          "start": 767
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.768C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 723,
          "referenceAllele": "C",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.723C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1115,
          "referenceAllele": "C",
          "start": 1114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.1115C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 709,
          "referenceAllele": "C",
          "start": 708
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.709C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}