{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5293329",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=270049[alleleid]",
        "alleleId": 270049,
        "preferredName": "NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/285812",
        "RCV": [
          "RCV000712827",
          "RCV000540929",
          "RCV002519193",
          "RCV004543069"
        ],
        "variationId": 285812
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-134385176-G-A",
        "id": "9-134385176-G-A",
        "variant": "9:134385176 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134385176G>A?assembly=hg19",
        "id": "chr9:g.134385176G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131509789G>A?assembly=hg38",
        "id": "chr9:g.131509789G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/199498900",
        "rs": 199498900
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134385176-G-A?dataset=gnomad_r2_1",
        "id": "9-134385176-G-A",
        "variant": "9:134385176 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131509789-G-A?dataset=gnomad_r3",
        "id": "9-131509789-G-A",
        "variant": "9:131509789 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131509789-G-A?dataset=gnomad_r4",
        "id": "9-131509789-G-A",
        "variant": "9:131509789 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 131509789,
          "referenceAllele": "G",
          "start": 131509788
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131509789G>A",
        "CM000671.2:g.131509789G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 134385176,
          "referenceAllele": "G",
          "start": 134385175
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134385176G>A",
        "CM000671.1:g.134385176G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "A",
          "end": 133374997,
          "referenceAllele": "G",
          "start": 133374996
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133374997G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11888,
          "referenceAllele": "G",
          "start": 11887
        }
      ],
      "hgvs": [
        "NG_008896.1:g.11888G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 11888,
          "referenceAllele": "G",
          "start": 11887
        }
      ],
      "hgvs": [
        "NG_008896.2:g.11888G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000343034.7:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 695,
          "referenceAllele": "G",
          "start": 694
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.695G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 577,
          "referenceAllele": "G",
          "start": 576
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.577G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Ala193Thr",
        "hgvsWellDefined": "ENSP00000404119.2:p.Ala193Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 112,
          "endIntronDirection": "-",
          "endIntronOffset": 113,
          "referenceAllele": "G",
          "start": 112,
          "startIntronDirection": "-",
          "startIntronOffset": 114
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.7:n.113-114G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825124"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 882,
          "referenceAllele": "G",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*662G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*662G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1676,
          "referenceAllele": "G",
          "start": 1675
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*769G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*769G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 441,
          "referenceAllele": "G",
          "start": 440
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678942.2:c.281G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504690.2:p.Arg94His",
        "hgvsWellDefined": "ENSP00000504690.2:p.Arg94His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826937"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.783G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 588,
          "referenceAllele": "G",
          "start": 587
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.588G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 47,
          "referenceAllele": "G",
          "start": 46
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683134.1:c.47G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828119"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 3070,
          "referenceAllele": "G",
          "start": 3069
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.3070G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.723G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1650,
          "referenceAllele": "G",
          "start": 1649
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.1650G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 895,
          "referenceAllele": "G",
          "start": 894
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.895G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2164,
          "referenceAllele": "G",
          "start": 2163
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.2164G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000343034.7:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 2251,
          "referenceAllele": "G",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 2252
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.-145-2252G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:n.-145-2252G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 901,
          "referenceAllele": "G",
          "start": 900
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000361302.3:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000385797.4:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.586G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.586G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Ala196Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Ala196Thr"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 567,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000415075.6:c.*250-568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405149.2:n.*250-568G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000430619.2:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402083.2:p.Ala44Thr",
        "hgvsWellDefined": "ENSP00000402083.2:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755329"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 410,
          "referenceAllele": "G",
          "start": 409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.6:n.410G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756740"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1024,
          "referenceAllele": "G",
          "start": 1023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000503281.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 470,
          "referenceAllele": "G",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.-126-471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:n.-126-471G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 429,
          "endIntronDirection": "-",
          "endIntronOffset": 470,
          "referenceAllele": "G",
          "start": 429,
          "startIntronDirection": "-",
          "startIntronOffset": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.189-471G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:n.189-471G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676915.1:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504628.1:p.Ala147Thr",
        "hgvsWellDefined": "ENSP00000504628.1:p.Ala147Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776586"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 430,
          "referenceAllele": "G",
          "start": 429
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677028.1:c.*33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503896.1:n.*33G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776697"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Ala44Thr",
        "hgvsWellDefined": "ENSP00000502936.1:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 520,
          "referenceAllele": "G",
          "start": 519
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*296G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Ala79Thr",
        "hgvsWellDefined": "ENSP00000503772.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 567,
          "referenceAllele": "G",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677293.1:c.-29-568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504278.1:n.-29-568G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776956"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 783,
          "referenceAllele": "G",
          "start": 782
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000504346.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 129,
          "referenceAllele": "G",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.129G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 470,
          "referenceAllele": "G",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 471
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.181-471G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 590,
          "referenceAllele": "G",
          "start": 589
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000503552.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 546,
          "referenceAllele": "G",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677677.1:n.546G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777335"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 658,
          "referenceAllele": "G",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677729.1:c.*33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503581.1:n.*33G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777385"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 561,
          "endIntronDirection": "-",
          "endIntronOffset": 567,
          "referenceAllele": "G",
          "start": 561,
          "startIntronDirection": "-",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.378-568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:n.378-568G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 58,
          "endIntronDirection": "-",
          "endIntronOffset": 567,
          "referenceAllele": "G",
          "start": 58,
          "startIntronDirection": "-",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677944.1:c.59-568G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777596"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 723,
          "referenceAllele": "G",
          "start": 722
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000503157.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 652,
          "referenceAllele": "G",
          "start": 651
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Ala166Thr",
        "hgvsWellDefined": "ENSP00000503696.1:p.Ala166Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1233,
          "referenceAllele": "G",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*769G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*769G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 583,
          "referenceAllele": "G",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000503062.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 647,
          "referenceAllele": "G",
          "start": 646
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*296G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*296G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 278,
          "referenceAllele": "G",
          "start": 277
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.278G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 269,
          "referenceAllele": "G",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678693.1:n.269G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778332"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 224,
          "referenceAllele": "G",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678707.1:n.224G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778346"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 935,
          "referenceAllele": "G",
          "start": 934
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*644G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*644G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 648,
          "referenceAllele": "G",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.*33G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.*33G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000503718.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 297,
          "referenceAllele": "G",
          "start": 296
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.297G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000504257.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 364,
          "referenceAllele": "G",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Ala79Thr",
        "hgvsWellDefined": "ENSP00000503356.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000343034.7:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000361302.3:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 746,
          "referenceAllele": "G",
          "start": 745
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000385797.3:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Ala79Thr",
        "hgvsWellDefined": "ENSP00000384531.2:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "-",
          "endIntronOffset": 567,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "-",
          "startIntronOffset": 568
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000415075.5:c.189-568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405149.1:n.189-568G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283826"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Ala196Thr",
        "hgvsWellDefined": "ENSP00000404119.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 422,
          "referenceAllele": "G",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000430619.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402083.1:p.Ala79Thr",
        "hgvsWellDefined": "ENSP00000402083.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291235"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000441334.5:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395060.1:p.Ala79Thr",
        "hgvsWellDefined": "ENSP00000395060.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296347"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 560,
          "referenceAllele": "G",
          "start": 559
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000448212.5:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403736.1:p.Ala142Thr",
        "hgvsWellDefined": "ENSP00000403736.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299621"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "G",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.5:n.144G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445298",
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Ala196Thr",
        "hgvsWellDefined": "NP_001070833.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446413",
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001070834.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815273",
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Ala196Thr",
        "hgvsWellDefined": "NP_001129585.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816286",
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001129586.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645434036",
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Ala196Thr",
        "hgvsWellDefined": "NP_009102.3:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 914,
          "referenceAllele": "G",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Ala196Thr",
        "hgvsWellDefined": "XP_005272213.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 643,
          "referenceAllele": "G",
          "start": 642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Ala142Thr",
        "hgvsWellDefined": "XP_005272215.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 533,
          "referenceAllele": "G",
          "start": 532
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Ala79Thr",
        "hgvsWellDefined": "XP_005272216.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 716,
          "referenceAllele": "G",
          "start": 715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.-814G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:n.-814G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Ala79Thr",
        "hgvsWellDefined": "XP_006716995.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Ala147Thr",
        "hgvsWellDefined": "XP_011516442.1:p.Ala147Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Ala147Thr",
        "hgvsWellDefined": "XP_011516443.1:p.Ala147Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.277G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Ala93Thr",
        "hgvsWellDefined": "XP_011516444.1:p.Ala93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Arg111His",
        "hgvsWellDefined": "XP_011516445.1:p.Arg111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518144.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516446.1:p.Ala196Thr",
        "hgvsWellDefined": "XP_011516446.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085320"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Ala44Thr",
        "hgvsWellDefined": "XP_011516447.1:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518146.1:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516448.1:p.Arg111His",
        "hgvsWellDefined": "XP_011516448.1:p.Arg111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085322"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 762,
          "referenceAllele": "G",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.762G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Ala196Thr",
        "hgvsWellDefined": "NP_001340122.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713478",
      "coordinates": [
        {
          "allele": "A",
          "end": 876,
          "referenceAllele": "G",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001340123.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714008",
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001340124.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714583",
      "coordinates": [
        {
          "allele": "A",
          "end": 698,
          "referenceAllele": "G",
          "start": 697
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Ala166Thr",
        "hgvsWellDefined": "NP_001340125.1:p.Ala166Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001340126.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1337,
          "referenceAllele": "G",
          "start": 1336
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001340127.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 529,
          "referenceAllele": "G",
          "start": 528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001340128.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716819",
      "coordinates": [
        {
          "allele": "A",
          "end": 382,
          "referenceAllele": "G",
          "start": 381
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Ala44Thr",
        "hgvsWellDefined": "NP_001340129.1:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 524,
          "referenceAllele": "G",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.524G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.788G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 417,
          "referenceAllele": "G",
          "start": 416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.417G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 681,
          "referenceAllele": "G",
          "start": 680
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.681G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 636,
          "referenceAllele": "G",
          "start": 635
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.636G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1028,
          "referenceAllele": "G",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.1028G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 622,
          "referenceAllele": "G",
          "start": 621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.622G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 754,
          "referenceAllele": "G",
          "start": 753
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.-814G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:n.-814G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 566,
          "referenceAllele": "G",
          "start": 565
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Ala79Thr",
        "hgvsWellDefined": "XP_006716995.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Ala147Thr",
        "hgvsWellDefined": "XP_011516442.1:p.Ala147Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 641,
          "referenceAllele": "G",
          "start": 640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.439G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Ala147Thr",
        "hgvsWellDefined": "XP_011516443.1:p.Ala147Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 443,
          "referenceAllele": "G",
          "start": 442
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.277G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Ala93Thr",
        "hgvsWellDefined": "XP_011516444.1:p.Ala93Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.332G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Arg111His",
        "hgvsWellDefined": "XP_011516445.1:p.Arg111His"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 309,
          "referenceAllele": "G",
          "start": 308
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Ala44Thr",
        "hgvsWellDefined": "XP_011516447.1:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.-617G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:n.-617G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 359,
          "referenceAllele": "G",
          "start": 358
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.-551G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:n.-551G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 594,
          "referenceAllele": "G",
          "start": 593
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.-503G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:n.-503G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2152,
          "referenceAllele": "G",
          "start": 2151
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.-814G>A"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:n.-814G>A"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.756G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 756,
          "referenceAllele": "G",
          "start": 755
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.756G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 534,
          "referenceAllele": "G",
          "start": 533
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.534G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.710G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445298",
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Ala196Thr",
        "hgvsWellDefined": "NP_001070833.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.586G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.586G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Ala196Thr"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Ala196Thr"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446413",
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001070834.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815273",
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Ala196Thr",
        "hgvsWellDefined": "NP_001129585.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816286",
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001129586.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712879",
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Ala196Thr",
        "hgvsWellDefined": "NP_001340122.2:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713478",
      "coordinates": [
        {
          "allele": "A",
          "end": 860,
          "referenceAllele": "G",
          "start": 859
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001340123.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714008",
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001340124.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714583",
      "coordinates": [
        {
          "allele": "A",
          "end": 682,
          "referenceAllele": "G",
          "start": 681
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.496G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Ala166Thr",
        "hgvsWellDefined": "NP_001340125.1:p.Ala166Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715161",
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Ala142Thr",
        "hgvsWellDefined": "NP_001340126.2:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715752",
      "coordinates": [
        {
          "allele": "A",
          "end": 1321,
          "referenceAllele": "G",
          "start": 1320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Ala142Thr",
        "hgvsWellDefined": "NP_001340127.2:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035736",
      "coordinates": [
        {
          "allele": "A",
          "end": 513,
          "referenceAllele": "G",
          "start": 512
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Ala79Thr",
        "hgvsWellDefined": "NP_001340128.2:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716819",
      "coordinates": [
        {
          "allele": "A",
          "end": 366,
          "referenceAllele": "G",
          "start": 365
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Ala44Thr",
        "hgvsWellDefined": "NP_001340129.1:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828535628",
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001361618.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536252",
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Ala196Thr",
        "hgvsWellDefined": "NP_001361619.1:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536701",
      "coordinates": [
        {
          "allele": "A",
          "end": 702,
          "referenceAllele": "G",
          "start": 701
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001361620.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743498",
      "coordinates": [
        {
          "allele": "A",
          "end": 614,
          "referenceAllele": "G",
          "start": 613
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.235G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Ala79Thr",
        "hgvsWellDefined": "NP_001361621.1:p.Ala79Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537761",
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.424G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Ala142Thr",
        "hgvsWellDefined": "NP_001361622.1:p.Ala142Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538210",
      "coordinates": [
        {
          "allele": "A",
          "end": 467,
          "referenceAllele": "G",
          "start": 466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.130G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Ala44Thr",
        "hgvsWellDefined": "NP_001361624.1:p.Ala44Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829694478",
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.586G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Ala196Thr",
        "hgvsWellDefined": "NP_009102.4:p.Ala196Thr"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 508,
          "referenceAllele": "G",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.508G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 772,
          "referenceAllele": "G",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.772G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 401,
          "referenceAllele": "G",
          "start": 400
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.401G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 665,
          "referenceAllele": "G",
          "start": 664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.665G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 620,
          "referenceAllele": "G",
          "start": 619
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.620G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1012,
          "referenceAllele": "G",
          "start": 1011
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.1012G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 606,
          "referenceAllele": "G",
          "start": 605
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.606G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}