{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5293287",
  "communityStandardTitle": [
    "NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=459433[alleleid]",
        "alleleId": 459433,
        "preferredName": "NM_001077365.2(POMT1):c.488A>G (p.Asn163Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/471383",
        "RCV": [
          "RCV000526210",
          "RCV000732557"
        ],
        "variationId": 471383
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/9-134384358-A-G",
        "id": "9-134384358-A-G",
        "variant": "9:134384358 A / G"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.134384358A>G?assembly=hg19",
        "id": "chr9:g.134384358A>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr9:g.131508971A>G?assembly=hg38",
        "id": "chr9:g.131508971A>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/182295674",
        "rs": 182295674
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-134384358-A-G?dataset=gnomad_r2_1",
        "id": "9-134384358-A-G",
        "variant": "9:134384358 A / G"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131508971-A-G?dataset=gnomad_r3",
        "id": "9-131508971-A-G",
        "variant": "9:131508971 A / G"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/9-131508971-A-G?dataset=gnomad_r4",
        "id": "9-131508971-A-G",
        "variant": "9:131508971 A / G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 131508971,
          "referenceAllele": "A",
          "start": 131508970
        }
      ],
      "hgvs": [
        "NC_000009.12:g.131508971A>G",
        "CM000671.2:g.131508971A>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000057"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 134384358,
          "referenceAllele": "A",
          "start": 134384357
        }
      ],
      "hgvs": [
        "NC_000009.11:g.134384358A>G",
        "CM000671.1:g.134384358A>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000033"
    },
    {
      "chromosome": "9",
      "coordinates": [
        {
          "allele": "G",
          "end": 133374179,
          "referenceAllele": "A",
          "start": 133374178
        }
      ],
      "hgvs": [
        "NC_000009.10:g.133374179A>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000009"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11070,
          "referenceAllele": "A",
          "start": 11069
        }
      ],
      "hgvs": [
        "NG_008896.1:g.11070A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001288"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 11070,
          "referenceAllele": "A",
          "start": 11069
        }
      ],
      "hgvs": [
        "NG_008896.2:g.11070A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS733319"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.13:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000343034.7:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 597,
          "referenceAllele": "A",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.7:n.597A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS824581"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 479,
          "referenceAllele": "A",
          "start": 478
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.6:c.479A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.2:p.Asn160Ser",
        "hgvsWellDefined": "ENSP00000404119.2:p.Asn160Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824722"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "referenceAllele": "A",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.7:n.61A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825124"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 784,
          "referenceAllele": "A",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.2:c.*564A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.2:n.*564A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826930"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1578,
          "referenceAllele": "A",
          "start": 1577
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.2:c.*671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.2:n.*671A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826933"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 343,
          "referenceAllele": "A",
          "start": 342
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678942.2:c.183A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504690.2:p.Gln61="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS826937"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682070.1:n.685A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827068"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "referenceAllele": "A",
          "start": 60
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682563.1:n.61A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827553"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 490,
          "referenceAllele": "A",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000682813.1:n.490A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827801"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683229.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000506964.1:p.Asn11Ser",
        "hgvsWellDefined": "ENSP00000506964.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS828211"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2972,
          "referenceAllele": "A",
          "start": 2971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683392.1:n.2972A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828371"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683712.1:n.625A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828683"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1603,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 1603,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000683900.1:n.1604-772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS828866"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 797,
          "referenceAllele": "A",
          "start": 796
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684062.1:n.797A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829021"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2066,
          "referenceAllele": "A",
          "start": 2065
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000684579.1:n.2066A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS829531"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "A",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.12:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000343034.7:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 124,
          "endIntronDirection": "-",
          "endIntronOffset": 3069,
          "referenceAllele": "A",
          "start": 124,
          "startIntronDirection": "-",
          "startIntronOffset": 3070
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372220.5:c.-145-3070A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361294.5:n.-145-3070A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750959"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 803,
          "referenceAllele": "A",
          "start": 802
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.9:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000361302.3:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750961"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "A",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.8:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.4:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000385797.4:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754017",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.488A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.488A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Asn163Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Asn163Ser"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000415075.6:c.*198A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405149.2:n.*198A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS754596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "A",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000430619.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402083.2:p.Asn11Ser",
        "hgvsWellDefined": "ENSP00000402083.2:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 312,
          "referenceAllele": "A",
          "start": 311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.6:n.312A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS756740"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 926,
          "referenceAllele": "A",
          "start": 925
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676640.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503281.1:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000503281.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 130,
          "endIntronDirection": "-",
          "endIntronOffset": 1288,
          "referenceAllele": "A",
          "start": 130,
          "startIntronDirection": "-",
          "startIntronOffset": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676803.1:c.-126-1289A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503093.1:n.-126-1289A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776475"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 378,
          "referenceAllele": "A",
          "start": 377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676835.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502911.1:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000502911.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776507"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 501,
          "referenceAllele": "A",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000676915.1:c.341A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504628.1:p.Asn114Ser",
        "hgvsWellDefined": "ENSP00000504628.1:p.Asn114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776586"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 383,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 383,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677028.1:c.266-772A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503896.1:n.266-772A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776697"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677029.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000502936.1:p.Asn11Ser",
        "hgvsWellDefined": "ENSP00000502936.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776698"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 422,
          "referenceAllele": "A",
          "start": 421
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677099.1:c.*198A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504553.1:n.*198A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776765"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677216.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503772.1:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000503772.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776879"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 129,
          "endIntronDirection": "-",
          "endIntronOffset": 1385,
          "referenceAllele": "A",
          "start": 129,
          "startIntronDirection": "-",
          "startIntronOffset": 1386
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677293.1:c.-29-1386A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504278.1:n.-29-1386A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 685,
          "referenceAllele": "A",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677295.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504346.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000504346.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS776958"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 31,
          "referenceAllele": "A",
          "start": 30
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677444.1:c.31A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777106"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "endIntronDirection": "-",
          "endIntronOffset": 1288,
          "referenceAllele": "A",
          "start": 180,
          "startIntronDirection": "-",
          "startIntronOffset": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677586.1:n.181-1289A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777245"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 492,
          "referenceAllele": "A",
          "start": 491
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677626.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503552.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000503552.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 448,
          "referenceAllele": "A",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677677.1:n.448A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777335"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 611,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 611,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677729.1:c.428-772A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503581.1:n.428-772A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777385"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677853.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503488.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000503488.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777505"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 7,
          "referenceAllele": "A",
          "start": 6
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000677944.1:c.7A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS777596"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 625,
          "referenceAllele": "A",
          "start": 624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678264.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503157.1:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000503157.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777912"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 554,
          "referenceAllele": "A",
          "start": 553
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678303.1:c.398A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503696.1:p.Asn133Ser",
        "hgvsWellDefined": "ENSP00000503696.1:p.Asn133Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS777951"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1135,
          "referenceAllele": "A",
          "start": 1134
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678366.1:c.*671A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504353.1:n.*671A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778013"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 485,
          "referenceAllele": "A",
          "start": 484
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678546.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503062.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000503062.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778187"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "A",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678548.1:c.*198A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503934.1:n.*198A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778189"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 180,
          "referenceAllele": "A",
          "start": 179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678626.1:n.180A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778266"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 177,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 177,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678707.1:n.178-772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778346"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 837,
          "referenceAllele": "A",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678739.1:c.*546A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503806.1:n.*546A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778378"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 541,
          "referenceAllele": "A",
          "start": 540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678785.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504231.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000504231.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778423"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 601,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 601,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000678833.1:c.428-772A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503893.1:n.428-772A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778471"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679023.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503718.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000503718.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778658"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 199,
          "referenceAllele": "A",
          "start": 198
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679076.1:c.199A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS778711"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679111.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000504257.1:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000504257.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778746"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 266,
          "referenceAllele": "A",
          "start": 265
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000679189.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000503356.1:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000503356.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS778824"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000341012.11:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343034.7:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000343034.7:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261233"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 667,
          "referenceAllele": "A",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000372228.7:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000361302.3:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000361302.3:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS268987"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 648,
          "referenceAllele": "A",
          "start": 647
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000402686.7:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000385797.3:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000385797.3:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279592"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "A",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000404875.6:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000384531.2:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000384531.2:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 514,
          "referenceAllele": "A",
          "start": 513
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000415075.5:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000405149.1:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000405149.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS283826"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000423007.5:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000404119.1:p.Asn163Ser",
        "hgvsWellDefined": "ENSP00000404119.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS287545"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 324,
          "referenceAllele": "A",
          "start": 323
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000430619.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000402083.1:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000402083.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291235"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000441334.5:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395060.1:p.Asn46Ser",
        "hgvsWellDefined": "ENSP00000395060.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296347"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 462,
          "referenceAllele": "A",
          "start": 461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000448212.5:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403736.1:p.Asn109Ser",
        "hgvsWellDefined": "ENSP00000403736.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299621"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 46,
          "referenceAllele": "A",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "ENST00000462375.5:n.46A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS306647"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445235",
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Asn163Ser",
        "hgvsWellDefined": "NP_001070833.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009962"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446366",
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001070834.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS009963"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815249",
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Asn163Ser",
        "hgvsWellDefined": "NP_001129585.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012602"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816241",
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "A",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001129586.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS012603"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658662138",
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.3:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.3:p.Asn163Ser",
        "hgvsWellDefined": "NP_009102.3:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032102"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 816,
          "referenceAllele": "A",
          "start": 815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272156.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272213.1:p.Asn163Ser",
        "hgvsWellDefined": "XP_005272213.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067159"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 545,
          "referenceAllele": "A",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272158.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272215.1:p.Asn109Ser",
        "hgvsWellDefined": "XP_005272215.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067160"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 435,
          "referenceAllele": "A",
          "start": 434
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272159.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272216.1:p.Asn46Ser",
        "hgvsWellDefined": "XP_005272216.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067161"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 618,
          "referenceAllele": "A",
          "start": 617
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.1:c.-912A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:n.-912A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS067162"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Asn46Ser",
        "hgvsWellDefined": "XP_006716995.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071906"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.1:c.341A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Asn114Ser",
        "hgvsWellDefined": "XP_011516442.1:p.Asn114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085316"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.1:c.341A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Asn114Ser",
        "hgvsWellDefined": "XP_011516443.1:p.Asn114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085317"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.1:c.179A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Asn60Ser",
        "hgvsWellDefined": "XP_011516444.1:p.Asn60Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085318"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.1:c.234A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Gln78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085319"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "A",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518144.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516446.1:p.Asn163Ser",
        "hgvsWellDefined": "XP_011516446.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085320"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "A",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Asn11Ser",
        "hgvsWellDefined": "XP_011516447.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085321"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518146.1:c.234A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516448.1:p.Gln78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS085322"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 664,
          "referenceAllele": "A",
          "start": 663
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_929703.1:n.664A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS125832"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.1:p.Asn163Ser",
        "hgvsWellDefined": "NP_001340122.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521539"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713457",
      "coordinates": [
        {
          "allele": "G",
          "end": 778,
          "referenceAllele": "A",
          "start": 777
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001340123.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521540"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713988",
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "A",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001340124.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521541"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714562",
      "coordinates": [
        {
          "allele": "G",
          "end": 600,
          "referenceAllele": "A",
          "start": 599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.1:c.398A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Asn133Ser",
        "hgvsWellDefined": "NP_001340125.1:p.Asn133Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521542"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001340126.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521543"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1239,
          "referenceAllele": "A",
          "start": 1238
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001340127.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521544"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 431,
          "referenceAllele": "A",
          "start": 430
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001340128.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521545"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716799",
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "referenceAllele": "A",
          "start": 283
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Asn11Ser",
        "hgvsWellDefined": "NP_001340129.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521546"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.1:n.538A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531129"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.1:n.690A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531130"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.1:n.538A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531131"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 477,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 477,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.1:n.478-772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531132"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 690,
          "referenceAllele": "A",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.1:n.690A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531133"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 370,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 370,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.1:n.371-772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531134"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 583,
          "referenceAllele": "A",
          "start": 582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.1:n.583A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531135"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 538,
          "referenceAllele": "A",
          "start": 537
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.1:n.538A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531136"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 930,
          "referenceAllele": "A",
          "start": 929
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.1:n.930A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531137"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 524,
          "referenceAllele": "A",
          "start": 523
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.1:n.524A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531138"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 656,
          "referenceAllele": "A",
          "start": 655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_005272162.3:c.-912A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005272219.1:n.-912A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537254"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 468,
          "referenceAllele": "A",
          "start": 467
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_006716932.2:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_006716995.1:p.Asn46Ser",
        "hgvsWellDefined": "XP_006716995.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS539284"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518140.2:c.341A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516442.1:p.Asn114Ser",
        "hgvsWellDefined": "XP_011516442.1:p.Asn114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544786"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 543,
          "referenceAllele": "A",
          "start": 542
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518141.2:c.341A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516443.1:p.Asn114Ser",
        "hgvsWellDefined": "XP_011516443.1:p.Asn114Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544787"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
          "referenceAllele": "A",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518142.2:c.179A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516444.1:p.Asn60Ser",
        "hgvsWellDefined": "XP_011516444.1:p.Asn60Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544788"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518143.2:c.234A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516445.1:p.Gln78="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544789"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 211,
          "referenceAllele": "A",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_011518145.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_011516447.1:p.Asn11Ser",
        "hgvsWellDefined": "XP_011516447.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544790"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_017014205.2:c.-715A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869694.1:n.-715A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS567232"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 261,
          "referenceAllele": "A",
          "start": 260
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447380.1:c.-649A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303148.1:n.-649A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580963"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 496,
          "referenceAllele": "A",
          "start": 495
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447381.1:c.-601A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303149.1:n.-601A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580964"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2054,
          "referenceAllele": "A",
          "start": 2053
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XM_024447382.1:c.-912A>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_024303150.1:n.-912A>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS580965"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746160.2:n.658A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594520"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 658,
          "referenceAllele": "A",
          "start": 657
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746162.2:n.658A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594521"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 436,
          "referenceAllele": "A",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746164.1:n.436A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594522"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 612,
          "referenceAllele": "A",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "XR_001746166.2:n.612A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594523"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825445235",
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "A",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077365.2:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070833.1:p.Asn163Ser",
        "hgvsWellDefined": "NP_001070833.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676149",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000402686.8:c.488A>G"
          },
          "RefSeq": {
            "hgvs": "NM_001077365.2:c.488A>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000385797.4:p.Asn163Ser"
          },
          "RefSeq": {
            "hgvs": "NP_001070833.1:p.Asn163Ser"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825446366",
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001077366.2:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001070834.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001070834.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676150"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825815249",
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136113.2:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129585.1:p.Asn163Ser",
        "hgvsWellDefined": "NP_001129585.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677395"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825816241",
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001136114.2:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001129586.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001129586.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS677396"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712859",
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353193.2:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340122.2:p.Asn163Ser",
        "hgvsWellDefined": "NP_001340122.2:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689628"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713457",
      "coordinates": [
        {
          "allele": "G",
          "end": 762,
          "referenceAllele": "A",
          "start": 761
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353194.2:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340123.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001340123.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689629"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827713988",
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353195.2:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340124.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001340124.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689630"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827714562",
      "coordinates": [
        {
          "allele": "G",
          "end": 584,
          "referenceAllele": "A",
          "start": 583
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353196.2:c.398A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340125.1:p.Asn133Ser",
        "hgvsWellDefined": "NP_001340125.1:p.Asn133Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689631"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715141",
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353197.2:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340126.2:p.Asn109Ser",
        "hgvsWellDefined": "NP_001340126.2:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689632"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827715731",
      "coordinates": [
        {
          "allele": "G",
          "end": 1223,
          "referenceAllele": "A",
          "start": 1222
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353198.2:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340127.2:p.Asn109Ser",
        "hgvsWellDefined": "NP_001340127.2:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689633"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035734",
      "coordinates": [
        {
          "allele": "G",
          "end": 415,
          "referenceAllele": "A",
          "start": 414
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353199.2:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340128.2:p.Asn46Ser",
        "hgvsWellDefined": "NP_001340128.2:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689634"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827716799",
      "coordinates": [
        {
          "allele": "G",
          "end": 268,
          "referenceAllele": "A",
          "start": 267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001353200.2:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340129.1:p.Asn11Ser",
        "hgvsWellDefined": "NP_001340129.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828535607",
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374689.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361618.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001361618.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693346"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536232",
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "A",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374690.1:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361619.1:p.Asn163Ser",
        "hgvsWellDefined": "NP_001361619.1:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693347"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828536680",
      "coordinates": [
        {
          "allele": "G",
          "end": 604,
          "referenceAllele": "A",
          "start": 603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374691.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361620.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001361620.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693348"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139743495",
      "coordinates": [
        {
          "allele": "G",
          "end": 516,
          "referenceAllele": "A",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374692.1:c.137A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361621.1:p.Asn46Ser",
        "hgvsWellDefined": "NP_001361621.1:p.Asn46Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693349"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828537740",
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374693.1:c.326A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361622.1:p.Asn109Ser",
        "hgvsWellDefined": "NP_001361622.1:p.Asn109Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693350"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828538190",
      "coordinates": [
        {
          "allele": "G",
          "end": 369,
          "referenceAllele": "A",
          "start": 368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_001374695.1:c.32A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001361624.1:p.Asn11Ser",
        "hgvsWellDefined": "NP_001361624.1:p.Asn11Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS693351"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829694442",
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "A",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NM_007171.4:c.488A>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_009102.4:p.Asn163Ser",
        "hgvsWellDefined": "NP_009102.4:p.Asn163Ser"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696926"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148391.2:n.522A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704727"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "A",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148392.2:n.674A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704728"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148393.2:n.522A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704729"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 461,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 461,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148394.2:n.462-772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704730"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 674,
          "referenceAllele": "A",
          "start": 673
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148395.2:n.674A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 354,
          "endIntronDirection": "-",
          "endIntronOffset": 771,
          "referenceAllele": "A",
          "start": 354,
          "startIntronDirection": "-",
          "startIntronOffset": 772
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148396.2:n.355-772A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704732"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 567,
          "referenceAllele": "A",
          "start": 566
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148397.2:n.567A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704733"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 522,
          "referenceAllele": "A",
          "start": 521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148398.2:n.522A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704734"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "A",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148399.2:n.914A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704735"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 508,
          "referenceAllele": "A",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009202",
      "geneNCBI_id": 10585,
      "geneSymbol": "POMT1",
      "hgvs": [
        "NR_148400.2:n.508A>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704736"
    }
  ],
  "type": "nucleotide"
}